| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RPL14_chr3_40452339_40473587 | 40462029 | A | ACTGCTGC others(29): Show |
conservative_inframe_insertion | MODERATE | HG01168.hp2 HG02976.hp1 NA18949.hp1 |
a0012 | a0012c0014 | a0012c0014t0002a0012c0014t0035a0012c0014t0113 | a0012c0014t0002g0007a0012c0014t0035g0074a0012c0014t0113g0002 | 3 | 418 | 0.0072 | 36 | c.477 others(43): Show |
p.Ala others(49): Show |
RPL14 | ENSG00000188846.14 | transcript | ENST00000396203.7 | protein_coding | 6/6 | 611/7136 | 478/648 | 160/215 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| RPL29_chr3_51988522_52000895 | 51993837 | T | TCCTTGG | conservative_inframe_insertion | MODERATE | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(62): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 65 | 321 | 0.2025 | 6 | c.386 others(13): Show |
p.Ala others(13): Show |
RPL29 | ENSG00000162244.12 | transcript | ENST00000294189.11 | protein_coding | 4/4 | 438/754 | 391/480 | 131/159 | chr3 | TogoVar | ||
| RPL29_chr3_51988522_52000895 | 51993837 | T | TCCTTGGC others(5): Show |
conservative_inframe_insertion | MODERATE | HG02698.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0017 | 1 | 321 | 0.0031 | 12 | c.380 others(19): Show |
p.Ala others(13): Show |
RPL29 | ENSG00000162244.12 | transcript | ENST00000294189.11 | protein_coding | 4/4 | 438/754 | 391/480 | 131/159 | chr3 | TogoVar | ||
| RRBP1_chr20_17608679_17687242 | 17659141 | T | TGGGCCCC others(23): Show |
conservative_inframe_insertion | MODERATE | HG01993.hp2 | a0064 | a0064c0102 | a0064c0102t0001 | a0064c0102t0001g0100 | 1 | 350 | 0.0029 | 30 | c.136 others(39): Show |
p.Ala others(43): Show |
RRBP1 | ENSG00000125844.17 | transcript | ENST00000377813.6 | protein_coding | 3/25 | 1679/5049 | 1366/4233 | 456/1410 | chr20 | TogoVar | ||
| RRBP1_chr20_17608679_17687242 | 17659162 | C | CCCTGGTT others(503): Show |
conservative_inframe_insertion | MODERATE | NA19043.hp2 | a0015 | a0015c0118 | a0015c0118t0002 | a0015c0118t0002g0147 | 1 | 350 | 0.0029 | 510 | c.134 others(519): Show |
p.Gln others(523): Show |
RRBP1 | ENSG00000125844.17 | transcript | ENST00000377813.6 | protein_coding | 3/25 | 1658/5049 | 1345/4233 | 449/1410 | chr20 | TogoVar | ||
| RRBP1_chr20_17608679_17687242 | 17659162 | C | CCCTGGTT others(473): Show |
conservative_inframe_insertion | MODERATE | NA19091.hp2 | a0080 | a0080c0119 | a0080c0119t0003 | a0080c0119t0003g0106 | 1 | 350 | 0.0029 | 480 | c.134 others(489): Show |
p.Gln others(493): Show |
RRBP1 | ENSG00000125844.17 | transcript | ENST00000377813.6 | protein_coding | 3/25 | 1658/5049 | 1345/4233 | 449/1410 | chr20 | TogoVar | ||
| RRBP1_chr20_17608679_17687242 | 17659162 | C | CCCTGGTT others(473): Show |
conservative_inframe_insertion | MODERATE | NA18944.hp1 NA18997.hp1 |
a0002 | a0002c0038 | a0002c0038t0003 | a0002c0038t0003g0104a0002c0038t0003g0105 | 2 | 350 | 0.0057 | 480 | c.134 others(489): Show |
p.Gln others(493): Show |
RRBP1 | ENSG00000125844.17 | transcript | ENST00000377813.6 | protein_coding | 3/25 | 1658/5049 | 1345/4233 | 449/1410 | chr20 | TogoVar | ||
| RRBP1_chr20_17608679_17687242 | 17659219 | T | TTGCCCTG others(473): Show |
conservative_inframe_insertion | MODERATE | HG02080.hp1 | a0088 | a0088c0121 | a0088c0121t0001 | a0088c0121t0001g0177 | 1 | 350 | 0.0029 | 480 | c.128 others(489): Show |
p.Gly others(493): Show |
RRBP1 | ENSG00000125844.17 | transcript | ENST00000377813.6 | protein_coding | 3/25 | 1601/5049 | 1288/4233 | 430/1410 | chr20 | TogoVar | ||
| RRBP1_chr20_17608679_17687242 | 17659234 | G | GCCCCCTC others(479): Show |
conservative_inframe_insertion | MODERATE | NA19067.hp1 | a0089 | a0089c0122 | a0089c0122t0001 | a0089c0122t0001g0107 | 1 | 350 | 0.0029 | 486 | c.127 others(495): Show |
p.Gly others(499): Show |
RRBP1 | ENSG00000125844.17 | transcript | ENST00000377813.6 | protein_coding | 3/25 | 1586/5049 | 1273/4233 | 425/1410 | chr20 | TogoVar | ||
| RRP12_chr10_97351701_97406340 | 97366764 | G | GCTCCTCC others(5): Show |
conservative_inframe_insertion | MODERATE | HG03834.hp2 NA18747.hp2 NA18954.hp2 others(3): Show |
a0004 | a0004c0010 | a0004c0010t0001a0004c0010t0005 | a0004c0010t0001g0034a0004c0010t0001g0155a0004c0010t0001g0162others(3): Show | 6 | 400 | 0.0150 | 12 | c.318 others(21): Show |
p.Glu others(15): Show |
RRP12 | ENSG00000052749.14 | transcript | ENST00000370992.9 | protein_coding | 27/34 | 3301/4396 | 3192/3894 | 1064/1297 | chr10 | TogoVar | ||
| RSPH6A_chr19_45790713_45820308 | 45795880 | T | TCTCCTCG others(11): Show |
conservative_inframe_insertion | MODERATE | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(133): Show |
a0002a0004a0011others(2): Show | a0002c0002a0002c0009a0002c0010others(4): Show | a0002c0002t0001a0002c0009t0001a0002c0010t0001others(4): Show | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0009others(108): Show | 136 | 424 | 0.3208 | 18 | c.212 others(27): Show |
p.Glu others(31): Show |
RSPH6A | ENSG00000104941.8 | transcript | ENST00000221538.8 | protein_coding | 6/6 | 2274/2442 | 2142/2154 | 714/717 | chr19 | TogoVar | ||
| RSPH6A_chr19_45790713_45820308 | 45804713 | T | TCTCCTGG others(2): Show |
conservative_inframe_insertion | MODERATE | HG02258.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0030a0005c0006t0001g0169a0005c0006t0001g0170 | 4 | 424 | 0.0094 | 9 | c.119 others(18): Show |
p.Glu others(22): Show |
RSPH6A | ENSG00000104941.8 | transcript | ENST00000221538.8 | protein_coding | 3/6 | 1323/2442 | 1191/2154 | 397/717 | chr19 | TogoVar | ||
| RTTN_chr18_69998031_70210687 | 70196614 | T | TCTC | conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00621.hp1 others(133): Show |
a0001a0002a0004others(16): Show | a0001c0001a0001c0003a0001c0016others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(43): Show | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(132): Show | 136 | 156 | 0.8718 | 3 | c.725 others(10): Show |
p.Gly others(6): Show |
RTTN | ENSG00000176225.15 | transcript | ENST00000640769.2 | protein_coding | 7/49 | 756/7830 | 727/6681 | 243/2226 | chr18 | TogoVar | ||
| RYK_chr3_134152133_134255859 | 134250569 | A | AGCGGCG | conservative_inframe_insertion | MODERATE | HG01884.hp2 HG02886.hp2 HG02965.hp1 |
a0004 | a0004c0004 | a0004c0004t0007 | a0004c0004t0007g0009a0004c0004t0007g0010a0004c0004t0007g0011 | 3 | 376 | 0.0080 | 6 | c.80_ others(11): Show |
p.Pro others(11): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 1/15 | 290/3049 | 85/1824 | 29/607 | chr3 | TogoVar | ||
| SAAL1_chr11_18075292_18111082 | 18105983 | A | ACCTCCT | conservative_inframe_insertion | MODERATE | HG00438.hp2 NA18945.hp2 NA18986.hp2 others(7): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0006a0005c0005t0001g0058a0005c0005t0001g0059 | 10 | 284 | 0.0352 | 6 | c.53_ others(11): Show |
p.Glu others(11): Show |
SAAL1 | ENSG00000166788.10 | transcript | ENST00000524803.6 | protein_coding | 1/12 | 99/1573 | 58/1425 | 20/474 | chr11 | TogoVar | ||
| SAAL1_chr11_18075292_18111082 | 18106011 | C | CCGG | conservative_inframe_insertion | MODERATE | HG00280.hp2 HG00738.hp1 HG01074.hp1 others(46): Show |
a0002a0015 | a0002c0002a0002c0008a0015c0013 | a0002c0002t0001a0002c0008t0001a0015c0013t0001 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0022others(20): Show | 49 | 284 | 0.1725 | 3 | c.28_ others(8): Show |
p.Pro others(5): Show |
SAAL1 | ENSG00000166788.10 | transcript | ENST00000524803.6 | protein_coding | 1/12 | 71/1573 | 30/1425 | 10/474 | chr11 | TogoVar | ||
| SALL1_chr16_51130982_51156270 | 51141732 | T | TGCC | conservative_inframe_insertion | MODERATE | NA18978.hp2 NA19009.hp2 NA19085.hp1 |
a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0029a0006c0013t0001g0085 | 3 | 374 | 0.0080 | 3 | c.487 others(10): Show |
p.Gly others(6): Show |
SALL1 | ENSG00000103449.13 | transcript | ENST00000251020.9 | protein_coding | 2/3 | 518/5134 | 489/3975 | 163/1324 | chr16 | TogoVar | ||
| SALL1_chr16_51130982_51156270 | 51141744 | C | CGCT | conservative_inframe_insertion | MODERATE | HG00738.hp2 HG01123.hp2 HG01884.hp2 others(17): Show |
a0002a0008a0019others(1): Show | a0002c0005a0002c0017a0002c0024others(3): Show | a0002c0005t0001a0002c0005t0002a0002c0005t0009others(5): Show | a0002c0005t0001g0010a0002c0005t0001g0033a0002c0005t0001g0058others(10): Show | 20 | 374 | 0.0535 | 3 | c.475 others(10): Show |
p.Ser others(6): Show |
SALL1 | ENSG00000103449.13 | transcript | ENST00000251020.9 | protein_coding | 2/3 | 506/5134 | 477/3975 | 159/1324 | chr16 | TogoVar | ||
| SALL1_chr16_51130982_51156270 | 51141744 | C | CGCTGCT | conservative_inframe_insertion | MODERATE | HG02145.hp1 HG02723.hp1 HG02723.hp2 others(4): Show |
a0004 | a0004c0009a0004c0011 | a0004c0009t0001a0004c0011t0001 | a0004c0009t0001g0044a0004c0009t0001g0061a0004c0009t0001g0139others(2): Show | 7 | 374 | 0.0187 | 6 | c.472 others(13): Show |
p.Ser others(13): Show |
SALL1 | ENSG00000103449.13 | transcript | ENST00000251020.9 | protein_coding | 2/3 | 506/5134 | 477/3975 | 159/1324 | chr16 | TogoVar | ||
| SALL1_chr16_51130982_51156270 | 51141744 | C | CGCTGCTG others(5): Show |
conservative_inframe_insertion | MODERATE | HG03942.hp1 | a0021 | a0021c0022 | a0021c0022t0005 | a0021c0022t0005g0135 | 1 | 374 | 0.0027 | 12 | c.466 others(19): Show |
p.Ser others(13): Show |
SALL1 | ENSG00000103449.13 | transcript | ENST00000251020.9 | protein_coding | 2/3 | 506/5134 | 477/3975 | 159/1324 | chr16 | TogoVar | ||
| SAMD4A_chr14_54562128_54798312 | 54702332 | C | CCAG | conservative_inframe_insertion | MODERATE | HG00558.hp2 HG00609.hp2 HG00741.hp2 others(3): Show |
a0002 | a0002c0003a0002c0009 | a0002c0003t0001a0002c0003t0002a0002c0003t0010others(1): Show | a0002c0003t0001g0065a0002c0003t0001g0089a0002c0003t0002g0135others(3): Show | 6 | 262 | 0.0229 | 3 | c.469 others(10): Show |
p.Ser others(6): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 3/13 | 1104/7157 | 472/2157 | 158/718 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
| SBSN_chr19_35518367_35533311 | 35527213 | C | CATGGTGG others(209): Show |
conservative_inframe_insertion | MODERATE | HG00609.hp1 HG00642.hp2 HG00673.hp2 others(60): Show |
a0003a0010a0020others(1): Show | a0003c0004a0003c0016a0010c0017others(2): Show | a0003c0004t0001a0003c0016t0001a0010c0017t0001others(2): Show | a0003c0004t0001g0003a0003c0004t0001g0024a0003c0004t0001g0029others(13): Show | 63 | 450 | 0.1400 | 216 | c.853 others(224): Show |
p.His others(229): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 1/4 | 1098/1946 | 1068/1773 | 356/590 | chr19 | TogoVar | ||
| SBSN_chr19_35518367_35533311 | 35527213 | C | CATGGTGG others(425): Show |
conservative_inframe_insertion | MODERATE | HG02630.hp1 | a0022 | a0022c0029 | a0022c0029t0001 | a0022c0029t0001g0056 | 1 | 450 | 0.0022 | 432 | c.106 others(441): Show |
p.His others(445): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 1/4 | 1098/1946 | 1068/1773 | 356/590 | chr19 | TogoVar | ||
| SBSN_chr19_35518367_35533311 | 35527390 | G | GGCCAAAC others(209): Show |
conservative_inframe_insertion | MODERATE | HG03017.hp1 | a0014 | a0014c0039 | a0014c0039t0001 | a0014c0039t0001g0096 | 1 | 450 | 0.0022 | 216 | c.891 others(223): Show |
p.Gly others(229): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 1/4 | 921/1946 | 891/1773 | 297/590 | chr19 | TogoVar | ||
| SCAF1_chr19_49637209_49663642 | 49652104 | G | GCCGCTC | conservative_inframe_insertion | MODERATE | NA18954.hp2 NA18962.hp1 NA18990.hp2 others(4): Show |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0001a0005c0007t0001g0102a0005c0007t0001g0119 | 7 | 382 | 0.0183 | 6 | c.174 others(15): Show |
p.Arg others(13): Show |
SCAF1 | ENSG00000126461.15 | transcript | ENST00000360565.8 | protein_coding | 7/11 | 1787/4222 | 1747/3939 | 583/1312 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| SCYGR1_chr2_227382683_227392949 | 227387907 | A | AGCCACCA others(5): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00609.hp1 HG01123.hp1 others(11): Show |
a0004 | a0004c0005 | a0004c0005t0000 | a0004c0005t0000g0000 | 14 | 454 | 0.0308 | 12 | c.42_ others(17): Show |
p.Gly others(23): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 1/1 | 42/267 | 42/267 | 14/88 | chr2 | TogoVar | ||
| SCYGR2_chr2_227593893_227604255 | 227599009 | T | TGGTGGTG others(41): Show |
conservative_inframe_insertion | MODERATE | HG03540.hp1 | a0017 | a0017c0024 | a0017c0024t0000 | a0017c0024t0000g0000 | 1 | 469 | 0.0021 | 48 | c.159 others(55): Show |
p.Gly others(11): Show |
SCYGR2 | ENSG00000284643.1 | transcript | ENST00000641394.1 | protein_coding | 1/1 | 160/363 | 160/363 | 54/120 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| SCYGR5_chr2_227661804_227672061 | 227666828 | T | TGTGGTGG others(26): Show |
conservative_inframe_insertion | MODERATE | HG01109.hp2 HG01255.hp1 HG02055.hp1 others(12): Show |
a0005 | a0005c0006 | a0005c0006t0000 | a0005c0006t0000g0000 | 15 | 460 | 0.0326 | 33 | c.42_ others(38): Show |
p.Gly others(44): Show |
SCYGR5 | ENSG00000284667.1 | transcript | ENST00000641976.1 | protein_coding | 1/1 | 43/258 | 43/258 | 15/85 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| SCYGR6_chr2_227719440_227729757 | 227724478 | G | GGCA | conservative_inframe_insertion | MODERATE | HG00408.hp2 HG00621.hp1 HG00621.hp2 others(15): Show |
a0004a0010a0011 | a0004c0006a0004c0015a0010c0016others(1): Show | a0004c0006t0000a0004c0015t0000a0010c0016t0000others(1): Show | a0004c0006t0000g0000a0004c0015t0000g0000a0010c0016t0000g0000others(1): Show | 18 | 455 | 0.0396 | 3 | c.279 others(10): Show |
p.Cys others(5): Show |
SCYGR6 | ENSG00000284725.1 | transcript | ENST00000641918.1 | protein_coding | 1/1 | 279/318 | 279/318 | 93/105 | chr2 | TogoVar | ||
| SEC16B_chr1_177923788_177975058 | 177960892 | G | GAGGGATG others(26): Show |
conservative_inframe_insertion | MODERATE | HG00423.hp2 HG00609.hp1 HG00738.hp2 others(9): Show |
a0009a0014a0023others(2): Show | a0009c0015a0009c0030a0014c0035others(3): Show | a0009c0015t0002a0009c0030t0002a0014c0035t0002others(3): Show | a0009c0015t0002g0039a0009c0015t0002g0215a0009c0015t0002g0216others(8): Show | 12 | 408 | 0.0294 | 33 | c.802 others(40): Show |
p.Pro others(46): Show |
SEC16B | ENSG00000120341.19 | transcript | ENST00000308284.11 | protein_coding | 7/26 | 1067/4486 | 834/3183 | 278/1060 | chr1 | TogoVar | ||
| SEMA6B_chr19_4537593_4564684 | 4544250 | G | GCGCCAC | conservative_inframe_insertion | MODERATE | HG02280.hp1 HG02486.hp1 HG03209.hp1 |
a0004 | a0004c0013a0004c0026 | a0004c0013t0001a0004c0013t0015a0004c0026t0001 | a0004c0013t0001g0226a0004c0013t0015g0233a0004c0026t0001g0051 | 3 | 440 | 0.0068 | 6 | c.201 others(15): Show |
p.Gly others(13): Show |
SEMA6B | ENSG00000167680.17 | transcript | ENST00000586582.6 | protein_coding | 17/17 | 2204/3862 | 2017/2667 | 673/888 | chr19 | TogoVar | ||
| SERINC2_chr1_31408213_31439678 | 31433042 | A | ACAG | conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(270): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0003a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(42): Show | a0001c0001t0001g0005a0001c0001t0001g0108a0001c0001t0001g0110others(265): Show | 273 | 376 | 0.7261 | 3 | c.110 others(12): Show |
