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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RNF17_chr13_24759169_24884921 | 24881962 | C | CTATATAG others(275): Show |
downstream_gene_variant | MODIFIER | HG01952.hp2 HG03710.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 a0001c0001t0001g0210 a0001c0001t0001g0228 |
3 | 426 | 0.0070 | 282 | c.*22 others(293): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2042 | chr13 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24881964 | A | ATATAGAT others(275): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0172 | 1 | 426 | 0.0024 | 282 | c.*22 others(293): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2044 | chr13 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24882023 | T | TATAGATA others(275): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0084 | 1 | 426 | 0.0024 | 282 | c.*22 others(293): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2103 | chr13 | TogoVar | |||||||
RNF8_chr6_37348983_37399734 | 37364261 | T | TAAAACCA others(275): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0151 | 1 | 324 | 0.0031 | 282 | c.240 others(299): Show |
RNF8 | ENSG00000112130.17 | transcript | ENST00000373479.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RNF8_chr6_37348983_37399734 | 37364261 | T | TAAAACCA others(275): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0166 | 1 | 324 | 0.0031 | 282 | c.240 others(299): Show |
RNF8 | ENSG00000112130.17 | transcript | ENST00000373479.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RTN4IP1_chr6_106565771_106634498 | 106589237 | G | GGAGGAGG others(275): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0335 | 1 | 396 | 0.0025 | 282 | c.807 others(299): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
SAMD10_chr20_63969116_63984642 | 63970942 | C | CCTTCCTT others(275): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0049 | 1 | 342 | 0.0029 | 282 | c.*45 others(293): Show |
SAMD10 | ENSG00000130590.14 | transcript | ENST00000369886.8 | protein_coding | 3173 | chr20 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668865 | C | CCCTCACC others(275): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0071 | 1 | 262 | 0.0038 | 282 | c.249 others(301): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668865 | C | CCCTCACC others(275): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0016 | a0001c0016t0004 | a0001c0016t0004g0064 | 1 | 262 | 0.0038 | 282 | c.249 others(301): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76533664 | T | TAAAATTA others(275): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0119 | 1 | 312 | 0.0032 | 282 | c.283 others(303): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 23/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76533664 | T | TAAAATTA others(275): Show |
intron_variant | MODIFIER | HG01175.hp2 NA18948.hp2 NA18957.hp2 others(1): Show |
a0001a0007 | a0001c0001a0007c0020 | a0001c0001t0003a0007c0020t0003 | a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0156 others(1): Show |
4 | 312 | 0.0128 | 282 | c.283 others(303): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 23/31 | chr15 | TogoVar | |||||||
SCARF1_chr17_1628858_1650732 | 1638608 | T | TGGGCGAC others(275): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0009 | a0009c0019 | a0009c0019t0002 | a0009c0019t0002g0215 | 1 | 401 | 0.0025 | 282 | c.136 others(299): Show |
SCARF1 | ENSG00000074660.17 | transcript | ENST00000263071.9 | protein_coding | 8/10 | chr17 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1288923 | C | CCGTGTCT others(275): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 290 | 0.0035 | 282 | c.166 others(299): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289972 | G | GTCTCTGC others(275): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0043 | 1 | 290 | 0.0035 | 282 | c.166 others(299): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339677 | C | CTCTATGC others(275): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0036 | 1 | 280 | 0.0036 | 282 | c.89- others(295): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(275): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0004 | a0001c0004t0038 | a0001c0004t0038g0238 | 1 | 280 | 0.0036 | 282 | c.89- others(295): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339864 | A | ACTCTATC others(275): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 |
a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0011 a0002c0002t0018g0012 |
2 | 280 | 0.0071 | 282 | c.89- others(295): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77485015 | G | GCGATTGT others(275): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0005 | a0005c0009 | a0005c0009t0003 | a0005c0009t0003g0054 | 1 | 150 | 0.0067 | 282 | c.914 others(299): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | chr17 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77485015 | G | GTGATTGT others(275): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0010 | 1 | 150 | 0.0067 | 282 | c.914 others(299): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77485015 | G | GTGATTGT others(275): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0029 | 1 | 150 | 0.0067 | 282 | c.914 others(299): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77485015 | G | GCGATTGT others(275): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0005 | a0005c0009 | a0005c0009t0004 | a0005c0009t0004g0146 | 1 | 158 | 0.0063 | 282 | c.860 others(299): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | chr17 | TogoVar | |||||||
SEPTIN9_chr17_77314518_77505593 | 77485015 | G | GTGATTGT others(275): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0148 | 1 | 158 | 0.0063 | 282 | c.860 others(299): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 431888 | C | CAGATAGA others(275): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0005 | a0005c0009 | a0005c0009t0005 | a0005c0009t0005g0048 | 1 | 212 | 0.0047 | 282 | c.111 others(301): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 432120 | T | TAGATGGC others(275): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03225.hp2 |
a0004 | a0004c0011 | a0004c0011t0005 | a0004c0011t0005g0059 a0004c0011t0005g0063 |
2 | 212 | 0.0094 | 282 | c.111 others(301): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 432147 | C | CGTGAGTG others(275): Show |
intron_variant | MODIFIER | NA18954.hp2 NA18960.hp1 NA18995.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0012 | a0001c0003t0002a0002c0012t0002 | a0001c0003t0002g0069 a0001c0003t0002g0075 a0001c0003t0002g0076 others(1): Show |
4 | 212 | 0.0189 | 282 | c.111 others(301): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 432321 | C | CGTGAGTG others(275): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0008 | a0008c0015 | a0008c0015t0012 | a0008c0015t0012g0027 | 1 | 212 | 0.0047 | 282 | c.111 others(301): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 432391 | T | TTAGAGGA others(275): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0014 | 1 | 212 | 0.0047 | 282 | c.111 others(301): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 432584 | T | TGGCGCTT others(275): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0004 | a0004c0011 | a0004c0011t0005 | a0004c0011t0005g0059 | 1 | 212 | 0.0047 | 282 | c.111 others(301): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401214 | C | CCCCGCTC others(275): Show |
downstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 242 | 0.0041 | 282 | c.*46 others(293): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4501 | chr11 | TogoVar | |||||||
SIGLEC14_chr19_51634478_51651825 | 51636051 | C | CTAATTTT others(275): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 HG02615.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0031a0001c0001t0041a0001c0001t0066others(1): Show | a0001c0001t0031g0024 a0001c0001t0041g0123 a0001c0001t0066g0132 others(1): Show |
4 | 300 | 0.0133 | 282 | c.*73 others(293): Show |
SIGLEC14 | ENSG00000254415.4 | transcript | ENST00000360844.7 | protein_coding | 3426 | chr19 | TogoVar | |||||||
SIMC1_chr5_176233424_176350989 | 176305356 | G | GAGGGAGG others(275): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 360 | 0.0028 | 282 | c.173 others(301): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
SLC9A3_chr5_465456_529449 | 502826 | C | CGCCGAAA others(275): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0105 a0001c0001t0010g0106 |
2 | 218 | 0.0092 | 282 | c.212 others(301): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325270 | G | GGGGGGCG others(275): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0105 | 1 | 150 | 0.0067 | 282 | c.531 others(299): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1143707 | T | TAAAATAC others(275): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0165 | 1 | 190 | 0.0053 | 282 | c.411 others(299): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1143707 | T | TAAAATAC others(275): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02451.hp2 HG02717.hp1 others(5): Show |
a0001a0005a0015 | a0001c0001a0005c0006a0015c0025 | a0001c0001t0001a0005c0006t0001a0015c0025t0001 | a0001c0001t0001g0123 a0005c0006t0001g0079 a0005c0006t0001g0081 others(5): Show |
8 | 190 | 0.0421 | 282 | c.411 others(299): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1143707 | T | TAAAATAC others(275): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG00673.hp2 others(20): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0003c0007others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(13): Show | a0001c0001t0001g0039 a0001c0002t0001g0115 a0001c0002t0001g0170 others(20): Show |
23 | 190 | 0.1211 | 282 | c.411 others(299): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7724369 | A | ATGATGGT others(275): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0053 | a0001c0002t0053g0082 | 1 | 168 | 0.0060 | 282 | c.261 others(299): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7724931 | A | AGTAGTGG others(275): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG01070.hp1 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0005a0001c0001t0032a0001c0001t0068others(15): Show | a0001c0001t0005g0130 a0001c0001t0032g0141 a0001c0001t0068g0007 others(15): Show |
18 | 168 | 0.1071 | 282 | c.261 others(299): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPDYE4_chr17_8745853_8763546 | 8746874 | C | CCCTTCCC others(275): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 282 | c.*54 others(293): Show |
SPDYE4 | ENSG00000183318.12 | transcript | ENST00000689094.1 | protein_coding | 3978 | chr17 | TogoVar | |||||||
SPINK6_chr5_148198042_148220137 | 148210246 | A | ATTTCTGC others(275): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03209.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0029 | 2 | 438 | 0.0046 | 282 | c.82- others(297): Show |
SPINK6 | ENSG00000178172.7 | transcript | ENST00000325630.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TCF25_chr16_89868592_89916379 | 89907833 | C | CCCAGTTT others(275): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03209.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0005 a0002c0003t0001g0275 a0002c0003t0001g0281 others(1): Show |
5 | 300 | 0.0167 | 282 | c.179 others(299): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | chr16 | TogoVar | |||||||
TCF25_chr16_89868592_89916379 | 89907833 | C | CCCGGCTC others(275): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02615.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 a0001c0001t0001g0186 a0001c0001t0001g0192 |
3 | 300 | 0.0100 | 282 | c.179 others(299): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | chr16 | TogoVar | |||||||
TEKT5_chr16_10622501_10699930 | 10698043 | C | CTGATATT others(275): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0192 | 1 | 388 | 0.0026 | 282 | c.-31 others(293): Show |
TEKT5 | ENSG00000153060.8 | transcript | ENST00000283025.7 | protein_coding | 3114 | chr16 | TogoVar | |||||||
TENM4_chr11_78647829_79446030 | 79138835 | C | CCTTATAT others(275): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0023 | 1 | 94 | 0.0106 | 282 | c.-66 others(299): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 4/33 | chr11 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273788 | C | CCGATCGC others(275): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0003 | a0003c0029 | a0003c0029t0001 | a0003c0029t0001g0177 | 1 | 392 | 0.0026 | 282 | c.228 others(301): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377189 | G | GCCCCACC others(275): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0198 | 1 | 370 | 0.0027 | 282 | c.-12 others(293): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1164 | chr19 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161846 | A | ACACCCCT others(275): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0058 | 1 | 388 | 0.0026 | 282 | c.*23 others(293): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2082 | chr11 | TogoVar | |||||||
TM4SF19_chr3_196318547_196343388 | 196334895 | G | GATGCCCT others(275): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0046 | 1 | 370 | 0.0027 | 282 | c.-2+ others(297): Show |
TM4SF19 | ENSG00000145107.16 | transcript | ENST00000273695.4 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
TM4SF19_chr3_196318547_196343388 | 196335076 | A | ACTGGGAG others(275): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 370 | 0.0027 | 282 | c.-2+ others(297): Show |
TM4SF19 | ENSG00000145107.16 | transcript | ENST00000273695.4 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
TMCO3_chr13_113486021_113555229 | 113543276 | C | CCCCCCGT others(275): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18966.hp1 NA18994.hp1 |
a0003a0006 | a0003c0002a0006c0010 | a0003c0002t0002a0006c0010t0002 | a0003c0002t0002g0051 a0006c0010t0002g0050 a0006c0010t0002g0053 |
3 | 368 | 0.0082 | 282 | c.169 others(301): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |