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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNTB2_chr16_69182164_69314052 | 69292390 | TTATATAT others(40): Show |
T | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0152 | 1 | 218 | 0.0046 | -47 | c.134 others(66): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1112105 | GTACTTTG others(40): Show |
G | intron_variant | MODIFIER | HG03710.hp1 NA21309.hp2 |
a0003a0007 | a0003c0007a0007c0016 | a0003c0007t0001a0007c0016t0001 | a0003c0007t0001g0080a0007c0016t0001g0135 | 2 | 190 | 0.0105 | -47 | c.325 others(66): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1112592 | GTGTGTAC others(40): Show |
G | intron_variant | MODIFIER | HG02965.hp1 HG03225.hp1 HG03453.hp2 others(4): Show |
a0001a0004a0005 | a0001c0002a0004c0004a0004c0014others(1): Show | a0001c0002t0001a0001c0002t0002a0004c0004t0001others(2): Show | a0001c0002t0001g0041a0001c0002t0001g0069a0001c0002t0001g0133others(4): Show | 7 | 190 | 0.0368 | -47 | c.325 others(66): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1113663 | TGTACTAA others(40): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02451.hp2 others(2): Show |
a0001a0003a0004others(1): Show | a0001c0002a0003c0007a0004c0004others(1): Show | a0001c0002t0001a0001c0002t0002a0003c0007t0001others(2): Show | a0001c0002t0001g0109a0001c0002t0002g0076a0003c0007t0001g0068others(2): Show | 5 | 190 | 0.0263 | -47 | c.325 others(66): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1115123 | CAGGTTTA others(40): Show |
C | intron_variant | MODIFIER | HG03710.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0080 | 1 | 190 | 0.0053 | -47 | c.325 others(66): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1115655 | GAGGATCG others(40): Show |
G | intron_variant | MODIFIER | HG03710.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0080 | 1 | 190 | 0.0053 | -47 | c.325 others(66): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1115688 | TACAGTCC others(40): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01074.hp2 others(12): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0003c0008others(4): Show | a0001c0001t0001a0002c0003t0001a0003c0008t0001others(5): Show | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0063others(12): Show | 15 | 190 | 0.0790 | -47 | c.325 others(66): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNX16_chr8_81794583_81847185 | 81842354 | GAGAGAGA others(40): Show |
G | upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0128 | 1 | 306 | 0.0033 | -47 | c.-37 others(56): Show |
SNX16 | ENSG00000104497.15 | transcript | ENST00000345957.9 | protein_coding | 170 | chr8 | TogoVar | ||||||
SNX3_chr6_108206222_108266040 | 108264632 | CTGGGCGC others(40): Show |
C | upstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 356 | 0.0028 | -47 | c.-37 others(58): Show |
SNX3 | ENSG00000112335.15 | transcript | ENST00000230085.13 | protein_coding | 3593 | chr6 | TogoVar | ||||||
SOCS3_chr17_78351778_78365077 | 78364372 | TTTTTAAG others(40): Show |
T | upstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 468 | 0.0021 | -47 | c.-47 others(58): Show |
SOCS3 | ENSG00000184557.4 | transcript | ENST00000330871.3 | protein_coding | 4296 | chr17 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104696635 | TATATATA others(40): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01081.hp1 others(15): Show |
a0001a0003a0013 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0046a0001c0001t0002g0082a0001c0001t0002g0083others(15): Show | 18 | 134 | 0.1343 | -47 | c.627 others(66): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SOX21_chr13_94704622_94717545 | 94713995 | GAAAAATA others(40): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 436 | 0.0023 | -47 | c.-19 others(58): Show |
SOX21 | ENSG00000125285.6 | transcript | ENST00000376945.4 | protein_coding | 1451 | chr13 | TogoVar | ||||||
SOX6_chr11_15961449_16361546 | 16132294 | GGAAGGAA others(40): Show |
G | intron_variant | MODIFIER | HG03704.hp1 NA19066.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0030a0001c0003t0010 | a0001c0001t0030g0205a0001c0003t0010g0114 | 2 | 218 | 0.0092 | -47 | c.778 others(66): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | ||||||
SPADH_chr10_122667850_122684494 | 122681410 | AGATAGAA others(40): Show |
A | downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | -47 | c.*23 others(58): Show |
SPADH | ENSG00000286135.1 | transcript | ENST00000652090.1 | protein_coding | 1917 | chr10 | TogoVar | ||||||
SPON2_chr4_1161932_1177583 | 1165267 | GGGGGCCC others(40): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(109): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0001a0002c0003t0002a0003c0004t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0014others(9): Show | 112 | 432 | 0.2593 | -47 | c.*21 others(58): Show |
SPON2 | ENSG00000159674.12 | transcript | ENST00000290902.10 | protein_coding | 1664 | chr4 | TogoVar | ||||||
SPON2_chr4_1161932_1177583 | 1165347 | GTCAACAC others(40): Show |
G | downstream_gene_variant | MODIFIER | HG01074.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0004 | 1 | 432 | 0.0023 | -47 | c.*20 others(58): Show |
SPON2 | ENSG00000159674.12 | transcript | ENST00000290902.10 | protein_coding | 1584 | chr4 | TogoVar | ||||||
SPPL2B_chr19_2323684_2360095 | 2347663 | CTCTCCAC others(40): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG01884.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0003a0002c0005t0001a0002c0005t0003others(4): Show | a0001c0001t0003g0139a0002c0005t0001g0006a0002c0005t0001g0149others(14): Show | 25 | 414 | 0.0604 | -47 | c.135 others(66): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SPPL2B_chr19_2323684_2360095 | 2347961 | TTGATGCG others(40): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 2 | 414 | 0.0048 | -47 | c.135 others(66): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SPPL2B_chr19_2323684_2360095 | 2350455 | TTCTCTCT others(40): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0162 | 1 | 414 | 0.0024 | -47 | c.135 others(64): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SPRED2_chr2_65305851_65437599 | 65369658 | GCAGCTTC others(40): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(269): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0005others(269): Show | 272 | 276 | 0.9855 | -47 | c.27- others(64): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
SPTA1_chr1_158605704_158691715 | 158691495 | ACTGGGGC others(40): Show |
A | upstream_gene_variant | MODIFIER | HG02976.hp2 | a0069 | a0069c0040 | a0069c0040t0013 | a0069c0040t0013g0250 | 1 | 370 | 0.0027 | -47 | c.-50 others(58): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 4781 | chr1 | TogoVar | ||||||
SRSF7_chr2_38738599_38756361 | 38755923 | GGGCGGGG others(40): Show |
G | upstream_gene_variant | MODIFIER | HG03704.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0003g0005 | 2 | 426 | 0.0047 | -47 | c.-47 others(58): Show |
SRSF7 | ENSG00000115875.19 | transcript | ENST00000313117.11 | protein_coding | 4563 | chr2 | TogoVar | ||||||
SSBP3_chr1_54220432_54411394 | 54369699 | AGACGCTC others(40): Show |
A | intron_variant | MODIFIER | HG02083.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0023 | a0001c0001t0004g0091a0001c0001t0023g0003 | 2 | 280 | 0.0071 | -47 | c.276 others(66): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | ||||||
ST3GAL6_chr3_98758340_98800852 | 98779791 | CAGGGTGG others(40): Show |
C | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 372 | 0.0027 | -47 | c.336 others(64): Show |
ST3GAL6 | ENSG00000064225.13 | transcript | ENST00000483910.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
STAG3_chr7_100172918_100219381 | 100216887 | TTTTTAAA others(40): Show |
T | downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0145 | 1 | 322 | 0.0031 | -47 | c.*28 others(58): Show |
STAG3 | ENSG00000066923.19 | transcript | ENST00000615138.5 | protein_coding | 2507 | chr7 | TogoVar | ||||||
STAMBP_chr2_73823961_73872168 | 73834223 | AAAAAAAA others(40): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0017 | 1 | 368 | 0.0027 | -47 | c.203 others(64): Show |
STAMBP | ENSG00000124356.17 | transcript | ENST00000394070.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
STIM1_chr11_3850664_4098208 | 4098114 | TTTGGATT others(40): Show |
T | downstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124 | 1 | 300 | 0.0033 | -47 | c.*63 others(58): Show |
STIM1 | ENSG00000167323.13 | transcript | ENST00000526596.2 | protein_coding | 4907 | chr11 | TogoVar | ||||||
STK11_chr19_1200778_1233431 | 1209126 | TGCCTGTG others(40): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(148): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(119): Show | 151 | 406 | 0.3719 | -47 | c.290 others(64): Show |
STK11 | ENSG00000118046.17 | transcript | ENST00000326873.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
STK38L_chr12_27239286_27330959 | 27240790 | ATGTATAG others(40): Show |
A | upstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 374 | 0.0027 | -47 | c.-35 others(58): Show |
STK38L | ENSG00000211455.8 | transcript | ENST00000389032.8 | protein_coding | 3495 | chr12 | TogoVar | ||||||
STRN3_chr14_30888804_31031379 | 30967000 | CCTTCCGG others(40): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0291 | 1 | 364 | 0.0028 | -47 | c.283 others(66): Show |
STRN3 | ENSG00000196792.12 | transcript | ENST00000357479.10 | protein_coding | 1/17 | chr14 | TogoVar | ||||||
SULT4A1_chr22_43819509_43867513 | 43822701 | GGTGTGTG others(40): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01261.hp1 HG02602.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007a0001c0001t0002g0266a0001c0001t0002g0267 | 8 | 386 | 0.0207 | -47 | c.*32 others(58): Show |
SULT4A1 | ENSG00000130540.14 | transcript | ENST00000330884.9 | protein_coding | 1807 | chr22 | TogoVar | ||||||
SULT4A1_chr22_43819509_43867513 | 43822742 | AGTGTGTG others(40): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0154a0001c0001t0001g0188a0001c0001t0002g0002others(48): Show | 74 | 386 | 0.1917 | -47 | c.*32 others(58): Show |
SULT4A1 | ENSG00000130540.14 | transcript | ENST00000330884.9 | protein_coding | 1766 | chr22 | TogoVar | ||||||
SUMO4_chr6_149395262_149406278 | 149403248 | ATATATAT others(40): Show |
A | downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | -47 | c.*25 others(58): Show |
SUMO4 | ENSG00000177688.7 | transcript | ENST00000326669.6 | protein_coding | 1971 | chr6 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76171711 | GGGGGGTC others(40): Show |
G | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0156 | 1 | 234 | 0.0043 | -47 | c.581 others(66): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SYCN_chr19_39197825_39209263 | 39205230 | CATTGCAA others(40): Show |
C | upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 376 | 0.0027 | -47 | c.-10 others(57): Show |
SYCN | ENSG00000179751.7 | transcript | ENST00000318438.7 | protein_coding | 968 | chr19 | TogoVar | ||||||
SYNDIG1_chr20_24464629_24671616 | 24517184 | GAGATACA others(40): Show |
G | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 270 | 0.0037 | -47 | c.-78 others(66): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SYNE2_chr14_63848004_64231433 | 64138912 | TTGTGTGT others(40): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02809.hp1 NA18906.hp1 |
a0007 | a0007c0011 | a0007c0011t0004a0007c0011t0010 | a0007c0011t0004g0029a0007c0011t0004g0055a0007c0011t0010g0054 | 3 | 150 | 0.0200 | -47 | c.148 others(66): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 79/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SYTL4_chrX_100669491_100737121 | 100723872 | TGGGGGTC others(40): Show |
T | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 285 | 0.0035 | -47 | c.-24 others(66): Show |
SYTL4 | ENSG00000102362.16 | transcript | ENST00000372989.6 | protein_coding | 2/19 | chrX | TogoVar | ||||||
TAB2_chr6_149312712_149416607 | 149403248 | ATATATAT others(40): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0022 | 1 | 366 | 0.0027 | -47 | c.193 others(66): Show |
TAB2 | ENSG00000055208.20 | transcript | ENST00000637181.2 | protein_coding | 6/6 | chr6 | TogoVar | ||||||
TACC3_chr4_1716521_1750171 | 1748236 | AGGCACCC others(40): Show |
A | downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 1 | 344 | 0.0029 | -47 | c.*32 others(58): Show |
TACC3 | ENSG00000013810.21 | transcript | ENST00000313288.9 | protein_coding | 3066 | chr4 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48735859 | TAGAGTCC others(40): Show |
T | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0176 | 1 | 258 | 0.0039 | -47 | c.391 others(66): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48736124 | TCCCCCCA others(40): Show |
T | intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 258 | 0.0039 | -47 | c.391 others(66): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TANK_chr2_161155428_161241230 | 161236181 | GTGATCAT others(40): Show |
G | splice_region_variant | LOW | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0013 | 1 | 314 | 0.0032 | -47 | c.*66 others(56): Show |
TANK | ENSG00000136560.14 | transcript | ENST00000392749.7 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
TASP1_chr20_13384394_13643932 | 13502641 | GTGCAACA others(40): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG02135.hp1 HG02145.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0002t0003 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(12): Show | 15 | 290 | 0.0517 | -47 | c.875 others(66): Show |
TASP1 | ENSG00000089123.16 | transcript | ENST00000337743.9 | protein_coding | 10/13 | chr20 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46772424 | TGTATACA others(40): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG01515.hp2 HG02809.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0061a0001c0001t0001g0079a0001c0001t0001g0107others(1): Show | 4 | 112 | 0.0357 | -47 | c.62+ others(62): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 47069700 | GGCTGACC others(40): Show |
G | intron_variant | MODIFIER | HG02976.hp2 HG03195.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009 | a0001c0001t0001g0051a0001c0001t0005g0050a0001c0001t0009g0048 | 3 | 112 | 0.0268 | -47 | c.132 others(68): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D9B_chr5_179857071_179912897 | 179871767 | TCTCTCTC others(40): Show |
T | intron_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0089 | 1 | 362 | 0.0028 | -47 | c.241 others(64): Show |
TBC1D9B | ENSG00000197226.13 | transcript | ENST00000355235.8 | protein_coding | 14/20 | chr5 | TogoVar | ||||||
TBC1D9B_chr5_179857071_179912897 | 179871861 | CCTCTCTC others(40): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(39): Show |
a0001a0002a0003others(4): Show | a0001c0005a0001c0011a0002c0003others(7): Show | a0001c0005t0001a0001c0005t0005a0001c0005t0006others(11): Show | a0001c0005t0001g0035a0001c0005t0001g0115a0001c0005t0005g0113others(38): Show | 42 | 362 | 0.1160 | -47 | c.241 others(64): Show |
TBC1D9B | ENSG00000197226.13 | transcript | ENST00000355235.8 | protein_coding | 14/20 | chr5 | TogoVar | ||||||
TBC1D9B_chr5_179857071_179912897 | 179871908 | TCTCTCTC others(40): Show |
T | intron_variant | MODIFIER | HG03139.hp1 NA21309.hp2 |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0036a0005c0008t0001g0039 | 2 | 362 | 0.0055 | -47 | c.241 others(64): Show |
TBC1D9B | ENSG00000197226.13 | transcript | ENST00000355235.8 | protein_coding | 14/20 | chr5 | TogoVar | ||||||
TBCA_chr5_77686166_77781339 | 77773406 | TATTATTA others(40): Show |
T | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 354 | 0.0028 | -47 | c.53+ others(62): Show |
TBCA | ENSG00000171530.15 | transcript | ENST00000380377.9 | protein_coding | 1/3 | chr5 | TogoVar |