| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RNF213_chr17_80255852_80403794 | 80355506 | C | CGGGAATG others(439): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0008 | a0008c0013 | a0008c0013t0028 | a0008c0013t0028g0241 | 1 | 292 | 0.0034 | 446 | c.108 others(465): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 36/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RPA3_chr7_7631518_7723607 | 7678876 | T | TATAAATA others(439): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 308 | 0.0033 | 446 | c.-75 others(465): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
| RPA3_chr7_7631518_7723607 | 7678876 | T | TATAAATA others(439): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 308 | 0.0033 | 446 | c.-75 others(465): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 234080 | C | CGAGCAGG others(439): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 1 | 133 | 0.0075 | 446 | c.613 others(465): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 234324 | A | ACCCTGAC others(439): Show |
intron_variant | MODIFIER | HG00280.hp1 HG04184.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0115 a0001c0002t0001g0057 |
2 | 133 | 0.0150 | 446 | c.613 others(465): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
| RSRC1_chr3_158105089_158550730 | 158228874 | A | AACACACA others(439): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 276 | 0.0036 | 446 | c.494 others(465): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| RUNDC3B_chr7_87623398_87837296 | 87626420 | G | GTGTCATA others(439): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 a0001c0001t0002g0166 |
2 | 202 | 0.0099 | 446 | c.-24 others(457): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1977 | chr7 | TogoVar | |||||||
| RXRA_chr9_134321455_134445585 | 134444377 | C | CCCTCCTT others(439): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 232 | 0.0043 | 446 | c.*77 others(457): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 3793 | chr9 | TogoVar | |||||||
| SAMD12_chr8_118372984_118626963 | 118469545 | T | TATAACAT others(439): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02922.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0031 a0001c0001t0003g0038 a0001c0001t0004g0076 |
3 | 188 | 0.0160 | 446 | c.193 others(465): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
| SCNN1D_chr1_1275436_1297025 | 1288255 | T | TCCCGTGT others(439): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0138 | 1 | 290 | 0.0035 | 446 | c.166 others(463): 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(439): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0289 | 1 | 290 | 0.0035 | 446 | c.166 others(463): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SH3RF3_chr2_109124205_109509634 | 109199495 | G | GAATGGAA others(439): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 172 | 0.0058 | 446 | c.573 others(465): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SLC6A3_chr5_1387794_1450440 | 1422412 | G | GGTGCTGC others(439): Show |
intron_variant | MODIFIER | NA18612.hp1 NA19009.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0337 a0001c0002t0001g0339 |
2 | 373 | 0.0054 | 446 | c.654 others(461): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 4/14 | chr5 | TogoVar | |||||||
| SLC6A3_chr5_1387794_1450440 | 1422425 | C | CTGCTGGG others(439): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0253 | 1 | 373 | 0.0027 | 446 | c.654 others(461): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 4/14 | chr5 | TogoVar | |||||||
| SLC6A3_chr5_1387794_1450440 | 1422457 | C | CCCACGCT others(439): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0037 | 1 | 373 | 0.0027 | 446 | c.654 others(461): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 4/14 | chr5 | TogoVar | |||||||
| SNX9_chr6_157818246_157950077 | 157827118 | T | TATATTAT others(439): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 302 | 0.0033 | 446 | c.12+ others(461): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| STAB2_chr12_103582273_103771719 | 103768598 | G | GGGGAGGG others(439): Show |
downstream_gene_variant | MODIFIER | NA18997.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0200 | 1 | 256 | 0.0039 | 446 | c.*22 others(457): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 1880 | chr12 | TogoVar | |||||||
| SUCO_chr1_172528150_172616833 | 172571917 | C | CGGGAGGG others(439): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0117 |
3 | 340 | 0.0088 | 446 | c.104 others(465): Show |
SUCO | ENSG00000094975.15 | transcript | ENST00000263688.4 | protein_coding | 9/23 | chr1 | TogoVar | |||||||
| SUFU_chr10_102498972_102638535 | 102637656 | G | GATTATAA others(439): Show |
downstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0028 | 1 | 268 | 0.0037 | 446 | c.*75 others(457): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 4122 | chr10 | TogoVar | |||||||
| SUFU_chr10_102498972_102638535 | 102637656 | G | GATTATAA others(439): Show |
downstream_gene_variant | MODIFIER | NA18941.hp1 NA18943.hp1 NA18960.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0005 others(3): Show |
6 | 268 | 0.0224 | 446 | c.*75 others(457): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 4122 | chr10 | TogoVar | |||||||
| SUFU_chr10_102498972_102638535 | 102637685 | A | ATATGATT others(439): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 268 | 0.0037 | 446 | c.*75 others(457): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 4151 | chr10 | TogoVar | |||||||
| SULT6B1_chr2_37162820_37193670 | 37166449 | T | TCCCTCCC others(439): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0059 | 1 | 354 | 0.0028 | 446 | c.*14 others(457): Show |
SULT6B1 | ENSG00000138068.12 | transcript | ENST00000535679.6 | protein_coding | 1370 | chr2 | TogoVar | |||||||
| SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(439): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0003 | a0001c0003t0042 | a0001c0003t0042g0258 | 1 | 276 | 0.0036 | 446 | c.-18 others(465): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
| SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(439): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01175.hp1 |
a0001 | a0001c0003 | a0001c0003t0012a0001c0003t0028 | a0001c0003t0012g0202 a0001c0003t0028g0203 |
2 | 276 | 0.0073 | 446 | c.-18 others(465): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
| SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(439): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0118 | 1 | 276 | 0.0036 | 446 | c.-18 others(465): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
| SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(439): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0183 | 1 | 276 | 0.0036 | 446 | c.-18 others(465): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
| TBC1D22A_chr22_46757650_47180693 | 46772292 | T | TACACATA others(439): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 112 | 0.0089 | 446 | c.62+ others(461): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1628937 | C | CGGGGGTG others(439): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0095 | 1 | 352 | 0.0028 | 446 | c.299 others(463): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
| THBS3_chr1_155190588_155212897 | 155191520 | T | TGGGGGGG others(439): Show |
downstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 298 | 0.0034 | 446 | c.*43 others(457): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4067 | chr1 | TogoVar | |||||||
| TMEM120B_chr12_121707752_121787068 | 121747551 | G | GCACTGGG others(439): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0101 | a0001c0001t0101g0007 | 1 | 314 | 0.0032 | 446 | c.189 others(461): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| TMPRSS6_chr22_37060436_37114713 | 37097943 | A | AGGGCCAC others(439): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01256.hp1 HG01258.hp1 others(1): Show |
a0001a0003 | a0001c0022a0003c0008 | a0001c0022t0001a0003c0008t0001 | a0001c0022t0001g0044 a0001c0022t0001g0045 a0001c0022t0001g0046 others(1): Show |
4 | 348 | 0.0115 | 446 | c.336 others(461): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
| TMPRSS6_chr22_37060436_37114713 | 37097943 | A | AGGGCCAC others(439): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0151 | 1 | 348 | 0.0029 | 446 | c.336 others(461): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
| TP53AIP1_chr11_128930370_128947871 | 128930666 | C | CAGGGGTT others(439): Show |
downstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0099 | 1 | 466 | 0.0022 | 446 | c.*49 others(457): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4703 | chr11 | TogoVar | |||||||
| TRAF6_chr11_36478769_36515272 | 36507456 | A | ATATGTAT others(439): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 a0001c0001t0003g0050 |
2 | 388 | 0.0052 | 446 | c.-23 others(463): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
| TTN_chr2_178520989_178812423 | 178757157 | A | ACAGTAAG others(439): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0007 | a0007c0003 | a0007c0003t0002 | a0007c0003t0002g0158 | 1 | 242 | 0.0041 | 446 | c.106 others(465): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 45/362 | chr2 | TogoVar | |||||||
| TTN_chr2_178520989_178812423 | 178757157 | A | ACAGTAAG others(439): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18966.hp2 |
a0034a0037 | a0034c0159a0037c0158 | a0034c0159t0002a0037c0158t0002 | a0034c0159t0002g0018 a0037c0158t0002g0108 |
2 | 242 | 0.0083 | 446 | c.106 others(465): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 45/362 | chr2 | TogoVar | |||||||
| TTN_chr2_178520989_178812423 | 178757187 | A | ACAGTAAG others(439): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0035 | a0035c0163 | a0035c0163t0003 | a0035c0163t0003g0025 | 1 | 242 | 0.0041 | 446 | c.106 others(465): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 45/362 | chr2 | TogoVar | |||||||
| TTN_chr2_178739405_178812423 | 178757157 | A | ACAGTAAG others(439): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0231 | 1 | 370 | 0.0027 | 446 | c.103 others(467): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 44/45 | chr2 | TogoVar | |||||||
| TTN_chr2_178739405_178812423 | 178757157 | A | ACAGTAAG others(439): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 |
a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0207 a0005c0005t0003g0227 |
2 | 370 | 0.0054 | 446 | c.103 others(467): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 44/45 | chr2 | TogoVar | |||||||
| TTN_chr2_178739405_178812423 | 178757157 | A | ACAGTAAG others(439): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18966.hp1 |
a0007a0034 | a0007c0008a0034c0080 | a0007c0008t0003a0034c0080t0003 | a0007c0008t0003g0056 a0034c0080t0003g0154 |
2 | 370 | 0.0054 | 446 | c.103 others(467): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 44/45 | chr2 | TogoVar | |||||||
| TTN_chr2_178739405_178812423 | 178757187 | A | ACAGTAAG others(439): Show |
intron_variant | MODIFIER | HG01261.hp2 NA18954.hp2 |
a0005a0033 | a0005c0005a0033c0081 | a0005c0005t0003a0033c0081t0003 | a0005c0005t0003g0224 a0033c0081t0003g0064 |
2 | 370 | 0.0054 | 446 | c.103 others(467): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 44/45 | chr2 | TogoVar | |||||||
| UMAD1_chr7_7635752_7884223 | 7678876 | T | TATAAATA others(439): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0044 | 1 | 250 | 0.0040 | 446 | c.82+ others(461): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| ZC3H12B_chrX_65029826_65512887 | 65450462 | T | TATATGTG others(439): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 165 | 0.0061 | 446 | c.-15 others(467): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ZC3H12B_chrX_65029826_65512887 | 65450477 | G | GTATATAT others(439): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 165 | 0.0061 | 446 | c.-15 others(467): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ZFPM1_chr16_88448280_88542031 | 88461004 | G | GGACCGAG others(439): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0031 | 1 | 318 | 0.0031 | 446 | c.40+ others(461): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| ZNF543_chr19_57315472_57335770 | 57319299 | T | TACATATA others(439): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0003 | a0003c0008 | a0003c0008t0019 | a0003c0008t0019g0150 | 1 | 460 | 0.0022 | 446 | c.-15 others(457): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 1172 | chr19 | TogoVar | |||||||
| ZSCAN32_chr16_3377085_3406004 | 3393202 | T | TTCTATAT others(439): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0254 | 1 | 400 | 0.0025 | 446 | c.532 others(461): Show |
ZSCAN32 | ENSG00000140987.21 | transcript | ENST00000396852.9 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
| ZSCAN32_chr16_3377085_3406004 | 3393202 | T | TTCTATAT others(439): Show |
intron_variant | MODIFIER | NA18956.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 2 | 400 | 0.0050 | 446 | c.532 others(461): Show |
ZSCAN32 | ENSG00000140987.21 | transcript | ENST00000396852.9 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
| ZSCAN32_chr16_3377085_3406004 | 3393202 | T | TTCTATAT others(439): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02074.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0263 a0001c0001t0003g0264 |
2 | 400 | 0.0050 | 446 | c.532 others(461): Show |
ZSCAN32 | ENSG00000140987.21 | transcript | ENST00000396852.9 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
| ABHD12B_chr14_50867053_50909970 | 50870987 | A | AAGAAAGA others(440): Show |
upstream_gene_variant | MODIFIER | NA19082.hp1 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0178 | 1 | 376 | 0.0027 | 447 | c.-11 others(458): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1065 | chr14 | TogoVar |