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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SBNO2_chr19_1102638_1179268 | 1148485 | C | CCACCCCA others(1140): Show |
intron_variant | MODIFIER | HG02056.hp2 NA19081.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0052a0002c0003t0001g0097 | 2 | 203 | 0.0099 | 1147 | c.167 others(1162): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1140): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0090 | 1 | 186 | 0.0054 | 1147 | c.-50 others(1158): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13065907 | T | TCTTCCTT others(1140): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0268 | 1 | 292 | 0.0034 | 1147 | c.304 others(1164): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SPTLC3_chr20_13003972_13174103 | 13065907 | T | TCTTCCTT others(1140): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0012 | a0001c0012t0023 | a0001c0012t0023g0165 | 1 | 292 | 0.0034 | 1147 | c.304 others(1164): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SUFU_chr10_102498972_102638535 | 102637435 | T | TTATATAT others(1140): Show |
downstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 268 | 0.0037 | 1147 | c.*72 others(1158): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3901 | chr10 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121185838 | C | CAGTGCTT others(1140): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0059 | 1 | 348 | 0.0029 | 1147 | c.600 others(1166): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1140): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 228 | 0.0044 | 1147 | c.127 others(1164): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(1141): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG02922.hp2 others(1): Show |
a0001a0002 | a0001c0013a0001c0042a0002c0020 | a0001c0013t0004a0001c0042t0004a0002c0020t0004 | a0001c0013t0004g0012a0001c0013t0004g0042a0001c0042t0004g0040others(1): Show | 4 | 248 | 0.0161 | 1148 | c.387 others(1167): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130897690 | T | TACACACC others(1141): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 246 | 0.0041 | 1148 | c.191 others(1167): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130897690 | T | TACACACC others(1141): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp1 others(59): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0060others(58): Show | 62 | 246 | 0.2520 | 1148 | c.191 others(1167): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130897690 | T | TACACACC others(1141): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0071a0001c0004t0001g0072 | 2 | 246 | 0.0081 | 1148 | c.191 others(1167): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(1141): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0003 | 1 | 262 | 0.0038 | 1148 | c.106 others(1167): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1099023 | C | CAGAGAGG others(1141): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 326 | 0.0031 | 1148 | c.-13 others(1167): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1141): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0267 | 1 | 376 | 0.0027 | 1148 | c.63+ others(1161): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539583 | C | TTTCATAA others(1141): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0040 | a0002c0040t0016 | a0002c0040t0016g0073 | 1 | 104 | 0.0096 | 1148 | c.139 others(1169): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539624 | C | CTTCATAA others(1141): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0036 | a0001c0036t0007 | a0001c0036t0007g0100 | 1 | 104 | 0.0096 | 1148 | c.139 others(1169): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | ATAATATA others(1141): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 | 1 | 236 | 0.0042 | 1148 | c.342 others(1169): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1141): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0077 | a0077c0143 | a0077c0143t0001 | a0077c0143t0001g0232 | 1 | 252 | 0.0040 | 1148 | c.118 others(1167): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1141): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0057 | a0057c0042 | a0057c0042t0001 | a0057c0042t0001g0165 | 1 | 252 | 0.0040 | 1148 | c.118 others(1167): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706329 | G | GATAGATA others(1141): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0273 | 1 | 292 | 0.0034 | 1148 | c.228 others(1165): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706329 | G | GATAGATA others(1141): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0247 | 1 | 292 | 0.0034 | 1148 | c.228 others(1165): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706333 | G | GATAGATA others(1141): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0003 | a0003c0069 | a0003c0069t0002 | a0003c0069t0002g0259 | 1 | 292 | 0.0034 | 1148 | c.228 others(1165): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706333 | G | GATAGATA others(1141): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0286 | 1 | 292 | 0.0034 | 1148 | c.228 others(1165): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706329 | G | GATAGATA others(1141): Show |
upstream_gene_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0083 | 1 | 369 | 0.0027 | 1148 | c.-50 others(1159): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4871 | chr4 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328039 | C | CCTGGACT others(1141): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0004 | a0004c0014 | a0004c0014t0002 | a0004c0014t0002g0139 | 1 | 416 | 0.0024 | 1148 | c.522 others(1161): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1141): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0153 | 1 | 416 | 0.0024 | 1148 | c.522 others(1163): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1141): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0156 | 1 | 416 | 0.0024 | 1148 | c.522 others(1163): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1141): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0167a0002c0002t0002g0168 | 2 | 416 | 0.0048 | 1148 | c.522 others(1163): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1141): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0155 | 1 | 416 | 0.0024 | 1148 | c.522 others(1163): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1141): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0142 | 1 | 416 | 0.0024 | 1148 | c.522 others(1163): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328367 | C | CCTGGACT others(1141): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0096 | 1 | 416 | 0.0024 | 1148 | c.522 others(1163): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328367 | C | CCTGGACT others(1141): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0115 | 1 | 416 | 0.0024 | 1148 | c.522 others(1163): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GPR35_chr2_240620480_240638159 | 240626032 | T | TGGGGGTC others(1141): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0037 | a0002c0002t0037g0117 | 1 | 400 | 0.0025 | 1148 | c.-5+ others(1161): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163272 | C | CCCTCCCT others(1141): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01255.hp2 |
a0001a0002 | a0001c0042a0002c0001 | a0001c0042t0001a0002c0001t0001 | a0001c0042t0001g0243a0002c0001t0001g0184 | 2 | 282 | 0.0071 | 1148 | c.258 others(1165): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NOTCH1_chr9_136489433_136551048 | 136535933 | G | GGTGGGAG others(1141): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 324 | 0.0031 | 1148 | c.140 others(1165): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
PARP10_chr8_143972158_143991460 | 143981349 | A | ATGGTGAT others(1141): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0069 | 1 | 380 | 0.0026 | 1148 | c.255 others(1167): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | ||||||
PARP10_chr8_143972158_143991460 | 143981916 | T | TGGTGGTG others(1141): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0076 | 1 | 380 | 0.0026 | 1148 | c.255 others(1167): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(1141): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0018 | a0018c0027 | a0018c0027t0004 | a0018c0027t0004g0119 | 1 | 322 | 0.0031 | 1148 | c.*48 others(1159): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1141): Show |
intron_variant | MODIFIER | HG00738.hp1 HG03490.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0017 | a0001c0001t0001g0199a0001c0004t0017g0053 | 2 | 370 | 0.0054 | 1148 | c.438 others(1165): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3341539 | G | GGGGGAGG others(1141): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0009 | 1 | 312 | 0.0032 | 1148 | c.188 others(1167): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 273022 | A | AAGAGACC others(1141): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0055 | 1 | 133 | 0.0075 | 1148 | c.438 others(1165): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246325070 | G | GGGGGGGC others(1141): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0140 | 1 | 150 | 0.0067 | 1148 | c.531 others(1165): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13065907 | T | TCTTCCTT others(1141): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(35): Show |
a0001a0007 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(18): Show | a0001c0001t0001g0110a0001c0001t0001g0149a0001c0001t0001g0150others(35): Show | 38 | 292 | 0.1301 | 1148 | c.304 others(1165): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SPTLC3_chr20_13003972_13174103 | 13065907 | T | TCTTCCTT others(1141): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0231 | 1 | 292 | 0.0034 | 1148 | c.304 others(1165): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
THEG_chr19_356747_381026 | 377137 | C | CCCCACCC others(1141): Show |
upstream_gene_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 370 | 0.0027 | 1148 | c.-11 others(1159): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1112 | chr19 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1141): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 360 | 0.0028 | 1148 | c.*24 others(1159): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1141): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0068 | 1 | 394 | 0.0025 | 1148 | c.129 others(1165): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(1142): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 248 | 0.0040 | 1149 | c.387 others(1168): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159098 | T | TTATATAT others(1142): Show |
downstream_gene_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 1 | 416 | 0.0024 | 1149 | c.*10 others(1162): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2580 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(1142): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG03225.hp1 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0000 | 2 | 416 | 0.0048 | 1149 | c.*10 others(1162): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar |