view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STARD9_chr15_42570606_42725998 | 42712097 | A | ATATATAT others(89): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03579.hp2 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0188 a0002c0002t0005g0200 |
2 | 136 | 0.0147 | 96 | c.132 others(117): Show |
STARD9 | ENSG00000159433.12 | transcript | ENST00000290607.12 | protein_coding | 26/32 | chr15 | TogoVar | |||||||
STARD9_chr15_42570606_42725998 | 42712097 | A | ATATATAT others(89): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0054 | a0002c0054t0005 | a0002c0054t0005g0012 | 1 | 135 | 0.0074 | 96 | c.132 others(117): Show |
STARD9 | ENSG00000159433.12 | transcript | ENST00000290607.12 | protein_coding | 26/32 | chr15 | TogoVar | |||||||
STK10_chr5_172037079_172193224 | 172076500 | A | AGTTGTGG others(89): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0228 | 1 | 169 | 0.0059 | 96 | c.198 others(115): Show |
STK10 | ENSG00000072786.13 | transcript | ENST00000176763.10 | protein_coding | 12/18 | chr5 | TogoVar | |||||||
STK32C_chr10_132202492_132312950 | 132250313 | A | AGAGAGGG others(89): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(117): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0021 a0001c0001t0001g0051 a0001c0001t0001g0052 others(117): Show |
120 | 330 | 0.3636 | 96 | c.263 others(113): Show |
STK32C | ENSG00000165752.17 | transcript | ENST00000298630.8 | protein_coding | 1/11 | chr10 | TogoVar | |||||||
STK32C_chr10_132202492_132312950 | 132250313 | A | AGAGAGGG others(89): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 211 | 0.0047 | 96 | c.263 others(113): Show |
STK32C | ENSG00000165752.17 | transcript | ENST00000298630.8 | protein_coding | 1/11 | chr10 | TogoVar | |||||||
STN1_chr10_103872569_103923184 | 103909390 | G | GTATATAT others(89): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0061 | a0001c0002t0061g0271 | 1 | 253 | 0.0040 | 96 | c.229 others(113): Show |
STN1 | ENSG00000107960.12 | transcript | ENST00000224950.8 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
STN1_chr10_103872569_103923184 | 103909390 | G | GTATATAT others(89): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0063 | a0001c0002t0063g0281 | 1 | 253 | 0.0040 | 96 | c.229 others(113): Show |
STN1 | ENSG00000107960.12 | transcript | ENST00000224950.8 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
STRIT1_chr3_155285227_155298683 | 155298032 | A | AAAAGAAA others(89): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01496.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013 | a0001c0001t0007g0006 a0001c0001t0013g0017 |
2 | 428 | 0.0047 | 96 | c.-44 others(107): Show |
STRIT1 | ENSG00000240045.2 | transcript | ENST00000489090.2 | protein_coding | 4350 | chr3 | TogoVar | |||||||
STRN_chr2_36832698_36971536 | 36966898 | A | AACACACA others(89): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0217 | 1 | 100 | 0.0100 | 96 | c.-43 others(105): Show |
STRN | ENSG00000115808.13 | transcript | ENST00000263918.9 | protein_coding | 363 | chr2 | TogoVar | |||||||
STX12_chr1_27768219_27829443 | 27792156 | A | ATACATAT others(89): Show |
intron_variant | MODIFIER | HG02155.hp1 NA19078.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 a0001c0001t0002g0097 |
2 | 226 | 0.0088 | 96 | c.189 others(113): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STX8_chr17_9245471_9580820 | 9429862 | A | ATAATATA others(89): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 186 | 0.0054 | 96 | c.542 others(115): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
SUSD1_chr9_112035783_112180297 | 112138240 | T | TATATATA others(89): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0150 | 1 | 288 | 0.0035 | 96 | c.706 others(113): Show |
SUSD1 | ENSG00000106868.17 | transcript | ENST00000374270.8 | protein_coding | 5/16 | chr9 | TogoVar | |||||||
SUSD1_chr9_112035783_112180297 | 112138240 | T | TATATATA others(89): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0159 | 1 | 288 | 0.0035 | 96 | c.706 others(113): Show |
SUSD1 | ENSG00000106868.17 | transcript | ENST00000374270.8 | protein_coding | 5/16 | chr9 | TogoVar | |||||||
SV2B_chr15_91095257_91307565 | 91158687 | T | TCCCCTCC others(89): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0042 | a0001c0002t0042g0135 | 1 | 212 | 0.0047 | 96 | c.-39 others(117): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9671675 | A | AATAGAAA others(89): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00733.hp2 others(45): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0007others(2): Show | a0001c0002t0002a0001c0002t0032a0001c0003t0003others(10): Show | a0001c0002t0002g0263 a0001c0002t0032g0067 a0001c0003t0003g0017 others(45): Show |
48 | 174 | 0.2759 | 96 | c.99+ others(111): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9671675 | A | AATAGAAA others(89): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00673.hp1 others(9): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0003a0002c0001t0001a0002c0001t0021others(1): Show | a0001c0003t0003g0079 a0001c0003t0003g0081 a0002c0001t0001g0034 others(9): Show |
