uniprotkb_accession gene_name protein_name data_source dbsnp_id cosmic_id description evidence_ECO:0000269 evidence_ECO:0000313 cytogenic_band chromosome_id position ref_allele alt_allele ref_aa alt_aa begin_aa_pos end_aa_pos frequency mutation_type polyphen_score polyphen_prediction sift_score sift_prediction somatic_status disease disease_description disease_xrefs disease_evidence_ECO:0000269 disease_evidence_ECO:0000313 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388875410 7q 7 4649893 C null D G 14 14 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs1132896281 7q 7 4649880 G null E D 18 18 missense 0.03 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs1132579929 7q 7 4649876 T null E K 20 20 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs1135000126 7q 7 4649866 T null S N 23 23 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs222423687 7q 7 4649844 G null E D 30 30 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388874162 7q 7 4649836 G null V A 33 33 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388837947 7q 7 4649824 A null C F 37 37 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs252555011 7q 7 4649816 G null V L 40 40 missense 0.33 tolerated 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388855048 7q 7 4649800 C null L R 45 45 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388866637 7q 7 4649789 T null L I 49 49 missense 0.06 tolerated 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388837976 7q 7 4649784 G null Q H 50 50 missense 0.05 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388875383 7q 7 4649750 C null T A 62 62 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388876445 7q 7 4646532 A null I F 84 84 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388874921 7q 7 4646272 T null L Q 143 143 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388850060 7q 7 4646180 T null E K 174 174 missense 0.01 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388867407 7q 7 4646149 A null N I 184 184 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388867407 7q 7 4646149 C null N S 184 184 missense 0.02 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388877511 7q 7 4645245 A null Q H 207 207 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388866590 7q 7 4645196 T null E K 224 224 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388874095 7q 7 4645005 G null F S 256 256 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3397649764 7q 7 4644991 C null C G 261 261 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs32194841 7q 7 4644587 T null D N 309 309 missense 0.1 tolerated 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388876449 7q 7 4644532 T null F Y 327 327 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388875373 7q 7 4644412 A null E V 338 338 missense 0.02 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388875433 7q 7 4644407 T null L M 340 340 missense 0.67 tolerated 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388859102 7q 7 4644350 T null V I 359 359 missense 0.16 tolerated 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs31128060 7q 7 4644323 T null A T 368 368 missense 0.82 tolerated 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388871630 7q 7 4644290 T null V M 379 379 missense 0.08 tolerated 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388863470 7q 7 4644275 G null N H 384 384 missense 0.03 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3397575075 7q 7 4644122_4644123insTATGTAT A null V * 407 407 stop gained 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3397650329 7q 7 4644105 C null S R 412 412 missense 0.09 tolerated 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388871596 7q 7 4643339 T null L M 444 444 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388871414 7q 7 4643157 T null M I 464 464 missense 0.01 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3397193102 7q 7 4643149 G null L P 467 467 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3397603782 7q 7 4643146 C null T S 468 468 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388876482 7q 7 4643143 A null R L 469 469 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388876482 7q 7 4643143 T null R Q 469 469 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388874930 7q 7 4643140 T null V E 470 470 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3397754105 7q 7 4643135 G null N H 472 472 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388837952 7q 7 4642951 G null W R 502 502 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs13467415 7q 7 4642902 A null T I 518 518 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388859103 7q 7 4642896 C null D G 520 520 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388863513 7q 7 4642763 T null L Q 527 527 missense 0.04 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs48637427 7q 7 4642741 G null E D 534 534 missense 0.11 tolerated 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388837962 7q 7 4642731 A null L F 538 538 missense 0.77 tolerated 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388850069 7q 7 4642717 T null N K 542 542 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388871609 7q 7 4639258 A null K M 589 589 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388850080 7q 7 4639111 T null C Y 612 612 missense 0.0 deleterious 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs244177417 7q 7 4636778 C null D E 676 676 missense 1.0 tolerated - low confidence 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs262208613 7q 7 4636766 C null D E 680 680 missense 1.0 tolerated - low confidence 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs248437765 7q 7 4636754 G null E D 684 684 missense 0.64 tolerated - low confidence 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs242732157 7q 7 4636735 C null T A 691 691 missense 1.0 tolerated - low confidence 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs217683205 7q 7 4636719 G null F S 696 696 missense 0.37 tolerated - low confidence 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs263242456 7q 7 4636708 C null S G 700 700 missense 0.82 tolerated - low confidence 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3397513033 7q 7 4636707 T null S N 700 700 missense 0.62 tolerated - low confidence 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388867395 7q 7 4636547 A null P S 723 723 missense 0.13 tolerated - low confidence 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs211899820 7q 7 4636483 T null G D 744 744 missense 0.6 tolerated - low confidence 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs212039581 7q 7 4635530 T null G E 823 823 missense 0.08 tolerated - low confidence 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388874940 7q 7 4635521 G null S T 826 826 missense 0.07 tolerated - low confidence 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388855053 7q 7 4635359 A null P S 850 850 missense 0.09 tolerated - low confidence 0 Q7TSI3 Ppp6r1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 EVA rs3388850036 7q 7 4635243 A null Q H 856 856 missense 0.01 deleterious - low confidence 0