[ { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 106, "end_pos": 106, "site_seq": "R", "up_seq": "LVQTFGHMEFVLKHTAFAHL", "down_seq": "EVGSFPCTLNPHEAESLALV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.106.106", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 107, "end_pos": 107, "site_seq": "E", "up_seq": "VQTFGHMEFVLKHTAFAHLR", "down_seq": "VGSFPCTLNPHEAESLALVG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.107.107", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 110, "end_pos": 110, "site_seq": "S", "up_seq": "FGHMEFVLKHTAFAHLREVG", "down_seq": "FPCTLNPHEAESLALVGAMI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.110.110", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 111, "end_pos": 111, "site_seq": "F", "up_seq": "GHMEFVLKHTAFAHLREVGS", "down_seq": "PCTLNPHEAESLALVGAMID", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.111.111", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 112, "end_pos": 112, "site_seq": "P", "up_seq": "HMEFVLKHTAFAHLREVGSF", "down_seq": "CTLNPHEAESLALVGAMIDQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.112.112", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 114, "end_pos": 114, "site_seq": "T", "up_seq": "EFVLKHTAFAHLREVGSFPC", "down_seq": "LNPHEAESLALVGAMIDQVL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.114.114", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 116, "end_pos": 116, "site_seq": "N", "up_seq": "VLKHTAFAHLREVGSFPCTL", "down_seq": "PHEAESLALVGAMIDQVLEL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.116.116", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 117, "end_pos": 117, "site_seq": "P", "up_seq": "LKHTAFAHLREVGSFPCTLN", "down_seq": "HEAESLALVGAMIDQVLELH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.117.117", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 119, "end_pos": 119, "site_seq": "E", "up_seq": "HTAFAHLREVGSFPCTLNPH", "down_seq": "AESLALVGAMIDQVLELHPG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.119.119", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 11, "end_pos": 11, "site_seq": "L", "up_seq": "MSGSTPFQMR", "down_seq": "VHLDLKGAPPKVSYLSEIFP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.11.11", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 122, "end_pos": 122, "site_seq": "S", "up_seq": "FAHLREVGSFPCTLNPHEAE", "down_seq": "LALVGAMIDQVLELHPGAQR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.122.122", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 124, "end_pos": 124, "site_seq": "A", "up_seq": "HLREVGSFPCTLNPHEAESL", "down_seq": "LVGAMIDQVLELHPGAQRLH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.124.124", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 126, "end_pos": 126, "site_seq": "V", "up_seq": "REVGSFPCTLNPHEAESLAL", "down_seq": "GAMIDQVLELHPGAQRLHIG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.126.126", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 127, "end_pos": 127, "site_seq": "G", "up_seq": "EVGSFPCTLNPHEAESLALV", "down_seq": "AMIDQVLELHPGAQRLHIGC", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.127.127", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 128, "end_pos": 128, "site_seq": "A", "up_seq": "VGSFPCTLNPHEAESLALVG", "down_seq": "MIDQVLELHPGAQRLHIGCD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.128.128", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 129, "end_pos": 129, "site_seq": "M", "up_seq": "GSFPCTLNPHEAESLALVGA", "down_seq": "IDQVLELHPGAQRLHIGCDE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.129.129", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 12, "end_pos": 12, "site_seq": "V", "up_seq": "MSGSTPFQMRL", "down_seq": "HLDLKGAPPKVSYLSEIFPL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.12.12", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 130, "end_pos": 130, "site_seq": "I", "up_seq": "SFPCTLNPHEAESLALVGAM", "down_seq": "DQVLELHPGAQRLHIGCDEV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.130.130", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 131, "end_pos": 131, "site_seq": "D", "up_seq": "FPCTLNPHEAESLALVGAMI", "down_seq": "QVLELHPGAQRLHIGCDEVY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.131.131", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 133, "end_pos": 133, "site_seq": "V", "up_seq": "CTLNPHEAESLALVGAMIDQ", "down_seq": "LELHPGAQRLHIGCDEVYYL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.133.133", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 135, "end_pos": 135, "site_seq": "E", "up_seq": "LNPHEAESLALVGAMIDQVL", "down_seq": "LHPGAQRLHIGCDEVYYLGE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.135.135", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 136, "end_pos": 136, "site_seq": "L", "up_seq": "NPHEAESLALVGAMIDQVLE", "down_seq": "HPGAQRLHIGCDEVYYLGEG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.136.136", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 137, "end_pos": 137, "site_seq": "H", "up_seq": "PHEAESLALVGAMIDQVLEL", "down_seq": "PGAQRLHIGCDEVYYLGEGE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.137.137", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 138, "end_pos": 138, "site_seq": "P", "up_seq": "HEAESLALVGAMIDQVLELH", "down_seq": "GAQRLHIGCDEVYYLGEGEA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.138.138", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 13, "end_pos": 13, "site_seq": "H", "up_seq": "MSGSTPFQMRLV", "down_seq": "LDLKGAPPKVSYLSEIFPLF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.13.13", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 140, "end_pos": 140, "site_seq": "A", "up_seq": "AESLALVGAMIDQVLELHPG", "down_seq": "QRLHIGCDEVYYLGEGEASR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.140.140", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 141, "end_pos": 141, "site_seq": "Q", "up_seq": "ESLALVGAMIDQVLELHPGA", "down_seq": "RLHIGCDEVYYLGEGEASRR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.141.141", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 142, "end_pos": 142, "site_seq": "R", "up_seq": "SLALVGAMIDQVLELHPGAQ", "down_seq": "LHIGCDEVYYLGEGEASRRW", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.142.142", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 143, "end_pos": 143, "site_seq": "L", "up_seq": "LALVGAMIDQVLELHPGAQR", "down_seq": "HIGCDEVYYLGEGEASRRWL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.143.143", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 144, "end_pos": 144, "site_seq": "H", "up_seq": "ALVGAMIDQVLELHPGAQRL", "down_seq": "IGCDEVYYLGEGEASRRWLQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.144.144", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 146, "end_pos": 146, "site_seq": "G", "up_seq": "VGAMIDQVLELHPGAQRLHI", "down_seq": "CDEVYYLGEGEASRRWLQQE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.146.146", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 147, "end_pos": 147, "site_seq": "C", "up_seq": "GAMIDQVLELHPGAQRLHIG", "down_seq": "DEVYYLGEGEASRRWLQQEQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.147.147", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 150, "end_pos": 150, "site_seq": "V", "up_seq": "IDQVLELHPGAQRLHIGCDE", "down_seq": "YYLGEGEASRRWLQQEQNST", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.150.150", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 151, "end_pos": 151, "site_seq": "Y", "up_seq": "DQVLELHPGAQRLHIGCDEV", "down_seq": "YLGEGEASRRWLQQEQNSTG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.151.151", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 152, "end_pos": 152, "site_seq": "Y", "up_seq": "QVLELHPGAQRLHIGCDEVY", "down_seq": "LGEGEASRRWLQQEQNSTGK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.152.152", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 153, "end_pos": 153, "site_seq": "L", "up_seq": "VLELHPGAQRLHIGCDEVYY", "down_seq": "GEGEASRRWLQQEQNSTGKL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.153.153", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 154, "end_pos": 154, "site_seq": "G", "up_seq": "LELHPGAQRLHIGCDEVYYL", "down_seq": "EGEASRRWLQQEQNSTGKLC", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.154.154", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 155, "end_pos": 155, "site_seq": "E", "up_seq": "ELHPGAQRLHIGCDEVYYLG", "down_seq": "GEASRRWLQQEQNSTGKLCL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.155.155", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 156, "end_pos": 156, "site_seq": "G", "up_seq": "LHPGAQRLHIGCDEVYYLGE", "down_seq": "EASRRWLQQEQNSTGKLCLS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.156.156", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 157, "end_pos": 157, "site_seq": "E", "up_seq": "HPGAQRLHIGCDEVYYLGEG", "down_seq": "ASRRWLQQEQNSTGKLCLSH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.157.157", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 158, "end_pos": 158, "site_seq": "A", "up_seq": "PGAQRLHIGCDEVYYLGEGE", "down_seq": "SRRWLQQEQNSTGKLCLSHM", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.158.158", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 159, "end_pos": 159, "site_seq": "S", "up_seq": "GAQRLHIGCDEVYYLGEGEA", "down_seq": "RRWLQQEQNSTGKLCLSHMR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.159.159", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 15, "end_pos": 15, "site_seq": "D", "up_seq": "MSGSTPFQMRLVHL", "down_seq": "LKGAPPKVSYLSEIFPLFRA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.15.15", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 160, "end_pos": 160, "site_seq": "R", "up_seq": "AQRLHIGCDEVYYLGEGEAS", "down_seq": "RWLQQEQNSTGKLCLSHMRA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.160.160", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 161, "end_pos": 161, "site_seq": "R", "up_seq": "QRLHIGCDEVYYLGEGEASR", "down_seq": "WLQQEQNSTGKLCLSHMRAV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.161.161", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 162, "end_pos": 162, "site_seq": "W", "up_seq": "RLHIGCDEVYYLGEGEASRR", "down_seq": "LQQEQNSTGKLCLSHMRAVA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.162.162", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 163, "end_pos": 163, "site_seq": "L", "up_seq": "LHIGCDEVYYLGEGEASRRW", "down_seq": "QQEQNSTGKLCLSHMRAVAS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.163.163", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 164, "end_pos": 164, "site_seq": "Q", "up_seq": "HIGCDEVYYLGEGEASRRWL", "down_seq": "QEQNSTGKLCLSHMRAVASG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.164.164", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 165, "end_pos": 165, "site_seq": "Q", "up_seq": "IGCDEVYYLGEGEASRRWLQ", "down_seq": "EQNSTGKLCLSHMRAVASGV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.165.165", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 166, "end_pos": 166, "site_seq": "E", "up_seq": "GCDEVYYLGEGEASRRWLQQ", "down_seq": "QNSTGKLCLSHMRAVASGVK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.166.166", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 168, "end_pos": 168, "site_seq": "N", "up_seq": "DEVYYLGEGEASRRWLQQEQ", "down_seq": "STGKLCLSHMRAVASGVKAR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "n-glyco-sequon-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.168.168", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 169, "end_pos": 169, "site_seq": "S", "up_seq": "EVYYLGEGEASRRWLQQEQN", "down_seq": "TGKLCLSHMRAVASGVKARR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.169.169", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 16, "end_pos": 16, "site_seq": "L", "up_seq": "MSGSTPFQMRLVHLD", "down_seq": "KGAPPKVSYLSEIFPLFRAL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.16.16", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 171, "end_pos": 171, "site_seq": "G", "up_seq": "YYLGEGEASRRWLQQEQNST", "down_seq": "KLCLSHMRAVASGVKARRPS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.171.171", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 174, "end_pos": 174, "site_seq": "C", "up_seq": "GEGEASRRWLQQEQNSTGKL", "down_seq": "LSHMRAVASGVKARRPSVTP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.174.174", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 176, "end_pos": 176, "site_seq": "S", "up_seq": "GEASRRWLQQEQNSTGKLCL", "down_seq": "HMRAVASGVKARRPSVTPLV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.176.176", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 177, "end_pos": 177, "site_seq": "H", "up_seq": "EASRRWLQQEQNSTGKLCLS", "down_seq": "MRAVASGVKARRPSVTPLVW", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.177.177", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 178, "end_pos": 178, "site_seq": "M", "up_seq": "ASRRWLQQEQNSTGKLCLSH", "down_seq": "RAVASGVKARRPSVTPLVWD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.178.178", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 180, "end_pos": 180, "site_seq": "A", "up_seq": "RRWLQQEQNSTGKLCLSHMR", "down_seq": "VASGVKARRPSVTPLVWDDM", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.180.180", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 181, "end_pos": 181, "site_seq": "V", "up_seq": "RWLQQEQNSTGKLCLSHMRA", "down_seq": "ASGVKARRPSVTPLVWDDML", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.181.181", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 182, "end_pos": 182, "site_seq": "A", "up_seq": "WLQQEQNSTGKLCLSHMRAV", "down_seq": "SGVKARRPSVTPLVWDDMLR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.182.182", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 184, "end_pos": 184, "site_seq": "G", "up_seq": "QQEQNSTGKLCLSHMRAVAS", "down_seq": "VKARRPSVTPLVWDDMLRDL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.184.184", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 185, "end_pos": 185, "site_seq": "V", "up_seq": "QEQNSTGKLCLSHMRAVASG", "down_seq": "KARRPSVTPLVWDDMLRDLP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.185.185", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 187, "end_pos": 187, "site_seq": "A", "up_seq": "QNSTGKLCLSHMRAVASGVK", "down_seq": "RRPSVTPLVWDDMLRDLPED", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.187.187", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 188, "end_pos": 188, "site_seq": "R", "up_seq": "NSTGKLCLSHMRAVASGVKA", "down_seq": "RPSVTPLVWDDMLRDLPEDQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.188.188", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 18, "end_pos": 18, "site_seq": "G", "up_seq": "MSGSTPFQMRLVHLDLK", "down_seq": "APPKVSYLSEIFPLFRALGA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.18.18", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 190, "end_pos": 190, "site_seq": "P", "up_seq": "TGKLCLSHMRAVASGVKARR", "down_seq": "SVTPLVWDDMLRDLPEDQLA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.190.190", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 192, "end_pos": 192, "site_seq": "V", "up_seq": "KLCLSHMRAVASGVKARRPS", "down_seq": "TPLVWDDMLRDLPEDQLAAS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.192.192", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 193, "end_pos": 193, "site_seq": "T", "up_seq": "LCLSHMRAVASGVKARRPSV", "down_seq": "PLVWDDMLRDLPEDQLAASG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.193.193", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 194, "end_pos": 194, "site_seq": "P", "up_seq": "CLSHMRAVASGVKARRPSVT", "down_seq": "LVWDDMLRDLPEDQLAASGV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.194.194", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 195, "end_pos": 195, "site_seq": "L", "up_seq": "LSHMRAVASGVKARRPSVTP", "down_seq": "VWDDMLRDLPEDQLAASGVP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.195.195", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 196, "end_pos": 196, "site_seq": "V", "up_seq": "SHMRAVASGVKARRPSVTPL", "down_seq": "WDDMLRDLPEDQLAASGVPQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.196.196", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 197, "end_pos": 197, "site_seq": "W", "up_seq": "HMRAVASGVKARRPSVTPLV", "down_seq": "DDMLRDLPEDQLAASGVPQL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.197.197", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 199, "end_pos": 199, "site_seq": "D", "up_seq": "RAVASGVKARRPSVTPLVWD", "down_seq": "MLRDLPEDQLAASGVPQLVE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.199.199", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 19, "end_pos": 19, "site_seq": "A", "up_seq": "MSGSTPFQMRLVHLDLKG", "down_seq": "PPKVSYLSEIFPLFRALGAN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.19.19", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 200, "end_pos": 200, "site_seq": "M", "up_seq": "AVASGVKARRPSVTPLVWDD", "down_seq": "LRDLPEDQLAASGVPQLVEP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.200.200", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 201, "end_pos": 201, "site_seq": "L", "up_seq": "VASGVKARRPSVTPLVWDDM", "down_seq": "RDLPEDQLAASGVPQLVEPV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.201.201", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 203, "end_pos": 203, "site_seq": "D", "up_seq": "SGVKARRPSVTPLVWDDMLR", "down_seq": "LPEDQLAASGVPQLVEPVLW", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.203.203", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 205, "end_pos": 205, "site_seq": "P", "up_seq": "VKARRPSVTPLVWDDMLRDL", "down_seq": "EDQLAASGVPQLVEPVLWDY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.205.205", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 208, "end_pos": 208, "site_seq": "Q", "up_seq": "RRPSVTPLVWDDMLRDLPED", "down_seq": "LAASGVPQLVEPVLWDYTAD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.208.208", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 20, "end_pos": 20, "site_seq": "P", "up_seq": "", "down_seq": "PKVSYLSEIFPLFRALGANG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.20.20", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 210, "end_pos": 210, "site_seq": "A", "up_seq": "PSVTPLVWDDMLRDLPEDQL", "down_seq": "ASGVPQLVEPVLWDYTADLD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.210.210", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 211, "end_pos": 211, "site_seq": "A", "up_seq": "SVTPLVWDDMLRDLPEDQLA", "down_seq": "SGVPQLVEPVLWDYTADLDV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.211.211", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 213, "end_pos": 213, "site_seq": "G", "up_seq": "TPLVWDDMLRDLPEDQLAAS", "down_seq": "VPQLVEPVLWDYTADLDVHG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.213.213", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 214, "end_pos": 214, "site_seq": "V", "up_seq": "PLVWDDMLRDLPEDQLAASG", "down_seq": "PQLVEPVLWDYTADLDVHGK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.214.214", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 215, "end_pos": 215, "site_seq": "P", "up_seq": "LVWDDMLRDLPEDQLAASGV", "down_seq": "QLVEPVLWDYTADLDVHGKV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.215.215", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 216, "end_pos": 216, "site_seq": "Q", "up_seq": "VWDDMLRDLPEDQLAASGVP", "down_seq": "LVEPVLWDYTADLDVHGKVL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.216.216", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 218, "end_pos": 218, "site_seq": "V", "up_seq": "DDMLRDLPEDQLAASGVPQL", "down_seq": "EPVLWDYTADLDVHGKVLLM", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.218.218", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 219, "end_pos": 219, "site_seq": "E", "up_seq": "DMLRDLPEDQLAASGVPQLV", "down_seq": "PVLWDYTADLDVHGKVLLMQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.219.219", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 21, "end_pos": 21, "site_seq": "P", "up_seq": "MSGSTPFQMRLVHLDLKGAP", "down_seq": "KVSYLSEIFPLFRALGANGL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.21.21", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 220, "end_pos": 220, "site_seq": "P", "up_seq": "MLRDLPEDQLAASGVPQLVE", "down_seq": "VLWDYTADLDVHGKVLLMQK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.220.220", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 221, "end_pos": 221, "site_seq": "V", "up_seq": "LRDLPEDQLAASGVPQLVEP", "down_seq": "LWDYTADLDVHGKVLLMQKY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.221.221", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 222, "end_pos": 222, "site_seq": "L", "up_seq": "RDLPEDQLAASGVPQLVEPV", "down_seq": "WDYTADLDVHGKVLLMQKYR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.222.222", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 223, "end_pos": 223, "site_seq": "W", "up_seq": "DLPEDQLAASGVPQLVEPVL", "down_seq": "DYTADLDVHGKVLLMQKYRR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.223.223", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 224, "end_pos": 224, "site_seq": "D", "up_seq": "LPEDQLAASGVPQLVEPVLW", "down_seq": "YTADLDVHGKVLLMQKYRRC", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.224.224", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 226, "end_pos": 226, "site_seq": "T", "up_seq": "EDQLAASGVPQLVEPVLWDY", "down_seq": "ADLDVHGKVLLMQKYRRCGF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.226.226", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 227, "end_pos": 227, "site_seq": "A", "up_seq": "DQLAASGVPQLVEPVLWDYT", "down_seq": "DLDVHGKVLLMQKYRRCGFP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.227.227", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 228, "end_pos": 228, "site_seq": "D", "up_seq": "QLAASGVPQLVEPVLWDYTA", "down_seq": "LDVHGKVLLMQKYRRCGFPQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.228.228", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 229, "end_pos": 229, "site_seq": "L", "up_seq": "LAASGVPQLVEPVLWDYTAD", "down_seq": "DVHGKVLLMQKYRRCGFPQL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.229.229", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 230, "end_pos": 230, "site_seq": "D", "up_seq": "AASGVPQLVEPVLWDYTADL", "down_seq": "VHGKVLLMQKYRRCGFPQLW", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.230.230", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 231, "end_pos": 231, "site_seq": "V", "up_seq": "ASGVPQLVEPVLWDYTADLD", "down_seq": "HGKVLLMQKYRRCGFPQLWA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.231.231", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 232, "end_pos": 232, "site_seq": "H", "up_seq": "SGVPQLVEPVLWDYTADLDV", "down_seq": "GKVLLMQKYRRCGFPQLWAA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.232.232", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 233, "end_pos": 233, "site_seq": "G", "up_seq": "GVPQLVEPVLWDYTADLDVH", "down_seq": "KVLLMQKYRRCGFPQLWAAS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.233.233", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 234, "end_pos": 234, "site_seq": "K", "up_seq": "VPQLVEPVLWDYTADLDVHG", "down_seq": "VLLMQKYRRCGFPQLWAASA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.234.234", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 236, "end_pos": 236, "site_seq": "L", "up_seq": "QLVEPVLWDYTADLDVHGKV", "down_seq": "LMQKYRRCGFPQLWAASAFK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.236.236", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 238, "end_pos": 238, "site_seq": "M", "up_seq": "VEPVLWDYTADLDVHGKVLL", "down_seq": "QKYRRCGFPQLWAASAFKGA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.238.238", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 239, "end_pos": 239, "site_seq": "Q", "up_seq": "EPVLWDYTADLDVHGKVLLM", "down_seq": "KYRRCGFPQLWAASAFKGAT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.239.239", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 23, "end_pos": 23, "site_seq": "V", "up_seq": "GSTPFQMRLVHLDLKGAPPK", "down_seq": "SYLSEIFPLFRALGANGLLI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.23.23", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 241, "end_pos": 241, "site_seq": "Y", "up_seq": "VLWDYTADLDVHGKVLLMQK", "down_seq": "RRCGFPQLWAASAFKGATGP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.241.241", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 242, "end_pos": 242, "site_seq": "R", "up_seq": "LWDYTADLDVHGKVLLMQKY", "down_seq": "RCGFPQLWAASAFKGATGPS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.242.242", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 243, "end_pos": 243, "site_seq": "R", "up_seq": "WDYTADLDVHGKVLLMQKYR", "down_seq": "CGFPQLWAASAFKGATGPSQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.243.243", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 244, "end_pos": 244, "site_seq": "C", "up_seq": "DYTADLDVHGKVLLMQKYRR", "down_seq": "GFPQLWAASAFKGATGPSQA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.244.244", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 245, "end_pos": 245, "site_seq": "G", "up_seq": "YTADLDVHGKVLLMQKYRRC", "down_seq": "FPQLWAASAFKGATGPSQAV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.245.245", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 246, "end_pos": 246, "site_seq": "F", "up_seq": "TADLDVHGKVLLMQKYRRCG", "down_seq": "PQLWAASAFKGATGPSQAVP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.246.246", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 247, "end_pos": 247, "site_seq": "P", "up_seq": "ADLDVHGKVLLMQKYRRCGF", "down_seq": "QLWAASAFKGATGPSQAVPP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.247.247", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 248, "end_pos": 248, "site_seq": "Q", "up_seq": "DLDVHGKVLLMQKYRRCGFP", "down_seq": "LWAASAFKGATGPSQAVPPV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.248.248", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 24, "end_pos": 24, "site_seq": "S", "up_seq": "STPFQMRLVHLDLKGAPPKV", "down_seq": "YLSEIFPLFRALGANGLLIE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.24.24", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 250, "end_pos": 250, "site_seq": "W", "up_seq": "DVHGKVLLMQKYRRCGFPQL", "down_seq": "AASAFKGATGPSQAVPPVEH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.250.250", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 251, "end_pos": 251, "site_seq": "A", "up_seq": "VHGKVLLMQKYRRCGFPQLW", "down_seq": "ASAFKGATGPSQAVPPVEHH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.251.251", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 252, "end_pos": 252, "site_seq": "A", "up_seq": "HGKVLLMQKYRRCGFPQLWA", "down_seq": "SAFKGATGPSQAVPPVEHHL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.252.252", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 254, "end_pos": 254, "site_seq": "A", "up_seq": "KVLLMQKYRRCGFPQLWAAS", "down_seq": "FKGATGPSQAVPPVEHHLRN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.254.254", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 255, "end_pos": 255, "site_seq": "F", "up_seq": "VLLMQKYRRCGFPQLWAASA", "down_seq": "KGATGPSQAVPPVEHHLRNH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.255.255", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 256, "end_pos": 256, "site_seq": "K", "up_seq": "LLMQKYRRCGFPQLWAASAF", "down_seq": "GATGPSQAVPPVEHHLRNHV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.256.256", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 259, "end_pos": 259, "site_seq": "T", "up_seq": "QKYRRCGFPQLWAASAFKGA", "down_seq": "GPSQAVPPVEHHLRNHVQWL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.259.259", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 25, "end_pos": 25, "site_seq": "Y", "up_seq": "TPFQMRLVHLDLKGAPPKVS", "down_seq": "LSEIFPLFRALGANGLLIEY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.25.25", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 260, "end_pos": 260, "site_seq": "G", "up_seq": "KYRRCGFPQLWAASAFKGAT", "down_seq": "PSQAVPPVEHHLRNHVQWLQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.260.260", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 261, "end_pos": 261, "site_seq": "P", "up_seq": "YRRCGFPQLWAASAFKGATG", "down_seq": "SQAVPPVEHHLRNHVQWLQV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.261.261", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 262, "end_pos": 262, "site_seq": "S", "up_seq": "RRCGFPQLWAASAFKGATGP", "down_seq": "QAVPPVEHHLRNHVQWLQVA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.262.262", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 263, "end_pos": 263, "site_seq": "Q", "up_seq": "RCGFPQLWAASAFKGATGPS", "down_seq": "AVPPVEHHLRNHVQWLQVAG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.263.263", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 264, "end_pos": 264, "site_seq": "A", "up_seq": "CGFPQLWAASAFKGATGPSQ", "down_seq": "VPPVEHHLRNHVQWLQVAGS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.264.264", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 265, "end_pos": 265, "site_seq": "V", "up_seq": "GFPQLWAASAFKGATGPSQA", "down_seq": "PPVEHHLRNHVQWLQVAGSG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.265.265", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 266, "end_pos": 266, "site_seq": "P", "up_seq": "FPQLWAASAFKGATGPSQAV", "down_seq": "PVEHHLRNHVQWLQVAGSGP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.266.266", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 267, "end_pos": 267, "site_seq": "P", "up_seq": "PQLWAASAFKGATGPSQAVP", "down_seq": "VEHHLRNHVQWLQVAGSGPT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.267.267", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 26, "end_pos": 26, "site_seq": "L", "up_seq": "PFQMRLVHLDLKGAPPKVSY", "down_seq": "SEIFPLFRALGANGLLIEYE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.26.26", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 270, "end_pos": 270, "site_seq": "H", "up_seq": "WAASAFKGATGPSQAVPPVE", "down_seq": "HLRNHVQWLQVAGSGPTDSL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.270.270", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 272, "end_pos": 272, "site_seq": "L", "up_seq": "ASAFKGATGPSQAVPPVEHH", "down_seq": "RNHVQWLQVAGSGPTDSLQG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.272.272", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 273, "end_pos": 273, "site_seq": "R", "up_seq": "SAFKGATGPSQAVPPVEHHL", "down_seq": "NHVQWLQVAGSGPTDSLQGI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.273.273", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 274, "end_pos": 274, "site_seq": "N", "up_seq": "AFKGATGPSQAVPPVEHHLR", "down_seq": "HVQWLQVAGSGPTDSLQGII", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.274.274", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 275, "end_pos": 275, "site_seq": "H", "up_seq": "FKGATGPSQAVPPVEHHLRN", "down_seq": "VQWLQVAGSGPTDSLQGIIL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.275.275", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 276, "end_pos": 276, "site_seq": "V", "up_seq": "KGATGPSQAVPPVEHHLRNH", "down_seq": "QWLQVAGSGPTDSLQGIILT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.276.276", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 277, "end_pos": 277, "site_seq": "Q", "up_seq": "GATGPSQAVPPVEHHLRNHV", "down_seq": "WLQVAGSGPTDSLQGIILTG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.277.277", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 