12 | 138 | 0.0870 | 96 | c.99+ others(111): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9671689 | A | AATATATT others(89): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18965.hp1 NA19062.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0253 a0001c0003t0003g0254 a0001c0003t0003g0255 |
3 | 292 | 0.0103 | 96 | c.99+ others(111): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9671743 | G | GAAATATA others(89): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01071.hp1 HG01109.hp2 others(13): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0002a0001c0003t0009a0002c0001t0001others(1): Show | a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0124 others(13): Show |
16 | 186 | 0.0860 | 96 | c.99+ others(111): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90884250 | C | CACATACA others(89): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0165 | 1 | 158 | 0.0063 | 96 | c.158 others(115): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32814324 | A | AAAGAAAG others(89): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 21 | 0.0476 | 96 | c.711 others(115): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(89): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0198 | 1 | 59 | 0.0169 | 96 | c.-64 others(105): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | |||||||
SYT14_chr1_209933217_210176315 | 209990547 | A | ATATACGT others(89): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0068 a0001c0001t0012g0069 a0001c0001t0012g0071 |
3 | 150 | 0.0200 | 96 | c.62- others(113): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYT14_chr1_209933217_210176315 | 209990558 | T | TATACGTA others(89): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 294 | 0.0034 | 96 | c.62- others(113): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYT17_chr16_19163240_19273332 | 19252436 | T | TGCCCAGG others(89): Show |
intron_variant | MODIFIER | HG01361.hp2 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0030 | a0001c0001t0005g0122 a0001c0001t0030g0092 |
2 | 82 | 0.0244 | 96 | c.122 others(117): Show |
SYT17 | ENSG00000103528.17 | transcript | ENST00000355377.7 | protein_coding | 7/7 | chr16 | TogoVar | |||||||
SYT17_chr16_19163240_19273332 | 19252436 | T | TGCCCAGG others(89): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00741.hp2 HG01099.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(4): Show | a0001c0001t0002g0247 a0001c0001t0002g0279 a0001c0001t0005g0066 others(10): Show |
13 | 93 | 0.1398 | 96 | c.122 others(117): Show |
SYT17 | ENSG00000103528.17 | transcript | ENST00000355377.7 | protein_coding | 7/7 | chr16 | TogoVar | |||||||
SYT6_chr1_114084292_114158869 | 114144998 | C | CAAAAAAA others(89): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 424 | 0.0024 | 96 | c.164 others(113): Show |
SYT6 | ENSG00000134207.17 | transcript | ENST00000610222.3 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
TAF5L_chr1_229588134_229631122 | 229628191 | A | ATATATAT others(89): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG02145.hp2 HG02451.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0005 | a0001c0002t0002g0027 a0001c0005t0005g0032 |
3 | 238 | 0.0126 | 96 | c.-23 others(107): Show |
TAF5L | ENSG00000135801.11 | transcript | ENST00000258281.7 | protein_coding | 2070 | chr1 | TogoVar | |||||||
TALDO1_chr11_742464_770012 | 763218 | T | TGCCCCGC others(89): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 175 | 0.0057 | 96 | c.462 others(111): Show |
TALDO1 | ENSG00000177156.11 | transcript | ENST00000319006.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TALDO1_chr11_742464_770012 | 763236 | C | CCCCGCCC others(89): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 329 | 0.0030 | 96 | c.462 others(111): Show |
TALDO1 | ENSG00000177156.11 | transcript | ENST00000319006.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TBATA_chr10_70766238_70790377 | 70767628 | A | AAGAGAGA others(89): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 392 | 0.0026 | 96 | c.*37 others(107): Show |
TBATA | ENSG00000166220.14 | transcript | ENST00000456372.4 | protein_coding | 3609 | chr10 | TogoVar | |||||||
TBATA_chr10_70766238_70790377 | 70767632 | A | AAGAAAGA others(89): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0047 | 1 | 392 | 0.0026 | 96 | c.*37 others(107): Show |
TBATA | ENSG00000166220.14 | transcript | ENST00000456372.4 | protein_coding | 3605 | chr10 | TogoVar | |||||||
TBATA_chr10_70766238_70790377 | 70767660 | A | AAGAAAGA others(89): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0025 | 1 | 163 | 0.0061 | 96 | c.*37 others(107): Show |
TBATA | ENSG00000166220.14 | transcript | ENST00000456372.4 | protein_coding | 3577 | chr10 | TogoVar | |||||||
TBATA_chr10_70766238_70790377 | 70767660 | A | AAGAAAGA others(89): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 163 | 0.0061 | 96 | c.*37 others(107): Show |
TBATA | ENSG00000166220.14 | transcript | ENST00000456372.4 | protein_coding | 3577 | chr10 | TogoVar | |||||||
TBATA_chr10_70766238_70790377 | 70767660 | A | AAGAAAGA others(89): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 163 | 0.0061 | 96 | c.*37 others(107): Show |
TBATA | ENSG00000166220.14 | transcript | ENST00000456372.4 | protein_coding | 3577 | chr10 | TogoVar | |||||||
TBC1D14_chr4_6904826_7038114 | 6977077 | C | CTCCTCTC others(89): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0267 | 1 | 17 | 0.0588 | 96 | c.843 others(113): Show |
TBC1D14 | ENSG00000132405.19 | transcript | ENST00000409757.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBC1D16_chr17_79927343_80040872 | 79929984 | C | CCCTCCCC others(89): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0147 | 1 | 110 | 0.0091 | 96 | c.*10 others(109): Show |
TBC1D16 | ENSG00000167291.16 | transcript | ENST00000310924.7 | protein_coding | 2358 | chr17 | TogoVar | |||||||
TBC1D16_chr17_79927343_80040872 | 80024645 | C | CCATAGAC others(89): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01943.hp1 HG01978.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0004a0001c0003t0006a0001c0004t0018others(1): Show | a0001c0001t0004g0052 a0001c0003t0006g0053 a0001c0004t0018g0057 others(1): Show |
4 | 332 | 0.0120 | 96 | c.-62 others(115): Show |
TBC1D16 | ENSG00000167291.16 | transcript | ENST00000310924.7 | protein_coding | 1/11 | chr17 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 47043935 | T | TGGGGCAG others(89): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0069 a0001c0001t0008g0048 |
2 | 112 | 0.0179 | 96 | c.132 others(115): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47043975 | G | GTGCTGGG others(89): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02145.hp1 HG02258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0002g0012 a0001c0001t0003g0073 a0001c0001t0006g0082 others(1): Show |
4 | 24 | 0.1667 | 96 | c.132 others(115): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47117300 | T | TCCACACC others(89): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 81 | 0.0123 | 96 | c.142 others(115): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D26_chr17_15727283_15749782 | 15730678 | G | GTGTGTGT others(89): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0095 | 1 | 409 | 0.0024 | 96 | c.-18 others(107): Show |
TBC1D26 | ENSG00000214946.15 | transcript | ENST00000437605.4 | protein_coding | 1604 | chr17 | TogoVar | |||||||
TBC1D2B_chr15_77989985_78082711 | 77992796 | C | CCCCCCCC others(89): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0061 | 1 | 224 | 0.0045 | 96 | c.*53 others(107): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 2188 | chr15 | TogoVar | |||||||
TBC1D2B_chr15_77989985_78082711 | 77992835 | T | TCCCCCCC others(89): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0193 | 1 | 212 | 0.0047 | 96 | c.*53 others(107): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 2149 | chr15 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17455246 | T | TTGTATAT others(89): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(4): Show |
7 | 142 | 0.0493 | 96 | c.98- others(113): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 3/22 | chr3 | TogoVar | |||||||
TBCE_chr1_235362427_235457443 | 235412092 | G | GTTTCCCT others(89): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 | 1 | 149 | 0.0067 | 96 | c.186 others(113): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBXAS1_chr7_139824264_140025293 | 139950658 | T | TCCCTCGC others(89): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 221 | 0.0045 | 96 | c.451 others(113): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TBXAS1_chr7_139824264_140025293 | 139950664 | A | ACCCTCCA others(89): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02451.hp1 HG02683.hp1 others(3): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0015 | a0001c0001t0001a0002c0002t0001a0015c0015t0001 | a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0147 others(3): Show |
6 | 132 | 0.0455 | 96 | c.451 others(113): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TBXAS1_chr7_139824264_140025293 | 139950664 | A | ACCCTCCA others(89): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 127 | 0.0079 | 96 | c.451 others(113): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TBXAS1_chr7_139824264_140025293 | 139950664 | A | ACCCTCCA others(89): Show |
intron_variant | MODIFIER | HG02922.hp1 NA18970.hp2 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0074 a0001c0001t0001g0159 |
3 | 129 | 0.0233 | 96 | c.451 others(113): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TBXAS1_chr7_139824264_140025293 | 139950667 | C | CTCCATCT others(89): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18969.hp1 NA19010.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 others(1): Show |
4 | 258 | 0.0155 | 96 | c.451 others(113): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |