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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANKRD24_chr19_4177689_4229814 | 4193845 | G | GAGGGAGG others(42): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18943.hp1 NA19087.hp2 |
a0001a0004a0007 | a0001c0002a0004c0004a0007c0011 | a0001c0002t0002a0004c0004t0001a0007c0011t0001 | a0001c0002t0002g0250 a0004c0004t0001g0034 a0007c0011t0001g0035 |
3 | 356 | 0.0084 | 49 | c.37- others(64): Show |
ANKRD24 | ENSG00000089847.13 | transcript | ENST00000318934.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ANKRD24_chr19_4177689_4229814 | 4193845 | G | GAGGGAGG others(42): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02258.hp1 HG03195.hp2 others(1): Show |
a0002a0003a0006 | a0002c0001a0003c0003a0003c0009others(1): Show | a0002c0001t0001a0003c0003t0002a0003c0009t0001others(1): Show | a0002c0001t0001g0099 a0003c0003t0002g0094 a0003c0009t0001g0014 others(1): Show |
4 | 356 | 0.0112 | 49 | c.37- others(64): Show |
ANKRD24 | ENSG00000089847.13 | transcript | ENST00000318934.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ANKRD24_chr19_4177689_4229814 | 4193846 | A | AGGGAGGG others(42): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 1 | 356 | 0.0028 | 49 | c.37- others(64): Show |
ANKRD24 | ENSG00000089847.13 | transcript | ENST00000318934.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ANKRD27_chr19_32592006_32680180 | 32616548 | C | CAAAAAAA others(42): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0142 | 1 | 348 | 0.0029 | 49 | c.205 others(66): Show |
ANKRD27 | ENSG00000105186.16 | transcript | ENST00000306065.9 | protein_coding | 21/28 | chr19 | TogoVar | |||||||
ANKRD45_chr1_173603336_173674851 | 173613562 | G | GCCCCCGC others(42): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03209.hp2 HG03486.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007 | a0002c0002t0002g0042 a0002c0002t0002g0070 a0002c0002t0007g0305 |
3 | 342 | 0.0088 | 49 | c.731 others(66): Show |
ANKRD45 | ENSG00000183831.7 | transcript | ENST00000333279.3 | protein_coding | 5/5 | chr1 | TogoVar | |||||||
ANKRD52_chr12_56232807_56263384 | 56247876 | C | CAGGGAGA others(42): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0061 | 1 | 272 | 0.0037 | 49 | c.197 others(65): Show |
ANKRD52 | ENSG00000139645.11 | transcript | ENST00000267116.8 | protein_coding | 18/27 | chr12 | TogoVar | |||||||
ANO1_chr11_70073317_70194530 | 70127137 | G | GTGAACAC others(42): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 NA19043.hp1 |
a0001 | a0001c0008 | a0001c0008t0012a0001c0008t0020 | a0001c0008t0012g0282 a0001c0008t0012g0286 a0001c0008t0020g0284 |
3 | 302 | 0.0099 | 49 | c.109 others(66): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ANO3_chr11_26327130_26668289 | 26529403 | A | AATATATT others(42): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0128 | 1 | 190 | 0.0053 | 49 | c.738 others(66): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ANO3_chr11_26327130_26668289 | 26529403 | A | AATATATT others(42): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02647.hp1 others(1): Show |
a0001 | a0001c0003a0001c0007a0001c0012 | a0001c0003t0002a0001c0007t0003a0001c0012t0007 | a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0007t0003g0061 others(1): Show |
4 | 190 | 0.0211 | 49 | c.738 others(66): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60365368 | A | AAGCACAG others(42): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 334 | 0.0030 | 49 | c.149 others(64): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89854104 | A | ATCCGGGA others(42): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 312 | 0.0032 | 49 | c.346 others(68): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89854666 | T | TGCCCGGC others(42): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120 | 1 | 312 | 0.0032 | 49 | c.345 others(68): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89854895 | G | GGGGGGGT others(42): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0113 | 1 | 312 | 0.0032 | 49 | c.345 others(68): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
APLP2_chr11_130064894_130149805 | 130090949 | A | ACCCCCAC others(42): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00673.hp1 others(42): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0004a0003c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0144 a0001c0001t0001g0145 others(41): Show |
45 | 274 | 0.1642 | 49 | c.106 others(68): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
APLP2_chr11_130064894_130149805 | 130090949 | A | ACCCCCAC others(42): Show |
intron_variant | MODIFIER | HG01099.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | 274 | 0.0073 | 49 | c.106 others(68): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
APLP2_chr11_130064894_130149805 | 130091024 | G | GGCTGGCC others(42): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 274 | 0.0037 | 49 | c.106 others(68): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
APOBEC1_chr12_7644400_7670908 | 7670800 | A | AACCGATT others(42): Show |
upstream_gene_variant | MODIFIER | NA18945.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0092 | 1 | 432 | 0.0023 | 49 | c.-49 others(60): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 4893 | chr12 | TogoVar | |||||||
APPL2_chr12_105168300_105241174 | 105186622 | T | TATATCAT others(42): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01243.hp1 HG01257.hp1 others(25): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0006t0004 | a0001c0001t0004g0001 a0001c0001t0004g0005 a0001c0001t0004g0014 others(13): Show |
28 | 392 | 0.0714 | 49 | c.163 others(68): Show |
APPL2 | ENSG00000136044.12 | transcript | ENST00000258530.8 | protein_coding | 17/20 | chr12 | TogoVar | |||||||
APPL2_chr12_105168300_105241174 | 105186622 | T | TATATCAT others(42): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0270 | 1 | 392 | 0.0026 | 49 | c.163 others(68): Show |
APPL2 | ENSG00000136044.12 | transcript | ENST00000258530.8 | protein_coding | 17/20 | chr12 | TogoVar | |||||||
AQP12A_chr2_240686866_240703483 | 240689557 | G | GCTGGGGA others(42): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0024 | 1 | 171 | 0.0059 | 49 | c.-23 others(60): Show |
AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2308 | chr2 | TogoVar | |||||||
ARFGEF2_chr20_48916711_49041693 | 48935782 | C | CACCTCCC others(42): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0005 | 1 | 352 | 0.0028 | 49 | c.122 others(66): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFRP1_chr20_63693647_63712976 | 63693708 | A | ACCACCAC others(42): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0053 | 1 | 296 | 0.0034 | 49 | c.*67 others(60): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4938 | chr20 | TogoVar | |||||||
ARHGAP21_chr10_24578614_24728887 | 24656661 | T | TGCCCGGC others(42): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01975.hp2 NA18906.hp1 others(9): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0002a0001c0001t0008a0001c0014t0004 | a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0307 others(9): Show |
12 | 352 | 0.0341 | 49 | c.268 others(68): Show |
ARHGAP21 | ENSG00000107863.20 | transcript | ENST00000396432.7 | protein_coding | 4/25 | chr10 | TogoVar | |||||||
ARHGAP21_chr10_24578614_24728887 | 24656673 | C | CGCCCCGT others(42): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0179 | 1 | 352 | 0.0028 | 49 | c.268 others(68): Show |
ARHGAP21 | ENSG00000107863.20 | transcript | ENST00000396432.7 | protein_coding | 4/25 | chr10 | TogoVar | |||||||
ARHGAP28_chr18_6724716_6920716 | 6909301 | T | TTTTCTTT others(42): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0003 a0001c0001t0001g0151 a0001c0001t0006g0176 |
3 | 248 | 0.0121 | 49 | c.209 others(66): Show |
ARHGAP28 | ENSG00000088756.13 | transcript | ENST00000383472.9 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1823999 | C | CGCGGGGG others(42): Show |
5_prime_UTR_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0145 | 1 | 363 | 0.0028 | 49 | c.-15 others(58): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/29 | 19390 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1955344 | T | TTCCTCTG others(42): Show |
intron_variant | MODIFIER | NA18960.hp2 NA19066.hp1 |
a0001a0002 | a0001c0066a0002c0082 | a0001c0066t0022a0002c0082t0001 | a0001c0066t0022g0227 a0002c0082t0001g0282 |
2 | 363 | 0.0055 | 49 | c.352 others(68): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 28/28 | chr8 | TogoVar | |||||||
ARHGEF33_chr2_38884875_38980454 | 38934557 | C | CCTCCCCC others(42): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 HG02622.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0002g0269 a0001c0001t0003g0241 a0001c0001t0009g0005 others(6): Show |
10 | 278 | 0.0360 | 49 | c.506 others(66): Show |
ARHGEF33 | ENSG00000214694.13 | transcript | ENST00000409978.7 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972369 | A | AACCTCCC others(42): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02886.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0203 a0001c0001t0002g0025 a0001c0001t0002g0204 |
4 | 280 | 0.0143 | 49 | c.-14 others(66): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARL4C_chr2_234488041_234502081 | 234501478 | T | TAGCCGAA others(42): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0007 | 1 | 468 | 0.0021 | 49 | c.-48 others(60): Show |
ARL4C | ENSG00000188042.8 | transcript | ENST00000339728.6 | protein_coding | 4398 | chr2 | TogoVar | |||||||
ARL6IP5_chr3_69079937_69111092 | 69110853 | A | AAAAAAAA others(42): Show |
downstream_gene_variant | MODIFIER | NA18964.hp2 NA19009.hp2 NA19077.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0057 a0001c0002t0002g0279 a0001c0002t0008g0257 |
3 | 434 | 0.0069 | 49 | c.*62 others(60): Show |
ARL6IP5 | ENSG00000144746.7 | transcript | ENST00000273258.4 | protein_coding | 4762 | chr3 | TogoVar | |||||||
ARL6IP5_chr3_69079937_69111092 | 69110853 | A | AAAAAAAA others(42): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0060 | 1 | 434 | 0.0023 | 49 | c.*62 others(60): Show |
ARL6IP5 | ENSG00000144746.7 | transcript | ENST00000273258.4 | protein_coding | 4762 | chr3 | TogoVar | |||||||
ARL6IP5_chr3_69079937_69111092 | 69110853 | A | AAAAAAAA others(42): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0274 | 1 | 434 | 0.0023 | 49 | c.*62 others(60): Show |
ARL6IP5 | ENSG00000144746.7 | transcript | ENST00000273258.4 | protein_coding | 4762 | chr3 | TogoVar | |||||||
ARL6IP5_chr3_69079937_69111092 | 69110853 | A | AAAAAAAA others(42): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 NA18995.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0266 a0001c0002t0008g0258 |
2 | 434 | 0.0046 | 49 | c.*62 others(60): Show |
ARL6IP5 | ENSG00000144746.7 | transcript | ENST00000273258.4 | protein_coding | 4762 | chr3 | TogoVar | |||||||
ARMC10_chr7_103070140_103104759 | 103099593 | T | TGTGTGTG others(42): Show |
3_prime_UTR_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0123 | 1 | 390 | 0.0026 | 49 | c.*10 others(60): Show |
ARMC10 | ENSG00000170632.14 | transcript | ENST00000323716.8 | protein_coding | 7/7 | 1041 | chr7 | TogoVar | ||||||
ARMC2_chr6_108843422_108979476 | 108881296 | C | CCCTCCCC others(42): Show |
intron_variant | MODIFIER | HG03540.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0090 a0001c0001t0007g0088 |
2 | 290 | 0.0069 | 49 | c.671 others(66): Show |
ARMC2 | ENSG00000118690.13 | transcript | ENST00000392644.9 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARRDC2_chr19_18003170_18019102 | 18016198 | G | GGGGAGGG others(42): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02145.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0010 a0002c0003t0004g0061 a0002c0003t0004g0084 |
6 | 414 | 0.0145 | 49 | c.*32 others(60): Show |
ARRDC2 | ENSG00000105643.11 | transcript | ENST00000222250.5 | protein_coding | 2097 | chr19 | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036855 | A | ATATATAA others(42): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 193 | 0.0052 | 49 | c.-48 others(60): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4615 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036861 | A | AAAATATT others(42): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(5): Show |
a0001a0006 | a0001c0002a0001c0015a0006c0014 | a0001c0002t0001a0001c0015t0007a0006c0014t0002 | a0001c0002t0001g0011 a0001c0002t0001g0019 a0001c0002t0001g0021 others(5): Show |
8 | 193 | 0.0415 | 49 | c.-48 others(60): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4609 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3036855 | A | ATATATAA others(42): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0182 | 1 | 248 | 0.0040 | 49 | c.*34 others(60): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2745 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3036855 | A | ATATATAA others(42): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0230 | 1 | 248 | 0.0040 | 49 | c.*34 others(60): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2745 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3036861 | A | AAAATATT others(42): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(7): Show |
a0001 | a0001c0002a0001c0014 | a0001c0002t0002a0001c0014t0002 | a0001c0002t0002g0102 a0001c0002t0002g0145 a0001c0002t0002g0146 others(7): Show |
10 | 248 | 0.0403 | 49 | c.*34 others(60): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2751 | chrX | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130072824 | T | TGTGTGTG others(42): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 308 | 0.0033 | 49 | c.270 others(68): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASB16_chr17_44165704_44184084 | 44180637 | A | ATCCGGGA others(42): Show |
downstream_gene_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 362 | 0.0028 | 49 | c.*22 others(60): Show |
ASB16 | ENSG00000161664.7 | transcript | ENST00000293414.6 | protein_coding | 1554 | chr17 | TogoVar | |||||||
ASB18_chr2_236188459_236269406 | 236202794 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 250 | 0.0040 | 49 | c.110 others(68): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 4/5 | chr2 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72198359 | A | AGGGGAGG others(42): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 216 | 0.0046 | 49 | c.311 others(66): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 4/9 | chr10 | TogoVar | |||||||
ATCAY_chr19_3875685_3933082 | 3908721 | C | CCCTCCCT others(42): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0174 | 1 | 384 | 0.0026 | 49 | c.647 others(64): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38334902 | T | TTTATAAT others(42): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0003 | a0003c0005 | a0003c0005t0028 | a0003c0005t0028g0006 | 1 | 236 | 0.0042 | 49 | c.363 others(66): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138718204 | G | GGCGGGGG others(42): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0036 | 1 | 376 | 0.0027 | 49 | c.214 others(68): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138718682 | G | GGTGCAGT others(42): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(17): Show |
a0001a0002a0006others(3): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0041 a0001c0001t0001g0151 a0001c0001t0001g0210 others(17): Show |
20 | 376 | 0.0532 | 49 | c.214 others(68): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar |