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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
USP32_chr17_60172327_60397133 | 60349601 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG02647.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0042a0001c0001t0001g0049others(6): Show | 9 | 152 | 0.0592 | -23 | c.59- others(38): Show |
USP32 | ENSG00000170832.13 | transcript | ENST00000300896.9 | protein_coding | 1/33 | chr17 | TogoVar | ||||||
USP33_chr1_77690987_77764852 | 77702141 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 318 | 0.0031 | -23 | c.240 others(40): Show |
USP33 | ENSG00000077254.14 | transcript | ENST00000370794.7 | protein_coding | 21/23 | chr1 | TogoVar | ||||||
USP3_chr15_63499593_63599633 | 63589953 | TGCACTAT others(16): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp2 HG01106.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0050 | a0001c0001t0003g0002a0001c0001t0003g0007a0001c0001t0003g0008others(7): Show | 12 | 234 | 0.0513 | -23 | c.139 others(40): Show |
USP3 | ENSG00000140455.17 | transcript | ENST00000380324.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
USP43_chr17_9640517_9734687 | 9681456 | AATATATT others(16): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 330 | 0.0030 | -23 | c.110 others(42): Show |
USP43 | ENSG00000154914.17 | transcript | ENST00000285199.12 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
USP46_chr4_52585960_52664301 | 52609898 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG02258.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0150a0001c0001t0006g0005 | 2 | 192 | 0.0104 | -23 | c.638 others(38): Show |
USP46 | ENSG00000109189.13 | transcript | ENST00000441222.8 | protein_coding | 5/8 | chr4 | TogoVar | ||||||
USP47_chr11_11836972_11966887 | 11871501 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02615.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0028a0001c0001t0035 | a0001c0001t0016g0158a0001c0001t0016g0159a0001c0001t0028g0057others(1): Show | 4 | 386 | 0.0104 | -23 | c.40- others(38): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
USP48_chr1_21673298_21788149 | 21765901 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | NA18984.hp2 NA19076.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0148a0001c0002t0001g0311 | 2 | 364 | 0.0055 | -23 | c.135 others(40): Show |
USP48 | ENSG00000090686.16 | transcript | ENST00000308271.14 | protein_coding | 1/26 | chr1 | TogoVar | ||||||
USP54_chr10_73492538_73596342 | 73569902 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 196 | 0.0051 | -23 | c.240 others(40): Show |
USP54 | ENSG00000166348.20 | transcript | ENST00000687698.1 | protein_coding | 4/23 | chr10 | TogoVar | ||||||
USP8_chr15_50419405_50519421 | 50485550 | ATTTTTTT others(16): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0028 | a0001c0001t0006g0331a0001c0001t0028g0330 | 2 | 382 | 0.0052 | -23 | c.189 others(42): Show |
USP8 | ENSG00000138592.14 | transcript | ENST00000307179.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
USP9X_chrX_41080445_41241579 | 41181435 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00597.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0030others(2): Show | a0001c0001t0003g0238a0001c0001t0003g0239a0001c0001t0003g0241others(53): Show | 56 | 293 | 0.1911 | -23 | c.314 others(42): Show |
USP9X | ENSG00000124486.15 | transcript | ENST00000378308.7 | protein_coding | 21/44 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
UTP20_chr12_101275105_101391618 | 101340937 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02723.hp1 others(1): Show |
a0001a0007 | a0001c0003a0007c0013 | a0001c0003t0001a0007c0013t0001 | a0001c0003t0001g0098a0007c0013t0001g0009a0007c0013t0001g0010others(1): Show | 4 | 356 | 0.0112 | -23 | c.410 others(40): Show |
UTP20 | ENSG00000120800.5 | transcript | ENST00000261637.5 | protein_coding | 32/61 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
UTRN_chr6_144280335_144858034 | 144635512 | TTCTTTTT others(16): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0015 | 1 | 128 | 0.0078 | -23 | c.748 others(44): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 51/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
UTRN_chr6_144280335_144858034 | 144635514 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01891.hp1 HG02976.hp1 others(5): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0006a0001c0002t0005a0001c0002t0012others(5): Show | a0001c0001t0006g0013a0001c0002t0005g0119a0001c0002t0012g0071others(5): Show | 8 | 128 | 0.0625 | -23 | c.748 others(44): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 51/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
UVSSA_chr4_1342208_1393049 | 1372750 | TGCACTCA others(16): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02717.hp2 |
a0004a0009 | a0004c0006a0009c0016 | a0004c0006t0012a0009c0016t0016 | a0004c0006t0012g0288a0009c0016t0016g0086 | 2 | 400 | 0.0050 | -23 | c.128 others(42): Show |
UVSSA | ENSG00000163945.19 | transcript | ENST00000389851.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
UVSSA_chr4_1342208_1393049 | 1384867 | CCAGGCTT others(16): Show |
C | intron_variant | MODIFIER | HG02040.hp1 HG03491.hp1 HG03492.hp1 |
a0007 | a0007c0011 | a0007c0011t0015 | a0007c0011t0015g0030a0007c0011t0015g0345 | 3 | 400 | 0.0075 | -23 | c.203 others(40): Show |
UVSSA | ENSG00000163945.19 | transcript | ENST00000389851.10 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
VAC14_chr16_70682439_70806158 | 70682896 | CACGGCCA others(16): Show |
C | downstream_gene_variant | MODIFIER | HG02922.hp2 HG03453.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0314a0001c0003t0002g0315 | 2 | 322 | 0.0062 | -23 | c.*50 others(34): Show |
VAC14 | ENSG00000103043.15 | transcript | ENST00000261776.10 | protein_coding | 4542 | chr16 | TogoVar | ||||||
VAV1_chr19_6767708_6862361 | 6844063 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 306 | 0.0033 | -23 | c.201 others(40): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
VAV2_chr9_133756894_133997324 | 133854110 | TACCCCTT others(16): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00642.hp2 others(61): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0006others(18): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(40): Show | a0001c0002t0001g0107a0001c0002t0002g0019a0001c0002t0003g0181others(61): Show | 64 | 200 | 0.3200 | -23 | c.380 others(40): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 3/29 | chr9 | TogoVar | ||||||
VAV2_chr9_133756894_133997324 | 133903180 | AGTGCCCC others(16): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02572.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0003a0001c0002t0036a0001c0003t0008others(1): Show | a0001c0002t0003g0181a0001c0002t0036g0089a0001c0003t0008g0099others(1): Show | 4 | 200 | 0.0200 | -23 | c.321 others(42): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 2/29 | chr9 | TogoVar | ||||||
VEGFC_chr4_176678538_176797922 | 176740463 | TATAACTA others(16): Show |
T | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0216 | 1 | 224 | 0.0045 | -23 | c.148 others(42): Show |
VEGFC | ENSG00000150630.4 | transcript | ENST00000618562.2 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
VEGFC_chr4_176678538_176797922 | 176777696 | CGGATCAC others(16): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02809.hp1 HG02965.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0142others(3): Show | 6 | 224 | 0.0268 | -23 | c.147 others(42): Show |
VEGFC | ENSG00000150630.4 | transcript | ENST00000618562.2 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
VEGFC_chr4_176678538_176797922 | 176795319 | AAACACAC others(16): Show |
A | upstream_gene_variant | MODIFIER | HG01255.hp1 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198a0001c0001t0002g0204 | 2 | 224 | 0.0089 | -23 | c.-30 others(34): Show |
VEGFC | ENSG00000150630.4 | transcript | ENST00000618562.2 | protein_coding | 2398 | chr4 | TogoVar | ||||||
VEPH1_chr3_157254742_157508416 | 157272380 | TTTCTTTC others(16): Show |
T | intron_variant | MODIFIER | NA19001.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0101 | 1 | 304 | 0.0033 | -23 | c.212 others(42): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
VGLL3_chr3_86932973_86996149 | 86995569 | TATATATA others(16): Show |
T | upstream_gene_variant | MODIFIER | NA18988.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0026 | a0001c0001t0005g0344a0001c0001t0026g0068 | 2 | 370 | 0.0054 | -23 | c.-48 others(34): Show |
VGLL3 | ENSG00000206538.9 | transcript | ENST00000398399.7 | protein_coding | 4421 | chr3 | TogoVar | ||||||
VGLL4_chr3_11551069_11648915 | 11553266 | TTCACCTC others(16): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(344): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(343): Show | 347 | 388 | 0.8943 | -23 | c.*52 others(34): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 2802 | chr3 | TogoVar | ||||||
VKORC1L1_chr7_65868074_65964558 | 65895471 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0026 | a0001c0001t0006g0007a0001c0001t0006g0008a0001c0001t0006g0327others(3): Show | 6 | 350 | 0.0171 | -23 | c.194 others(42): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
VKORC1L1_chr7_65868074_65964558 | 65895473 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG02155.hp2 HG02165.hp1 HG02300.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0017 | a0001c0001t0006g0324a0001c0001t0006g0325a0001c0001t0006g0329others(10): Show | 13 | 350 | 0.0371 | -23 | c.194 others(42): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
VKORC1L1_chr7_65868074_65964558 | 65895475 | AAAAAAAT others(16): Show |
A | intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0338 | 1 | 350 | 0.0029 | -23 | c.194 others(42): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
VKORC1L1_chr7_65868074_65964558 | 65895477 | AAAAATAT others(16): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0282 | 1 | 350 | 0.0029 | -23 | c.194 others(42): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
VKORC1L1_chr7_65868074_65964558 | 65958113 | ATTTCAGA others(16): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00609.hp1 HG02071.hp2 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0234a0001c0001t0019g0253 | 2 | 350 | 0.0057 | -23 | c.*38 others(34): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 3/3 | 3815 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
VMP1_chr17_59702654_59847255 | 59772950 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0133 | 1 | 286 | 0.0035 | -23 | c.583 others(38): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
VPS13A_chr9_77172534_77426537 | 77405705 | CTTTATGG others(16): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG02896.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0013a0001c0030 | a0001c0013t0017a0001c0030t0017 | a0001c0013t0017g0197a0001c0013t0017g0198a0001c0013t0017g0199others(1): Show | 4 | 348 | 0.0115 | -23 | c.927 others(40): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 69/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99464049 | CAGCAATT others(16): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG01891.hp1 others(5): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0006a0005c0022others(3): Show | a0001c0001t0001a0003c0006t0004a0005c0022t0004others(3): Show | a0001c0001t0001g0108a0003c0006t0004g0110a0003c0006t0004g0126others(5): Show | 8 | 134 | 0.0597 | -23 | c.344 others(42): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 23/61 | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99540051 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0007 | a0003c0007t0005 | a0003c0007t0005g0063 | 1 | 134 | 0.0075 | -23 | c.474 others(44): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99875818 | CTGCCACC others(16): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01099.hp1 HG01515.hp1 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0035a0001c0002t0009g0045 | 2 | 134 | 0.0149 | -23 | c.*17 others(32): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 62/62 | 177 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
VPS25_chr17_42768449_42784599 | 42784315 | TGGGCCGG others(16): Show |
T | downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 | 1 | 294 | 0.0034 | -23 | c.*52 others(34): Show |
VPS25 | ENSG00000131475.7 | transcript | ENST00000253794.7 | protein_coding | 4717 | chr17 | TogoVar | ||||||
VPS37B_chr12_122860330_122901124 | 122874947 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02622.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141a0001c0001t0002g0142a0001c0001t0002g0145 | 3 | 266 | 0.0113 | -23 | c.112 others(40): Show |
VPS37B | ENSG00000139722.7 | transcript | ENST00000267202.7 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
VPS41_chr7_38717974_38914191 | 38720487 | TATATATA others(16): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01069.hp2 HG01071.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0022 | a0001c0001t0006g0215a0001c0002t0022g0031a0001c0002t0022g0042others(1): Show | 4 | 278 | 0.0144 | -23 | c.*57 others(34): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2486 | chr7 | TogoVar | ||||||
VPS4A_chr16_69306350_69331939 | 69310070 | GTTTTTTT others(16): Show |
G | upstream_gene_variant | MODIFIER | HG01346.hp1 HG01361.hp2 HG01891.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0004 | a0001c0001t0005g0060a0001c0003t0004g0019a0001c0003t0004g0050others(9): Show | 13 | 366 | 0.0355 | -23 | c.-14 others(34): Show |
VPS4A | ENSG00000132612.16 | transcript | ENST00000254950.13 | protein_coding | 1279 | chr16 | TogoVar | ||||||
VPS52_chr6_33245278_33276876 | 33256463 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 325 | 0.0031 | -23 | c.179 others(42): Show |
VPS52 | ENSG00000223501.9 | transcript | ENST00000445902.3 | protein_coding | 17/19 | chr6 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 520834 | GCTTCACC others(16): Show |
G | intron_variant | MODIFIER | HG00621.hp2 NA18946.hp2 NA18960.hp1 others(3): Show |
a0001a0002a0004 | a0001c0002a0002c0003a0004c0008 | a0001c0002t0066a0001c0002t0072a0001c0002t0082others(3): Show | a0001c0002t0066g0070a0001c0002t0072g0071a0001c0002t0082g0069others(3): Show | 6 | 232 | 0.0259 | -23 | c.222 others(40): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 20/21 | chr17 | TogoVar | ||||||
VSX1_chr20_25070463_25087141 | 25083042 | AATAGAGT others(16): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 368 | 0.0027 | -23 | c.-96 others(32): Show |
VSX1 | ENSG00000100987.15 | transcript | ENST00000376709.9 | protein_coding | 902 | chr20 | TogoVar | ||||||
VTA1_chr6_142142263_142229685 | 142153455 | GGTCATAT others(16): Show |
G | intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 334 | 0.0030 | -23 | c.112 others(40): Show |
VTA1 | ENSG00000009844.16 | transcript | ENST00000367630.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112700118 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 168 | 0.0060 | -23 | c.560 others(42): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
VWA1_chr1_1430690_1447882 | 1443673 | CTTTTTTT others(16): Show |
C | downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0031 | a0001c0002t0031g0006 | 1 | 280 | 0.0036 | -23 | c.*38 others(34): Show |
VWA1 | ENSG00000179403.12 | transcript | ENST00000476993.2 | protein_coding | 792 | chr1 | TogoVar | ||||||
VWA7_chr6_31760590_31782328 | 31770422 | CCTCCCCA others(16): Show |
C | intron_variant | MODIFIER | HG03688.hp2 NA18945.hp1 NA18993.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0167a0002c0002t0001g0071a0002c0002t0001g0106others(2): Show | 5 | 423 | 0.0118 | -23 | c.108 others(40): Show |
VWA7 | ENSG00000204396.11 | transcript | ENST00000375688.5 | protein_coding | 7/16 | chr6 | TogoVar | ||||||
VWA8_chr13_41561835_41966109 | 41841805 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01070.hp1 HG01256.hp2 others(20): Show |
a0002a0005 | a0002c0002a0002c0013a0005c0005 | a0002c0002t0001a0002c0013t0001a0005c0005t0001 | a0002c0002t0001g0011a0002c0002t0001g0013a0002c0002t0001g0015others(20): Show | 23 | 250 | 0.0920 | -23 | c.142 others(42): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 12/44 | chr13 | TogoVar | ||||||
VWA8_chr13_41561835_41966109 | 41841807 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG03491.hp2 NA19066.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012a0002c0002t0001g0047a0002c0002t0001g0058 | 3 | 250 | 0.0120 | -23 | c.142 others(42): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 12/44 | chr13 | TogoVar | ||||||
VWA8_chr13_41561835_41966109 | 41841809 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG02486.hp1 HG03492.hp2 others(5): Show |
a0002a0010a0012 | a0002c0002a0010c0012a0012c0014 | a0002c0002t0001a0010c0012t0001a0012c0014t0001 | a0002c0002t0001g0026a0002c0002t0001g0032a0002c0002t0001g0038others(5): Show | 8 | 250 | 0.0320 | -23 | c.142 others(42): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 12/44 | chr13 | TogoVar | ||||||
VWF_chr12_5943877_6129670 | 5998487 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 NA18962.hp1 others(1): Show |
a0008a0009 | a0008c0008a0009c0014 | a0008c0008t0001a0009c0014t0001 | a0008c0008t0001g0031a0008c0008t0001g0196a0009c0014t0001g0099others(1): Show | 4 | 288 | 0.0139 | -23 | c.584 others(42): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 34/51 | chr12 | TogoVar |