281, "end_pos": 281, "site_seq": "V", "up_seq": "PSQAVPPVEHHLRNHVQWLQ", "down_seq": "AGSGPTDSLQGIILTGWQRY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.281.281", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 282, "end_pos": 282, "site_seq": "A", "up_seq": "SQAVPPVEHHLRNHVQWLQV", "down_seq": "GSGPTDSLQGIILTGWQRYD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.282.282", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 283, "end_pos": 283, "site_seq": "G", "up_seq": "QAVPPVEHHLRNHVQWLQVA", "down_seq": "SGPTDSLQGIILTGWQRYDH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.283.283", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 285, "end_pos": 285, "site_seq": "G", "up_seq": "VPPVEHHLRNHVQWLQVAGS", "down_seq": "PTDSLQGIILTGWQRYDHYS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.285.285", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 286, "end_pos": 286, "site_seq": "P", "up_seq": "PPVEHHLRNHVQWLQVAGSG", "down_seq": "TDSLQGIILTGWQRYDHYSV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.286.286", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 288, "end_pos": 288, "site_seq": "D", "up_seq": "VEHHLRNHVQWLQVAGSGPT", "down_seq": "SLQGIILTGWQRYDHYSVLC", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.288.288", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 289, "end_pos": 289, "site_seq": "S", "up_seq": "EHHLRNHVQWLQVAGSGPTD", "down_seq": "LQGIILTGWQRYDHYSVLCE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.289.289", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 28, "end_pos": 28, "site_seq": "E", "up_seq": "QMRLVHLDLKGAPPKVSYLS", "down_seq": "IFPLFRALGANGLLIEYEDM", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.28.28", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 290, "end_pos": 290, "site_seq": "L", "up_seq": "HHLRNHVQWLQVAGSGPTDS", "down_seq": "QGIILTGWQRYDHYSVLCEL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.290.290", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 291, "end_pos": 291, "site_seq": "Q", "up_seq": "HLRNHVQWLQVAGSGPTDSL", "down_seq": "GIILTGWQRYDHYSVLCELL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.291.291", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 292, "end_pos": 292, "site_seq": "G", "up_seq": "LRNHVQWLQVAGSGPTDSLQ", "down_seq": "IILTGWQRYDHYSVLCELLP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.292.292", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 294, "end_pos": 294, "site_seq": "I", "up_seq": "NHVQWLQVAGSGPTDSLQGI", "down_seq": "LTGWQRYDHYSVLCELLPAG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.294.294", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 295, "end_pos": 295, "site_seq": "L", "up_seq": "HVQWLQVAGSGPTDSLQGII", "down_seq": "TGWQRYDHYSVLCELLPAGV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.295.295", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 297, "end_pos": 297, "site_seq": "G", "up_seq": "QWLQVAGSGPTDSLQGIILT", "down_seq": "WQRYDHYSVLCELLPAGVPS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.297.297", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 301, "end_pos": 301, "site_seq": "Y", "up_seq": "VAGSGPTDSLQGIILTGWQR", "down_seq": "DHYSVLCELLPAGVPSLAAC", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.301.301", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 302, "end_pos": 302, "site_seq": "D", "up_seq": "AGSGPTDSLQGIILTGWQRY", "down_seq": "HYSVLCELLPAGVPSLAACL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.302.302", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 305, "end_pos": 305, "site_seq": "S", "up_seq": "GPTDSLQGIILTGWQRYDHY", "down_seq": "VLCELLPAGVPSLAACLQLL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.305.305", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 306, "end_pos": 306, "site_seq": "V", "up_seq": "PTDSLQGIILTGWQRYDHYS", "down_seq": "LCELLPAGVPSLAACLQLLL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.306.306", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 308, "end_pos": 308, "site_seq": "C", "up_seq": "DSLQGIILTGWQRYDHYSVL", "down_seq": "ELLPAGVPSLAACLQLLLRG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.308.308", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 309, "end_pos": 309, "site_seq": "E", "up_seq": "SLQGIILTGWQRYDHYSVLC", "down_seq": "LLPAGVPSLAACLQLLLRGG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.309.309", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 30, "end_pos": 30, "site_seq": "F", "up_seq": "RLVHLDLKGAPPKVSYLSEI", "down_seq": "PLFRALGANGLLIEYEDMFP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.30.30", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 313, "end_pos": 313, "site_seq": "A", "up_seq": "IILTGWQRYDHYSVLCELLP", "down_seq": "GVPSLAACLQLLLRGGFDED", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.313.313", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 315, "end_pos": 315, "site_seq": "V", "up_seq": "LTGWQRYDHYSVLCELLPAG", "down_seq": "PSLAACLQLLLRGGFDEDVK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.315.315", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 316, "end_pos": 316, "site_seq": "P", "up_seq": "TGWQRYDHYSVLCELLPAGV", "down_seq": "SLAACLQLLLRGGFDEDVKA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.316.316", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 317, "end_pos": 317, "site_seq": "S", "up_seq": "GWQRYDHYSVLCELLPAGVP", "down_seq": "LAACLQLLLRGGFDEDVKAK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.317.317", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 319, "end_pos": 319, "site_seq": "A", "up_seq": "QRYDHYSVLCELLPAGVPSL", "down_seq": "ACLQLLLRGGFDEDVKAKVE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.319.319", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 31, "end_pos": 31, "site_seq": "P", "up_seq": "LVHLDLKGAPPKVSYLSEIF", "down_seq": "LFRALGANGLLIEYEDMFPY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.31.31", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 320, "end_pos": 320, "site_seq": "A", "up_seq": "RYDHYSVLCELLPAGVPSLA", "down_seq": "CLQLLLRGGFDEDVKAKVEN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.320.320", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 321, "end_pos": 321, "site_seq": "C", "up_seq": "YDHYSVLCELLPAGVPSLAA", "down_seq": "LQLLLRGGFDEDVKAKVENL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.321.321", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 322, "end_pos": 322, "site_seq": "L", "up_seq": "DHYSVLCELLPAGVPSLAAC", "down_seq": "QLLLRGGFDEDVKAKVENLL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.322.322", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 323, "end_pos": 323, "site_seq": "Q", "up_seq": "HYSVLCELLPAGVPSLAACL", "down_seq": "LLLRGGFDEDVKAKVENLLG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.323.323", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 324, "end_pos": 324, "site_seq": "L", "up_seq": "YSVLCELLPAGVPSLAACLQ", "down_seq": "LLRGGFDEDVKAKVENLLGI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.324.324", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 327, "end_pos": 327, "site_seq": "R", "up_seq": "LCELLPAGVPSLAACLQLLL", "down_seq": "GGFDEDVKAKVENLLGISSL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.327.327", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 328, "end_pos": 328, "site_seq": "G", "up_seq": "CELLPAGVPSLAACLQLLLR", "down_seq": "GFDEDVKAKVENLLGISSLE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.328.328", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 329, "end_pos": 329, "site_seq": "G", "up_seq": "ELLPAGVPSLAACLQLLLRG", "down_seq": "FDEDVKAKVENLLGISSLEK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.329.329", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 32, "end_pos": 32, "site_seq": "L", "up_seq": "VHLDLKGAPPKVSYLSEIFP", "down_seq": "FRALGANGLLIEYEDMFPYE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.32.32", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 330, "end_pos": 330, "site_seq": "F", "up_seq": "LLPAGVPSLAACLQLLLRGG", "down_seq": "DEDVKAKVENLLGISSLEKT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.330.330", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 331, "end_pos": 331, "site_seq": "D", "up_seq": "LPAGVPSLAACLQLLLRGGF", "down_seq": "EDVKAKVENLLGISSLEKTD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.331.331", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 332, "end_pos": 332, "site_seq": "E", "up_seq": "PAGVPSLAACLQLLLRGGFD", "down_seq": "DVKAKVENLLGISSLEKTDP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.332.332", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 333, "end_pos": 333, "site_seq": "D", "up_seq": "AGVPSLAACLQLLLRGGFDE", "down_seq": "VKAKVENLLGISSLEKTDPV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.333.333", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 335, "end_pos": 335, "site_seq": "K", "up_seq": "VPSLAACLQLLLRGGFDEDV", "down_seq": "AKVENLLGISSLEKTDPVRE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.335.335", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 336, "end_pos": 336, "site_seq": "A", "up_seq": "PSLAACLQLLLRGGFDEDVK", "down_seq": "KVENLLGISSLEKTDPVREG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.336.336", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 337, "end_pos": 337, "site_seq": "K", "up_seq": "SLAACLQLLLRGGFDEDVKA", "down_seq": "VENLLGISSLEKTDPVREGA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.337.337", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 338, "end_pos": 338, "site_seq": "V", "up_seq": "LAACLQLLLRGGFDEDVKAK", "down_seq": "ENLLGISSLEKTDPVREGAG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.338.338", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 339, "end_pos": 339, "site_seq": "E", "up_seq": "AACLQLLLRGGFDEDVKAKV", "down_seq": "NLLGISSLEKTDPVREGAGS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.339.339", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 33, "end_pos": 33, "site_seq": "F", "up_seq": "HLDLKGAPPKVSYLSEIFPL", "down_seq": "RALGANGLLIEYEDMFPYEG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.33.33", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 340, "end_pos": 340, "site_seq": "N", "up_seq": "ACLQLLLRGGFDEDVKAKVE", "down_seq": "LLGISSLEKTDPVREGAGSF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.340.340", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 341, "end_pos": 341, "site_seq": "L", "up_seq": "CLQLLLRGGFDEDVKAKVEN", "down_seq": "LGISSLEKTDPVREGAGSFP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.341.341", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 343, "end_pos": 343, "site_seq": "G", "up_seq": "QLLLRGGFDEDVKAKVENLL", "down_seq": "ISSLEKTDPVREGAGSFPGS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.343.343", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 345, "end_pos": 345, "site_seq": "S", "up_seq": "LLRGGFDEDVKAKVENLLGI", "down_seq": "SLEKTDPVREGAGSFPGSNI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.345.345", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 346, "end_pos": 346, "site_seq": "S", "up_seq": "LRGGFDEDVKAKVENLLGIS", "down_seq": "LEKTDPVREGAGSFPGSNIL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.346.346", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 347, "end_pos": 347, "site_seq": "L", "up_seq": "RGGFDEDVKAKVENLLGISS", "down_seq": "EKTDPVREGAGSFPGSNILA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.347.347", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 348, "end_pos": 348, "site_seq": "E", "up_seq": "GGFDEDVKAKVENLLGISSL", "down_seq": "KTDPVREGAGSFPGSNILAL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.348.348", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 349, "end_pos": 349, "site_seq": "K", "up_seq": "GFDEDVKAKVENLLGISSLE", "down_seq": "TDPVREGAGSFPGSNILALV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.349.349", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 34, "end_pos": 34, "site_seq": "R", "up_seq": "LDLKGAPPKVSYLSEIFPLF", "down_seq": "ALGANGLLIEYEDMFPYEGP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.34.34", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 350, "end_pos": 350, "site_seq": "T", "up_seq": "FDEDVKAKVENLLGISSLEK", "down_seq": "DPVREGAGSFPGSNILALVT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.350.350", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 352, "end_pos": 352, "site_seq": "P", "up_seq": "EDVKAKVENLLGISSLEKTD", "down_seq": "VREGAGSFPGSNILALVTQV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.352.352", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 353, "end_pos": 353, "site_seq": "V", "up_seq": "DVKAKVENLLGISSLEKTDP", "down_seq": "REGAGSFPGSNILALVTQVS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.353.353", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 354, "end_pos": 354, "site_seq": "R", "up_seq": "VKAKVENLLGISSLEKTDPV", "down_seq": "EGAGSFPGSNILALVTQVSL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.354.354", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 355, "end_pos": 355, "site_seq": "E", "up_seq": "KAKVENLLGISSLEKTDPVR", "down_seq": "GAGSFPGSNILALVTQVSLH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.355.355", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 356, "end_pos": 356, "site_seq": "G", "up_seq": "AKVENLLGISSLEKTDPVRE", "down_seq": "AGSFPGSNILALVTQVSLHL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.356.356", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 358, "end_pos": 358, "site_seq": "G", "up_seq": "VENLLGISSLEKTDPVREGA", "down_seq": "SFPGSNILALVTQVSLHLRS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.358.358", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 359, "end_pos": 359, "site_seq": "S", "up_seq": "ENLLGISSLEKTDPVREGAG", "down_seq": "FPGSNILALVTQVSLHLRSS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.359.359", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 35, "end_pos": 35, "site_seq": "A", "up_seq": "DLKGAPPKVSYLSEIFPLFR", "down_seq": "LGANGLLIEYEDMFPYEGPL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.35.35", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 360, "end_pos": 360, "site_seq": "F", "up_seq": "NLLGISSLEKTDPVREGAGS", "down_seq": "PGSNILALVTQVSLHLRSSV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.360.360", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 361, "end_pos": 361, "site_seq": "P", "up_seq": "LLGISSLEKTDPVREGAGSF", "down_seq": "GSNILALVTQVSLHLRSSVD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.361.361", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 363, "end_pos": 363, "site_seq": "S", "up_seq": "GISSLEKTDPVREGAGSFPG", "down_seq": "NILALVTQVSLHLRSSVDAL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.363.363", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 364, "end_pos": 364, "site_seq": "N", "up_seq": "ISSLEKTDPVREGAGSFPGS", "down_seq": "ILALVTQVSLHLRSSVDALL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.364.364", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 365, "end_pos": 365, "site_seq": "I", "up_seq": "SSLEKTDPVREGAGSFPGSN", "down_seq": "LALVTQVSLHLRSSVDALLE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.365.365", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 366, "end_pos": 366, "site_seq": "L", "up_seq": "SLEKTDPVREGAGSFPGSNI", "down_seq": "ALVTQVSLHLRSSVDALLEG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.366.366", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 367, "end_pos": 367, "site_seq": "A", "up_seq": "LEKTDPVREGAGSFPGSNIL", "down_seq": "LVTQVSLHLRSSVDALLEGN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.367.367", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 368, "end_pos": 368, "site_seq": "L", "up_seq": "EKTDPVREGAGSFPGSNILA", "down_seq": "VTQVSLHLRSSVDALLEGNR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.368.368", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 369, "end_pos": 369, "site_seq": "V", "up_seq": "KTDPVREGAGSFPGSNILAL", "down_seq": "TQVSLHLRSSVDALLEGNRY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.369.369", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 36, "end_pos": 36, "site_seq": "L", "up_seq": "LKGAPPKVSYLSEIFPLFRA", "down_seq": "GANGLLIEYEDMFPYEGPLR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.36.36", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 370, "end_pos": 370, "site_seq": "T", "up_seq": "TDPVREGAGSFPGSNILALV", "down_seq": "QVSLHLRSSVDALLEGNRYV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.370.370", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 371, "end_pos": 371, "site_seq": "Q", "up_seq": "DPVREGAGSFPGSNILALVT", "down_seq": "VSLHLRSSVDALLEGNRYVT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.371.371", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 372, "end_pos": 372, "site_seq": "V", "up_seq": "PVREGAGSFPGSNILALVTQ", "down_seq": "SLHLRSSVDALLEGNRYVTG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.372.372", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 373, "end_pos": 373, "site_seq": "S", "up_seq": "VREGAGSFPGSNILALVTQV", "down_seq": "LHLRSSVDALLEGNRYVTGW", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.373.373", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 374, "end_pos": 374, "site_seq": "L", "up_seq": "REGAGSFPGSNILALVTQVS", "down_seq": "HLRSSVDALLEGNRYVTGWF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.374.374", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 375, "end_pos": 375, "site_seq": "H", "up_seq": "EGAGSFPGSNILALVTQVSL", "down_seq": "LRSSVDALLEGNRYVTGWFS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.375.375", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 376, "end_pos": 376, "site_seq": "L", "up_seq": "GAGSFPGSNILALVTQVSLH", "down_seq": "RSSVDALLEGNRYVTGWFSP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.376.376", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 377, "end_pos": 377, "site_seq": "R", "up_seq": "AGSFPGSNILALVTQVSLHL", "down_seq": "SSVDALLEGNRYVTGWFSPY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.377.377", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 378, "end_pos": 378, "site_seq": "S", "up_seq": "GSFPGSNILALVTQVSLHLR", "down_seq": "SVDALLEGNRYVTGWFSPYH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.378.378", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 37, "end_pos": 37, "site_seq": "G", "up_seq": "KGAPPKVSYLSEIFPLFRAL", "down_seq": "ANGLLIEYEDMFPYEGPLRL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.37.37", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 380, "end_pos": 380, "site_seq": "V", "up_seq": "FPGSNILALVTQVSLHLRSS", "down_seq": "DALLEGNRYVTGWFSPYHRQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.380.380", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 381, "end_pos": 381, "site_seq": "D", "up_seq": "PGSNILALVTQVSLHLRSSV", "down_seq": "ALLEGNRYVTGWFSPYHRQR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.381.381", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 382, "end_pos": 382, "site_seq": "A", "up_seq": "GSNILALVTQVSLHLRSSVD", "down_seq": "LLEGNRYVTGWFSPYHRQRK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.382.382", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 386, "end_pos": 386, "site_seq": "G", "up_seq": "LALVTQVSLHLRSSVDALLE", "down_seq": "NRYVTGWFSPYHRQRKLIHP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.386.386", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 387, "end_pos": 387, "site_seq": "N", "up_seq": "ALVTQVSLHLRSSVDALLEG", "down_seq": "RYVTGWFSPYHRQRKLIHPV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.387.387", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 392, "end_pos": 392, "site_seq": "G", "up_seq": "VSLHLRSSVDALLEGNRYVT", "down_seq": "WFSPYHRQRKLIHPVMVQHI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.392.392", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 394, "end_pos": 394, "site_seq": "F", "up_seq": "LHLRSSVDALLEGNRYVTGW", "down_seq": "SPYHRQRKLIHPVMVQHIQP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.394.394", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 395, "end_pos": 395, "site_seq": "S", "up_seq": "HLRSSVDALLEGNRYVTGWF", "down_seq": "PYHRQRKLIHPVMVQHIQPA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.395.395", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 396, "end_pos": 396, "site_seq": "P", "up_seq": "LRSSVDALLEGNRYVTGWFS", "down_seq": "YHRQRKLIHPVMVQHIQPAA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.396.396", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 397, "end_pos": 397, "site_seq": "Y", "up_seq": "RSSVDALLEGNRYVTGWFSP", "down_seq": "HRQRKLIHPVMVQHIQPAAL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.397.397", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 398, "end_pos": 398, "site_seq": "H", "up_seq": "SSVDALLEGNRYVTGWFSPY", "down_seq": "RQRKLIHPVMVQHIQPAALS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.398.398", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 399, "end_pos": 399, "site_seq": "R", "up_seq": "SVDALLEGNRYVTGWFSPYH", "down_seq": "QRKLIHPVMVQHIQPAALSL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.399.399", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 39, "end_pos": 39, "site_seq": "N", "up_seq": "APPKVSYLSEIFPLFRALGA", "down_seq": "GLLIEYEDMFPYEGPLRLLR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.39.39", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 400, "end_pos": 400, "site_seq": "Q", "up_seq": "VDALLEGNRYVTGWFSPYHR", "down_seq": "RKLIHPVMVQHIQPAALSLL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.400.400", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 401, "end_pos": 401, "site_seq": "R", "up_seq": "DALLEGNRYVTGWFSPYHRQ", "down_seq": "KLIHPVMVQHIQPAALSLLA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.401.401", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 402, "end_pos": 402, "site_seq": "K", "up_seq": "ALLEGNRYVTGWFSPYHRQR", "down_seq": "LIHPVMVQHIQPAALSLLAQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.402.402", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 403, "end_pos": 403, "site_seq": "L", "up_seq": "LLEGNRYVTGWFSPYHRQRK", "down_seq": "IHPVMVQHIQPAALSLLAQW", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.403.403", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 405, "end_pos": 405, "site_seq": "H", "up_seq": "EGNRYVTGWFSPYHRQRKLI", "down_seq": "PVMVQHIQPAALSLLAQWST", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.405.405", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 406, "end_pos": 406, "site_seq": "P", "up_seq": "GNRYVTGWFSPYHRQRKLIH", "down_seq": "VMVQHIQPAALSLLAQWSTL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.406.406", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 407, "end_pos": 407, "site_seq": "V", "up_seq": "NRYVTGWFSPYHRQRKLIHP", "down_seq": "MVQHIQPAALSLLAQWSTLV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.407.407", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 408, "end_pos": 408, "site_seq": "M", "up_seq": "RYVTGWFSPYHRQRKLIHPV", "down_seq": "VQHIQPAALSLLAQWSTLVQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.408.408", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 409, "end_pos": 409, "site_seq": "V", "up_seq": "YVTGWFSPYHRQRKLIHPVM", "down_seq": "QHIQPAALSLLAQWSTLVQE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.409.409", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 410, "end_pos": 410, "site_seq": "Q", "up_seq": "VTGWFSPYHRQRKLIHPVMV", "down_seq": "HIQPAALSLLAQWSTLVQEL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.410.410", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 412, "end_pos": 412, "site_seq": "I", "up_seq": "GWFSPYHRQRKLIHPVMVQH", "down_seq": "QPAALSLLAQWSTLVQELEA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.412.412", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 414, "end_pos": 414, "site_seq": "P", "up_seq": "FSPYHRQRKLIHPVMVQHIQ", "down_seq": "AALSLLAQWSTLVQELEAAL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.414.414", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 415, "end_pos": 415, "site_seq": "A", "up_seq": "SPYHRQRKLIHPVMVQHIQP", "down_seq": "ALSLLAQWSTLVQELEAALQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.415.415", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 416, "end_pos": 416, "site_seq": "A", "up_seq": "PYHRQRKLIHPVMVQHIQPA", "down_seq": "LSLLAQWSTLVQELEAALQL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.416.416", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 418, "end_pos": 418, "site_seq": "S", "up_seq": "HRQRKLIHPVMVQHIQPAAL", "down_seq": "LLAQWSTLVQELEAALQLAF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.418.418", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 41, "end_pos": 41, "site_seq": "L", "up_seq": "PKVSYLSEIFPLFRALGANG", "down_seq": "LIEYEDMFPYEGPLRLLRAK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.41.41", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 422, "end_pos": 422, "site_seq": "Q", "up_seq": "KLIHPVMVQHIQPAALSLLA", "down_seq": "WSTLVQELEAALQLAFYPDA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.422.422", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 423, "end_pos": 423, "site_seq": "W", "up_seq": "LIHPVMVQHIQPAALSLLAQ", "down_seq": "STLVQELEAALQLAFYPDAV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.423.423", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 424, "end_pos": 424, "site_seq": "S", "up_seq": "IHPVMVQHIQPAALSLLAQW", "down_seq": "TLVQELEAALQLAFYPDAVE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.424.424", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 425, "end_pos": 425, "site_seq": "T", "up_seq": "HPVMVQHIQPAALSLLAQWS", "down_seq": "LVQELEAALQLAFYPDAVEE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.425.425", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 427, "end_pos": 427, "site_seq": "V", "up_seq": "VMVQHIQPAALSLLAQWSTL", "down_seq": "QELEAALQLAFYPDAVEEWL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.427.427", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 429, "end_pos": 429, "site_seq": "E", "up_seq": "VQHIQPAALSLLAQWSTLVQ", "down_seq": "LEAALQLAFYPDAVEEWLEE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.429.429", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 430, "end_pos": 430, "site_seq": "L", "up_seq": "QHIQPAALSLLAQWSTLVQE", "down_seq": "EAALQLAFYPDAVEEWLEEN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.430.430", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 431, "end_pos": 431, "site_seq": "E", "up_seq": "HIQPAALSLLAQWSTLVQEL", "down_seq": "AALQLAFYPDAVEEWLEENV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.431.431", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 432, "end_pos": 432, "site_seq": "A", "up_seq": "IQPAALSLLAQWSTLVQELE", "down_seq": "ALQLAFYPDAVEEWLEENVH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.432.432", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 433, "end_pos": 433, "site_seq": "A", "up_seq": "QPAALSLLAQWSTLVQELEA", "down_seq": "LQLAFYPDAVEEWLEENVHP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.433.433", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 435, "end_pos": 435, "site_seq": "Q", "up_seq": "AALSLLAQWSTLVQELEAAL", "down_seq": "LAFYPDAVEEWLEENVHPSL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.435.435", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 437, "end_pos": 437, "site_seq": "A", "up_seq": "LSLLAQWSTLVQELEAALQL", "down_seq": "FYPDAVEEWLEENVHPSLQR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.437.437", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 43, "end_pos": 43, "site_seq": "I", "up_seq": "VSYLSEIFPLFRALGANGLL", "down_seq": "EYEDMFPYEGPLRLLRAKYA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.43.43", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 440, "end_pos": 440, "site_seq": "P", "up_seq": "LAQWSTLVQELEAALQLAFY", "down_seq": "DAVEEWLEENVHPSLQRLQA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.440.440", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 441, "end_pos": 441, "site_seq": "D", "up_seq": "AQWSTLVQELEAALQLAFYP", "down_seq": "AVEEWLEENVHPSLQRLQAL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.441.441", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 443, "end_pos": 443, "site_seq": "V", "up_seq": "WSTLVQELEAALQLAFYPDA", "down_seq": "EEWLEENVHPSLQRLQALLQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.443.443", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 444, "end_pos": 444, "site_seq": "E", "up_seq": "STLVQELEAALQLAFYPDAV", "down_seq": "EWLEENVHPSLQRLQALLQD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.444.444", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 445, "end_pos": 445, "site_seq": "E", "up_seq": "TLVQELEAALQLAFYPDAVE", "down_seq": "WLEENVHPSLQRLQALLQDL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.445.445", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 448, "end_pos": 448, "site_seq": "E", "up_seq": "QELEAALQLAFYPDAVEEWL", "down_seq": "ENVHPSLQRLQALLQDLSEV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.448.448", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 449, "end_pos": 449, "site_seq": "E", "up_seq": "ELEAALQLAFYPDAVEEWLE", "down_seq": "NVHPSLQRLQALLQDLSEVS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.449.449", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 44, "end_pos": 44, "site_seq": "E", "up_seq": "SYLSEIFPLFRALGANGLLI", "down_seq": "YEDMFPYEGPLRLLRAKYAY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.44.44", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 450, "end_pos": 450, "site_seq": "N", "up_seq": "LEAALQLAFYPDAVEEWLEE", "down_seq": "VHPSLQRLQALLQDLSEVSA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.450.450", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 451, "end_pos": 451, "site_seq": "V", "up_seq": "EAALQLAFYPDAVEEWLEEN", "down_seq": "HPSLQRLQALLQDLSEVSAP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.451.451", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 452, "end_pos": 452, "site_seq": "H", "up_seq": "AALQLAFYPDAVEEWLEENV", "down_seq": "PSLQRLQALLQDLSEVSAPP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.452.452", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 453, "end_pos": 453, "site_seq": "P", "up_seq": "ALQLAFYPDAVEEWLEENVH", "down_seq": "SLQRLQALLQDLSEVSAPPL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.453.453", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 454, "end_pos": 454, "site_seq": "S", "up_seq": "LQLAFYPDAVEEWLEENVHP", "down_seq": "LQRLQALLQDLSEVSAPPLP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.454.454", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 456, "end_pos": 456, "site_seq": "Q", "up_seq": "LAFYPDAVEEWLEENVHPSL", "down_seq": "RLQALLQDLSEVSAPPLPPT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.456.456", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 457, "end_pos": 457, "site_seq": "R", "up_seq": "AFYPDAVEEWLEENVHPSLQ", "down_seq": "LQALLQDLSEVSAPPLPPTS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.457.457", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 459, "end_pos": 459, "site_seq": "Q", "up_seq": "YPDAVEEWLEENVHPSLQRL", "down_seq": "ALLQDLSEVSAPPLPPTSPG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.459.459", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 45, "end_pos": 45, "site_seq": "Y", "up_seq": "YLSEIFPLFRALGANGLLIE", "down_seq": "EDMFPYEGPLRLLRAKYAYS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.45.45", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 460, "end_pos": 460, "site_seq": "A", "up_seq": "PDAVEEWLEENVHPSLQRLQ", "down_seq": "LLQDLSEVSAPPLPPTSPGR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.460.460", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 461, "end_pos": 461, "site_seq": "L", "up_seq": "DAVEEWLEENVHPSLQRLQA", "down_seq": "LQDLSEVSAPPLPPTSPGRD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.461.461", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 462, "end_pos": 462, "site_seq": "L", "up_seq": "AVEEWLEENVHPSLQRLQAL", "down_seq": "QDLSEVSAPPLPPTSPGRDV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.462.462", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 465, "end_pos": 465, "site_seq": "L", "up_seq": "EWLEENVHPSLQRLQALLQD", "down_seq": "SEVSAPPLPPTSPGRDVAQD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.465.465", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 466, "end_pos": 466, "site_seq": "S", "up_seq": "WLEENVHPSLQRLQALLQDL", "down_seq": "EVSAPPLPPTSPGRDVAQDP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.466.466", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 467, "end_pos": 467, "site_seq": "E", "up_seq": "LEENVHPSLQRLQALLQDLS", "down_seq": "VSAPPLPPTSPGRDVAQDP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.467.467", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 468, "end_pos": 468, "site_seq": "V", "up_seq": "EENVHPSLQRLQALLQDLSE", "down_seq": "SAPPLPPTSPGRDVAQDP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.468.468", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 469, "end_pos": 469, "site_seq": "S", "up_seq": "ENVHPSLQRLQALLQDLSEV", "down_seq": "APPLPPTSPGRDVAQDP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.469.469", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 470, "end_pos": 470, "site_seq": "A", "up_seq": "NVHPSLQRLQALLQDLSEVS", "down_seq": "PPLPPTSPGRDVAQDP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.470.470", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 471, "end_pos": 471, "site_seq": "P", "up_seq": "VHPSLQRLQALLQDLSEVSA", "down_seq": "PLPPTSPGRDVAQDP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.471.471", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 472, "end_pos": 472, "site_seq": "P", "up_seq": "HPSLQRLQALLQDLSEVSAP", "down_seq": "LPPTSPGRDVAQDP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.472.472", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 473, "end_pos": 473, "site_seq": "L", "up_seq": "PSLQRLQALLQDLSEVSAPP", "down_seq": "PPTSPGRDVAQDP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.473.473", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 474, "end_pos": 474, "site_seq": "P", "up_seq": "SLQRLQALLQDLSEVSAPPL", "down_seq": "PTSPGRDVAQDP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.474.474", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 475, "end_pos": 475, "site_seq": "P", "up_seq": "LQRLQALLQDLSEVSAPPLP", "down_seq": "TSPGRDVAQDP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.475.475", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 476, "end_pos": 476, "site_seq": "T", "up_seq": "QRLQALLQDLSEVSAPPLPP", "down_seq": "SPGRDVAQDP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.476.476", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 477, "end_pos": 477, "site_seq": "S", "up_seq": "RLQALLQDLSEVSAPPLPPT", "down_seq": "PGRDVAQDP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.477.477", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 478, "end_pos": 478, "site_seq": "P", "up_seq": "LQALLQDLSEVSAPPLPPTS", "down_seq": "GRDVAQDP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.478.478", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 481, "end_pos": 481, "site_seq": "D", "up_seq": "LLQDLSEVSAPPLPPTSPGR", "down_seq": "VAQDP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.481.481", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 482, "end_pos": 482, "site_seq": "V", "up_seq": "LQDLSEVSAPPLPPTSPGRD", "down_seq": "AQDP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.482.482", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 484, "end_pos": 484, "site_seq": "Q", "up_seq": "DLSEVSAPPLPPTSPGRDVA", "down_seq": "DP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.484.484", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 486, "end_pos": 486, "site_seq": "P", "up_seq": "SEVSAPPLPPTSPGRDVAQD", "down_seq": "", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.486.486", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 48, "end_pos": 48, "site_seq": "M", "up_seq": "EIFPLFRALGANGLLIEYED", "down_seq": "FPYEGPLRLLRAKYAYSPSE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.48.48", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 4, "end_pos": 4, "site_seq": "S", "up_seq": "MSG", "down_seq": "TPFQMRLVHLDLKGAPPKVS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.4.4", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 50, "end_pos": 50, "site_seq": "P", "up_seq": "FPLFRALGANGLLIEYEDMF", "down_seq": "YEGPLRLLRAKYAYSPSEIK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.50.50", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 51, "end_pos": 51, "site_seq": "Y", "up_seq": "PLFRALGANGLLIEYEDMFP", "down_seq": "EGPLRLLRAKYAYSPSEIKE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.51.51", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 52, "end_pos": 52, "site_seq": "E", "up_seq": "LFRALGANGLLIEYEDMFPY", "down_seq": "GPLRLLRAKYAYSPSEIKEI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.52.52", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 53, "end_pos": 53, "site_seq": "G", "up_seq": "FRALGANGLLIEYEDMFPYE", "down_seq": "PLRLLRAKYAYSPSEIKEIL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.53.53", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 54, "end_pos": 54, "site_seq": "P", "up_seq": "RALGANGLLIEYEDMFPYEG", "down_seq": "LRLLRAKYAYSPSEIKEILH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.54.54", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 55, "end_pos": 55, "site_seq": "L", "up_seq": "ALGANGLLIEYEDMFPYEGP", "down_seq": "RLLRAKYAYSPSEIKEILHL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.55.55", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 57, "end_pos": 57, "site_seq": "L", "up_seq": "GANGLLIEYEDMFPYEGPLR", "down_seq": "LRAKYAYSPSEIKEILHLAG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.57.57", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 58, "end_pos": 58, "site_seq": "L", "up_seq": "ANGLLIEYEDMFPYEGPLRL", "down_seq": "RAKYAYSPSEIKEILHLAGL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.58.58", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 5, "end_pos": 5, "site_seq": "T", "up_seq": "MSGS", "down_seq": "PFQMRLVHLDLKGAPPKVSY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.5.5", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 60, "end_pos": 60, "site_seq": "A", "up_seq": "GLLIEYEDMFPYEGPLRLLR", "down_seq": "KYAYSPSEIKEILHLAGLNE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.60.60", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 62, "end_pos": 62, "site_seq": "Y", "up_seq": "LIEYEDMFPYEGPLRLLRAK", "down_seq": "AYSPSEIKEILHLAGLNELE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.62.62", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 63, "end_pos": 63, "site_seq": "A", "up_seq": "IEYEDMFPYEGPLRLLRAKY", "down_seq": "YSPSEIKEILHLAGLNELEV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.63.63", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 64, "end_pos": 64, "site_seq": "Y", "up_seq": "EYEDMFPYEGPLRLLRAKYA", "down_seq": "SPSEIKEILHLAGLNELEVI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.64.64", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 65, "end_pos": 65, "site_seq": "S", "up_seq": "YEDMFPYEGPLRLLRAKYAY", "down_seq": "PSEIKEILHLAGLNELEVIP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.65.65", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 66, "end_pos": 66, "site_seq": "P", "up_seq": "EDMFPYEGPLRLLRAKYAYS", "down_seq": "SEIKEILHLAGLNELEVIPL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.66.66", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 68, "end_pos": 68, "site_seq": "E", "up_seq": "MFPYEGPLRLLRAKYAYSPS", "down_seq": "IKEILHLAGLNELEVIPLVQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.68.68", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 69, "end_pos": 69, "site_seq": "I", "up_seq": "FPYEGPLRLLRAKYAYSPSE", "down_seq": "KEILHLAGLNELEVIPLVQT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.69.69", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 6, "end_pos": 6, "site_seq": "P", "up_seq": "MSGST", "down_seq": "FQMRLVHLDLKGAPPKVSYL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.6.6", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 71, "end_pos": 71, "site_seq": "E", "up_seq": "YEGPLRLLRAKYAYSPSEIK", "down_seq": "ILHLAGLNELEVIPLVQTFG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.71.71", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 72, "end_pos": 72, "site_seq": "I", "up_seq": "EGPLRLLRAKYAYSPSEIKE", "down_seq": "LHLAGLNELEVIPLVQTFGH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.72.72", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 73, "end_pos": 73, "site_seq": "L", "up_seq": "GPLRLLRAKYAYSPSEIKEI", "down_seq": "HLAGLNELEVIPLVQTFGHM", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.73.73", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 76, "end_pos": 76, "site_seq": "A", "up_seq": "RLLRAKYAYSPSEIKEILHL", "down_seq": "GLNELEVIPLVQTFGHMEFV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.76.76", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 77, "end_pos": 77, "site_seq": "G", "up_seq": "LLRAKYAYSPSEIKEILHLA", "down_seq": "LNELEVIPLVQTFGHMEFVL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.77.77", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 79, "end_pos": 79, "site_seq": "N", "up_seq": "RAKYAYSPSEIKEILHLAGL", "down_seq": "ELEVIPLVQTFGHMEFVLKH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.79.79", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 81, "end_pos": 81, "site_seq": "L", "up_seq": "KYAYSPSEIKEILHLAGLNE", "down_seq": "EVIPLVQTFGHMEFVLKHTA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.81.81", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 84, "end_pos": 84, "site_seq": "I", "up_seq": "YSPSEIKEILHLAGLNELEV", "down_seq": "PLVQTFGHMEFVLKHTAFAH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.84.84", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 85, "end_pos": 85, "site_seq": "P", "up_seq": "SPSEIKEILHLAGLNELEVI", "down_seq": "LVQTFGHMEFVLKHTAFAHL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.85.85", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 86, "end_pos": 86, "site_seq": "L", "up_seq": "PSEIKEILHLAGLNELEVIP", "down_seq": "VQTFGHMEFVLKHTAFAHLR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.86.86", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 87, "end_pos": 87, "site_seq": "V", "up_seq": "SEIKEILHLAGLNELEVIPL", "down_seq": "QTFGHMEFVLKHTAFAHLRE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.87.87", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 88, "end_pos": 88, "site_seq": "Q", "up_seq": "EIKEILHLAGLNELEVIPLV", "down_seq": "TFGHMEFVLKHTAFAHLREV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.88.88", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 89, "end_pos": 89, "site_seq": "T", "up_seq": "IKEILHLAGLNELEVIPLVQ", "down_seq": "FGHMEFVLKHTAFAHLREVG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.89.89", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 8, "end_pos": 8, "site_seq": "Q", "up_seq": "MSGSTPF", "down_seq": "MRLVHLDLKGAPPKVSYLSE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.8.8", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 91, "end_pos": 91, "site_seq": "G", "up_seq": "EILHLAGLNELEVIPLVQTF", "down_seq": "HMEFVLKHTAFAHLREVGSF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.91.91", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 93, "end_pos": 93, "site_seq": "M", "up_seq": "LHLAGLNELEVIPLVQTFGH", "down_seq": "EFVLKHTAFAHLREVGSFPC", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.93.93", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 95, "end_pos": 95, "site_seq": "F", "up_seq": "LAGLNELEVIPLVQTFGHME", "down_seq": "VLKHTAFAHLREVGSFPCTL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.95.95", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 96, "end_pos": 96, "site_seq": "V", "up_seq": "AGLNELEVIPLVQTFGHMEF", "down_seq": "LKHTAFAHLREVGSFPCTLN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.96.96", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 99, "end_pos": 99, "site_seq": "H", "up_seq": "NELEVIPLVQTFGHMEFVLK", "down_seq": "TAFAHLREVGSFPCTLNPHE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.99.99", "record_type": "site" }, { "uniprot_canonical_ac": "Q8WVB3-1", "uniprot_id": "HEXD_HUMAN", "protein_name": "Hexosaminidase D", "length": 486, "refseq_ac": "NP_001317471", "refseq_name": "hexosaminidase D isoform 2", "gene_name": "HEXD", "gene_names_uniprotkb": "HEXD; HEXDC", "gene_names_refseq": "HEXDC; HEXD", "start_pos": 9, "end_pos": 9, "site_seq": "M", "up_seq": "MSGSTPFQ", "down_seq": "RLVHLDLKGAPPKVSYLSEI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q8WVB3-1.9.9", "record_type": "site" }, { "uniprot_canonical_ac": "Q9NZC7-1", "uniprot_id": "WWOX_HUMAN", "protein_name": "WW domain-containing oxidoreductase", "length": 414, "refseq_ac": "NP_001278926", "refseq_name": "WW domain-containing oxidoreductase isoform 4", "gene_name": "WWOX", "gene_names_uniprotkb": "WWOX; FOR; SDR41C1; WOX1", "gene_names_refseq": "D16S432E; DEE28; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1; WWOX", "start_pos": 287, "end_pos": 287, "site_seq": "Y", "up_seq": "DINDSLGKLDFSRLSPTKND", "down_seq": "WAMLAYNRSKLCNILFSNEL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "yes", "mutagenesis_count": 1, "snv": "no", "snv_count": 0, "phosphorylation": "yes", "phosphorylation_count": 2, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Tyr", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q9NZC7-1.287.287", "record_type": "site" }, { "uniprot_canonical_ac": "Q9NZC7-1", "uniprot_id": "WWOX_HUMAN", "protein_name": "WW domain-containing oxidoreductase", "length": 414, "refseq_ac": "NP_001278926", "refseq_name": "WW domain-containing oxidoreductase isoform 4", "gene_name": "WWOX", "gene_names_uniprotkb": "WWOX; FOR; SDR41C1; WOX1", "gene_names_refseq": "D16S432E; DEE28; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1; WWOX", "start_pos": 28, "end_pos": 28, "site_seq": "K", "up_seq": "GLDDTDSEDELPPGWEERTT", "down_seq": "DGWVYYANHTEEKTQWEHPK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "yes", "mutagenesis_count": 1, "snv": "no", "snv_count": 0, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q9NZC7-1.28.28", "record_type": "site" }, { "uniprot_canonical_ac": "Q9NZC7-1", "uniprot_id": "WWOX_HUMAN", "protein_name": "WW domain-containing oxidoreductase", "length": 414, "refseq_ac": "NP_001278926", "refseq_name": "WW domain-containing oxidoreductase isoform 4", "gene_name": "WWOX", "gene_names_uniprotkb": "WWOX; FOR; SDR41C1; WOX1", "gene_names_refseq": "D16S432E; DEE28; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1; WWOX", "start_pos": 29, "end_pos": 29, "site_seq": "D", "up_seq": "LDDTDSEDELPPGWEERTTK", "down_seq": "GWVYYANHTEEKTQWEHPKT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "yes", "mutagenesis_count": 1, "snv": "no", "snv_count": 0, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q9NZC7-1.29.29", "record_type": "site" }, { "uniprot_canonical_ac": "Q9NZC7-1", "uniprot_id": "WWOX_HUMAN", "protein_name": "WW domain-containing oxidoreductase", "length": 414, "refseq_ac": "NP_001278926", "refseq_name": "WW domain-containing oxidoreductase isoform 4", "gene_name": "WWOX", "gene_names_uniprotkb": "WWOX; FOR; SDR41C1; WOX1", "gene_names_refseq": "D16S432E; DEE28; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1; WWOX", "start_pos": 33, "end_pos": 33, "site_seq": "Y", "up_seq": "DSEDELPPGWEERTTKDGWV", "down_seq": "YANHTEEKTQWEHPKTGKRK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "yes", "mutagenesis_count": 2, "snv": "no", "snv_count": 0, "phosphorylation": "yes", "phosphorylation_count": 2, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Tyr", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q9NZC7-1.33.33", "record_type": "site" }, { "uniprot_canonical_ac": "Q9NZC7-1", "uniprot_id": "WWOX_HUMAN", "protein_name": "WW domain-containing oxidoreductase", "length": 414, "refseq_ac": "NP_001278926", "refseq_name": "WW domain-containing oxidoreductase isoform 4", "gene_name": "WWOX", "gene_names_uniprotkb": "WWOX; FOR; SDR41C1; WOX1", "gene_names_refseq": "D16S432E; DEE28; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1; WWOX", "start_pos": 44, "end_pos": 47, "site_seq": "WEHP", "up_seq": "ERTTKDGWVYYANHTEEKTQ", "down_seq": "KTGKRKRVAGDLPYGWEQET", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "yes", "mutagenesis_count": 1, "snv": "no", "snv_count": 0, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q9NZC7-1.44.47", "record_type": "site" }, { "uniprot_canonical_ac": "Q9NZC7-1", "uniprot_id": "WWOX_HUMAN", "protein_name": "WW domain-containing oxidoreductase", "length": 414, "refseq_ac": "NP_001278926", "refseq_name": "WW domain-containing oxidoreductase isoform 4", "gene_name": "WWOX", "gene_names_uniprotkb": "WWOX; FOR; SDR41C1; WOX1", "gene_names_refseq": "D16S432E; DEE28; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1; WWOX", "start_pos": 61, "end_pos": 61, "site_seq": "Y", "up_seq": "KTQWEHPKTGKRKRVAGDLP", "down_seq": "GWEQETDENGQVFFVDHINK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "yes", "mutagenesis_count": 1, "snv": "no", "snv_count": 0, "phosphorylation": "yes", "phosphorylation_count": 1, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Tyr", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q9NZC7-1.61.61", "record_type": "site" }, { "uniprot_canonical_ac": "Q9NZC7-1", "uniprot_id": "WWOX_HUMAN", "protein_name": "WW domain-containing oxidoreductase", "length": 414, "refseq_ac": "NP_001278926", "refseq_name": "WW domain-containing oxidoreductase isoform 4", "gene_name": "WWOX", "gene_names_uniprotkb": "WWOX; FOR; SDR41C1; WOX1", "gene_names_refseq": "D16S432E; DEE28; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1; WWOX", "start_pos": 85, "end_pos": 88, "site_seq": "YLDP", "up_seq": "QETDENGQVFFVDHINKRTT", "down_seq": "RLAFTVDDNPTKPTTRQRYD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "yes", "mutagenesis_count": 1, "snv": "no", "snv_count": 0, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q9NZC7-1.85.88", "record_type": "site" }, { "uniprot_canonical_ac": "Q9NZC7-1", "uniprot_id": "WWOX_HUMAN", "protein_name": "WW domain-containing oxidoreductase", "length": 414, "refseq_ac": "NP_001278926", "refseq_name": "WW domain-containing oxidoreductase isoform 4", "gene_name": "WWOX", "gene_names_uniprotkb": "WWOX; FOR; SDR41C1; WOX1", "gene_names_refseq": "D16S432E; DEE28; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1; WWOX", "start_pos": 141, "end_pos": 141, "site_seq": "A", "up_seq": "DFTGKVVVVTGANSGIGFET", "down_seq": "KSFALHGAHVILACRNMARA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q9NZC7-1.141.141", "record_type": "site" }, { "uniprot_canonical_ac": "Q9NZC7-1", "uniprot_id": "WWOX_HUMAN", "protein_name": "WW domain-containing oxidoreductase", "length": 414, "refseq_ac": "NP_001278926", "refseq_name": "WW domain-containing oxidoreductase isoform 4", "gene_name": "WWOX", "gene_names_uniprotkb": "WWOX; FOR; SDR41C1; WOX1", "gene_names_refseq": "D16S432E; DEE28; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1; WWOX", "start_pos": 167, "end_pos": 167, "site_seq": "R", "up_seq": "HGAHVILACRNMARASEAVS", "down_seq": "ILEEWHKAKVEAMTLDLALL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q9NZC7-1.167.167", "record_type": "site" }, { "uniprot_canonical_ac": "Q9NZC7-1", "uniprot_id": "WWOX_HUMAN", "protein_name": "WW domain-containing oxidoreductase", "length": 414, "refseq_ac": "NP_001278926", "refseq_name": "WW domain-containing oxidoreductase isoform 4", "gene_name": "WWOX", "gene_names_uniprotkb": "WWOX; FOR; SDR41C1; WOX1", "gene_names_refseq": "D16S432E; DEE28; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1; WWOX", "start_pos": 179, "end_pos": 179, "site_seq": "A", "up_seq": "ARASEAVSRILEEWHKAKVE", "down_seq": "MTLDLALLRSVQHFAEAFKA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q9NZC7-1.179.179", "record_type": "site" }, { "uniprot_canonical_ac": "Q9NZC7-1", "uniprot_id": "WWOX_HUMAN", "protein_name": "WW domain-containing oxidoreductase", "length": 414, "refseq_ac": "NP_001278926", "refseq_name": "WW domain-containing oxidoreductase isoform 4", "gene_name": "WWOX", "gene_names_uniprotkb": "WWOX; FOR; SDR41C1; WOX1", "gene_names_refseq": "D16S432E; DEE28; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1; WWOX", "start_pos": 212, "end_pos": 212, "site_seq": "A", "up_seq": "HFAEAFKAKNVPLHVLVCNA", "down_seq": "TFALPWSLTKDGLETTFQVN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "n-glyco-sequon-gain", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q9NZC7-1.212.212", "record_type": "site" }, { "uniprot_canonical_ac": "Q9NZC7-1", "uniprot_id": "WWOX_HUMAN", "protein_name": "WW domain-containing oxidoreductase", "length": 414, "refseq_ac": "NP_001278926", "refseq_name": "WW domain-containing oxidoreductase isoform 4", "gene_name": "WWOX", "gene_names_uniprotkb": "WWOX; FOR; SDR41C1; WOX1", "gene_names_refseq": "D16S432E; DEE28; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1; WWOX", "start_pos": 264, "end_pos": 264, "site_seq": "R", "up_seq": "QDVLCRSAPARVIVVSSESH", "down_seq": "FTDINDSLGKLDFSRLSPTK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q9NZC7-1.264.264", "record_type": "site" }, { "uniprot_canonical_ac": "Q9NZC7-1", "uniprot_id": "WWOX_HUMAN", "protein_name": "WW domain-containing oxidoreductase", "length": 414, "refseq_ac": "NP_001278926", "refseq_name": "WW domain-containing oxidoreductase isoform 4", "gene_name": "WWOX", "gene_names_uniprotkb": "WWOX; FOR; SDR41C1; WOX1", "gene_names_refseq": "D16S432E; DEE28; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1; WWOX", "start_pos": 279, "end_pos": 279, "site_seq": "R", "up_seq": "SSESHRFTDINDSLGKLDFS", "down_seq": "LSPTKNDYWAMLAYNRSKLC", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q9NZC7-1.279.279", "record_type": "site" }, { "uniprot_canonical_ac": "Q9NZC7-1", "uniprot_id": "WWOX_HUMAN", "protein_name": "WW domain-containing oxidoreductase", "length": 414, "refseq_ac": "NP_001278926", "refseq_name": "WW domain-containing oxidoreductase isoform 4", "gene_name": "WWOX", "gene_names_uniprotkb": "WWOX; FOR; SDR41C1; WOX1", "gene_names_refseq": "D16S432E; DEE28; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1; WWOX", "start_pos": 317, "end_pos": 317, "site_seq": "T", "up_seq": "KLCNILFSNELHRRLSPRGV", "down_seq": "SNAVHPGNMMYSNIHRSWWV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q9NZC7-1.317.317", "record_type": "site" }, { "uniprot_canonical_ac": "Q9NZC7-1", "uniprot_id": "WWOX_HUMAN", "protein_name": "WW domain-containing oxidoreductase", "length": 414, "refseq_ac": "NP_001278926", "refseq_name": "WW domain-containing oxidoreductase isoform 4", "gene_name": "WWOX", "gene_names_uniprotkb": "WWOX; FOR; SDR41C1; WOX1", "gene_names_refseq": "D16S432E; DEE28; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1; WWOX", "start_pos": 342, "end_pos": 342, "site_seq": "F", "up_seq": "HPGNMMYSNIHRSWWVYTLL", "down_seq": "TLARPFTKSMQQGAATTVYC", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q9NZC7-1.342.342", "record_type": "site" }, { "uniprot_canonical_ac": "Q9NZC7-1", "uniprot_id": "WWOX_HUMAN", "protein_name": "WW domain-containing oxidoreductase", "length": 414, "refseq_ac": "NP_001278926", "refseq_name": "WW domain-containing oxidoreductase isoform 4", "gene_name": "WWOX", "gene_names_uniprotkb": "WWOX; FOR; SDR41C1; WOX1", "gene_names_refseq": "D16S432E; DEE28; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1; WWOX", "start_pos": 345, "end_pos": 345, "site_seq": "A", "up_seq": "NMMYSNIHRSWWVYTLLFTL", "down_seq": "RPFTKSMQQGAATTVYCAAV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q9NZC7-1.345.345", "record_type": "site" }, { "uniprot_canonical_ac": "Q9NZC7-1", "uniprot_id": "WWOX_HUMAN", "protein_name": "WW domain-containing oxidoreductase", "length": 414, "refseq_ac": "NP_001278926", "refseq_name": "WW domain-containing oxidoreductase isoform 4", "gene_name": "WWOX", "gene_names_uniprotkb": "WWOX; FOR; SDR41C1; WOX1", "gene_names_refseq": "D16S432E; DEE28; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1; WWOX", "start_pos": 4, "end_pos": 4, "site_seq": "L", "up_seq": "MAA", "down_seq": "RYAGLDDTDSEDELPPGWEE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q9NZC7-1.4.4", "record_type": "site" }, { "uniprot_canonical_ac": "Q9NZC7-1", "uniprot_id": "WWOX_HUMAN", "protein_name": "WW domain-containing oxidoreductase", "length": 414, "refseq_ac": "NP_001278926", "refseq_name": "WW domain-containing oxidoreductase isoform 4", "gene_name": "WWOX", "gene_names_uniprotkb": "WWOX; FOR; SDR41C1; WOX1", "gene_names_refseq": "D16S432E; DEE28; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1; WWOX", "start_pos": 12, "end_pos": 12, "site_seq": "T", "up_seq": "MAALRYAGLDD", "down_seq": "DSEDELPPGWEERTTKDGWV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "no", "snv_count": 0, "phosphorylation": "yes", "phosphorylation_count": 1, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Thr", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q9NZC7-1.12.12", "record_type": "site" }, { "uniprot_canonical_ac": "Q9NZC7-1", "uniprot_id": "WWOX_HUMAN", "protein_name": "WW domain-containing oxidoreductase", "length": 414, "refseq_ac": "NP_001278926", "refseq_name": "WW domain-containing oxidoreductase isoform 4", "gene_name": "WWOX", "gene_names_uniprotkb": "WWOX; FOR; SDR41C1; WOX1", "gene_names_refseq": "D16S432E; DEE28; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1; WWOX", "start_pos": 14, "end_pos": 14, "site_seq": "S", "up_seq": "MAALRYAGLDDTD", "down_seq": "EDELPPGWEERTTKDGWVYY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "no", "snv_count": 0, "phosphorylation": "yes", "phosphorylation_count": 1, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Ser", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q9NZC7-1.14.14", "record_type": "site" }, { "uniprot_canonical_ac": "Q9NZC7-1", "uniprot_id": "WWOX_HUMAN", "protein_name": "WW domain-containing oxidoreductase", "length": 414, "refseq_ac": "NP_001278926", "refseq_name": "WW domain-containing oxidoreductase isoform 4", "gene_name": "WWOX", "gene_names_uniprotkb": "WWOX; FOR; SDR41C1; WOX1", "gene_names_refseq": "D16S432E; DEE28; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1; WWOX", "start_pos": 49, "end_pos": 49, "site_seq": "T", "up_seq": "DGWVYYANHTEEKTQWEHPK", "down_seq": "GKRKRVAGDLPYGWEQETDE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "no", "snv_count": 0, "phosphorylation": "yes", "phosphorylation_count": 1, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Thr", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q9NZC7-1.49.49", "record_type": "site" }, { "uniprot_canonical_ac": "P17096-1", "uniprot_id": "HMGA1_HUMAN", "protein_name": "High mobility group protein HMG-I/HMG-Y", "length": 107, "refseq_ac": "NP_001306006", "refseq_name": "high mobility group protein HMG-I/HMG-Y isoform b", "gene_name": "HMGA1", "gene_names_uniprotkb": "HMGA1; HMGIY", "gene_names_refseq": "HMG-R; HMGA1A; HMGA1; HMGIY", "start_pos": 0, "end_pos": 0, "site_seq": "", "up_seq": "", "down_seq": "", "glycosylation": "yes", "glycosylation_count": 1, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "no", "snv_count": 0, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "yes", "biomarkers_count": 1, "residue": "", "glycosylation_type": "o-linked|o-glcnacylation", "snv_type": "", "glycoeffect": "", "missing_score": 0, "n_glycosylation_count": 0, "o_glycosylation_count": 1, "glycan_count": 1, "reported_glycosite_flag": true, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.2, "record_id": "P17096-1.0.0", "record_type": "site" }, { "uniprot_canonical_ac": "P17096-1", "uniprot_id": "HMGA1_HUMAN", "protein_name": "High mobility group protein HMG-I/HMG-Y", "length": 107, "refseq_ac": "NP_001306006", "refseq_name": "high mobility group protein HMG-I/HMG-Y isoform b", "gene_name": "HMGA1", "gene_names_uniprotkb": "HMGA1; HMGIY", "gene_names_refseq": "HMG-R; HMGA1A; HMGA1; HMGIY", "start_pos": 26, "end_pos": 26, "site_seq": "R", "up_seq": "SKSSQPLASKQEKDGTEKRG", "down_seq": "GRPRKQPPVSPGTALVGSQK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "yes", "mutagenesis_count": 1, "snv": "no", "snv_count": 0, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "P17096-1.26.26", "record_type": "site" }, { "uniprot_canonical_ac": "P17096-1", "uniprot_id": "HMGA1_HUMAN", "protein_name": "High mobility group protein HMG-I/HMG-Y", "length": 107, "refseq_ac": "NP_001306006", "refseq_name": "high mobility group protein HMG-I/HMG-Y isoform b", "gene_name": "HMGA1", "gene_names_uniprotkb": "HMGA1; HMGIY", "gene_names_refseq": "HMG-R; HMGA1A; HMGA1; HMGIY", "start_pos": 58, "end_pos": 58, "site_seq": "R", "up_seq": "GTALVGSQKEPSEVPTPKRP", "down_seq": "GRPKGSKNKGAAKTRKTTTT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "yes", "mutagenesis_count": 1, "snv": "no", "snv_count": 0, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "P17096-1.58.58", "record_type": "site" }, { "uniprot_canonical_ac": "P17096-1", "uniprot_id": "HMGA1_HUMAN", "protein_name": "High mobility group protein HMG-I/HMG-Y", "length": 107, "refseq_ac": "NP_001306006", "refseq_name": "high mobility group protein HMG-I/HMG-Y isoform b", "gene_name": "HMGA1", "gene_names_uniprotkb": "HMGA1; HMGIY", "gene_names_refseq": "HMG-R; HMGA1A; HMGA1; HMGIY", "start_pos": 60, "end_pos": 60, "site_seq": "R", "up_seq": "ALVGSQKEPSEVPTPKRPRG", "down_seq": "PKGSKNKGAAKTRKTTTTPG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "yes", "mutagenesis_count": 1, "snv": "no", "snv_count": 0, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "P17096-1.60.60", "record_type": "site" }, { "uniprot_canonical_ac": "P17096-1", "uniprot_id": "HMGA1_HUMAN", "protein_name": "High mobility group protein HMG-I/HMG-Y", "length": 107, "refseq_ac": "NP_001306006", "refseq_name": "high mobility group protein HMG-I/HMG-Y isoform b", "gene_name": "HMGA1", "gene_names_uniprotkb": "HMGA1; HMGIY", "gene_names_refseq": "HMG-R; HMGA1A; HMGA1; HMGIY", "start_pos": 102, "end_pos": 102, "site_seq": "S", "up_seq": "KPRGRPKKLEKEEEEGISQE", "down_seq": "SEEEQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "no", "snv_count": 0, "phosphorylation": "yes", "phosphorylation_count": 3, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Ser", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "P17096-1.102.102", "record_type": "site" }, { "uniprot_canonical_ac": "P17096-1", "uniprot_id": "HMGA1_HUMAN", "protein_name": "High mobility group protein HMG-I/HMG-Y", "length": 107, "refseq_ac": "NP_001306006", "refseq_name": "high mobility group protein HMG-I/HMG-Y isoform b", "gene_name": "HMGA1", "gene_names_uniprotkb": "HMGA1; HMGIY", "gene_names_refseq": "HMG-R; HMGA1A; HMGA1; HMGIY", "start_pos": 103, "end_pos": 103, "site_seq": "S", "up_seq": "PRGRPKKLEKEEEEGISQES", "down_seq": "EEEQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "no", "snv_count": 0, "phosphorylation": "yes", "phosphorylation_count": 3, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Ser", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "P17096-1.103.103", "record_type": "site" }, { "uniprot_canonical_ac": "P17096-1", "uniprot_id": "HMGA1_HUMAN", "protein_name": "High mobility group protein HMG-I/HMG-Y", "length": 107, "refseq_ac": "NP_001306006", "refseq_name": "high mobility group protein HMG-I/HMG-Y isoform b", "gene_name": "HMGA1", "gene_names_uniprotkb": "HMGA1; HMGIY", "gene_names_refseq": "HMG-R; HMGA1A; HMGA1; HMGIY", "start_pos": 36, "end_pos": 36, "site_seq": "S", "up_seq": "QEKDGTEKRGRGRPRKQPPV", "down_seq": "PGTALVGSQKEPSEVPTPKR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "no", "snv_count": 0, "phosphorylation": "yes", "phosphorylation_count": 4, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Ser", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "P17096-1.36.36", "record_type": "site" }, { "uniprot_canonical_ac": "P17096-1", "uniprot_id": "HMGA1_HUMAN", "protein_name": "High mobility group protein HMG-I/HMG-Y", "length": 107, "refseq_ac": "NP_001306006", "refseq_name": "high mobility group protein HMG-I/HMG-Y isoform b", "gene_name": "HMGA1", "gene_names_uniprotkb": "HMGA1; HMGIY", "gene_names_refseq": "HMG-R; HMGA1A; HMGA1; HMGIY", "start_pos": 39, "end_pos": 39, "site_seq": "T", "up_seq": "DGTEKRGRGRPRKQPPVSPG", "down_seq": "ALVGSQKEPSEVPTPKRPRG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "no", "snv_count": 0, "phosphorylation": "yes", "phosphorylation_count": 1, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Thr", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "P17096-1.39.39", "record_type": "site" }, { "uniprot_canonical_ac": "P17096-1", "uniprot_id": "HMGA1_HUMAN", "protein_name": "High mobility group protein HMG-I/HMG-Y", "length": 107, "refseq_ac": "NP_001306006", "refseq_name": "high mobility group protein HMG-I/HMG-Y isoform b", "gene_name": "HMGA1", "gene_names_uniprotkb": "HMGA1; HMGIY", "gene_names_refseq": "HMG-R; HMGA1A; HMGA1; HMGIY", "start_pos": 44, "end_pos": 44, "site_seq": "S", "up_seq": "RGRGRPRKQPPVSPGTALVG", "down_seq": "QKEPSEVPTPKRPRGRPKGS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "no", "snv_count": 0, "phosphorylation": "yes", "phosphorylation_count": 2, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Ser", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "P17096-1.44.44", "record_type": "site" }, { "uniprot_canonical_ac": "P17096-1", "uniprot_id": "HMGA1_HUMAN", "protein_name": "High mobility group protein HMG-I/HMG-Y", "length": 107, "refseq_ac": "NP_001306006", "refseq_name": "high mobility group protein HMG-I/HMG-Y isoform b", "gene_name": "HMGA1", "gene_names_uniprotkb": "HMGA1; HMGIY", "gene_names_refseq": "HMG-R; HMGA1A; HMGA1; HMGIY", "start_pos": 49, "end_pos": 49, "site_seq": "S", "up_seq": "PRKQPPVSPGTALVGSQKEP", "down_seq": "EVPTPKRPRGRPKGSKNKGA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "no", "snv_count": 0, "phosphorylation": "yes", "phosphorylation_count": 1, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Ser", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "P17096-1.49.49", "record_type": "site" }, { "uniprot_canonical_ac": "P17096-1", "uniprot_id": "HMGA1_HUMAN", "protein_name": "High mobility group protein HMG-I/HMG-Y", "length": 107, "refseq_ac": "NP_001306006", "refseq_name": "high mobility group protein HMG-I/HMG-Y isoform b", "gene_name": "HMGA1", "gene_names_uniprotkb": "HMGA1; HMGIY", "gene_names_refseq": "HMG-R; HMGA1A; HMGA1; HMGIY", "start_pos": 53, "end_pos": 53, "site_seq": "T", "up_seq": "PPVSPGTALVGSQKEPSEVP", "down_seq": "PKRPRGRPKGSKNKGAAKTR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "no", "snv_count": 0, "phosphorylation": "yes", "phosphorylation_count": 3, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Thr", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "P17096-1.53.53", "record_type": "site" }, { "uniprot_canonical_ac": "P17096-1", "uniprot_id": "HMGA1_HUMAN", "protein_name": "High mobility group protein HMG-I/HMG-Y", "length": 107, "refseq_ac": "NP_001306006", "refseq_name": "high mobility group protein HMG-I/HMG-Y isoform b", "gene_name": "HMGA1", "gene_names_uniprotkb": "HMGA1; HMGIY", "gene_names_refseq": "HMG-R; HMGA1A; HMGA1; HMGIY", "start_pos": 64, "end_pos": 64, "site_seq": "S", "up_seq": "SQKEPSEVPTPKRPRGRPKG", "down_seq": "KNKGAAKTRKTTTTPGRKPR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "no", "snv_count": 0, "phosphorylation": "yes", "phosphorylation_count": 2, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Ser", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "P17096-1.64.64", "record_type": "site" }, { "uniprot_canonical_ac": "P17096-1", "uniprot_id": "HMGA1_HUMAN", "protein_name": "High mobility group protein HMG-I/HMG-Y", "length": 107, "refseq_ac": "NP_001306006", "refseq_name": "high mobility group protein HMG-I/HMG-Y isoform b", "gene_name": "HMGA1", "gene_names_uniprotkb": "HMGA1; HMGIY", "gene_names_refseq": "HMG-R; HMGA1A; HMGA1; HMGIY", "start_pos": 78, "end_pos": 78, "site_seq": "T", "up_seq": "RGRPKGSKNKGAAKTRKTTT", "down_seq": "PGRKPRGRPKKLEKEEEEGI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "no", "snv_count": 0, "phosphorylation": "yes", "phosphorylation_count": 3, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Thr", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "P17096-1.78.78", "record_type": "site" }, { "uniprot_canonical_ac": "P17096-1", "uniprot_id": "HMGA1_HUMAN", "protein_name": "High mobility group protein HMG-I/HMG-Y", "length": 107, "refseq_ac": "NP_001306006", "refseq_name": "high mobility group protein HMG-I/HMG-Y isoform b", "gene_name": "HMGA1", "gene_names_uniprotkb": "HMGA1; HMGIY", "gene_names_refseq": "HMG-R; HMGA1A; HMGA1; HMGIY", "start_pos": 99, "end_pos": 99, "site_seq": "S", "up_seq": "PGRKPRGRPKKLEKEEEEGI", "down_seq": "QESSEEEQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "no", "snv_count": 0, "phosphorylation": "yes", "phosphorylation_count": 3, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Ser", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "P17096-1.99.99", "record_type": "site" }, { "uniprot_canonical_ac": "P17096-1", "uniprot_id": "HMGA1_HUMAN", "protein_name": "High mobility group protein HMG-I/HMG-Y", "length": 107, "refseq_ac": "NP_001306006", "refseq_name": "high mobility group protein HMG-I/HMG-Y isoform b", "gene_name": "HMGA1", "gene_names_uniprotkb": "HMGA1; HMGIY", "gene_names_refseq": "HMG-R; HMGA1A; HMGA1; HMGIY", "start_pos": 9, "end_pos": 9, "site_seq": "S", "up_seq": "MSESSSKS", "down_seq": "QPLASKQEKDGTEKRGRGRP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "no", "snv_count": 0, "phosphorylation": "yes", "phosphorylation_count": 1, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Ser", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "P17096-1.9.9", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 288, "end_pos": 288, "site_seq": "N", "up_seq": "DLEALQVKHGESVLVLDKCT", "down_seq": "LSEGVLSVRKRCHKHQVFDY", "glycosylation": "yes", "glycosylation_count": 2, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Asn", "glycosylation_type": "n-linked|other", "snv_type": "germline", "glycoeffect": "n-glyco-sequon-loss", "missing_score": 10000, "n_glycosylation_count": 2, "o_glycosylation_count": 0, "glycan_count": 1, "reported_glycosite_flag": true, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.3, "record_id": "Q93063-1.288.288", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 637, "end_pos": 637, "site_seq": "N", "up_seq": "KNWVDAHMNCEDIAMNFLVA", "down_seq": "VTGKAVIKVTPRKKFKCPEC", "glycosylation": "yes", "glycosylation_count": 2, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Asn", "glycosylation_type": "n-linked|other", "snv_type": "somatic;germline", "glycoeffect": "n-glyco-sequon-loss", "missing_score": 9562, "n_glycosylation_count": 2, "o_glycosylation_count": 0, "glycan_count": 1, "reported_glycosite_flag": true, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.3, "record_id": "Q93063-1.637.637", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 266, "end_pos": 266, "site_seq": "R", "up_seq": "GPGPRQYFLLSSQVGLHPEY", "down_seq": "EDLEALQVKHGESVLVLDKC", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "yes", "mutagenesis_count": 1, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.266.266", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 308, "end_pos": 308, "site_seq": "Y", "up_seq": "NLSEGVLSVRKRCHKHQVFD", "down_seq": "PQVLQEATFCVVLRGARLGQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "yes", "mutagenesis_count": 1, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.308.308", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 325, "end_pos": 325, "site_seq": "R", "up_seq": "VFDYPQVLQEATFCVVLRGA", "down_seq": "LGQAVLSDVLQAGCVPVVIA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "yes", "mutagenesis_count": 1, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.325.325", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 328, "end_pos": 328, "site_seq": "Q", "up_seq": "YPQVLQEATFCVVLRGARLG", "down_seq": "AVLSDVLQAGCVPVVIADSY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "yes", "mutagenesis_count": 1, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.328.328", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 538, "end_pos": 538, "site_seq": "D", "up_seq": "KLSNRFFPYDEIETEAVLAI", "down_seq": "DDIIMLTSDELQFGYEVWRE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "yes", "mutagenesis_count": 2, "snv": "no", "snv_count": 0, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.538.538", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 540, "end_pos": 540, "site_seq": "D", "up_seq": "SNRFFPYDEIETEAVLAIDD", "down_seq": "IIMLTSDELQFGYEVWREFP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "yes", "mutagenesis_count": 2, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.540.540", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 569, "end_pos": 569, "site_seq": "R", "up_seq": "LQFGYEVWREFPDRLVGYPG", "down_seq": "LHLWDHEMNKWKYESEWTNE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "yes", "mutagenesis_count": 1, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.569.569", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 585, "end_pos": 585, "site_seq": "E", "up_seq": "GYPGRLHLWDHEMNKWKYES", "down_seq": "WTNEVSMVLTGAAFYHKYFN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "yes", "mutagenesis_count": 1, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.585.585", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 123, "end_pos": 123, "site_seq": "S", "up_seq": "KIKVYIYALKKYVDDFGVSV", "down_seq": "NTISREYNELLMAISDSDYY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "n-glyco-sequon-gain;o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.123.123", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 125, "end_pos": 125, "site_seq": "T", "up_seq": "KVYIYALKKYVDDFGVSVSN", "down_seq": "ISREYNELLMAISDSDYYTD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "n-glyco-sequon-gain;o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.125.125", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 126, "end_pos": 126, "site_seq": "I", "up_seq": "VYIYALKKYVDDFGVSVSNT", "down_seq": "SREYNELLMAISDSDYYTDD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "n-glyco-sequon-gain", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.126.126", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 150, "end_pos": 150, "site_seq": "A", "up_seq": "YNELLMAISDSDYYTDDINR", "down_seq": "CLFVPSIDVLNQNTLRIKET", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "n-glyco-sequon-gain", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.150.150", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 166, "end_pos": 166, "site_seq": "R", "up_seq": "DINRACLFVPSIDVLNQNTL", "down_seq": "IKETAQAMAQLSRWDRGTNH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.166.166", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 199, "end_pos": 199, "site_seq": "Y", "up_seq": "RWDRGTNHLLFNMLPGGPPD", "down_seq": "NTALDVPRDRALLAGGGFST", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "n-glyco-sequon-gain;o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.199.199", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 202, "end_pos": 202, "site_seq": "A", "up_seq": "RGTNHLLFNMLPGGPPDYNT", "down_seq": "LDVPRDRALLAGGGFSTWTY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "n-glyco-sequon-gain", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.202.202", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 227, "end_pos": 227, "site_seq": "D", "up_seq": "RDRALLAGGGFSTWTYRQGY", "down_seq": "VSIPVYSPLSAEVDLPEKGP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 6, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "n-glyco-sequon-gain", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.227.227", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 284, "end_pos": 284, "site_seq": "D", "up_seq": "EYREDLEALQVKHGESVLVL", "down_seq": "KCTNLSEGVLSVRKRCHKHQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "n-glyco-sequon-gain", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.284.284", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 290, "end_pos": 290, "site_seq": "S", "up_seq": "EALQVKHGESVLVLDKCTNL", "down_seq": "EGVLSVRKRCHKHQVFDYPQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "n-glyco-sequon-loss;o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.290.290", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 369, "end_pos": 369, "site_seq": "K", "up_seq": "ILPFSEVLDWKRASVVVPEE", "down_seq": "MSDVYSILQSIPQRQIEEMQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "n-glyco-sequon-gain", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.369.369", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 432, "end_pos": 432, "site_seq": "P", "up_seq": "QIINDRIYPYAAISYEEWND", "down_seq": "PAVKWGSVSNPLFLPLIPPQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "n-glyco-sequon-gain", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.432.432", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 481, "end_pos": 481, "site_seq": "S", "up_seq": "LTYDRVESLFRVITEVSKVP", "down_seq": "LSKLLVVWNNQNKNPPEDSL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "n-glyco-sequon-gain;o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.481.481", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 493, "end_pos": 493, "site_seq": "N", "up_seq": "ITEVSKVPSLSKLLVVWNNQ", "down_seq": "KNPPEDSLWPKIRVPLKVVR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "n-glyco-sequon-gain", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.493.493", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 495, "end_pos": 495, "site_seq": "N", "up_seq": "EVSKVPSLSKLLVVWNNQNK", "down_seq": "PPEDSLWPKIRVPLKVVRTA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "n-glyco-sequon-gain", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.495.495", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 56, "end_pos": 56, "site_seq": "W", "up_seq": "GLIATGMFQFWPHSIESSND", "down_seq": "NVEKRSIRDVPVVRLPADSP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "n-glyco-sequon-gain", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.56.56", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 580, "end_pos": 580, "site_seq": "W", "up_seq": "PDRLVGYPGRLHLWDHEMNK", "down_seq": "KYESEWTNEVSMVLTGAAFY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "n-glyco-sequon-gain", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.580.580", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 639, "end_pos": 639, "site_seq": "T", "up_seq": "WVDAHMNCEDIAMNFLVANV", "down_seq": "GKAVIKVTPRKKFKCPECTA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "n-glyco-sequon-loss;o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.639.639", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 100, "end_pos": 100, "site_seq": "P", "up_seq": "RGDLSCRMHTCFDVYRCGFN", "down_seq": "KNKIKVYIYALKKYVDDFGV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.100.100", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 101, "end_pos": 101, "site_seq": "K", "up_seq": "GDLSCRMHTCFDVYRCGFNP", "down_seq": "NKIKVYIYALKKYVDDFGVS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.101.101", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 103, "end_pos": 103, "site_seq": "K", "up_seq": "LSCRMHTCFDVYRCGFNPKN", "down_seq": "IKVYIYALKKYVDDFGVSVS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.103.103", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 104, "end_pos": 104, "site_seq": "I", "up_seq": "SCRMHTCFDVYRCGFNPKNK", "down_seq": "KVYIYALKKYVDDFGVSVSN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.104.104", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 105, "end_pos": 105, "site_seq": "K", "up_seq": "CRMHTCFDVYRCGFNPKNKI", "down_seq": "VYIYALKKYVDDFGVSVSNT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.105.105", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 106, "end_pos": 106, "site_seq": "V", "up_seq": "RMHTCFDVYRCGFNPKNKIK", "down_seq": "YIYALKKYVDDFGVSVSNTI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.106.106", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 107, "end_pos": 107, "site_seq": "Y", "up_seq": "MHTCFDVYRCGFNPKNKIKV", "down_seq": "IYALKKYVDDFGVSVSNTIS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.107.107", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 108, "end_pos": 108, "site_seq": "I", "up_seq": "HTCFDVYRCGFNPKNKIKVY", "down_seq": "YALKKYVDDFGVSVSNTISR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.108.108", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 109, "end_pos": 109, "site_seq": "Y", "up_seq": "TCFDVYRCGFNPKNKIKVYI", "down_seq": "ALKKYVDDFGVSVSNTISRE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.109.109", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 10, "end_pos": 10, "site_seq": "R", "up_seq": "MCASVKYNI", "down_seq": "GPALIPRMKTKHRIYYITLF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.10.10", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 110, "end_pos": 110, "site_seq": "A", "up_seq": "CFDVYRCGFNPKNKIKVYIY", "down_seq": "LKKYVDDFGVSVSNTISREY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.110.110", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 111, "end_pos": 111, "site_seq": "L", "up_seq": "FDVYRCGFNPKNKIKVYIYA", "down_seq": "KKYVDDFGVSVSNTISREYN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.111.111", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 112, "end_pos": 112, "site_seq": "K", "up_seq": "DVYRCGFNPKNKIKVYIYAL", "down_seq": "KYVDDFGVSVSNTISREYNE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.112.112", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 113, "end_pos": 113, "site_seq": "K", "up_seq": "VYRCGFNPKNKIKVYIYALK", "down_seq": "YVDDFGVSVSNTISREYNEL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.113.113", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 114, "end_pos": 114, "site_seq": "Y", "up_seq": "YRCGFNPKNKIKVYIYALKK", "down_seq": "VDDFGVSVSNTISREYNELL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.114.114", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 115, "end_pos": 115, "site_seq": "V", "up_seq": "RCGFNPKNKIKVYIYALKKY", "down_seq": "DDFGVSVSNTISREYNELLM", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.115.115", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 116, "end_pos": 116, "site_seq": "D", "up_seq": "CGFNPKNKIKVYIYALKKYV", "down_seq": "DFGVSVSNTISREYNELLMA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.116.116", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 117, "end_pos": 117, "site_seq": "D", "up_seq": "GFNPKNKIKVYIYALKKYVD", "down_seq": "FGVSVSNTISREYNELLMAI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.117.117", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 119, "end_pos": 119, "site_seq": "G", "up_seq": "NPKNKIKVYIYALKKYVDDF", "down_seq": "VSVSNTISREYNELLMAISD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.119.119", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 11, "end_pos": 11, "site_seq": "G", "up_seq": "MCASVKYNIR", "down_seq": "PALIPRMKTKHRIYYITLFS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.11.11", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 120, "end_pos": 120, "site_seq": "V", "up_seq": "PKNKIKVYIYALKKYVDDFG", "down_seq": "SVSNTISREYNELLMAISDS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.120.120", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 121, "end_pos": 121, "site_seq": "S", "up_seq": "KNKIKVYIYALKKYVDDFGV", "down_seq": "VSNTISREYNELLMAISDSD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.121.121", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 122, "end_pos": 122, "site_seq": "V", "up_seq": "NKIKVYIYALKKYVDDFGVS", "down_seq": "SNTISREYNELLMAISDSDY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.122.122", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 124, "end_pos": 124, "site_seq": "N", "up_seq": "IKVYIYALKKYVDDFGVSVS", "down_seq": "TISREYNELLMAISDSDYYT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.124.124", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 127, "end_pos": 127, "site_seq": "S", "up_seq": "YIYALKKYVDDFGVSVSNTI", "down_seq": "REYNELLMAISDSDYYTDDI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.127.127", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 128, "end_pos": 128, "site_seq": "R", "up_seq": "IYALKKYVDDFGVSVSNTIS", "down_seq": "EYNELLMAISDSDYYTDDIN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 6, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.128.128", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 129, "end_pos": 129, "site_seq": "E", "up_seq": "YALKKYVDDFGVSVSNTISR", "down_seq": "YNELLMAISDSDYYTDDINR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.129.129", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 12, "end_pos": 12, "site_seq": "P", "up_seq": "MCASVKYNIRG", "down_seq": "ALIPRMKTKHRIYYITLFSI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.12.12", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 130, "end_pos": 130, "site_seq": "Y", "up_seq": "ALKKYVDDFGVSVSNTISRE", "down_seq": "NELLMAISDSDYYTDDINRA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.130.130", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 131, "end_pos": 131, "site_seq": "N", "up_seq": "LKKYVDDFGVSVSNTISREY", "down_seq": "ELLMAISDSDYYTDDINRAC", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.131.131", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 132, "end_pos": 132, "site_seq": "E", "up_seq": "KKYVDDFGVSVSNTISREYN", "down_seq": "LLMAISDSDYYTDDINRACL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.132.132", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 133, "end_pos": 133, "site_seq": "L", "up_seq": "KYVDDFGVSVSNTISREYNE", "down_seq": "LMAISDSDYYTDDINRACLF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.133.133", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 134, "end_pos": 134, "site_seq": "L", "up_seq": "YVDDFGVSVSNTISREYNEL", "down_seq": "MAISDSDYYTDDINRACLFV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.134.134", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 135, "end_pos": 135, "site_seq": "M", "up_seq": "VDDFGVSVSNTISREYNELL", "down_seq": "AISDSDYYTDDINRACLFVP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.135.135", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 136, "end_pos": 136, "site_seq": "A", "up_seq": "DDFGVSVSNTISREYNELLM", "down_seq": "ISDSDYYTDDINRACLFVPS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.136.136", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 137, "end_pos": 137, "site_seq": "I", "up_seq": "DFGVSVSNTISREYNELLMA", "down_seq": "SDSDYYTDDINRACLFVPSI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.137.137", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 138, "end_pos": 138, "site_seq": "S", "up_seq": "FGVSVSNTISREYNELLMAI", "down_seq": "DSDYYTDDINRACLFVPSID", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.138.138", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 139, "end_pos": 139, "site_seq": "D", "up_seq": "GVSVSNTISREYNELLMAIS", "down_seq": "SDYYTDDINRACLFVPSIDV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.139.139", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 13, "end_pos": 13, "site_seq": "A", "up_seq": "MCASVKYNIRGP", "down_seq": "LIPRMKTKHRIYYITLFSIV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.13.13", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 140, "end_pos": 140, "site_seq": "S", "up_seq": "VSVSNTISREYNELLMAISD", "down_seq": "DYYTDDINRACLFVPSIDVL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.140.140", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 141, "end_pos": 141, "site_seq": "D", "up_seq": "SVSNTISREYNELLMAISDS", "down_seq": "YYTDDINRACLFVPSIDVLN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.141.141", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 142, "end_pos": 142, "site_seq": "Y", "up_seq": "VSNTISREYNELLMAISDSD", "down_seq": "YTDDINRACLFVPSIDVLNQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.142.142", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 143, "end_pos": 143, "site_seq": "Y", "up_seq": "SNTISREYNELLMAISDSDY", "down_seq": "TDDINRACLFVPSIDVLNQN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.143.143", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 144, "end_pos": 144, "site_seq": "T", "up_seq": "NTISREYNELLMAISDSDYY", "down_seq": "DDINRACLFVPSIDVLNQNT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.144.144", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 145, "end_pos": 145, "site_seq": "D", "up_seq": "TISREYNELLMAISDSDYYT", "down_seq": "DINRACLFVPSIDVLNQNTL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.145.145", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 147, "end_pos": 147, "site_seq": "I", "up_seq": "SREYNELLMAISDSDYYTDD", "down_seq": "NRACLFVPSIDVLNQNTLRI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.147.147", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 148, "end_pos": 148, "site_seq": "N", "up_seq": "REYNELLMAISDSDYYTDDI", "down_seq": "RACLFVPSIDVLNQNTLRIK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.148.148", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 149, "end_pos": 149, "site_seq": "R", "up_seq": "EYNELLMAISDSDYYTDDIN", "down_seq": "ACLFVPSIDVLNQNTLRIKE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.149.149", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 151, "end_pos": 151, "site_seq": "C", "up_seq": "NELLMAISDSDYYTDDINRA", "down_seq": "LFVPSIDVLNQNTLRIKETA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.151.151", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 152, "end_pos": 152, "site_seq": "L", "up_seq": "ELLMAISDSDYYTDDINRAC", "down_seq": "FVPSIDVLNQNTLRIKETAQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.152.152", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 153, "end_pos": 153, "site_seq": "F", "up_seq": "LLMAISDSDYYTDDINRACL", "down_seq": "VPSIDVLNQNTLRIKETAQA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.153.153", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 154, "end_pos": 154, "site_seq": "V", "up_seq": "LMAISDSDYYTDDINRACLF", "down_seq": "PSIDVLNQNTLRIKETAQAM", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.154.154", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 155, "end_pos": 155, "site_seq": "P", "up_seq": "MAISDSDYYTDDINRACLFV", "down_seq": "SIDVLNQNTLRIKETAQAMA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.155.155", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 156, "end_pos": 156, "site_seq": "S", "up_seq": "AISDSDYYTDDINRACLFVP", "down_seq": "IDVLNQNTLRIKETAQAMAQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.156.156", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 157, "end_pos": 157, "site_seq": "I", "up_seq": "ISDSDYYTDDINRACLFVPS", "down_seq": "DVLNQNTLRIKETAQAMAQL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.157.157", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 158, "end_pos": 158, "site_seq": "D", "up_seq": "SDSDYYTDDINRACLFVPSI", "down_seq": "VLNQNTLRIKETAQAMAQLS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.158.158", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 159, "end_pos": 159, "site_seq": "V", "up_seq": "DSDYYTDDINRACLFVPSID", "down_seq": "LNQNTLRIKETAQAMAQLSR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.159.159", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 15, "end_pos": 15, "site_seq": "I", "up_seq": "MCASVKYNIRGPAL", "down_seq": "PRMKTKHRIYYITLFSIVLL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.15.15", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 160, "end_pos": 160, "site_seq": "L", "up_seq": "SDYYTDDINRACLFVPSIDV", "down_seq": "NQNTLRIKETAQAMAQLSRW", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.160.160", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 161, "end_pos": 161, "site_seq": "N", "up_seq": "DYYTDDINRACLFVPSIDVL", "down_seq": "QNTLRIKETAQAMAQLSRWD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.161.161", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 162, "end_pos": 162, "site_seq": "Q", "up_seq": "YYTDDINRACLFVPSIDVLN", "down_seq": "NTLRIKETAQAMAQLSRWDR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.162.162", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 163, "end_pos": 163, "site_seq": "N", "up_seq": "YTDDINRACLFVPSIDVLNQ", "down_seq": "TLRIKETAQAMAQLSRWDRG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.163.163", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 164, "end_pos": 164, "site_seq": "T", "up_seq": "TDDINRACLFVPSIDVLNQN", "down_seq": "LRIKETAQAMAQLSRWDRGT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.164.164", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 165, "end_pos": 165, "site_seq": "L", "up_seq": "DDINRACLFVPSIDVLNQNT", "down_seq": "RIKETAQAMAQLSRWDRGTN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.165.165", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 168, "end_pos": 168, "site_seq": "K", "up_seq": "NRACLFVPSIDVLNQNTLRI", "down_seq": "ETAQAMAQLSRWDRGTNHLL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.168.168", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 169, "end_pos": 169, "site_seq": "E", "up_seq": "RACLFVPSIDVLNQNTLRIK", "down_seq": "TAQAMAQLSRWDRGTNHLLF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.169.169", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 16, "end_pos": 16, "site_seq": "P", "up_seq": "MCASVKYNIRGPALI", "down_seq": "RMKTKHRIYYITLFSIVLLG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.16.16", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 170, "end_pos": 170, "site_seq": "T", "up_seq": "ACLFVPSIDVLNQNTLRIKE", "down_seq": "AQAMAQLSRWDRGTNHLLFN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.170.170", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 171, "end_pos": 171, "site_seq": "A", "up_seq": "CLFVPSIDVLNQNTLRIKET", "down_seq": "QAMAQLSRWDRGTNHLLFNM", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.171.171", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 172, "end_pos": 172, "site_seq": "Q", "up_seq": "LFVPSIDVLNQNTLRIKETA", "down_seq": "AMAQLSRWDRGTNHLLFNML", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.172.172", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 173, "end_pos": 173, "site_seq": "A", "up_seq": "FVPSIDVLNQNTLRIKETAQ", "down_seq": "MAQLSRWDRGTNHLLFNMLP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.173.173", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 174, "end_pos": 174, "site_seq": "M", "up_seq": "VPSIDVLNQNTLRIKETAQA", "down_seq": "AQLSRWDRGTNHLLFNMLPG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.174.174", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 175, "end_pos": 175, "site_seq": "A", "up_seq": "PSIDVLNQNTLRIKETAQAM", "down_seq": "QLSRWDRGTNHLLFNMLPGG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.175.175", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 176, "end_pos": 176, "site_seq": "Q", "up_seq": "SIDVLNQNTLRIKETAQAMA", "down_seq": "LSRWDRGTNHLLFNMLPGGP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.176.176", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 177, "end_pos": 177, "site_seq": "L", "up_seq": "IDVLNQNTLRIKETAQAMAQ", "down_seq": "SRWDRGTNHLLFNMLPGGPP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.177.177", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 178, "end_pos": 178, "site_seq": "S", "up_seq": "DVLNQNTLRIKETAQAMAQL", "down_seq": "RWDRGTNHLLFNMLPGGPPD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.178.178", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 179, "end_pos": 179, "site_seq": "R", "up_seq": "VLNQNTLRIKETAQAMAQLS", "down_seq": "WDRGTNHLLFNMLPGGPPDY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.179.179", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 17, "end_pos": 17, "site_seq": "R", "up_seq": "MCASVKYNIRGPALIP", "down_seq": "MKTKHRIYYITLFSIVLLGL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.17.17", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 180, "end_pos": 180, "site_seq": "W", "up_seq": "LNQNTLRIKETAQAMAQLSR", "down_seq": "DRGTNHLLFNMLPGGPPDYN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.180.180", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 181, "end_pos": 181, "site_seq": "D", "up_seq": "NQNTLRIKETAQAMAQLSRW", "down_seq": "RGTNHLLFNMLPGGPPDYNT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.181.181", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 182, "end_pos": 182, "site_seq": "R", "up_seq": "QNTLRIKETAQAMAQLSRWD", "down_seq": "GTNHLLFNMLPGGPPDYNTA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.182.182", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 183, "end_pos": 183, "site_seq": "G", "up_seq": "NTLRIKETAQAMAQLSRWDR", "down_seq": "TNHLLFNMLPGGPPDYNTAL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.183.183", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 184, "end_pos": 184, "site_seq": "T", "up_seq": "TLRIKETAQAMAQLSRWDRG", "down_seq": "NHLLFNMLPGGPPDYNTALD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.184.184", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 185, "end_pos": 185, "site_seq": "N", "up_seq": "LRIKETAQAMAQLSRWDRGT", "down_seq": "HLLFNMLPGGPPDYNTALDV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.185.185", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 186, "end_pos": 186, "site_seq": "H", "up_seq": "RIKETAQAMAQLSRWDRGTN", "down_seq": "LLFNMLPGGPPDYNTALDVP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.186.186", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 188, "end_pos": 188, "site_seq": "L", "up_seq": "KETAQAMAQLSRWDRGTNHL", "down_seq": "FNMLPGGPPDYNTALDVPRD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.188.188", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 189, "end_pos": 189, "site_seq": "F", "up_seq": "ETAQAMAQLSRWDRGTNHLL", "down_seq": "NMLPGGPPDYNTALDVPRDR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.189.189", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 18, "end_pos": 18, "site_seq": "M", "up_seq": "MCASVKYNIRGPALIPR", "down_seq": "KTKHRIYYITLFSIVLLGLI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.18.18", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 191, "end_pos": 191, "site_seq": "M", "up_seq": "AQAMAQLSRWDRGTNHLLFN", "down_seq": "LPGGPPDYNTALDVPRDRAL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.191.191", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 193, "end_pos": 193, "site_seq": "P", "up_seq": "AMAQLSRWDRGTNHLLFNML", "down_seq": "GGPPDYNTALDVPRDRALLA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.193.193", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 194, "end_pos": 194, "site_seq": "G", "up_seq": "MAQLSRWDRGTNHLLFNMLP", "down_seq": "GPPDYNTALDVPRDRALLAG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.194.194", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 195, "end_pos": 195, "site_seq": "G", "up_seq": "AQLSRWDRGTNHLLFNMLPG", "down_seq": "PPDYNTALDVPRDRALLAGG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.195.195", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 196, "end_pos": 196, "site_seq": "P", "up_seq": "QLSRWDRGTNHLLFNMLPGG", "down_seq": "PDYNTALDVPRDRALLAGGG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.196.196", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 197, "end_pos": 197, "site_seq": "P", "up_seq": "LSRWDRGTNHLLFNMLPGGP", "down_seq": "DYNTALDVPRDRALLAGGGF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.197.197", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 198, "end_pos": 198, "site_seq": "D", "up_seq": "SRWDRGTNHLLFNMLPGGPP", "down_seq": "YNTALDVPRDRALLAGGGFS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.198.198", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 19, "end_pos": 19, "site_seq": "K", "up_seq": "MCASVKYNIRGPALIPRM", "down_seq": "TKHRIYYITLFSIVLLGLIA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.19.19", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 200, "end_pos": 200, "site_seq": "N", "up_seq": "WDRGTNHLLFNMLPGGPPDY", "down_seq": "TALDVPRDRALLAGGGFSTW", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.200.200", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 201, "end_pos": 201, "site_seq": "T", "up_seq": "DRGTNHLLFNMLPGGPPDYN", "down_seq": "ALDVPRDRALLAGGGFSTWT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.201.201", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 203, "end_pos": 203, "site_seq": "L", "up_seq": "GTNHLLFNMLPGGPPDYNTA", "down_seq": "DVPRDRALLAGGGFSTWTYR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.203.203", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 204, "end_pos": 204, "site_seq": "D", "up_seq": "TNHLLFNMLPGGPPDYNTAL", "down_seq": "VPRDRALLAGGGFSTWTYRQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.204.204", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 205, "end_pos": 205, "site_seq": "V", "up_seq": "NHLLFNMLPGGPPDYNTALD", "down_seq": "PRDRALLAGGGFSTWTYRQG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.205.205", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 206, "end_pos": 206, "site_seq": "P", "up_seq": "HLLFNMLPGGPPDYNTALDV", "down_seq": "RDRALLAGGGFSTWTYRQGY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.206.206", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 208, "end_pos": 208, "site_seq": "D", "up_seq": "LFNMLPGGPPDYNTALDVPR", "down_seq": "RALLAGGGFSTWTYRQGYDV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.208.208", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 209, "end_pos": 209, "site_seq": "R", "up_seq": "FNMLPGGPPDYNTALDVPRD", "down_seq": "ALLAGGGFSTWTYRQGYDVS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.209.209", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 20, "end_pos": 20, "site_seq": "T", "up_seq": "", "down_seq": "KHRIYYITLFSIVLLGLIAT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.20.20", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 210, "end_pos": 210, "site_seq": "A", "up_seq": "NMLPGGPPDYNTALDVPRDR", "down_seq": "LLAGGGFSTWTYRQGYDVSI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.210.210", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 211, "end_pos": 211, "site_seq": "L", "up_seq": "MLPGGPPDYNTALDVPRDRA", "down_seq": "LAGGGFSTWTYRQGYDVSIP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.211.211", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 212, "end_pos": 212, "site_seq": "L", "up_seq": "LPGGPPDYNTALDVPRDRAL", "down_seq": "AGGGFSTWTYRQGYDVSIPV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.212.212", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 213, "end_pos": 213, "site_seq": "A", "up_seq": "PGGPPDYNTALDVPRDRALL", "down_seq": "GGGFSTWTYRQGYDVSIPVY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.213.213", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 214, "end_pos": 214, "site_seq": "G", "up_seq": "GGPPDYNTALDVPRDRALLA", "down_seq": "GGFSTWTYRQGYDVSIPVYS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.214.214", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 215, "end_pos": 215, "site_seq": "G", "up_seq": "GPPDYNTALDVPRDRALLAG", "down_seq": "GFSTWTYRQGYDVSIPVYSP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.215.215", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 216, "end_pos": 216, "site_seq": "G", "up_seq": "PPDYNTALDVPRDRALLAGG", "down_seq": "FSTWTYRQGYDVSIPVYSPL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.216.216", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 217, "end_pos": 217, "site_seq": "F", "up_seq": "PDYNTALDVPRDRALLAGGG", "down_seq": "STWTYRQGYDVSIPVYSPLS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.217.217", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 218, "end_pos": 218, "site_seq": "S", "up_seq": "DYNTALDVPRDRALLAGGGF", "down_seq": "TWTYRQGYDVSIPVYSPLSA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.218.218", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 219, "end_pos": 219, "site_seq": "T", "up_seq": "YNTALDVPRDRALLAGGGFS", "down_seq": "WTYRQGYDVSIPVYSPLSAE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.219.219", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 21, "end_pos": 21, "site_seq": "K", "up_seq": "MCASVKYNIRGPALIPRMKT", "down_seq": "HRIYYITLFSIVLLGLIATG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.21.21", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 220, "end_pos": 220, "site_seq": "W", "up_seq": "NTALDVPRDRALLAGGGFST", "down_seq": "TYRQGYDVSIPVYSPLSAEV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.220.220", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 221, "end_pos": 221, "site_seq": "T", "up_seq": "TALDVPRDRALLAGGGFSTW", "down_seq": "YRQGYDVSIPVYSPLSAEVD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.221.221", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 222, "end_pos": 222, "site_seq": "Y", "up_seq": "ALDVPRDRALLAGGGFSTWT", "down_seq": "RQGYDVSIPVYSPLSAEVDL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.222.222", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 223, "end_pos": 223, "site_seq": "R", "up_seq": "LDVPRDRALLAGGGFSTWTY", "down_seq": "QGYDVSIPVYSPLSAEVDLP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.223.223", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 224, "end_pos": 224, "site_seq": "Q", "up_seq": "DVPRDRALLAGGGFSTWTYR", "down_seq": "GYDVSIPVYSPLSAEVDLPE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.224.224", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 225, "end_pos": 225, "site_seq": "G", "up_seq": "VPRDRALLAGGGFSTWTYRQ", "down_seq": "YDVSIPVYSPLSAEVDLPEK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.225.225", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 226, "end_pos": 226, "site_seq": "Y", "up_seq": "PRDRALLAGGGFSTWTYRQG", "down_seq": "DVSIPVYSPLSAEVDLPEKG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.226.226", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 228, "end_pos": 228, "site_seq": "V", "up_seq": "DRALLAGGGFSTWTYRQGYD", "down_seq": "SIPVYSPLSAEVDLPEKGPG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.228.228", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 229, "end_pos": 229, "site_seq": "S", "up_seq": "RALLAGGGFSTWTYRQGYDV", "down_seq": "IPVYSPLSAEVDLPEKGPGP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.229.229", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 22, "end_pos": 22, "site_seq": "H", "up_seq": "CASVKYNIRGPALIPRMKTK", "down_seq": "RIYYITLFSIVLLGLIATGM", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.22.22", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 230, "end_pos": 230, "site_seq": "I", "up_seq": "ALLAGGGFSTWTYRQGYDVS", "down_seq": "PVYSPLSAEVDLPEKGPGPR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.230.230", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 231, "end_pos": 231, "site_seq": "P", "up_seq": "LLAGGGFSTWTYRQGYDVSI", "down_seq": "VYSPLSAEVDLPEKGPGPRQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.231.231", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 232, "end_pos": 232, "site_seq": "V", "up_seq": "LAGGGFSTWTYRQGYDVSIP", "down_seq": "YSPLSAEVDLPEKGPGPRQY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.232.232", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 233, "end_pos": 233, "site_seq": "Y", "up_seq": "AGGGFSTWTYRQGYDVSIPV", "down_seq": "SPLSAEVDLPEKGPGPRQYF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 6, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.233.233", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 234, "end_pos": 234, "site_seq": "S", "up_seq": "GGGFSTWTYRQGYDVSIPVY", "down_seq": "PLSAEVDLPEKGPGPRQYFL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.234.234", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 235, "end_pos": 235, "site_seq": "P", "up_seq": "GGFSTWTYRQGYDVSIPVYS", "down_seq": "LSAEVDLPEKGPGPRQYFLL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.235.235", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 236, "end_pos": 236, "site_seq": "L", "up_seq": "GFSTWTYRQGYDVSIPVYSP", "down_seq": "SAEVDLPEKGPGPRQYFLLS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.236.236", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 237, "end_pos": 237, "site_seq": "S", "up_seq": "FSTWTYRQGYDVSIPVYSPL", "down_seq": "AEVDLPEKGPGPRQYFLLSS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.237.237", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 238, "end_pos": 238, "site_seq": "A", "up_seq": "STWTYRQGYDVSIPVYSPLS", "down_seq": "EVDLPEKGPGPRQYFLLSSQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.238.238", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 239, "end_pos": 239, "site_seq": "E", "up_seq": "TWTYRQGYDVSIPVYSPLSA", "down_seq": "VDLPEKGPGPRQYFLLSSQV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.239.239", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 23, "end_pos": 23, "site_seq": "R", "up_seq": "ASVKYNIRGPALIPRMKTKH", "down_seq": "IYYITLFSIVLLGLIATGMF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.23.23", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 240, "end_pos": 240, "site_seq": "V", "up_seq": "WTYRQGYDVSIPVYSPLSAE", "down_seq": "DLPEKGPGPRQYFLLSSQVG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.240.240", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 241, "end_pos": 241, "site_seq": "D", "up_seq": "TYRQGYDVSIPVYSPLSAEV", "down_seq": "LPEKGPGPRQYFLLSSQVGL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 6, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.241.241", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 242, "end_pos": 242, "site_seq": "L", "up_seq": "YRQGYDVSIPVYSPLSAEVD", "down_seq": "PEKGPGPRQYFLLSSQVGLH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.242.242", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 243, "end_pos": 243, "site_seq": "P", "up_seq": "RQGYDVSIPVYSPLSAEVDL", "down_seq": "EKGPGPRQYFLLSSQVGLHP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.243.243", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 244, "end_pos": 244, "site_seq": "E", "up_seq": "QGYDVSIPVYSPLSAEVDLP", "down_seq": "KGPGPRQYFLLSSQVGLHPE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.244.244", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 245, "end_pos": 245, "site_seq": "K", "up_seq": "GYDVSIPVYSPLSAEVDLPE", "down_seq": "GPGPRQYFLLSSQVGLHPEY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.245.245", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 246, "end_pos": 246, "site_seq": "G", "up_seq": "YDVSIPVYSPLSAEVDLPEK", "down_seq": "PGPRQYFLLSSQVGLHPEYR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.246.246", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 247, "end_pos": 247, "site_seq": "P", "up_seq": "DVSIPVYSPLSAEVDLPEKG", "down_seq": "GPRQYFLLSSQVGLHPEYRE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 6, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.247.247", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 248, "end_pos": 248, "site_seq": "G", "up_seq": "VSIPVYSPLSAEVDLPEKGP", "down_seq": "PRQYFLLSSQVGLHPEYRED", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.248.248", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 249, "end_pos": 249, "site_seq": "P", "up_seq": "SIPVYSPLSAEVDLPEKGPG", "down_seq": "RQYFLLSSQVGLHPEYREDL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.249.249", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 250, "end_pos": 250, "site_seq": "R", "up_seq": "IPVYSPLSAEVDLPEKGPGP", "down_seq": "QYFLLSSQVGLHPEYREDLE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.250.250", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 251, "end_pos": 251, "site_seq": "Q", "up_seq": "PVYSPLSAEVDLPEKGPGPR", "down_seq": "YFLLSSQVGLHPEYREDLEA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.251.251", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 252, "end_pos": 252, "site_seq": "Y", "up_seq": "VYSPLSAEVDLPEKGPGPRQ", "down_seq": "FLLSSQVGLHPEYREDLEAL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.252.252", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 253, "end_pos": 253, "site_seq": "F", "up_seq": "YSPLSAEVDLPEKGPGPRQY", "down_seq": "LLSSQVGLHPEYREDLEALQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.253.253", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 254, "end_pos": 254, "site_seq": "L", "up_seq": "SPLSAEVDLPEKGPGPRQYF", "down_seq": "LSSQVGLHPEYREDLEALQV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.254.254", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 255, "end_pos": 255, "site_seq": "L", "up_seq": "PLSAEVDLPEKGPGPRQYFL", "down_seq": "SSQVGLHPEYREDLEALQVK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.255.255", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 256, "end_pos": 256, "site_seq": "S", "up_seq": "LSAEVDLPEKGPGPRQYFLL", "down_seq": "SQVGLHPEYREDLEALQVKH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.256.256", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 257, "end_pos": 257, "site_seq": "S", "up_seq": "SAEVDLPEKGPGPRQYFLLS", "down_seq": "QVGLHPEYREDLEALQVKHG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.257.257", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 258, "end_pos": 258, "site_seq": "Q", "up_seq": "AEVDLPEKGPGPRQYFLLSS", "down_seq": "VGLHPEYREDLEALQVKHGE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.258.258", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 25, "end_pos": 25, "site_seq": "Y", "up_seq": "VKYNIRGPALIPRMKTKHRI", "down_seq": "YITLFSIVLLGLIATGMFQF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.25.25", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 260, "end_pos": 260, "site_seq": "G", "up_seq": "VDLPEKGPGPRQYFLLSSQV", "down_seq": "LHPEYREDLEALQVKHGESV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.260.260", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 261, "end_pos": 261, "site_seq": "L", "up_seq": "DLPEKGPGPRQYFLLSSQVG", "down_seq": "HPEYREDLEALQVKHGESVL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.261.261", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 262, "end_pos": 262, "site_seq": "H", "up_seq": "LPEKGPGPRQYFLLSSQVGL", "down_seq": "PEYREDLEALQVKHGESVLV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.262.262", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 263, "end_pos": 263, "site_seq": "P", "up_seq": "PEKGPGPRQYFLLSSQVGLH", "down_seq": "EYREDLEALQVKHGESVLVL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.263.263", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 264, "end_pos": 264, "site_seq": "E", "up_seq": "EKGPGPRQYFLLSSQVGLHP", "down_seq": "YREDLEALQVKHGESVLVLD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.264.264", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 265, "end_pos": 265, "site_seq": "Y", "up_seq": "KGPGPRQYFLLSSQVGLHPE", "down_seq": "REDLEALQVKHGESVLVLDK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.265.265", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 268, "end_pos": 268, "site_seq": "D", "up_seq": "GPRQYFLLSSQVGLHPEYRE", "down_seq": "LEALQVKHGESVLVLDKCTN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.268.268", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 269, "end_pos": 269, "site_seq": "L", "up_seq": "PRQYFLLSSQVGLHPEYRED", "down_seq": "EALQVKHGESVLVLDKCTNL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.269.269", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 26, "end_pos": 26, "site_seq": "Y", "up_seq": "KYNIRGPALIPRMKTKHRIY", "down_seq": "ITLFSIVLLGLIATGMFQFW", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.26.26", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 271, "end_pos": 271, "site_seq": "A", "up_seq": "QYFLLSSQVGLHPEYREDLE", "down_seq": "LQVKHGESVLVLDKCTNLSE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.271.271", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 272, "end_pos": 272, "site_seq": "L", "up_seq": "YFLLSSQVGLHPEYREDLEA", "down_seq": "QVKHGESVLVLDKCTNLSEG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.272.272", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 273, "end_pos": 273, "site_seq": "Q", "up_seq": "FLLSSQVGLHPEYREDLEAL", "down_seq": "VKHGESVLVLDKCTNLSEGV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.273.273", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 274, "end_pos": 274, "site_seq": "V", "up_seq": "LLSSQVGLHPEYREDLEALQ", "down_seq": "KHGESVLVLDKCTNLSEGVL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.274.274", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 276, "end_pos": 276, "site_seq": "H", "up_seq": "SSQVGLHPEYREDLEALQVK", "down_seq": "GESVLVLDKCTNLSEGVLSV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.276.276", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 277, "end_pos": 277, "site_seq": "G", "up_seq": "SQVGLHPEYREDLEALQVKH", "down_seq": "ESVLVLDKCTNLSEGVLSVR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.277.277", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 278, "end_pos": 278, "site_seq": "E", "up_seq": "QVGLHPEYREDLEALQVKHG", "down_seq": "SVLVLDKCTNLSEGVLSVRK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.278.278", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 279, "end_pos": 279, "site_seq": "S", "up_seq": "VGLHPEYREDLEALQVKHGE", "down_seq": "VLVLDKCTNLSEGVLSVRKR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.279.279", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 280, "end_pos": 280, "site_seq": "V", "up_seq": "GLHPEYREDLEALQVKHGES", "down_seq": "LVLDKCTNLSEGVLSVRKRC", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.280.280", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 282, "end_pos": 282, "site_seq": "V", "up_seq": "HPEYREDLEALQVKHGESVL", "down_seq": "LDKCTNLSEGVLSVRKRCHK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.282.282", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 283, "end_pos": 283, "site_seq": "L", "up_seq": "PEYREDLEALQVKHGESVLV", "down_seq": "DKCTNLSEGVLSVRKRCHKH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.283.283", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 286, "end_pos": 286, "site_seq": "C", "up_seq": "REDLEALQVKHGESVLVLDK", "down_seq": "TNLSEGVLSVRKRCHKHQVF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.286.286", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 287, "end_pos": 287, "site_seq": "T", "up_seq": "EDLEALQVKHGESVLVLDKC", "down_seq": "NLSEGVLSVRKRCHKHQVFD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.287.287", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 289, "end_pos": 289, "site_seq": "L", "up_seq": "LEALQVKHGESVLVLDKCTN", "down_seq": "SEGVLSVRKRCHKHQVFDYP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.289.289", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 28, "end_pos": 28, "site_seq": "T", "up_seq": "NIRGPALIPRMKTKHRIYYI", "down_seq": "LFSIVLLGLIATGMFQFWPH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.28.28", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 291, "end_pos": 291, "site_seq": "E", "up_seq": "ALQVKHGESVLVLDKCTNLS", "down_seq": "GVLSVRKRCHKHQVFDYPQV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.291.291", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 292, "end_pos": 292, "site_seq": "G", "up_seq": "LQVKHGESVLVLDKCTNLSE", "down_seq": "VLSVRKRCHKHQVFDYPQVL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.292.292", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 293, "end_pos": 293, "site_seq": "V", "up_seq": "QVKHGESVLVLDKCTNLSEG", "down_seq": "LSVRKRCHKHQVFDYPQVLQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.293.293", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 296, "end_pos": 296, "site_seq": "V", "up_seq": "HGESVLVLDKCTNLSEGVLS", "down_seq": "RKRCHKHQVFDYPQVLQEAT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.296.296", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 297, "end_pos": 297, "site_seq": "R", "up_seq": "GESVLVLDKCTNLSEGVLSV", "down_seq": "KRCHKHQVFDYPQVLQEATF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.297.297", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 299, "end_pos": 299, "site_seq": "R", "up_seq": "SVLVLDKCTNLSEGVLSVRK", "down_seq": "CHKHQVFDYPQVLQEATFCV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.299.299", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 29, "end_pos": 29, "site_seq": "L", "up_seq": "IRGPALIPRMKTKHRIYYIT", "down_seq": "FSIVLLGLIATGMFQFWPHS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.29.29", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 2, "end_pos": 2, "site_seq": "C", "up_seq": "M", "down_seq": "ASVKYNIRGPALIPRMKTKH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.2.2", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 300, "end_pos": 300, "site_seq": "C", "up_seq": "VLVLDKCTNLSEGVLSVRKR", "down_seq": "HKHQVFDYPQVLQEATFCVV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.300.300", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 302, "end_pos": 302, "site_seq": "K", "up_seq": "VLDKCTNLSEGVLSVRKRCH", "down_seq": "HQVFDYPQVLQEATFCVVLR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.302.302", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 303, "end_pos": 303, "site_seq": "H", "up_seq": "LDKCTNLSEGVLSVRKRCHK", "down_seq": "QVFDYPQVLQEATFCVVLRG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.303.303", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 304, "end_pos": 304, "site_seq": "Q", "up_seq": "DKCTNLSEGVLSVRKRCHKH", "down_seq": "VFDYPQVLQEATFCVVLRGA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.304.304", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 305, "end_pos": 305, "site_seq": "V", "up_seq": "KCTNLSEGVLSVRKRCHKHQ", "down_seq": "FDYPQVLQEATFCVVLRGAR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.305.305", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 306, "end_pos": 306, "site_seq": "F", "up_seq": "CTNLSEGVLSVRKRCHKHQV", "down_seq": "DYPQVLQEATFCVVLRGARL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.306.306", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 307, "end_pos": 307, "site_seq": "D", "up_seq": "TNLSEGVLSVRKRCHKHQVF", "down_seq": "YPQVLQEATFCVVLRGARLG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.307.307", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 309, "end_pos": 309, "site_seq": "P", "up_seq": "LSEGVLSVRKRCHKHQVFDY", "down_seq": "QVLQEATFCVVLRGARLGQA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.309.309", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 30, "end_pos": 30, "site_seq": "F", "up_seq": "RGPALIPRMKTKHRIYYITL", "down_seq": "SIVLLGLIATGMFQFWPHSI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.30.30", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 310, "end_pos": 310, "site_seq": "Q", "up_seq": "SEGVLSVRKRCHKHQVFDYP", "down_seq": "VLQEATFCVVLRGARLGQAV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.310.310", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 311, "end_pos": 311, "site_seq": "V", "up_seq": "EGVLSVRKRCHKHQVFDYPQ", "down_seq": "LQEATFCVVLRGARLGQAVL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.311.311", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 312, "end_pos": 312, "site_seq": "L", "up_seq": "GVLSVRKRCHKHQVFDYPQV", "down_seq": "QEATFCVVLRGARLGQAVLS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.312.312", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 313, "end_pos": 313, "site_seq": "Q", "up_seq": "VLSVRKRCHKHQVFDYPQVL", "down_seq": "EATFCVVLRGARLGQAVLSD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.313.313", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 315, "end_pos": 315, "site_seq": "A", "up_seq": "SVRKRCHKHQVFDYPQVLQE", "down_seq": "TFCVVLRGARLGQAVLSDVL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.315.315", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 316, "end_pos": 316, "site_seq": "T", "up_seq": "VRKRCHKHQVFDYPQVLQEA", "down_seq": "FCVVLRGARLGQAVLSDVLQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.316.316", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 317, "end_pos": 317, "site_seq": "F", "up_seq": "RKRCHKHQVFDYPQVLQEAT", "down_seq": "CVVLRGARLGQAVLSDVLQA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.317.317", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 318, "end_pos": 318, "site_seq": "C", "up_seq": "KRCHKHQVFDYPQVLQEATF", "down_seq": "VVLRGARLGQAVLSDVLQAG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.318.318", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 319, "end_pos": 319, "site_seq": "V", "up_seq": "RCHKHQVFDYPQVLQEATFC", "down_seq": "VLRGARLGQAVLSDVLQAGC", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.319.319", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 31, "end_pos": 31, "site_seq": "S", "up_seq": "GPALIPRMKTKHRIYYITLF", "down_seq": "IVLLGLIATGMFQFWPHSIE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.31.31", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 320, "end_pos": 320, "site_seq": "V", "up_seq": "CHKHQVFDYPQVLQEATFCV", "down_seq": "LRGARLGQAVLSDVLQAGCV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.320.320", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 321, "end_pos": 321, "site_seq": "L", "up_seq": "HKHQVFDYPQVLQEATFCVV", "down_seq": "RGARLGQAVLSDVLQAGCVP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.321.321", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 322, "end_pos": 322, "site_seq": "R", "up_seq": "KHQVFDYPQVLQEATFCVVL", "down_seq": "GARLGQAVLSDVLQAGCVPV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.322.322", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 323, "end_pos": 323, "site_seq": "G", "up_seq": "HQVFDYPQVLQEATFCVVLR", "down_seq": "ARLGQAVLSDVLQAGCVPVV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.323.323", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 324, "end_pos": 324, "site_seq": "A", "up_seq": "QVFDYPQVLQEATFCVVLRG", "down_seq": "RLGQAVLSDVLQAGCVPVVI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.324.324", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 327, "end_pos": 327, "site_seq": "G", "up_seq": "DYPQVLQEATFCVVLRGARL", "down_seq": "QAVLSDVLQAGCVPVVIADS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.327.327", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 329, "end_pos": 329, "site_seq": "A", "up_seq": "PQVLQEATFCVVLRGARLGQ", "down_seq": "VLSDVLQAGCVPVVIADSYI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.329.329", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 32, "end_pos": 32, "site_seq": "I", "up_seq": "PALIPRMKTKHRIYYITLFS", "down_seq": "VLLGLIATGMFQFWPHSIES", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.32.32", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 330, "end_pos": 330, "site_seq": "V", "up_seq": "QVLQEATFCVVLRGARLGQA", "down_seq": "LSDVLQAGCVPVVIADSYIL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.330.330", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 332, "end_pos": 332, "site_seq": "S", "up_seq": "LQEATFCVVLRGARLGQAVL", "down_seq": "DVLQAGCVPVVIADSYILPF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.332.332", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 333, "end_pos": 333, "site_seq": "D", "up_seq": "QEATFCVVLRGARLGQAVLS", "down_seq": "VLQAGCVPVVIADSYILPFS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.333.333", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 334, "end_pos": 334, "site_seq": "V", "up_seq": "EATFCVVLRGARLGQAVLSD", "down_seq": "LQAGCVPVVIADSYILPFSE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.334.334", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 335, "end_pos": 335, "site_seq": "L", "up_seq": "ATFCVVLRGARLGQAVLSDV", "down_seq": "QAGCVPVVIADSYILPFSEV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.335.335", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 336, "end_pos": 336, "site_seq": "Q", "up_seq": "TFCVVLRGARLGQAVLSDVL", "down_seq": "AGCVPVVIADSYILPFSEVL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.336.336", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 338, "end_pos": 338, "site_seq": "G", "up_seq": "CVVLRGARLGQAVLSDVLQA", "down_seq": "CVPVVIADSYILPFSEVLDW", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.338.338", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 339, "end_pos": 339, "site_seq": "C", "up_seq": "VVLRGARLGQAVLSDVLQAG", "down_seq": "VPVVIADSYILPFSEVLDWK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.339.339", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 33, "end_pos": 33, "site_seq": "V", "up_seq": "ALIPRMKTKHRIYYITLFSI", "down_seq": "LLGLIATGMFQFWPHSIESS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.33.33", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 340, "end_pos": 340, "site_seq": "V", "up_seq": "VLRGARLGQAVLSDVLQAGC", "down_seq": "PVVIADSYILPFSEVLDWKR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.340.340", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 341, "end_pos": 341, "site_seq": "P", "up_seq": "LRGARLGQAVLSDVLQAGCV", "down_seq": "VVIADSYILPFSEVLDWKRA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.341.341", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 342, "end_pos": 342, "site_seq": "V", "up_seq": "RGARLGQAVLSDVLQAGCVP", "down_seq": "VIADSYILPFSEVLDWKRAS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.342.342", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 344, "end_pos": 344, "site_seq": "I", "up_seq": "ARLGQAVLSDVLQAGCVPVV", "down_seq": "ADSYILPFSEVLDWKRASVV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.344.344", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 345, "end_pos": 345, "site_seq": "A", "up_seq": "RLGQAVLSDVLQAGCVPVVI", "down_seq": "DSYILPFSEVLDWKRASVVV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.345.345", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 346, "end_pos": 346, "site_seq": "D", "up_seq": "LGQAVLSDVLQAGCVPVVIA", "down_seq": "SYILPFSEVLDWKRASVVVP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.346.346", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 347, "end_pos": 347, "site_seq": "S", "up_seq": "GQAVLSDVLQAGCVPVVIAD", "down_seq": "YILPFSEVLDWKRASVVVPE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.347.347", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 348, "end_pos": 348, "site_seq": "Y", "up_seq": "QAVLSDVLQAGCVPVVIADS", "down_seq": "ILPFSEVLDWKRASVVVPEE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.348.348", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 349, "end_pos": 349, "site_seq": "I", "up_seq": "AVLSDVLQAGCVPVVIADSY", "down_seq": "LPFSEVLDWKRASVVVPEEK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.349.349", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 34, "end_pos": 34, "site_seq": "L", "up_seq": "LIPRMKTKHRIYYITLFSIV", "down_seq": "LGLIATGMFQFWPHSIESSN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.34.34", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 350, "end_pos": 350, "site_seq": "L", "up_seq": "VLSDVLQAGCVPVVIADSYI", "down_seq": "PFSEVLDWKRASVVVPEEKM", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.350.350", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 351, "end_pos": 351, "site_seq": "P", "up_seq": "LSDVLQAGCVPVVIADSYIL", "down_seq": "FSEVLDWKRASVVVPEEKMS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.351.351", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 352, "end_pos": 352, "site_seq": "F", "up_seq": "SDVLQAGCVPVVIADSYILP", "down_seq": "SEVLDWKRASVVVPEEKMSD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.352.352", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 354, "end_pos": 354, "site_seq": "E", "up_seq": "VLQAGCVPVVIADSYILPFS", "down_seq": "VLDWKRASVVVPEEKMSDVY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.354.354", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 356, "end_pos": 356, "site_seq": "L", "up_seq": "QAGCVPVVIADSYILPFSEV", "down_seq": "DWKRASVVVPEEKMSDVYSI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.356.356", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 357, "end_pos": 357, "site_seq": "D", "up_seq": "AGCVPVVIADSYILPFSEVL", "down_seq": "WKRASVVVPEEKMSDVYSIL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.357.357", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 358, "end_pos": 358, "site_seq": "W", "up_seq": "GCVPVVIADSYILPFSEVLD", "down_seq": "KRASVVVPEEKMSDVYSILQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.358.358", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 359, "end_pos": 359, "site_seq": "K", "up_seq": "CVPVVIADSYILPFSEVLDW", "down_seq": "RASVVVPEEKMSDVYSILQS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.359.359", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 35, "end_pos": 35, "site_seq": "L", "up_seq": "IPRMKTKHRIYYITLFSIVL", "down_seq": "GLIATGMFQFWPHSIESSND", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.35.35", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 361, "end_pos": 361, "site_seq": "A", "up_seq": "PVVIADSYILPFSEVLDWKR", "down_seq": "SVVVPEEKMSDVYSILQSIP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.361.361", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 362, "end_pos": 362, "site_seq": "S", "up_seq": "VVIADSYILPFSEVLDWKRA", "down_seq": "VVVPEEKMSDVYSILQSIPQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.362.362", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 363, "end_pos": 363, "site_seq": "V", "up_seq": "VIADSYILPFSEVLDWKRAS", "down_seq": "VVPEEKMSDVYSILQSIPQR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.363.363", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 364, "end_pos": 364, "site_seq": "V", "up_seq": "IADSYILPFSEVLDWKRASV", "down_seq": "VPEEKMSDVYSILQSIPQRQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.364.364", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 365, "end_pos": 365, "site_seq": "V", "up_seq": "ADSYILPFSEVLDWKRASVV", "down_seq": "PEEKMSDVYSILQSIPQRQI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.365.365", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 366, "end_pos": 366, "site_seq": "P", "up_seq": "DSYILPFSEVLDWKRASVVV", "down_seq": "EEKMSDVYSILQSIPQRQIE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.366.366", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 367, "end_pos": 367, "site_seq": "E", "up_seq": "SYILPFSEVLDWKRASVVVP", "down_seq": "EKMSDVYSILQSIPQRQIEE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.367.367", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 368, "end_pos": 368, "site_seq": "E", "up_seq": "YILPFSEVLDWKRASVVVPE", "down_seq": "KMSDVYSILQSIPQRQIEEM", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.368.368", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 36, "end_pos": 36, "site_seq": "G", "up_seq": "PRMKTKHRIYYITLFSIVLL", "down_seq": "LIATGMFQFWPHSIESSNDW", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.36.36", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 370, "end_pos": 370, "site_seq": "M", "up_seq": "LPFSEVLDWKRASVVVPEEK", "down_seq": "SDVYSILQSIPQRQIEEMQR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.370.370", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 371, "end_pos": 371, "site_seq": "S", "up_seq": "PFSEVLDWKRASVVVPEEKM", "down_seq": "DVYSILQSIPQRQIEEMQRQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.371.371", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 373, "end_pos": 373, "site_seq": "V", "up_seq": "SEVLDWKRASVVVPEEKMSD", "down_seq": "YSILQSIPQRQIEEMQRQAR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.373.373", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 374, "end_pos": 374, "site_seq": "Y", "up_seq": "EVLDWKRASVVVPEEKMSDV", "down_seq": "SILQSIPQRQIEEMQRQARW", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.374.374", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 375, "end_pos": 375, "site_seq": "S", "up_seq": "VLDWKRASVVVPEEKMSDVY", "down_seq": "ILQSIPQRQIEEMQRQARWF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.375.375", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 376, "end_pos": 376, "site_seq": "I", "up_seq": "LDWKRASVVVPEEKMSDVYS", "down_seq": "LQSIPQRQIEEMQRQARWFW", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.376.376", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 377, "end_pos": 377, "site_seq": "L", "up_seq": "DWKRASVVVPEEKMSDVYSI", "down_seq": "QSIPQRQIEEMQRQARWFWE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.377.377", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 378, "end_pos": 378, "site_seq": "Q", "up_seq": "WKRASVVVPEEKMSDVYSIL", "down_seq": "SIPQRQIEEMQRQARWFWEA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.378.378", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 37, "end_pos": 37, "site_seq": "L", "up_seq": "RMKTKHRIYYITLFSIVLLG", "down_seq": "IATGMFQFWPHSIESSNDWN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.37.37", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 382, "end_pos": 382, "site_seq": "Q", "up_seq": "SVVVPEEKMSDVYSILQSIP", "down_seq": "RQIEEMQRQARWFWEAYFQS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.382.382", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 384, "end_pos": 384, "site_seq": "Q", "up_seq": "VVPEEKMSDVYSILQSIPQR", "down_seq": "IEEMQRQARWFWEAYFQSIK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.384.384", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 385, "end_pos": 385, "site_seq": "I", "up_seq": "VPEEKMSDVYSILQSIPQRQ", "down_seq": "EEMQRQARWFWEAYFQSIKA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.385.385", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 386, "end_pos": 386, "site_seq": "E", "up_seq": "PEEKMSDVYSILQSIPQRQI", "down_seq": "EMQRQARWFWEAYFQSIKAI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.386.386", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 388, "end_pos": 388, "site_seq": "M", "up_seq": "EKMSDVYSILQSIPQRQIEE", "down_seq": "QRQARWFWEAYFQSIKAIAL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.388.388", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 389, "end_pos": 389, "site_seq": "Q", "up_seq": "KMSDVYSILQSIPQRQIEEM", "down_seq": "RQARWFWEAYFQSIKAIALA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.389.389", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 38, "end_pos": 38, "site_seq": "I", "up_seq": "MKTKHRIYYITLFSIVLLGL", "down_seq": "ATGMFQFWPHSIESSNDWNV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.38.38", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 390, "end_pos": 390, "site_seq": "R", "up_seq": "MSDVYSILQSIPQRQIEEMQ", "down_seq": "QARWFWEAYFQSIKAIALAT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.390.390", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 391, "end_pos": 391, "site_seq": "Q", "up_seq": "SDVYSILQSIPQRQIEEMQR", "down_seq": "ARWFWEAYFQSIKAIALATL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.391.391", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 392, "end_pos": 392, "site_seq": "A", "up_seq": "DVYSILQSIPQRQIEEMQRQ", "down_seq": "RWFWEAYFQSIKAIALATLQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.392.392", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 393, "end_pos": 393, "site_seq": "R", "up_seq": "VYSILQSIPQRQIEEMQRQA", "down_seq": "WFWEAYFQSIKAIALATLQI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.393.393", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 394, "end_pos": 394, "site_seq": "W", "up_seq": "YSILQSIPQRQIEEMQRQAR", "down_seq": "FWEAYFQSIKAIALATLQII", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.394.394", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 395, "end_pos": 395, "site_seq": "F", "up_seq": "SILQSIPQRQIEEMQRQARW", "down_seq": "WEAYFQSIKAIALATLQIIN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.395.395", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 396, "end_pos": 396, "site_seq": "W", "up_seq": "ILQSIPQRQIEEMQRQARWF", "down_seq": "EAYFQSIKAIALATLQIIND", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.396.396", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 397, "end_pos": 397, "site_seq": "E", "up_seq": "LQSIPQRQIEEMQRQARWFW", "down_seq": "AYFQSIKAIALATLQIINDR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.397.397", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 398, "end_pos": 398, "site_seq": "A", "up_seq": "QSIPQRQIEEMQRQARWFWE", "down_seq": "YFQSIKAIALATLQIINDRI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.398.398", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 399, "end_pos": 399, "site_seq": "Y", "up_seq": "SIPQRQIEEMQRQARWFWEA", "down_seq": "FQSIKAIALATLQIINDRIY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.399.399", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 39, "end_pos": 39, "site_seq": "A", "up_seq": "KTKHRIYYITLFSIVLLGLI", "down_seq": "TGMFQFWPHSIESSNDWNVE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.39.39", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 3, "end_pos": 3, "site_seq": "A", "up_seq": "MC", "down_seq": "SVKYNIRGPALIPRMKTKHR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.3.3", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 400, "end_pos": 400, "site_seq": "F", "up_seq": "IPQRQIEEMQRQARWFWEAY", "down_seq": "QSIKAIALATLQIINDRIYP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.400.400", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 401, "end_pos": 401, "site_seq": "Q", "up_seq": "PQRQIEEMQRQARWFWEAYF", "down_seq": "SIKAIALATLQIINDRIYPY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.401.401", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 402, "end_pos": 402, "site_seq": "S", "up_seq": "QRQIEEMQRQARWFWEAYFQ", "down_seq": "IKAIALATLQIINDRIYPYA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.402.402", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 403, "end_pos": 403, "site_seq": "I", "up_seq": "RQIEEMQRQARWFWEAYFQS", "down_seq": "KAIALATLQIINDRIYPYAA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.403.403", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 404, "end_pos": 404, "site_seq": "K", "up_seq": "QIEEMQRQARWFWEAYFQSI", "down_seq": "AIALATLQIINDRIYPYAAI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.404.404", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 405, "end_pos": 405, "site_seq": "A", "up_seq": "IEEMQRQARWFWEAYFQSIK", "down_seq": "IALATLQIINDRIYPYAAIS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.405.405", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 406, "end_pos": 406, "site_seq": "I", "up_seq": "EEMQRQARWFWEAYFQSIKA", "down_seq": "ALATLQIINDRIYPYAAISY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.406.406", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 407, "end_pos": 407, "site_seq": "A", "up_seq": "EMQRQARWFWEAYFQSIKAI", "down_seq": "LATLQIINDRIYPYAAISYE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.407.407", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 408, "end_pos": 408, "site_seq": "L", "up_seq": "MQRQARWFWEAYFQSIKAIA", "down_seq": "ATLQIINDRIYPYAAISYEE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.408.408", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 409, "end_pos": 409, "site_seq": "A", "up_seq": "QRQARWFWEAYFQSIKAIAL", "down_seq": "TLQIINDRIYPYAAISYEEW", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.409.409", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 40, "end_pos": 40, "site_seq": "T", "up_seq": "TKHRIYYITLFSIVLLGLIA", "down_seq": "GMFQFWPHSIESSNDWNVEK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.40.40", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 410, "end_pos": 410, "site_seq": "T", "up_seq": "RQARWFWEAYFQSIKAIALA", "down_seq": "LQIINDRIYPYAAISYEEWN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.410.410", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 411, "end_pos": 411, "site_seq": "L", "up_seq": "QARWFWEAYFQSIKAIALAT", "down_seq": "QIINDRIYPYAAISYEEWND", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.411.411", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 412, "end_pos": 412, "site_seq": "Q", "up_seq": "ARWFWEAYFQSIKAIALATL", "down_seq": "IINDRIYPYAAISYEEWNDP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.412.412", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 413, "end_pos": 413, "site_seq": "I", "up_seq": "RWFWEAYFQSIKAIALATLQ", "down_seq": "INDRIYPYAAISYEEWNDPP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.413.413", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 415, "end_pos": 415, "site_seq": "N", "up_seq": "FWEAYFQSIKAIALATLQII", "down_seq": "DRIYPYAAISYEEWNDPPAV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.415.415", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 416, "end_pos": 416, "site_seq": "D", "up_seq": "WEAYFQSIKAIALATLQIIN", "down_seq": "RIYPYAAISYEEWNDPPAVK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.416.416", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 417, "end_pos": 417, "site_seq": "R", "up_seq": "EAYFQSIKAIALATLQIIND", "down_seq": "IYPYAAISYEEWNDPPAVKW", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.417.417", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 418, "end_pos": 418, "site_seq": "I", "up_seq": "AYFQSIKAIALATLQIINDR", "down_seq": "YPYAAISYEEWNDPPAVKWG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.418.418", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 419, "end_pos": 419, "site_seq": "Y", "up_seq": "YFQSIKAIALATLQIINDRI", "down_seq": "PYAAISYEEWNDPPAVKWGS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.419.419", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 41, "end_pos": 41, "site_seq": "G", "up_seq": "KHRIYYITLFSIVLLGLIAT", "down_seq": "MFQFWPHSIESSNDWNVEKR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.41.41", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 420, "end_pos": 420, "site_seq": "P", "up_seq": "FQSIKAIALATLQIINDRIY", "down_seq": "YAAISYEEWNDPPAVKWGSV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.420.420", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 421, "end_pos": 421, "site_seq": "Y", "up_seq": "QSIKAIALATLQIINDRIYP", "down_seq": "AAISYEEWNDPPAVKWGSVS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.421.421", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 422, "end_pos": 422, "site_seq": "A", "up_seq": "SIKAIALATLQIINDRIYPY", "down_seq": "AISYEEWNDPPAVKWGSVSN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.422.422", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 423, "end_pos": 423, "site_seq": "A", "up_seq": "IKAIALATLQIINDRIYPYA", "down_seq": "ISYEEWNDPPAVKWGSVSNP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.423.423", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 424, "end_pos": 424, "site_seq": "I", "up_seq": "KAIALATLQIINDRIYPYAA", "down_seq": "SYEEWNDPPAVKWGSVSNPL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.424.424", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 425, "end_pos": 425, "site_seq": "S", "up_seq": "AIALATLQIINDRIYPYAAI", "down_seq": "YEEWNDPPAVKWGSVSNPLF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.425.425", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 426, "end_pos": 426, "site_seq": "Y", "up_seq": "IALATLQIINDRIYPYAAIS", "down_seq": "EEWNDPPAVKWGSVSNPLFL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.426.426", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 427, "end_pos": 427, "site_seq": "E", "up_seq": "ALATLQIINDRIYPYAAISY", "down_seq": "EWNDPPAVKWGSVSNPLFLP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.427.427", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 429, "end_pos": 429, "site_seq": "W", "up_seq": "ATLQIINDRIYPYAAISYEE", "down_seq": "NDPPAVKWGSVSNPLFLPLI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.429.429", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 42, "end_pos": 42, "site_seq": "M", "up_seq": "HRIYYITLFSIVLLGLIATG", "down_seq": "FQFWPHSIESSNDWNVEKRS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.42.42", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 430, "end_pos": 430, "site_seq": "N", "up_seq": "TLQIINDRIYPYAAISYEEW", "down_seq": "DPPAVKWGSVSNPLFLPLIP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.430.430", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 431, "end_pos": 431, "site_seq": "D", "up_seq": "LQIINDRIYPYAAISYEEWN", "down_seq": "PPAVKWGSVSNPLFLPLIPP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.431.431", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 433, "end_pos": 433, "site_seq": "P", "up_seq": "IINDRIYPYAAISYEEWNDP", "down_seq": "AVKWGSVSNPLFLPLIPPQS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.433.433", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 434, "end_pos": 434, "site_seq": "A", "up_seq": "INDRIYPYAAISYEEWNDPP", "down_seq": "VKWGSVSNPLFLPLIPPQSQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.434.434", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 435, "end_pos": 435, "site_seq": "V", "up_seq": "NDRIYPYAAISYEEWNDPPA", "down_seq": "KWGSVSNPLFLPLIPPQSQG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.435.435", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 436, "end_pos": 436, "site_seq": "K", "up_seq": "DRIYPYAAISYEEWNDPPAV", "down_seq": "WGSVSNPLFLPLIPPQSQGF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.436.436", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 437, "end_pos": 437, "site_seq": "W", "up_seq": "RIYPYAAISYEEWNDPPAVK", "down_seq": "GSVSNPLFLPLIPPQSQGFT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.437.437", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 438, "end_pos": 438, "site_seq": "G", "up_seq": "IYPYAAISYEEWNDPPAVKW", "down_seq": "SVSNPLFLPLIPPQSQGFTA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.438.438", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 439, "end_pos": 439, "site_seq": "S", "up_seq": "YPYAAISYEEWNDPPAVKWG", "down_seq": "VSNPLFLPLIPPQSQGFTAI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.439.439", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 43, "end_pos": 43, "site_seq": "F", "up_seq": "RIYYITLFSIVLLGLIATGM", "down_seq": "QFWPHSIESSNDWNVEKRSI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.43.43", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 440, "end_pos": 440, "site_seq": "V", "up_seq": "PYAAISYEEWNDPPAVKWGS", "down_seq": "SNPLFLPLIPPQSQGFTAIV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.440.440", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 441, "end_pos": 441, "site_seq": "S", "up_seq": "YAAISYEEWNDPPAVKWGSV", "down_seq": "NPLFLPLIPPQSQGFTAIVL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.441.441", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 442, "end_pos": 442, "site_seq": "N", "up_seq": "AAISYEEWNDPPAVKWGSVS", "down_seq": "PLFLPLIPPQSQGFTAIVLT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.442.442", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 443, "end_pos": 443, "site_seq": "P", "up_seq": "AISYEEWNDPPAVKWGSVSN", "down_seq": "LFLPLIPPQSQGFTAIVLTY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.443.443", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 444, "end_pos": 444, "site_seq": "L", "up_seq": "ISYEEWNDPPAVKWGSVSNP", "down_seq": "FLPLIPPQSQGFTAIVLTYD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.444.444", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 446, "end_pos": 446, "site_seq": "L", "up_seq": "YEEWNDPPAVKWGSVSNPLF", "down_seq": "PLIPPQSQGFTAIVLTYDRV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.446.446", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 447, "end_pos": 447, "site_seq": "P", "up_seq": "EEWNDPPAVKWGSVSNPLFL", "down_seq": "LIPPQSQGFTAIVLTYDRVE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.447.447", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 44, "end_pos": 44, "site_seq": "Q", "up_seq": "IYYITLFSIVLLGLIATGMF", "down_seq": "FWPHSIESSNDWNVEKRSIR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.44.44", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 450, "end_pos": 450, "site_seq": "P", "up_seq": "NDPPAVKWGSVSNPLFLPLI", "down_seq": "PQSQGFTAIVLTYDRVESLF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.450.450", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 451, "end_pos": 451, "site_seq": "P", "up_seq": "DPPAVKWGSVSNPLFLPLIP", "down_seq": "QSQGFTAIVLTYDRVESLFR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.451.451", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 452, "end_pos": 452, "site_seq": "Q", "up_seq": "PPAVKWGSVSNPLFLPLIPP", "down_seq": "SQGFTAIVLTYDRVESLFRV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.452.452", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 453, "end_pos": 453, "site_seq": "S", "up_seq": "PAVKWGSVSNPLFLPLIPPQ", "down_seq": "QGFTAIVLTYDRVESLFRVI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.453.453", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 455, "end_pos": 455, "site_seq": "G", "up_seq": "VKWGSVSNPLFLPLIPPQSQ", "down_seq": "FTAIVLTYDRVESLFRVITE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.455.455", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 456, "end_pos": 456, "site_seq": "F", "up_seq": "KWGSVSNPLFLPLIPPQSQG", "down_seq": "TAIVLTYDRVESLFRVITEV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.456.456", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 457, "end_pos": 457, "site_seq": "T", "up_seq": "WGSVSNPLFLPLIPPQSQGF", "down_seq": "AIVLTYDRVESLFRVITEVS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.457.457", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 458, "end_pos": 458, "site_seq": "A", "up_seq": "GSVSNPLFLPLIPPQSQGFT", "down_seq": "IVLTYDRVESLFRVITEVSK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.458.458", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 459, "end_pos": 459, "site_seq": "I", "up_seq": "SVSNPLFLPLIPPQSQGFTA", "down_seq": "VLTYDRVESLFRVITEVSKV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.459.459", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 460, "end_pos": 460, "site_seq": "V", "up_seq": "VSNPLFLPLIPPQSQGFTAI", "down_seq": "LTYDRVESLFRVITEVSKVP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.460.460", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 462, "end_pos": 462, "site_seq": "T", "up_seq": "NPLFLPLIPPQSQGFTAIVL", "down_seq": "YDRVESLFRVITEVSKVPSL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.462.462", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 463, "end_pos": 463, "site_seq": "Y", "up_seq": "PLFLPLIPPQSQGFTAIVLT", "down_seq": "DRVESLFRVITEVSKVPSLS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.463.463", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 464, "end_pos": 464, "site_seq": "D", "up_seq": "LFLPLIPPQSQGFTAIVLTY", "down_seq": "RVESLFRVITEVSKVPSLSK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.464.464", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 465, "end_pos": 465, "site_seq": "R", "up_seq": "FLPLIPPQSQGFTAIVLTYD", "down_seq": "VESLFRVITEVSKVPSLSKL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.465.465", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 466, "end_pos": 466, "site_seq": "V", "up_seq": "LPLIPPQSQGFTAIVLTYDR", "down_seq": "ESLFRVITEVSKVPSLSKLL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.466.466", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 467, "end_pos": 467, "site_seq": "E", "up_seq": "PLIPPQSQGFTAIVLTYDRV", "down_seq": "SLFRVITEVSKVPSLSKLLV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.467.467", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 469, "end_pos": 469, "site_seq": "L", "up_seq": "IPPQSQGFTAIVLTYDRVES", "down_seq": "FRVITEVSKVPSLSKLLVVW", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.469.469", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 46, "end_pos": 46, "site_seq": "W", "up_seq": "YITLFSIVLLGLIATGMFQF", "down_seq": "PHSIESSNDWNVEKRSIRDV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.46.46", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 470, "end_pos": 470, "site_seq": "F", "up_seq": "PPQSQGFTAIVLTYDRVESL", "down_seq": "RVITEVSKVPSLSKLLVVWN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.470.470", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 471, "end_pos": 471, "site_seq": "R", "up_seq": "PQSQGFTAIVLTYDRVESLF", "down_seq": "VITEVSKVPSLSKLLVVWNN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.471.471", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 472, "end_pos": 472, "site_seq": "V", "up_seq": "QSQGFTAIVLTYDRVESLFR", "down_seq": "ITEVSKVPSLSKLLVVWNNQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.472.472", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 473, "end_pos": 473, "site_seq": "I", "up_seq": "SQGFTAIVLTYDRVESLFRV", "down_seq": "TEVSKVPSLSKLLVVWNNQN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.473.473", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 474, "end_pos": 474, "site_seq": "T", "up_seq": "QGFTAIVLTYDRVESLFRVI", "down_seq": "EVSKVPSLSKLLVVWNNQNK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.474.474", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 475, "end_pos": 475, "site_seq": "E", "up_seq": "GFTAIVLTYDRVESLFRVIT", "down_seq": "VSKVPSLSKLLVVWNNQNKN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.475.475", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 476, "end_pos": 476, "site_seq": "V", "up_seq": "FTAIVLTYDRVESLFRVITE", "down_seq": "SKVPSLSKLLVVWNNQNKNP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.476.476", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 477, "end_pos": 477, "site_seq": "S", "up_seq": "TAIVLTYDRVESLFRVITEV", "down_seq": "KVPSLSKLLVVWNNQNKNPP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.477.477", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 478, "end_pos": 478, "site_seq": "K", "up_seq": "AIVLTYDRVESLFRVITEVS", "down_seq": "VPSLSKLLVVWNNQNKNPPE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.478.478", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 479, "end_pos": 479, "site_seq": "V", "up_seq": "IVLTYDRVESLFRVITEVSK", "down_seq": "PSLSKLLVVWNNQNKNPPED", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.479.479", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 47, "end_pos": 47, "site_seq": "P", "up_seq": "ITLFSIVLLGLIATGMFQFW", "down_seq": "HSIESSNDWNVEKRSIRDVP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.47.47", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 480, "end_pos": 480, "site_seq": "P", "up_seq": "VLTYDRVESLFRVITEVSKV", "down_seq": "SLSKLLVVWNNQNKNPPEDS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.480.480", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 483, "end_pos": 483, "site_seq": "S", "up_seq": "YDRVESLFRVITEVSKVPSL", "down_seq": "KLLVVWNNQNKNPPEDSLWP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.483.483", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 484, "end_pos": 484, "site_seq": "K", "up_seq": "DRVESLFRVITEVSKVPSLS", "down_seq": "LLVVWNNQNKNPPEDSLWPK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.484.484", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 485, "end_pos": 485, "site_seq": "L", "up_seq": "RVESLFRVITEVSKVPSLSK", "down_seq": "LVVWNNQNKNPPEDSLWPKI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.485.485", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 486, "end_pos": 486, "site_seq": "L", "up_seq": "VESLFRVITEVSKVPSLSKL", "down_seq": "VVWNNQNKNPPEDSLWPKIR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.486.486", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 488, "end_pos": 488, "site_seq": "V", "up_seq": "SLFRVITEVSKVPSLSKLLV", "down_seq": "WNNQNKNPPEDSLWPKIRVP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.488.488", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 489, "end_pos": 489, "site_seq": "W", "up_seq": "LFRVITEVSKVPSLSKLLVV", "down_seq": "NNQNKNPPEDSLWPKIRVPL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.489.489", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 48, "end_pos": 48, "site_seq": "H", "up_seq": "TLFSIVLLGLIATGMFQFWP", "down_seq": "SIESSNDWNVEKRSIRDVPV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.48.48", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 492, "end_pos": 492, "site_seq": "Q", "up_seq": "VITEVSKVPSLSKLLVVWNN", "down_seq": "NKNPPEDSLWPKIRVPLKVV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.492.492", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 494, "end_pos": 494, "site_seq": "K", "up_seq": "TEVSKVPSLSKLLVVWNNQN", "down_seq": "NPPEDSLWPKIRVPLKVVRT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.494.494", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 496, "end_pos": 496, "site_seq": "P", "up_seq": "VSKVPSLSKLLVVWNNQNKN", "down_seq": "PEDSLWPKIRVPLKVVRTAE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 5, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.496.496", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 497, "end_pos": 497, "site_seq": "P", "up_seq": "SKVPSLSKLLVVWNNQNKNP", "down_seq": "EDSLWPKIRVPLKVVRTAEN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.497.497", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 498, "end_pos": 498, "site_seq": "E", "up_seq": "KVPSLSKLLVVWNNQNKNPP", "down_seq": "DSLWPKIRVPLKVVRTAENK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.498.498", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 499, "end_pos": 499, "site_seq": "D", "up_seq": "VPSLSKLLVVWNNQNKNPPE", "down_seq": "SLWPKIRVPLKVVRTAENKL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.499.499", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 49, "end_pos": 49, "site_seq": "S", "up_seq": "LFSIVLLGLIATGMFQFWPH", "down_seq": "IESSNDWNVEKRSIRDVPVV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.49.49", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 4, "end_pos": 4, "site_seq": "S", "up_seq": "MCA", "down_seq": "VKYNIRGPALIPRMKTKHRI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.4.4", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 500, "end_pos": 500, "site_seq": "S", "up_seq": "PSLSKLLVVWNNQNKNPPED", "down_seq": "LWPKIRVPLKVVRTAENKLS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.500.500", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 501, "end_pos": 501, "site_seq": "L", "up_seq": "SLSKLLVVWNNQNKNPPEDS", "down_seq": "WPKIRVPLKVVRTAENKLSN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.501.501", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 502, "end_pos": 502, "site_seq": "W", "up_seq": "LSKLLVVWNNQNKNPPEDSL", "down_seq": "PKIRVPLKVVRTAENKLSNR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.502.502", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 503, "end_pos": 503, "site_seq": "P", "up_seq": "SKLLVVWNNQNKNPPEDSLW", "down_seq": "KIRVPLKVVRTAENKLSNRF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.503.503", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 504, "end_pos": 504, "site_seq": "K", "up_seq": "KLLVVWNNQNKNPPEDSLWP", "down_seq": "IRVPLKVVRTAENKLSNRFF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.504.504", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 505, "end_pos": 505, "site_seq": "I", "up_seq": "LLVVWNNQNKNPPEDSLWPK", "down_seq": "RVPLKVVRTAENKLSNRFFP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.505.505", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 506, "end_pos": 506, "site_seq": "R", "up_seq": "LVVWNNQNKNPPEDSLWPKI", "down_seq": "VPLKVVRTAENKLSNRFFPY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.506.506", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 507, "end_pos": 507, "site_seq": "V", "up_seq": "VVWNNQNKNPPEDSLWPKIR", "down_seq": "PLKVVRTAENKLSNRFFPYD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.507.507", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 508, "end_pos": 508, "site_seq": "P", "up_seq": "VWNNQNKNPPEDSLWPKIRV", "down_seq": "LKVVRTAENKLSNRFFPYDE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.508.508", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 509, "end_pos": 509, "site_seq": "L", "up_seq": "WNNQNKNPPEDSLWPKIRVP", "down_seq": "KVVRTAENKLSNRFFPYDEI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.509.509", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 50, "end_pos": 50, "site_seq": "I", "up_seq": "FSIVLLGLIATGMFQFWPHS", "down_seq": "ESSNDWNVEKRSIRDVPVVR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.50.50", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 510, "end_pos": 510, "site_seq": "K", "up_seq": "NNQNKNPPEDSLWPKIRVPL", "down_seq": "VVRTAENKLSNRFFPYDEIE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.510.510", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 511, "end_pos": 511, "site_seq": "V", "up_seq": "NQNKNPPEDSLWPKIRVPLK", "down_seq": "VRTAENKLSNRFFPYDEIET", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.511.511", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 512, "end_pos": 512, "site_seq": "V", "up_seq": "QNKNPPEDSLWPKIRVPLKV", "down_seq": "RTAENKLSNRFFPYDEIETE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.512.512", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 513, "end_pos": 513, "site_seq": "R", "up_seq": "NKNPPEDSLWPKIRVPLKVV", "down_seq": "TAENKLSNRFFPYDEIETEA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.513.513", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 514, "end_pos": 514, "site_seq": "T", "up_seq": "KNPPEDSLWPKIRVPLKVVR", "down_seq": "AENKLSNRFFPYDEIETEAV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.514.514", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 515, "end_pos": 515, "site_seq": "A", "up_seq": "NPPEDSLWPKIRVPLKVVRT", "down_seq": "ENKLSNRFFPYDEIETEAVL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.515.515", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 516, "end_pos": 516, "site_seq": "E", "up_seq": "PPEDSLWPKIRVPLKVVRTA", "down_seq": "NKLSNRFFPYDEIETEAVLA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.516.516", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 517, "end_pos": 517, "site_seq": "N", "up_seq": "PEDSLWPKIRVPLKVVRTAE", "down_seq": "KLSNRFFPYDEIETEAVLAI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.517.517", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 518, "end_pos": 518, "site_seq": "K", "up_seq": "EDSLWPKIRVPLKVVRTAEN", "down_seq": "LSNRFFPYDEIETEAVLAID", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.518.518", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 51, "end_pos": 51, "site_seq": "E", "up_seq": "SIVLLGLIATGMFQFWPHSI", "down_seq": "SSNDWNVEKRSIRDVPVVRL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.51.51", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 520, "end_pos": 520, "site_seq": "S", "up_seq": "SLWPKIRVPLKVVRTAENKL", "down_seq": "NRFFPYDEIETEAVLAIDDD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.520.520", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 522, "end_pos": 522, "site_seq": "R", "up_seq": "WPKIRVPLKVVRTAENKLSN", "down_seq": "FFPYDEIETEAVLAIDDDII", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.522.522", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 523, "end_pos": 523, "site_seq": "F", "up_seq": "PKIRVPLKVVRTAENKLSNR", "down_seq": "FPYDEIETEAVLAIDDDIIM", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.523.523", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 525, "end_pos": 525, "site_seq": "P", "up_seq": "IRVPLKVVRTAENKLSNRFF", "down_seq": "YDEIETEAVLAIDDDIIMLT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.525.525", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 526, "end_pos": 526, "site_seq": "Y", "up_seq": "RVPLKVVRTAENKLSNRFFP", "down_seq": "DEIETEAVLAIDDDIIMLTS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.526.526", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 527, "end_pos": 527, "site_seq": "D", "up_seq": "VPLKVVRTAENKLSNRFFPY", "down_seq": "EIETEAVLAIDDDIIMLTSD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.527.527", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 528, "end_pos": 528, "site_seq": "E", "up_seq": "PLKVVRTAENKLSNRFFPYD", "down_seq": "IETEAVLAIDDDIIMLTSDE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.528.528", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 52, "end_pos": 52, "site_seq": "S", "up_seq": "IVLLGLIATGMFQFWPHSIE", "down_seq": "SNDWNVEKRSIRDVPVVRLP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.52.52", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 530, "end_pos": 530, "site_seq": "E", "up_seq": "KVVRTAENKLSNRFFPYDEI", "down_seq": "TEAVLAIDDDIIMLTSDELQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.530.530", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 531, "end_pos": 531, "site_seq": "T", "up_seq": "VVRTAENKLSNRFFPYDEIE", "down_seq": "EAVLAIDDDIIMLTSDELQF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.531.531", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 532, "end_pos": 532, "site_seq": "E", "up_seq": "VRTAENKLSNRFFPYDEIET", "down_seq": "AVLAIDDDIIMLTSDELQFG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.532.532", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 533, "end_pos": 533, "site_seq": "A", "up_seq": "RTAENKLSNRFFPYDEIETE", "down_seq": "VLAIDDDIIMLTSDELQFGY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.533.533", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 534, "end_pos": 534, "site_seq": "V", "up_seq": "TAENKLSNRFFPYDEIETEA", "down_seq": "LAIDDDIIMLTSDELQFGYE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.534.534", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 536, "end_pos": 536, "site_seq": "A", "up_seq": "ENKLSNRFFPYDEIETEAVL", "down_seq": "IDDDIIMLTSDELQFGYEVW", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.536.536", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 537, "end_pos": 537, "site_seq": "I", "up_seq": "NKLSNRFFPYDEIETEAVLA", "down_seq": "DDDIIMLTSDELQFGYEVWR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.537.537", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 539, "end_pos": 539, "site_seq": "D", "up_seq": "LSNRFFPYDEIETEAVLAID", "down_seq": "DIIMLTSDELQFGYEVWREF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.539.539", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 53, "end_pos": 53, "site_seq": "S", "up_seq": "VLLGLIATGMFQFWPHSIES", "down_seq": "NDWNVEKRSIRDVPVVRLPA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.53.53", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 541, "end_pos": 541, "site_seq": "I", "up_seq": "NRFFPYDEIETEAVLAIDDD", "down_seq": "IMLTSDELQFGYEVWREFPD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.541.541", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 542, "end_pos": 542, "site_seq": "I", "up_seq": "RFFPYDEIETEAVLAIDDDI", "down_seq": "MLTSDELQFGYEVWREFPDR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.542.542", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 543, "end_pos": 543, "site_seq": "M", "up_seq": "FFPYDEIETEAVLAIDDDII", "down_seq": "LTSDELQFGYEVWREFPDRL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.543.543", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 545, "end_pos": 545, "site_seq": "T", "up_seq": "PYDEIETEAVLAIDDDIIML", "down_seq": "SDELQFGYEVWREFPDRLVG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.545.545", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 547, "end_pos": 547, "site_seq": "D", "up_seq": "DEIETEAVLAIDDDIIMLTS", "down_seq": "ELQFGYEVWREFPDRLVGYP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.547.547", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 548, "end_pos": 548, "site_seq": "E", "up_seq": "EIETEAVLAIDDDIIMLTSD", "down_seq": "LQFGYEVWREFPDRLVGYPG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.548.548", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 549, "end_pos": 549, "site_seq": "L", "up_seq": "IETEAVLAIDDDIIMLTSDE", "down_seq": "QFGYEVWREFPDRLVGYPGR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.549.549", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 552, "end_pos": 552, "site_seq": "G", "up_seq": "EAVLAIDDDIIMLTSDELQF", "down_seq": "YEVWREFPDRLVGYPGRLHL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.552.552", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 553, "end_pos": 553, "site_seq": "Y", "up_seq": "AVLAIDDDIIMLTSDELQFG", "down_seq": "EVWREFPDRLVGYPGRLHLW", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.553.553", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 554, "end_pos": 554, "site_seq": "E", "up_seq": "VLAIDDDIIMLTSDELQFGY", "down_seq": "VWREFPDRLVGYPGRLHLWD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.554.554", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 555, "end_pos": 555, "site_seq": "V", "up_seq": "LAIDDDIIMLTSDELQFGYE", "down_seq": "WREFPDRLVGYPGRLHLWDH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.555.555", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 556, "end_pos": 556, "site_seq": "W", "up_seq": "AIDDDIIMLTSDELQFGYEV", "down_seq": "REFPDRLVGYPGRLHLWDHE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.556.556", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 557, "end_pos": 557, "site_seq": "R", "up_seq": "IDDDIIMLTSDELQFGYEVW", "down_seq": "EFPDRLVGYPGRLHLWDHEM", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.557.557", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 559, "end_pos": 559, "site_seq": "F", "up_seq": "DDIIMLTSDELQFGYEVWRE", "down_seq": "PDRLVGYPGRLHLWDHEMNK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.559.559", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 560, "end_pos": 560, "site_seq": "P", "up_seq": "DIIMLTSDELQFGYEVWREF", "down_seq": "DRLVGYPGRLHLWDHEMNKW", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.560.560", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 561, "end_pos": 561, "site_seq": "D", "up_seq": "IIMLTSDELQFGYEVWREFP", "down_seq": "RLVGYPGRLHLWDHEMNKWK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.561.561", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 562, "end_pos": 562, "site_seq": "R", "up_seq": "IMLTSDELQFGYEVWREFPD", "down_seq": "LVGYPGRLHLWDHEMNKWKY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.562.562", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 563, "end_pos": 563, "site_seq": "L", "up_seq": "MLTSDELQFGYEVWREFPDR", "down_seq": "VGYPGRLHLWDHEMNKWKYE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.563.563", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 564, "end_pos": 564, "site_seq": "V", "up_seq": "LTSDELQFGYEVWREFPDRL", "down_seq": "GYPGRLHLWDHEMNKWKYES", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.564.564", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 565, "end_pos": 565, "site_seq": "G", "up_seq": "TSDELQFGYEVWREFPDRLV", "down_seq": "YPGRLHLWDHEMNKWKYESE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.565.565", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 566, "end_pos": 566, "site_seq": "Y", "up_seq": "SDELQFGYEVWREFPDRLVG", "down_seq": "PGRLHLWDHEMNKWKYESEW", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.566.566", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 567, "end_pos": 567, "site_seq": "P", "up_seq": "DELQFGYEVWREFPDRLVGY", "down_seq": "GRLHLWDHEMNKWKYESEWT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.567.567", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 568, "end_pos": 568, "site_seq": "G", "up_seq": "ELQFGYEVWREFPDRLVGYP", "down_seq": "RLHLWDHEMNKWKYESEWTN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.568.568", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 570, "end_pos": 570, "site_seq": "L", "up_seq": "QFGYEVWREFPDRLVGYPGR", "down_seq": "HLWDHEMNKWKYESEWTNEV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.570.570", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 571, "end_pos": 571, "site_seq": "H", "up_seq": "FGYEVWREFPDRLVGYPGRL", "down_seq": "LWDHEMNKWKYESEWTNEVS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.571.571", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 573, "end_pos": 573, "site_seq": "W", "up_seq": "YEVWREFPDRLVGYPGRLHL", "down_seq": "DHEMNKWKYESEWTNEVSMV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.573.573", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 575, "end_pos": 575, "site_seq": "H", "up_seq": "VWREFPDRLVGYPGRLHLWD", "down_seq": "EMNKWKYESEWTNEVSMVLT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.575.575", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 576, "end_pos": 576, "site_seq": "E", "up_seq": "WREFPDRLVGYPGRLHLWDH", "down_seq": "MNKWKYESEWTNEVSMVLTG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.576.576", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 577, "end_pos": 577, "site_seq": "M", "up_seq": "REFPDRLVGYPGRLHLWDHE", "down_seq": "NKWKYESEWTNEVSMVLTGA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.577.577", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 578, "end_pos": 578, "site_seq": "N", "up_seq": "EFPDRLVGYPGRLHLWDHEM", "down_seq": "KWKYESEWTNEVSMVLTGAA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.578.578", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 57, "end_pos": 57, "site_seq": "N", "up_seq": "LIATGMFQFWPHSIESSNDW", "down_seq": "VEKRSIRDVPVVRLPADSPI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.57.57", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 581, "end_pos": 581, "site_seq": "K", "up_seq": "DRLVGYPGRLHLWDHEMNKW", "down_seq": "YESEWTNEVSMVLTGAAFYH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.581.581", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 582, "end_pos": 582, "site_seq": "Y", "up_seq": "RLVGYPGRLHLWDHEMNKWK", "down_seq": "ESEWTNEVSMVLTGAAFYHK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.582.582", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 586, "end_pos": 586, "site_seq": "W", "up_seq": "YPGRLHLWDHEMNKWKYESE", "down_seq": "TNEVSMVLTGAAFYHKYFNY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.586.586", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 587, "end_pos": 587, "site_seq": "T", "up_seq": "PGRLHLWDHEMNKWKYESEW", "down_seq": "NEVSMVLTGAAFYHKYFNYL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.587.587", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 589, "end_pos": 589, "site_seq": "E", "up_seq": "RLHLWDHEMNKWKYESEWTN", "down_seq": "VSMVLTGAAFYHKYFNYLYT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.589.589", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 58, "end_pos": 58, "site_seq": "V", "up_seq": "IATGMFQFWPHSIESSNDWN", "down_seq": "EKRSIRDVPVVRLPADSPIP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.58.58", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 591, "end_pos": 591, "site_seq": "S", "up_seq": "HLWDHEMNKWKYESEWTNEV", "down_seq": "MVLTGAAFYHKYFNYLYTYK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.591.591", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 592, "end_pos": 592, "site_seq": "M", "up_seq": "LWDHEMNKWKYESEWTNEVS", "down_seq": "VLTGAAFYHKYFNYLYTYKM", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.592.592", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 593, "end_pos": 593, "site_seq": "V", "up_seq": "WDHEMNKWKYESEWTNEVSM", "down_seq": "LTGAAFYHKYFNYLYTYKMP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.593.593", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 594, "end_pos": 594, "site_seq": "L", "up_seq": "DHEMNKWKYESEWTNEVSMV", "down_seq": "TGAAFYHKYFNYLYTYKMPG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.594.594", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 596, "end_pos": 596, "site_seq": "G", "up_seq": "EMNKWKYESEWTNEVSMVLT", "down_seq": "AAFYHKYFNYLYTYKMPGDI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.596.596", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 597, "end_pos": 597, "site_seq": "A", "up_seq": "MNKWKYESEWTNEVSMVLTG", "down_seq": "AFYHKYFNYLYTYKMPGDIK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.597.597", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 598, "end_pos": 598, "site_seq": "A", "up_seq": "NKWKYESEWTNEVSMVLTGA", "down_seq": "FYHKYFNYLYTYKMPGDIKN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.598.598", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 59, "end_pos": 59, "site_seq": "E", "up_seq": "ATGMFQFWPHSIESSNDWNV", "down_seq": "KRSIRDVPVVRLPADSPIPE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.59.59", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 5, "end_pos": 5, "site_seq": "V", "up_seq": "MCAS", "down_seq": "KYNIRGPALIPRMKTKHRIY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.5.5", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 600, "end_pos": 600, "site_seq": "Y", "up_seq": "WKYESEWTNEVSMVLTGAAF", "down_seq": "HKYFNYLYTYKMPGDIKNWV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.600.600", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 601, "end_pos": 601, "site_seq": "H", "up_seq": "KYESEWTNEVSMVLTGAAFY", "down_seq": "KYFNYLYTYKMPGDIKNWVD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.601.601", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 602, "end_pos": 602, "site_seq": "K", "up_seq": "YESEWTNEVSMVLTGAAFYH", "down_seq": "YFNYLYTYKMPGDIKNWVDA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.602.602", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 603, "end_pos": 603, "site_seq": "Y", "up_seq": "ESEWTNEVSMVLTGAAFYHK", "down_seq": "FNYLYTYKMPGDIKNWVDAH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.603.603", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 604, "end_pos": 604, "site_seq": "F", "up_seq": "SEWTNEVSMVLTGAAFYHKY", "down_seq": "NYLYTYKMPGDIKNWVDAHM", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.604.604", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 605, "end_pos": 605, "site_seq": "N", "up_seq": "EWTNEVSMVLTGAAFYHKYF", "down_seq": "YLYTYKMPGDIKNWVDAHMN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.605.605", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 606, "end_pos": 606, "site_seq": "Y", "up_seq": "WTNEVSMVLTGAAFYHKYFN", "down_seq": "LYTYKMPGDIKNWVDAHMNC", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.606.606", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 607, "end_pos": 607, "site_seq": "L", "up_seq": "TNEVSMVLTGAAFYHKYFNY", "down_seq": "YTYKMPGDIKNWVDAHMNCE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.607.607", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 608, "end_pos": 608, "site_seq": "Y", "up_seq": "NEVSMVLTGAAFYHKYFNYL", "down_seq": "TYKMPGDIKNWVDAHMNCED", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.608.608", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 609, "end_pos": 609, "site_seq": "T", "up_seq": "EVSMVLTGAAFYHKYFNYLY", "down_seq": "YKMPGDIKNWVDAHMNCEDI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.609.609", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 610, "end_pos": 610, "site_seq": "Y", "up_seq": "VSMVLTGAAFYHKYFNYLYT", "down_seq": "KMPGDIKNWVDAHMNCEDIA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.610.610", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 611, "end_pos": 611, "site_seq": "K", "up_seq": "SMVLTGAAFYHKYFNYLYTY", "down_seq": "MPGDIKNWVDAHMNCEDIAM", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.611.611", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 612, "end_pos": 612, "site_seq": "M", "up_seq": "MVLTGAAFYHKYFNYLYTYK", "down_seq": "PGDIKNWVDAHMNCEDIAMN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.612.612", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 613, "end_pos": 613, "site_seq": "P", "up_seq": "VLTGAAFYHKYFNYLYTYKM", "down_seq": "GDIKNWVDAHMNCEDIAMNF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.613.613", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 614, "end_pos": 614, "site_seq": "G", "up_seq": "LTGAAFYHKYFNYLYTYKMP", "down_seq": "DIKNWVDAHMNCEDIAMNFL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.614.614", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 615, "end_pos": 615, "site_seq": "D", "up_seq": "TGAAFYHKYFNYLYTYKMPG", "down_seq": "IKNWVDAHMNCEDIAMNFLV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.615.615", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 618, "end_pos": 618, "site_seq": "N", "up_seq": "AFYHKYFNYLYTYKMPGDIK", "down_seq": "WVDAHMNCEDIAMNFLVANV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.618.618", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 619, "end_pos": 619, "site_seq": "W", "up_seq": "FYHKYFNYLYTYKMPGDIKN", "down_seq": "VDAHMNCEDIAMNFLVANVT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.619.619", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 61, "end_pos": 61, "site_seq": "R", "up_seq": "GMFQFWPHSIESSNDWNVEK", "down_seq": "SIRDVPVVRLPADSPIPERG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.61.61", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 620, "end_pos": 620, "site_seq": "V", "up_seq": "YHKYFNYLYTYKMPGDIKNW", "down_seq": "DAHMNCEDIAMNFLVANVTG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.620.620", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 622, "end_pos": 622, "site_seq": "A", "up_seq": "KYFNYLYTYKMPGDIKNWVD", "down_seq": "HMNCEDIAMNFLVANVTGKA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.622.622", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 623, "end_pos": 623, "site_seq": "H", "up_seq": "YFNYLYTYKMPGDIKNWVDA", "down_seq": "MNCEDIAMNFLVANVTGKAV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.623.623", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 624, "end_pos": 624, "site_seq": "M", "up_seq": "FNYLYTYKMPGDIKNWVDAH", "down_seq": "NCEDIAMNFLVANVTGKAVI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.624.624", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 626, "end_pos": 626, "site_seq": "C", "up_seq": "YLYTYKMPGDIKNWVDAHMN", "down_seq": "EDIAMNFLVANVTGKAVIKV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.626.626", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 628, "end_pos": 628, "site_seq": "D", "up_seq": "YTYKMPGDIKNWVDAHMNCE", "down_seq": "IAMNFLVANVTGKAVIKVTP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.628.628", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 629, "end_pos": 629, "site_seq": "I", "up_seq": "TYKMPGDIKNWVDAHMNCED", "down_seq": "AMNFLVANVTGKAVIKVTPR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.629.629", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 62, "end_pos": 62, "site_seq": "S", "up_seq": "MFQFWPHSIESSNDWNVEKR", "down_seq": "IRDVPVVRLPADSPIPERGD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.62.62", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 630, "end_pos": 630, "site_seq": "A", "up_seq": "YKMPGDIKNWVDAHMNCEDI", "down_seq": "MNFLVANVTGKAVIKVTPRK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.630.630", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 631, "end_pos": 631, "site_seq": "M", "up_seq": "KMPGDIKNWVDAHMNCEDIA", "down_seq": "NFLVANVTGKAVIKVTPRKK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.631.631", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 632, "end_pos": 632, "site_seq": "N", "up_seq": "MPGDIKNWVDAHMNCEDIAM", "down_seq": "FLVANVTGKAVIKVTPRKKF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.632.632", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 633, "end_pos": 633, "site_seq": "F", "up_seq": "PGDIKNWVDAHMNCEDIAMN", "down_seq": "LVANVTGKAVIKVTPRKKFK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.633.633", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 634, "end_pos": 634, "site_seq": "L", "up_seq": "GDIKNWVDAHMNCEDIAMNF", "down_seq": "VANVTGKAVIKVTPRKKFKC", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.634.634", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 635, "end_pos": 635, "site_seq": "V", "up_seq": "DIKNWVDAHMNCEDIAMNFL", "down_seq": "ANVTGKAVIKVTPRKKFKCP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.635.635", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 636, "end_pos": 636, "site_seq": "A", "up_seq": "IKNWVDAHMNCEDIAMNFLV", "down_seq": "NVTGKAVIKVTPRKKFKCPE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.636.636", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 638, "end_pos": 638, "site_seq": "V", "up_seq": "NWVDAHMNCEDIAMNFLVAN", "down_seq": "TGKAVIKVTPRKKFKCPECT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.638.638", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 63, "end_pos": 63, "site_seq": "I", "up_seq": "FQFWPHSIESSNDWNVEKRS", "down_seq": "RDVPVVRLPADSPIPERGDL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.63.63", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 640, "end_pos": 640, "site_seq": "G", "up_seq": "VDAHMNCEDIAMNFLVANVT", "down_seq": "KAVIKVTPRKKFKCPECTAI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.640.640", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 641, "end_pos": 641, "site_seq": "K", "up_seq": "DAHMNCEDIAMNFLVANVTG", "down_seq": "AVIKVTPRKKFKCPECTAID", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.641.641", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 642, "end_pos": 642, "site_seq": "A", "up_seq": "AHMNCEDIAMNFLVANVTGK", "down_seq": "VIKVTPRKKFKCPECTAIDG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.642.642", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 644, "end_pos": 644, "site_seq": "I", "up_seq": "MNCEDIAMNFLVANVTGKAV", "down_seq": "KVTPRKKFKCPECTAIDGLS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.644.644", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 647, "end_pos": 647, "site_seq": "T", "up_seq": "EDIAMNFLVANVTGKAVIKV", "down_seq": "PRKKFKCPECTAIDGLSLDQ", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.647.647", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 649, "end_pos": 649, "site_seq": "R", "up_seq": "IAMNFLVANVTGKAVIKVTP", "down_seq": "KKFKCPECTAIDGLSLDQTH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.649.649", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 64, "end_pos": 64, "site_seq": "R", "up_seq": "QFWPHSIESSNDWNVEKRSI", "down_seq": "DVPVVRLPADSPIPERGDLS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.64.64", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 650, "end_pos": 650, "site_seq": "K", "up_seq": "AMNFLVANVTGKAVIKVTPR", "down_seq": "KFKCPECTAIDGLSLDQTHM", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.650.650", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 653, "end_pos": 653, "site_seq": "K", "up_seq": "FLVANVTGKAVIKVTPRKKF", "down_seq": "CPECTAIDGLSLDQTHMVER", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.653.653", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 656, "end_pos": 656, "site_seq": "E", "up_seq": "ANVTGKAVIKVTPRKKFKCP", "down_seq": "CTAIDGLSLDQTHMVERSEC", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.656.656", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 658, "end_pos": 658, "site_seq": "T", "up_seq": "VTGKAVIKVTPRKKFKCPEC", "down_seq": "AIDGLSLDQTHMVERSECIN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.658.658", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 659, "end_pos": 659, "site_seq": "A", "up_seq": "TGKAVIKVTPRKKFKCPECT", "down_seq": "IDGLSLDQTHMVERSECINK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.659.659", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 660, "end_pos": 660, "site_seq": "I", "up_seq": "GKAVIKVTPRKKFKCPECTA", "down_seq": "DGLSLDQTHMVERSECINKF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.660.660", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 661, "end_pos": 661, "site_seq": "D", "up_seq": "KAVIKVTPRKKFKCPECTAI", "down_seq": "GLSLDQTHMVERSECINKFA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.661.661", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 662, "end_pos": 662, "site_seq": "G", "up_seq": "AVIKVTPRKKFKCPECTAID", "down_seq": "LSLDQTHMVERSECINKFAS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.662.662", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 663, "end_pos": 663, "site_seq": "L", "up_seq": "VIKVTPRKKFKCPECTAIDG", "down_seq": "SLDQTHMVERSECINKFASV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.663.663", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 664, "end_pos": 664, "site_seq": "S", "up_seq": "IKVTPRKKFKCPECTAIDGL", "down_seq": "LDQTHMVERSECINKFASVF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.664.664", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 666, "end_pos": 666, "site_seq": "D", "up_seq": "VTPRKKFKCPECTAIDGLSL", "down_seq": "QTHMVERSECINKFASVFGT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.666.666", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 667, "end_pos": 667, "site_seq": "Q", "up_seq": "TPRKKFKCPECTAIDGLSLD", "down_seq": "THMVERSECINKFASVFGTM", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.667.667", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 668, "end_pos": 668, "site_seq": "T", "up_seq": "PRKKFKCPECTAIDGLSLDQ", "down_seq": "HMVERSECINKFASVFGTMP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.668.668", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 669, "end_pos": 669, "site_seq": "H", "up_seq": "RKKFKCPECTAIDGLSLDQT", "down_seq": "MVERSECINKFASVFGTMPL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.669.669", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 66, "end_pos": 66, "site_seq": "V", "up_seq": "WPHSIESSNDWNVEKRSIRD", "down_seq": "PVVRLPADSPIPERGDLSCR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.66.66", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 671, "end_pos": 671, "site_seq": "V", "up_seq": "KFKCPECTAIDGLSLDQTHM", "down_seq": "ERSECINKFASVFGTMPLKV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.671.671", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 675, "end_pos": 675, "site_seq": "E", "up_seq": "PECTAIDGLSLDQTHMVERS", "down_seq": "CINKFASVFGTMPLKVVEHR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.675.675", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 676, "end_pos": 676, "site_seq": "C", "up_seq": "ECTAIDGLSLDQTHMVERSE", "down_seq": "INKFASVFGTMPLKVVEHRA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.676.676", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 678, "end_pos": 678, "site_seq": "N", "up_seq": "TAIDGLSLDQTHMVERSECI", "down_seq": "KFASVFGTMPLKVVEHRADP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.678.678", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 679, "end_pos": 679, "site_seq": "K", "up_seq": "AIDGLSLDQTHMVERSECIN", "down_seq": "FASVFGTMPLKVVEHRADPV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.679.679", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 67, "end_pos": 67, "site_seq": "P", "up_seq": "PHSIESSNDWNVEKRSIRDV", "down_seq": "VVRLPADSPIPERGDLSCRM", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.67.67", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 680, "end_pos": 680, "site_seq": "F", "up_seq": "IDGLSLDQTHMVERSECINK", "down_seq": "ASVFGTMPLKVVEHRADPVL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.680.680", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 681, "end_pos": 681, "site_seq": "A", "up_seq": "DGLSLDQTHMVERSECINKF", "down_seq": "SVFGTMPLKVVEHRADPVLY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.681.681", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 683, "end_pos": 683, "site_seq": "V", "up_seq": "LSLDQTHMVERSECINKFAS", "down_seq": "FGTMPLKVVEHRADPVLYKD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.683.683", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 684, "end_pos": 684, "site_seq": "F", "up_seq": "SLDQTHMVERSECINKFASV", "down_seq": "GTMPLKVVEHRADPVLYKDD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.684.684", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 685, "end_pos": 685, "site_seq": "G", "up_seq": "LDQTHMVERSECINKFASVF", "down_seq": "TMPLKVVEHRADPVLYKDDF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.685.685", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 686, "end_pos": 686, "site_seq": "T", "up_seq": "DQTHMVERSECINKFASVFG", "down_seq": "MPLKVVEHRADPVLYKDDFP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.686.686", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 688, "end_pos": 688, "site_seq": "P", "up_seq": "THMVERSECINKFASVFGTM", "down_seq": "LKVVEHRADPVLYKDDFPEK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.688.688", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 689, "end_pos": 689, "site_seq": "L", "up_seq": "HMVERSECINKFASVFGTMP", "down_seq": "KVVEHRADPVLYKDDFPEKL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.689.689", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 68, "end_pos": 68, "site_seq": "V", "up_seq": "HSIESSNDWNVEKRSIRDVP", "down_seq": "VRLPADSPIPERGDLSCRMH", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.68.68", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 690, "end_pos": 690, "site_seq": "K", "up_seq": "MVERSECINKFASVFGTMPL", "down_seq": "VVEHRADPVLYKDDFPEKLK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.690.690", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 691, "end_pos": 691, "site_seq": "V", "up_seq": "VERSECINKFASVFGTMPLK", "down_seq": "VEHRADPVLYKDDFPEKLKS", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.691.691", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 693, "end_pos": 693, "site_seq": "E", "up_seq": "RSECINKFASVFGTMPLKVV", "down_seq": "HRADPVLYKDDFPEKLKSFP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.693.693", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 694, "end_pos": 694, "site_seq": "H", "up_seq": "SECINKFASVFGTMPLKVVE", "down_seq": "RADPVLYKDDFPEKLKSFPN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.694.694", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 695, "end_pos": 695, "site_seq": "R", "up_seq": "ECINKFASVFGTMPLKVVEH", "down_seq": "ADPVLYKDDFPEKLKSFPNI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.695.695", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 696, "end_pos": 696, "site_seq": "A", "up_seq": "CINKFASVFGTMPLKVVEHR", "down_seq": "DPVLYKDDFPEKLKSFPNIG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.696.696", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 698, "end_pos": 698, "site_seq": "P", "up_seq": "NKFASVFGTMPLKVVEHRAD", "down_seq": "VLYKDDFPEKLKSFPNIGSL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.698.698", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 699, "end_pos": 699, "site_seq": "V", "up_seq": "KFASVFGTMPLKVVEHRADP", "down_seq": "LYKDDFPEKLKSFPNIGSL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.699.699", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 69, "end_pos": 69, "site_seq": "V", "up_seq": "SIESSNDWNVEKRSIRDVPV", "down_seq": "RLPADSPIPERGDLSCRMHT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.69.69", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 703, "end_pos": 703, "site_seq": "D", "up_seq": "VFGTMPLKVVEHRADPVLYK", "down_seq": "DFPEKLKSFPNIGSL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.703.703", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 704, "end_pos": 704, "site_seq": "D", "up_seq": "FGTMPLKVVEHRADPVLYKD", "down_seq": "FPEKLKSFPNIGSL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.704.704", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 706, "end_pos": 706, "site_seq": "P", "up_seq": "TMPLKVVEHRADPVLYKDDF", "down_seq": "EKLKSFPNIGSL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.706.706", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 707, "end_pos": 707, "site_seq": "E", "up_seq": "MPLKVVEHRADPVLYKDDFP", "down_seq": "KLKSFPNIGSL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.707.707", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 708, "end_pos": 708, "site_seq": "K", "up_seq": "PLKVVEHRADPVLYKDDFPE", "down_seq": "LKSFPNIGSL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.708.708", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 709, "end_pos": 709, "site_seq": "L", "up_seq": "LKVVEHRADPVLYKDDFPEK", "down_seq": "KSFPNIGSL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.709.709", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 70, "end_pos": 70, "site_seq": "R", "up_seq": "IESSNDWNVEKRSIRDVPVV", "down_seq": "LPADSPIPERGDLSCRMHTC", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.70.70", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 710, "end_pos": 710, "site_seq": "K", "up_seq": "KVVEHRADPVLYKDDFPEKL", "down_seq": "SFPNIGSL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.710.710", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 711, "end_pos": 711, "site_seq": "S", "up_seq": "VVEHRADPVLYKDDFPEKLK", "down_seq": "FPNIGSL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.711.711", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 713, "end_pos": 713, "site_seq": "P", "up_seq": "EHRADPVLYKDDFPEKLKSF", "down_seq": "NIGSL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.713.713", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 715, "end_pos": 715, "site_seq": "I", "up_seq": "RADPVLYKDDFPEKLKSFPN", "down_seq": "GSL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.715.715", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 717, "end_pos": 717, "site_seq": "S", "up_seq": "DPVLYKDDFPEKLKSFPNIG", "down_seq": "", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.717.717", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 71, "end_pos": 71, "site_seq": "L", "up_seq": "ESSNDWNVEKRSIRDVPVVR", "down_seq": "PADSPIPERGDLSCRMHTCF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.71.71", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 72, "end_pos": 72, "site_seq": "P", "up_seq": "SSNDWNVEKRSIRDVPVVRL", "down_seq": "ADSPIPERGDLSCRMHTCFD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.72.72", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 73, "end_pos": 73, "site_seq": "A", "up_seq": "SNDWNVEKRSIRDVPVVRLP", "down_seq": "DSPIPERGDLSCRMHTCFDV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.73.73", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 74, "end_pos": 74, "site_seq": "D", "up_seq": "NDWNVEKRSIRDVPVVRLPA", "down_seq": "SPIPERGDLSCRMHTCFDVY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.74.74", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 75, "end_pos": 75, "site_seq": "S", "up_seq": "DWNVEKRSIRDVPVVRLPAD", "down_seq": "PIPERGDLSCRMHTCFDVYR", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.75.75", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 76, "end_pos": 76, "site_seq": "P", "up_seq": "WNVEKRSIRDVPVVRLPADS", "down_seq": "IPERGDLSCRMHTCFDVYRC", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.76.76", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 78, "end_pos": 78, "site_seq": "P", "up_seq": "VEKRSIRDVPVVRLPADSPI", "down_seq": "ERGDLSCRMHTCFDVYRCGF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.78.78", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 79, "end_pos": 79, "site_seq": "E", "up_seq": "EKRSIRDVPVVRLPADSPIP", "down_seq": "RGDLSCRMHTCFDVYRCGFN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.79.79", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 7, "end_pos": 7, "site_seq": "Y", "up_seq": "MCASVK", "down_seq": "NIRGPALIPRMKTKHRIYYI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.7.7", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 80, "end_pos": 80, "site_seq": "R", "up_seq": "KRSIRDVPVVRLPADSPIPE", "down_seq": "GDLSCRMHTCFDVYRCGFNP", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.80.80", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 81, "end_pos": 81, "site_seq": "G", "up_seq": "RSIRDVPVVRLPADSPIPER", "down_seq": "DLSCRMHTCFDVYRCGFNPK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.81.81", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 82, "end_pos": 82, "site_seq": "D", "up_seq": "SIRDVPVVRLPADSPIPERG", "down_seq": "LSCRMHTCFDVYRCGFNPKN", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.82.82", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 83, "end_pos": 83, "site_seq": "L", "up_seq": "IRDVPVVRLPADSPIPERGD", "down_seq": "SCRMHTCFDVYRCGFNPKNK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.83.83", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 84, "end_pos": 84, "site_seq": "S", "up_seq": "RDVPVVRLPADSPIPERGDL", "down_seq": "CRMHTCFDVYRCGFNPKNKI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.84.84", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 85, "end_pos": 85, "site_seq": "C", "up_seq": "DVPVVRLPADSPIPERGDLS", "down_seq": "RMHTCFDVYRCGFNPKNKIK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.85.85", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 86, "end_pos": 86, "site_seq": "R", "up_seq": "VPVVRLPADSPIPERGDLSC", "down_seq": "MHTCFDVYRCGFNPKNKIKV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.86.86", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 87, "end_pos": 87, "site_seq": "M", "up_seq": "PVVRLPADSPIPERGDLSCR", "down_seq": "HTCFDVYRCGFNPKNKIKVY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.87.87", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 88, "end_pos": 88, "site_seq": "H", "up_seq": "VVRLPADSPIPERGDLSCRM", "down_seq": "TCFDVYRCGFNPKNKIKVYI", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.88.88", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 89, "end_pos": 89, "site_seq": "T", "up_seq": "VRLPADSPIPERGDLSCRMH", "down_seq": "CFDVYRCGFNPKNKIKVYIY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.89.89", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 8, "end_pos": 8, "site_seq": "N", "up_seq": "MCASVKY", "down_seq": "IRGPALIPRMKTKHRIYYIT", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.8.8", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 90, "end_pos": 90, "site_seq": "C", "up_seq": "RLPADSPIPERGDLSCRMHT", "down_seq": "FDVYRCGFNPKNKIKVYIYA", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.90.90", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 92, "end_pos": 92, "site_seq": "D", "up_seq": "PADSPIPERGDLSCRMHTCF", "down_seq": "VYRCGFNPKNKIKVYIYALK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline;somatic", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.92.92", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 93, "end_pos": 93, "site_seq": "V", "up_seq": "ADSPIPERGDLSCRMHTCFD", "down_seq": "YRCGFNPKNKIKVYIYALKK", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.93.93", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 94, "end_pos": 94, "site_seq": "Y", "up_seq": "DSPIPERGDLSCRMHTCFDV", "down_seq": "RCGFNPKNKIKVYIYALKKY", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.94.94", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 95, "end_pos": 95, "site_seq": "R", "up_seq": "SPIPERGDLSCRMHTCFDVY", "down_seq": "CGFNPKNKIKVYIYALKKYV", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 4, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.95.95", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 96, "end_pos": 96, "site_seq": "C", "up_seq": "PIPERGDLSCRMHTCFDVYR", "down_seq": "GFNPKNKIKVYIYALKKYVD", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "somatic;germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.96.96", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 98, "end_pos": 98, "site_seq": "F", "up_seq": "PERGDLSCRMHTCFDVYRCG", "down_seq": "NPKNKIKVYIYALKKYVDDF", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.98.98", "record_type": "site" }, { "uniprot_canonical_ac": "Q93063-1", "uniprot_id": "EXT2_HUMAN", "protein_name": "Exostosin-2", "length": 718, "refseq_ac": "NP_000392", "refseq_name": "exostosin-2 isoform 1", "gene_name": "EXT2", "gene_names_uniprotkb": "EXT2", "gene_names_refseq": "EXT2; SOTV; SSMS", "start_pos": 99, "end_pos": 99, "site_seq": "N", "up_seq": "ERGDLSCRMHTCFDVYRCGF", "down_seq": "PKNKIKVYIYALKKYVDDFG", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q93063-1.99.99", "record_type": "site" }, { "uniprot_canonical_ac": "Q96HZ4-1", "uniprot_id": "HES6_HUMAN", "protein_name": "Transcription cofactor HES-6", "length": 224, "refseq_ac": "NP_001136325", "refseq_name": "transcription cofactor HES-6 isoform b", "gene_name": "HES6", "gene_names_uniprotkb": "HES6; BHLHB41", "gene_names_refseq": "C-HAIRY1; HES-6; HES6; bHLHb41; bHLHc23", "start_pos": 183, "end_pos": 183, "site_seq": "S", "up_seq": "AGGAPGSPIPSPPGPGDDLC", "down_seq": "DLEEAPEAELSQAPAEGPDL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "no", "snv_count": 0, "phosphorylation": "yes", "phosphorylation_count": 1, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Ser", "glycosylation_type": "", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "Q96HZ4-1.183.183", "record_type": "site" }, { "uniprot_canonical_ac": "P42701-1", "uniprot_id": "I12R1_HUMAN", "protein_name": "Interleukin-12 receptor subunit beta-1", "length": 662, "refseq_ac": "NP_001276952", "refseq_name": "interleukin-12 receptor subunit beta-1 isoform 3 precursor", "gene_name": "IL12RB1", "gene_names_uniprotkb": "IL12RB1; IL12RB; IL12R", "gene_names_refseq": "CD212; IL-12R-BETA1; IL12RB1; IL12RB; IMD30", "start_pos": 121, "end_pos": 121, "site_seq": "N", "up_seq": "DQAGVSVLYTVTLWVESWAR", "down_seq": "QTEKSPEVTLQLYNSVKYEP", "glycosylation": "yes", "glycosylation_count": 1, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Asn", "glycosylation_type": "n-linked|other", "snv_type": "somatic", "glycoeffect": "n-glyco-sequon-loss", "missing_score": 10000, "n_glycosylation_count": 1, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": true, "tax_id": 9606, "organism": "Human", "hit_score": 0.2, "record_id": "P42701-1.121.121", "record_type": "site" }, { "uniprot_canonical_ac": "P42701-1", "uniprot_id": "I12R1_HUMAN", "protein_name": "Interleukin-12 receptor subunit beta-1", "length": 662, "refseq_ac": "NP_001276952", "refseq_name": "interleukin-12 receptor subunit beta-1 isoform 3 precursor", "gene_name": "IL12RB1", "gene_names_uniprotkb": "IL12RB1; IL12RB; IL12R", "gene_names_refseq": "CD212; IL-12R-BETA1; IL12RB1; IL12RB; IMD30", "start_pos": 329, "end_pos": 329, "site_seq": "N", "up_seq": "LSGAAYNVAVISSNQFGPGL", "down_seq": "QTWHIPADTHTEPVALNISV", "glycosylation": "yes", "glycosylation_count": 1, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "no", "snv_count": 0, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Asn", "glycosylation_type": "n-linked|other", "snv_type": "", "glycoeffect": "", "missing_score": 10000, "n_glycosylation_count": 1, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": true, "tax_id": 9606, "organism": "Human", "hit_score": 0.2, "record_id": "P42701-1.329.329", "record_type": "site" }, { "uniprot_canonical_ac": "P42701-1", "uniprot_id": "I12R1_HUMAN", "protein_name": "Interleukin-12 receptor subunit beta-1", "length": 662, "refseq_ac": "NP_001276952", "refseq_name": "interleukin-12 receptor subunit beta-1 isoform 3 precursor", "gene_name": "IL12RB1", "gene_names_uniprotkb": "IL12RB1; IL12RB; IL12R", "gene_names_refseq": "CD212; IL-12R-BETA1; IL12RB1; IL12RB; IMD30", "start_pos": 346, "end_pos": 346, "site_seq": "N", "up_seq": "PGLNQTWHIPADTHTEPVAL", "down_seq": "ISVGTNGTTMYWPARAQSMT", "glycosylation": "yes", "glycosylation_count": 1, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Asn", "glycosylation_type": "n-linked|other", "snv_type": "germline", "glycoeffect": "n-glyco-sequon-loss", "missing_score": 10000, "n_glycosylation_count": 1, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": true, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.2, "record_id": "P42701-1.346.346", "record_type": "site" }, { "uniprot_canonical_ac": "P42701-1", "uniprot_id": "I12R1_HUMAN", "protein_name": "Interleukin-12 receptor subunit beta-1", "length": 662, "refseq_ac": "NP_001276952", "refseq_name": "interleukin-12 receptor subunit beta-1 isoform 3 precursor", "gene_name": "IL12RB1", "gene_names_uniprotkb": "IL12RB1; IL12RB; IL12R", "gene_names_refseq": "CD212; IL-12R-BETA1; IL12RB1; IL12RB; IMD30", "start_pos": 352, "end_pos": 352, "site_seq": "N", "up_seq": "WHIPADTHTEPVALNISVGT", "down_seq": "GTTMYWPARAQSMTYCIEWQ", "glycosylation": "yes", "glycosylation_count": 1, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Asn", "glycosylation_type": "n-linked|other", "snv_type": "germline", "glycoeffect": "n-glyco-sequon-loss", "missing_score": 10000, "n_glycosylation_count": 1, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": true, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.2, "record_id": "P42701-1.352.352", "record_type": "site" }, { "uniprot_canonical_ac": "P42701-1", "uniprot_id": "I12R1_HUMAN", "protein_name": "Interleukin-12 receptor subunit beta-1", "length": 662, "refseq_ac": "NP_001276952", "refseq_name": "interleukin-12 receptor subunit beta-1 isoform 3 precursor", "gene_name": "IL12RB1", "gene_names_uniprotkb": "IL12RB1; IL12RB; IL12R", "gene_names_refseq": "CD212; IL-12R-BETA1; IL12RB1; IL12RB; IMD30", "start_pos": 442, "end_pos": 442, "site_seq": "N", "up_seq": "AHPEKLTLWSTVLSTYHFGG", "down_seq": "ASAAGTPHHVSVKNHSLDSV", "glycosylation": "yes", "glycosylation_count": 1, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Asn", "glycosylation_type": "n-linked|other", "snv_type": "germline", "glycoeffect": "n-glyco-sequon-loss", "missing_score": 10000, "n_glycosylation_count": 1, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": true, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.2, "record_id": "P42701-1.442.442", "record_type": "site" }, { "uniprot_canonical_ac": "P42701-1", "uniprot_id": "I12R1_HUMAN", "protein_name": "Interleukin-12 receptor subunit beta-1", "length": 662, "refseq_ac": "NP_001276952", "refseq_name": "interleukin-12 receptor subunit beta-1 isoform 3 precursor", "gene_name": "IL12RB1", "gene_names_uniprotkb": "IL12RB1; IL12RB; IL12R", "gene_names_refseq": "CD212; IL-12R-BETA1; IL12RB1; IL12RB; IMD30", "start_pos": 456, "end_pos": 456, "site_seq": "N", "up_seq": "TYHFGGNASAAGTPHHVSVK", "down_seq": "HSLDSVSVDWAPSLLSTCPG", "glycosylation": "yes", "glycosylation_count": 1, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Asn", "glycosylation_type": "n-linked|other", "snv_type": "germline", "glycoeffect": "n-glyco-sequon-loss", "missing_score": 10000, "n_glycosylation_count": 1, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": true, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.2, "record_id": "P42701-1.456.456", "record_type": "site" }, { "uniprot_canonical_ac": "P42701-1", "uniprot_id": "I12R1_HUMAN", "protein_name": "Interleukin-12 receptor subunit beta-1", "length": 662, "refseq_ac": "NP_001276952", "refseq_name": "interleukin-12 receptor subunit beta-1 isoform 3 precursor", "gene_name": "IL12RB1", "gene_names_uniprotkb": "IL12RB1; IL12RB; IL12R", "gene_names_refseq": "CD212; IL-12R-BETA1; IL12RB1; IL12RB; IMD30", "start_pos": 583, "end_pos": 583, "site_seq": "T", "up_seq": "GVLGYLGLNRAARHLCPPLP", "down_seq": "PCASSAIEFPGGKETWQWIN", "glycosylation": "yes", "glycosylation_count": 1, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 2, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Thr", "glycosylation_type": "o-linked|other", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 1, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": true, "tax_id": 9606, "organism": "Human", "hit_score": 0.2, "record_id": "P42701-1.583.583", "record_type": "site" }, { "uniprot_canonical_ac": "P42701-1", "uniprot_id": "I12R1_HUMAN", "protein_name": "Interleukin-12 receptor subunit beta-1", "length": 662, "refseq_ac": "NP_001276952", "refseq_name": "interleukin-12 receptor subunit beta-1 isoform 3 precursor", "gene_name": "IL12RB1", "gene_names_uniprotkb": "IL12RB1; IL12RB; IL12R", "gene_names_refseq": "CD212; IL-12R-BETA1; IL12RB1; IL12RB; IMD30", "start_pos": 70, "end_pos": 70, "site_seq": "T", "up_seq": "LRCYRISSDRYECSWQYEGP", "down_seq": "AGVSHFLRCCLSSGRCCYFA", "glycosylation": "yes", "glycosylation_count": 1, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "Thr", "glycosylation_type": "o-linked|other", "snv_type": "germline", "glycoeffect": "o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 1, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": true, "tax_id": 9606, "organism": "Human", "hit_score": 0.2, "record_id": "P42701-1.70.70", "record_type": "site" }, { "uniprot_canonical_ac": "P42701-1", "uniprot_id": "I12R1_HUMAN", "protein_name": "Interleukin-12 receptor subunit beta-1", "length": 662, "refseq_ac": "NP_001276952", "refseq_name": "interleukin-12 receptor subunit beta-1 isoform 3 precursor", "gene_name": "IL12RB1", "gene_names_uniprotkb": "IL12RB1; IL12RB; IL12R", "gene_names_refseq": "CD212; IL-12R-BETA1; IL12RB1; IL12RB; IMD30", "start_pos": 123, "end_pos": 123, "site_seq": "T", "up_seq": "AGVSVLYTVTLWVESWARNQ", "down_seq": "EKSPEVTLQLYNSVKYEPPL", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 3, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "n-glyco-sequon-loss;o-glyco-site-loss", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "P42701-1.123.123", "record_type": "site" }, { "uniprot_canonical_ac": "P42701-1", "uniprot_id": "I12R1_HUMAN", "protein_name": "Interleukin-12 receptor subunit beta-1", "length": 662, "refseq_ac": "NP_001276952", "refseq_name": "interleukin-12 receptor subunit beta-1 isoform 3 precursor", "gene_name": "IL12RB1", "gene_names_uniprotkb": "IL12RB1; IL12RB; IL12R", "gene_names_refseq": "CD212; IL-12R-BETA1; IL12RB1; IL12RB; IMD30", "start_pos": 174, "end_pos": 174, "site_seq": "H", "up_seq": "QLRMEWETPDNQVGAEVQFR", "down_seq": "RTPSSPWKLGDCGPQDDDTE", "glycosylation": "no", "glycosylation_count": 0, "mutagenesis": "no", "mutagenesis_count": 0, "snv": "yes", "snv_count": 1, "phosphorylation": "no", "phosphorylation_count": 0, "glycation": "no", "glycation_count": 0, "biomarkers": "no", "biomarkers_count": 0, "residue": "", "glycosylation_type": "", "snv_type": "germline", "glycoeffect": "n-glyco-sequon-gain", "missing_score": 10000, "n_glycosylation_count": 0, "o_glycosylation_count": 0, "glycan_count": 0, "reported_glycosite_flag": false, "mined_glycosite_flag": false, "predicted_glycosite_flag": false, "tax_id": 9606, "organism": "Human", "hit_score": 0.1, "record_id": "P42701-1.174.174", "record_type": "site" } ]