| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(591): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0276 | 1 | 276 | 0.0036 | 598 | c.195 others(615): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
| NRDE2_chr14_90262860_90336941 | 90300871 | A | AGGGGAGG others(591): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0004 | a0001c0004t0033 | a0001c0004t0033g0274 | 1 | 341 | 0.0029 | 598 | c.154 others(615): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
| PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(591): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 5 | 0.2000 | 598 | c.*15 others(609): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | |||||||
| PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(591): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0021 | a0002c0021t0001 | a0002c0021t0001g0063 | 1 | 5 | 0.2000 | 598 | c.*15 others(609): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | |||||||
| PHF2_chr9_93571584_93684587 | 93618890 | T | TGTGTTTC others(591): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0315 | 1 | 244 | 0.0041 | 598 | c.99- others(615): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| PLEKHN1_chr1_961482_980865 | 977993 | C | CCCGCAAC others(591): Show |
downstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 198 | 0.0051 | 598 | c.*34 others(609): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 2129 | chr1 | TogoVar | |||||||
| PNPLA7_chr9_137454952_137555402 | 137503786 | G | GAAAAAAG others(591): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0041 | 1 | 14 | 0.0714 | 598 | c.147 others(617): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
| PRDM16_chr1_3064203_3443621 | 3351532 | C | CCTCCTCT others(591): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03239.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0056a0001c0004t0063 | a0001c0001t0056g0204 a0001c0004t0063g0016 |
2 | 149 | 0.0134 | 598 | c.439 others(617): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PTDSS2_chr11_445279_496399 | 459095 | G | GACACACT others(591): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 340 | 0.0029 | 598 | c.183 others(615): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
| RASA3_chr13_113972783_114137623 | 114052671 | C | CGCTCCTG others(591): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 66 | 0.0152 | 598 | c.174 others(613): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 2/23 | chr13 | TogoVar | |||||||
| RERE_chr1_8347404_8822640 | 8502129 | T | TGCCCGGC others(591): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03130.hp1 HG03579.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0032a0001c0005t0034 | a0001c0002t0002g0157 a0001c0002t0032g0155 a0001c0005t0034g0156 |
3 | 7 | 0.4286 | 598 | c.880 others(615): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
| RFC1_chr4_39282456_39371362 | 39348443 | A | AAAGGAAA others(591): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0078 | 1 | 250 | 0.0040 | 598 | c.132 others(615): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | |||||||
| RGL1_chr1_183800120_183933532 | 183887206 | T | TCCTGTCC others(591): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 91 | 0.0110 | 598 | c.952 others(615): Show |
RGL1 | ENSG00000143344.16 | transcript | ENST00000360851.4 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| RGS12_chr4_3288021_3444913 | 3341637 | A | AGGGAGGG others(591): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0047 | a0003c0047t0001 | a0003c0047t0001g0202 | 1 | 300 | 0.0033 | 598 | c.188 others(617): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| RSPH1_chr21_42467486_42501224 | 42477225 | C | CCCCTCCA others(591): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 122 | 0.0082 | 598 | c.727 others(611): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
| RUNX1_chr21_34782801_35054302 | 34931569 | A | ATGTATAC others(591): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 a0001c0001t0001g0163 |
2 | 122 | 0.0164 | 598 | c.59- others(615): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
| RUNX1_chr21_34782801_35054302 | 34931569 | A | ATGTATAC others(591): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0025a0001c0002t0003 | a0001c0001t0025g0116 a0001c0002t0003g0084 |
2 | 122 | 0.0164 | 598 | c.59- others(615): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
| SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(591): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 230 | 0.0043 | 598 | c.115 others(615): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
| SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(591): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01256.hp1 HG01981.hp1 others(4): Show |
a0003 | a0003c0006a0003c0030 | a0003c0006t0001a0003c0006t0004a0003c0030t0001 | a0003c0006t0001g0025 a0003c0006t0001g0026 a0003c0006t0001g0029 others(4): Show |
7 | 26 | 0.2692 | 598 | c.206 others(617): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
| SLC44A5_chr1_75197129_75616114 | 75280137 | T | TATATATA others(591): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0022 | 1 | 46 | 0.0217 | 598 | c.176 others(615): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
| SMIM36_chr17_55444856_55516452 | 55501087 | A | ATATCATA others(591): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 161 | 0.0062 | 598 | c.*17 others(617): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
| SMIM36_chr17_55444856_55516452 | 55501087 | A | ATATCATA others(591): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0046 | 1 | 161 | 0.0062 | 598 | c.*17 others(617): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
| SNTG2_chr2_945849_1372613 | 1221465 | G | GTCTCTCT others(591): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0033 | 1 | 164 | 0.0061 | 598 | c.719 others(617): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SPIRE2_chr16_89823475_89876319 | 89852775 | G | GATCCCAT others(591): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0347 | 1 | 285 | 0.0035 | 598 | c.646 others(615): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| SRXN1_chr20_641615_658200 | 642261 | G | GGGGGGGG others(591): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 362 | 0.0028 | 598 | c.*64 others(609): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4353 | chr20 | TogoVar | |||||||
| SRXN1_chr20_641615_658200 | 642261 | G | GGGGGGGG others(591): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 HG02129.hp1 HG03491.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0002g0069 others(1): Show |
7 | 368 | 0.0190 | 598 | c.*64 others(609): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4353 | chr20 | TogoVar | |||||||
| TBC1D1_chr4_37886084_38144173 | 37893991 | C | CTTTTTTT others(591): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0015 | a0015c0026 | a0015c0026t0002 | a0015c0026t0002g0229 | 1 | 143 | 0.0070 | 598 | c.-94 others(615): Show |
TBC1D1 | ENSG00000065882.18 | transcript | ENST00000698857.1 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| TENM4_chr11_78647829_79446030 | 78879329 | A | AGGAGCGC others(591): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0006 | a0001c0006t0014 | a0001c0006t0014g0049 | 1 | 87 | 0.0115 | 598 | c.108 others(619): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 9/33 | chr11 | TogoVar | |||||||
| TENM4_chr11_78647829_79446030 | 78879329 | A | AGGAGCGC others(591): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0018 | a0002c0018t0010 | a0002c0018t0010g0030 | 1 | 87 | 0.0115 | 598 | c.108 others(619): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 9/33 | chr11 | TogoVar | |||||||
| TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(591): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234 | 1 | 8 | 0.1250 | 598 | c.424 others(615): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(591): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0021 | 2 | 9 | 0.2222 | 598 | c.424 others(615): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| TOX_chr8_58800412_59124147 | 59092275 | A | ATATTATA others(591): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 149 | 0.0067 | 598 | c.102 others(617): Show |
TOX | ENSG00000198846.6 | transcript | ENST00000361421.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
| TP53AIP1_chr11_128930370_128947871 | 128930605 | C | CGGGGTTA others(591): Show |
downstream_gene_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0086 | 1 | 410 | 0.0024 | 598 | c.*49 others(609): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4764 | chr11 | TogoVar | |||||||
| TP53AIP1_chr11_128930370_128947871 | 128930741 | C | CGGGGTTA others(591): Show |
downstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 339 | 0.0029 | 598 | c.*48 others(609): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4628 | chr11 | TogoVar | |||||||
| TPSD1_chr16_1251069_1264008 | 1258684 | C | CCCCCTCC others(591): Show |
3_prime_UTR_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0008 | a0001c0008t0051 | a0001c0008t0051g0001 | 1 | 159 | 0.0063 | 598 | c.*31 others(607): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 5/5 | 312 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(591): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 |
2 | 116 | 0.0172 | 598 | c.*29 others(609): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | |||||||
| TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(591): Show |
intron_variant | MODIFIER | HG02451.hp2 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0010a0002c0003t0018 | a0001c0001t0010g0151 a0002c0003t0018g0086 |
2 | 99 | 0.0202 | 598 | c.41- others(615): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| TWIST2_chr2_238843085_238915534 | 238909157 | G | GTGTAGTG others(591): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 3 | 0.3333 | 598 | c.*36 others(613): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| UBE2J2_chr1_1248912_1278854 | 1249410 | A | ACGGGCAG others(591): Show |
downstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 322 | 0.0031 | 598 | c.*57 others(609): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4501 | chr1 | TogoVar | |||||||
| ULK1_chr12_131889622_131928150 | 131917219 | C | CGGGTTCG others(591): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0254 | 1 | 74 | 0.0135 | 598 | c.218 others(615): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| UMAD1_chr7_7635752_7884223 | 7679092 | T | TATAAATA others(591): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0175 | 1 | 105 | 0.0095 | 598 | c.82+ others(613): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| VAT1_chr17_43009607_43027385 | 43017098 | G | GAGGTTGC others(591): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01361.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0064 a0001c0002t0002g0065 |
2 | 81 | 0.0247 | 598 | c.857 others(613): Show |
VAT1 | ENSG00000108828.16 | transcript | ENST00000355653.8 | protein_coding | 4/5 | chr17 | TogoVar | |||||||
| VAT1_chr17_43009607_43027385 | 43017098 | G | GAGGTTGC others(591): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 80 | 0.0125 | 598 | c.857 others(613): Show |
VAT1 | ENSG00000108828.16 | transcript | ENST00000355653.8 | protein_coding | 4/5 | chr17 | TogoVar | |||||||
| VAT1_chr17_43009607_43027385 | 43017098 | G | GAGGTTGC others(591): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 a0001c0001t0002g0142 |
2 | 81 | 0.0247 | 598 | c.857 others(613): Show |
VAT1 | ENSG00000108828.16 | transcript | ENST00000355653.8 | protein_coding | 4/5 | chr17 | TogoVar | |||||||
| VCX3B_chrX_8459830_8471510 | 8466576 | G | GGGGAGGG others(591): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0005 | 1 | 169 | 0.0059 | 598 | c.*19 others(607): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 67 | chrX | TogoVar | |||||||
| ZNF732_chr4_265675_310474 | 299343 | G | GTATATAT others(591): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0241 | 1 | 314 | 0.0032 | 598 | c.4-3 others(611): Show |
ZNF732 | ENSG00000186777.13 | transcript | ENST00000419098.6 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
| AKT3_chr1_243494724_243855243 | 243525831 | G | GGGGGAGG others(592): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0188 | 1 | 183 | 0.0055 | 599 | c.125 others(620): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
| ARHGAP39_chr8_144524179_144690846 | 144687461 | G | GGTGAGCA others(592): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 HG02135.hp2 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0204 |
3 | 148 | 0.0203 | 599 | c.-18 others(610): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1616 | chr8 | TogoVar | |||||||
| BCAS4_chr20_50790061_50882177 | 50816137 | T | TGCCTCAG others(592): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01123.hp1 HG01346.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0004 a0001c0001t0003g0227 a0001c0001t0006g0086 others(25): Show |
28 | 268 | 0.1045 | 599 | c.91- others(614): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| C2CD4C_chr19_400445_414147 | 404509 | T | TGAGGGGG others(592): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0109 | a0001c0001t0109g0089 | 1 | 242 | 0.0041 | 599 | c.*25 others(610): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 935 | chr19 | TogoVar |