p.Gln others(6): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 9/10 | 1158/1900 | 1105/1368 | 369/455 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| SETSIP_chr1_92069533_92080411 | 92074651 | C | CCAT | conservative_inframe_insertion | MODERATE | HG02145.hp2 HG02486.hp1 HG03540.hp1 |
a0004 | a0004c0005 | a0004c0005t0000 | a0004c0005t0000g0000 | 3 | 363 | 0.0083 | 3 | c.758 others(10): Show |
p.Asp others(6): Show |
SETSIP | ENSG00000230667.7 | transcript | ENST00000596516.3 | protein_coding | 1/1 | 760/879 | 760/879 | 254/292 | chr1 | TogoVar | ||
| SFT2D3_chr2_127696497_127710242 | 127701591 | G | GGCCGCGG others(11): Show |
conservative_inframe_insertion | MODERATE | NA18612.hp2 NA18947.hp2 NA19075.hp2 others(1): Show |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0000 | 4 | 386 | 0.0104 | 18 | c.73_ others(23): Show |
p.Pro others(11): Show |
SFT2D3 | ENSG00000173349.6 | transcript | ENST00000310981.6 | protein_coding | 1/1 | 123/3746 | 91/648 | 31/215 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| SIGLEC14_chr19_51634478_51651825 | 51646445 | G | GGGTTGTT others(16427): Show |
stop_gained others(1): Show |
HIGH | NA18977.hp1 | a0010 | a0010c0007 | a0010c0007t0003 | a0010c0007t0003g0038 | 1 | 300 | 0.0033 | 16434 | c.232 others(16441): Show |
p.Asn others(16445): Show |
SIGLEC14 | ENSG00000254415.4 | transcript | ENST00000360844.7 | protein_coding | 2/7 | 298/5134 | 232/1191 | 78/396 | chr19 | TogoVar | ||
| SIGLEC5_chr19_51605960_51635401 | 51629415 | T | TCTGACAG others(16703): Show |
stop_gained others(1): Show |
HIGH | NA20129.hp2 | a0017 | a0017c0048 | a0017c0048t0012 | a0017c0048t0012g0316 | 1 | 414 | 0.0024 | 16710 | c.642 others(16717): Show |
p.Gln others(16723): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 3/9 | 708/2993 | 642/1656 | 214/551 | chr19 | TogoVar | ||
| SIPA1L3_chr19_37902208_38213369 | 38081727 | G | GGCCACC | conservative_inframe_insertion | MODERATE | HG00558.hp2 HG01255.hp1 HG01952.hp1 others(2): Show |
a0005a0012 | a0005c0011a0005c0039a0012c0040 | a0005c0011t0001a0005c0011t0004a0005c0011t0006others(2): Show | a0005c0011t0001g0162a0005c0011t0004g0102a0005c0011t0006g0142others(2): Show | 5 | 164 | 0.0305 | 6 | c.187 others(13): Show |
p.Ala others(11): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 3/22 | 722/8004 | 193/5346 | 65/1781 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| SKIDA1_chr10_21508475_21530682 | 21516537 | C | CCCTCCT | conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00558.hp1 others(155): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0006a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(61): Show | a0001c0001t0001g0010a0001c0001t0001g0024a0001c0001t0001g0026others(142): Show | 158 | 230 | 0.6870 | 6 | c.128 others(15): Show |
p.Glu others(13): Show |
SKIDA1 | ENSG00000180592.17 | transcript | ENST00000449193.7 | protein_coding | 4/4 | 3538/6601 | 1285/2727 | 429/908 | chr10 | TogoVar | ||
| SKOR2_chr18_47201169_47256660 | 47247178 | G | GGGT | conservative_inframe_insertion | MODERATE | HG00544.hp1 HG02559.hp2 HG02630.hp1 others(6): Show |
a0004a0005a0006 | a0004c0005a0005c0007a0006c0010 | a0004c0005t0001a0005c0007t0002a0006c0010t0005 | a0004c0005t0001g0036a0004c0005t0001g0037a0004c0005t0001g0038others(6): Show | 9 | 344 | 0.0262 | 3 | c.200 others(12): Show |
p.His others(6): Show |
SKOR2 | ENSG00000215474.8 | transcript | ENST00000425639.3 | protein_coding | 2/9 | 2339/4109 | 2005/3048 | 669/1015 | chr18 | TogoVar | ||
| SLC46A3_chr13_28695080_28723970 | 28712818 | A | AAGAGGCA others(5): Show |
conservative_inframe_insertion | MODERATE | NA18964.hp2 | a0011 | a0011c0010 | a0011c0010t0002 | a0011c0010t0002g0058 | 1 | 426 | 0.0024 | 12 | c.910 others(19): Show |
p.Ser others(25): Show |
SLC46A3 | ENSG00000139508.15 | transcript | ENST00000266943.11 | protein_coding | 3/6 | 1420/3302 | 921/1386 | 307/461 | chr13 | TogoVar | ||
| SLCO4A1_chr20_62637503_62677293 | 62671773 | C | CATAGCCT others(29): Show |
conservative_inframe_insertion | MODERATE | HG00544.hp2 | a0015 | a0015c0031 | a0015c0031t0002 | a0015c0031t0002g0020 | 1 | 432 | 0.0023 | 36 | c.205 others(45): Show |
p.Ile others(13): Show |
SLCO4A1 | ENSG00000101187.16 | transcript | ENST00000217159.6 | protein_coding | 12/12 | 2233/2716 | 2086/2169 | 696/722 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
| SMIM36_chr17_55444856_55516452 | 55511103 | G | GGCC | conservative_inframe_insertion | MODERATE | HG02280.hp1 HG02976.hp1 NA19043.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0334a0002c0002t0002g0335a0002c0002t0002g0336others(1): Show | 4 | 340 | 0.0118 | 3 | c.229 others(10): Show |
p.Gly others(5): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/5 | 349/1374 | 231/282 | 77/93 | chr17 | TogoVar | ||
| SNAPC4_chr9_136370571_136405170 | 136383542 | C | CGCTGCT | conservative_inframe_insertion | MODERATE | HG01074.hp2 HG01109.hp2 HG02280.hp1 others(4): Show |
a0006a0035 | a0006c0009a0035c0022 | a0006c0009t0003a0035c0022t0003 | a0006c0009t0003g0049a0006c0009t0003g0050a0006c0009t0003g0232others(2): Show | 7 | 380 | 0.0184 | 6 | c.162 others(15): Show |
p.Ser others(13): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 16/24 | 1672/4693 | 1626/4410 | 542/1469 | chr9 | TogoVar | ||
| SNURF_chr15_24949987_24973821 | 24955057 | G | GTGCGGTG others(5): Show |
conservative_inframe_insertion | MODERATE | NA18972.hp2 | a0000 | a0000c0003 | a0000c0003t0009 | a0000c0003t0009g0056 | 1 | 386 | 0.0026 | 12 | c.9_1 others(16): Show |
p.Arg others(21): Show |
SNURF | ENSG00000273173.6 | transcript | ENST00000577949.6 | protein_coding | 1/3 | 72/1062 | 10/216 | 4/71 | chr15 | TogoVar | ||
| SOGA1_chr20_36772447_36868538 | 36803016 | A | AGGT | conservative_inframe_insertion | MODERATE | HG03669.hp1 HG03710.hp2 HG04115.hp2 |
a0005 | a0005c0010 | a0005c0010t0005a0005c0010t0031 | a0005c0010t0005g0233a0005c0010t0005g0234a0005c0010t0031g0235 | 3 | 282 | 0.0106 | 3 | c.317 others(12): Show |
p.His others(7): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 11/15 | 3372/14218 | 3178/4986 | 1060/1661 | chr20 | TogoVar | ||
| SORCS2_chr4_7187538_7747827 | 7192754 | C | CCTG | conservative_inframe_insertion | MODERATE | HG02300.hp2 HG02451.hp1 NA18522.hp1 others(2): Show |
a0006a0016 | a0006c0018a0006c0020a0006c0021others(2): Show | a0006c0018t0059a0006c0020t0020a0006c0021t0070others(2): Show | a0006c0018t0059g0145a0006c0020t0020g0037a0006c0021t0070g0103others(2): Show | 5 | 168 | 0.0298 | 3 | c.127 others(10): Show |
p.Leu others(5): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/27 | 239/6152 | 130/3480 | 44/1159 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
| SOWAHB_chr4_76889152_76903144 | 76896936 | C | CGCT | conservative_inframe_insertion | MODERATE | HG02145.hp1 HG02258.hp1 HG02723.hp1 others(2): Show |
a0007a0009 | a0007c0007a0009c0014 | a0007c0007t0011a0007c0007t0018a0009c0014t0015 | a0007c0007t0011g0000a0007c0007t0018g0000a0009c0014t0015g0000 | 5 | 438 | 0.0114 | 3 | c.911 others(10): Show |
p.Gln others(6): Show |
SOWAHB | ENSG00000186212.4 | transcript | ENST00000334306.4 | protein_coding | 1/1 | 1208/3993 | 913/2382 | 305/793 | chr4 | TogoVar | ||
| SOX1_chr13_112062149_112076706 | 112068797 | C | CGGGCGT | conservative_inframe_insertion | MODERATE | HG00673.hp2 HG00733.hp2 HG00738.hp2 others(45): Show |
a0002a0004 | a0002c0002a0002c0003a0002c0013others(2): Show | a0002c0002t0003a0002c0002t0005a0002c0002t0010others(11): Show | a0002c0002t0003g0000a0002c0002t0005g0000a0002c0002t0010g0000others(11): Show | 48 | 388 | 0.1237 | 6 | c.114 others(15): Show |
p.Gly others(13): Show |
SOX1 | ENSG00000182968.5 | transcript | ENST00000330949.3 | protein_coding | 1/1 | 1657/4558 | 1147/1176 | 383/391 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |
| SPAG1_chr8_100153587_100246904 | 100194231 | A | AGAC | conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(55): Show |
a0003a0004a0009others(1): Show | a0003c0004a0003c0018a0004c0006others(2): Show | a0003c0004t0001a0003c0004t0005a0003c0018t0001others(3): Show | a0003c0004t0001g0022a0003c0004t0001g0023a0003c0004t0001g0024others(55): Show | 58 | 366 | 0.1585 | 3 | c.105 others(12): Show |
p.Lys others(16): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 10/19 | 1092/3695 | 1060/2781 | 354/926 | chr8 | TogoVar | ||
| SPANXA2_chrX_141584708_141595762 | 141589834 | G | GAGGCCAA others(11): Show |
conservative_inframe_insertion others(1): Show |
MODERATE | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
a0005a0016a0017 | a0005c0005a0016c0017a0017c0016 | a0005c0005t0004a0005c0005t0008a0016c0017t0004others(1): Show | a0005c0005t0004g0009a0005c0005t0008g0009a0016c0017t0004g0008others(1): Show | 4 | 185 | 0.0216 | 18 | c.69_ others(23): Show |
p.Glu others(29): Show |
SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 1/2 | 130/408 | 70/294 | 24/97 | INFO_REALIGN_3_PRIME | chrX | TogoVar |