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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UBE3C_chr7_157133926_157274370 | 157261306 | GAAAAAAA others(12): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02723.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0014 | a0001c0001t0013a0001c0002t0011a0001c0014t0028 | a0001c0001t0013g0318a0001c0002t0011g0315a0001c0002t0011g0316others(1): Show | 4 | 322 | 0.0124 | -19 | c.308 others(38): Show |
UBE3C | ENSG00000009335.19 | transcript | ENST00000348165.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
UBOX5_chr20_3102573_3164865 | 3109667 | CCACAGAC others(12): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0138 | 1 | 384 | 0.0026 | -19 | c.*42 others(28): Show |
UBOX5 | ENSG00000185019.17 | transcript | ENST00000217173.7 | protein_coding | 5/5 | 420 | chr20 | TogoVar | |||||
UBR1_chr15_42937897_43111038 | 42941308 | ATTTTTTT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(172): Show |
a0001a0002a0007others(5): Show | a0001c0001a0001c0002a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(172): Show | 175 | 276 | 0.6341 | -19 | c.*40 others(30): Show |
UBR1 | ENSG00000159459.12 | transcript | ENST00000290650.9 | protein_coding | 1588 | chr15 | TogoVar | ||||||
UBR2_chr6_42559029_42698505 | 42659544 | CACACACA others(12): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG03130.hp2 NA19240.hp1 |
a0002a0003 | a0002c0002a0003c0008 | a0002c0002t0017a0003c0008t0011a0003c0008t0027 | a0002c0002t0017g0050a0003c0008t0011g0341a0003c0008t0027g0339 | 3 | 342 | 0.0088 | -19 | c.324 others(34): Show |
UBR2 | ENSG00000024048.11 | transcript | ENST00000372901.2 | protein_coding | 29/46 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
UBR3_chr2_169822454_170089131 | 169866150 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02257.hp1 |
a0001 | a0001c0006 | a0001c0006t0014 | a0001c0006t0014g0189a0001c0006t0014g0190 | 2 | 324 | 0.0062 | -19 | c.546 others(36): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UBR3_chr2_169822454_170089131 | 169882340 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(178): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(18): Show | a0001c0001t0001g0010a0001c0001t0001g0013a0001c0001t0001g0014others(178): Show | 181 | 324 | 0.5586 | -19 | c.103 others(38): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 5/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UBR4_chr1_19069510_19215266 | 19166714 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01175.hp1 HG02293.hp2 others(7): Show |
a0001a0014 | a0001c0001a0001c0039a0014c0048 | a0001c0001t0001a0001c0039t0001a0014c0048t0001 | a0001c0001t0001g0215a0001c0001t0001g0226a0001c0001t0001g0231others(7): Show | 10 | 326 | 0.0307 | -19 | c.410 others(36): Show |
UBR4 | ENSG00000127481.15 | transcript | ENST00000375254.8 | protein_coding | 29/105 | chr1 | TogoVar | ||||||
UBR5_chr8_102247273_102417700 | 102370490 | CACAATGT others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01168.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0301a0001c0001t0001g0302a0001c0001t0001g0309others(18): Show | 21 | 328 | 0.0640 | -19 | c.63- others(34): Show |
UBR5 | ENSG00000104517.13 | transcript | ENST00000520539.6 | protein_coding | 1/58 | chr8 | TogoVar | ||||||
UBXN4_chr2_135736855_135790056 | 135785409 | ACCAACAG others(12): Show |
A | downstream_gene_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0094 | 1 | 370 | 0.0027 | -19 | c.*25 others(30): Show |
UBXN4 | ENSG00000144224.17 | transcript | ENST00000272638.14 | protein_coding | 354 | chr2 | TogoVar | ||||||
UBXN7_chr3_196342662_196437427 | 196376550 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 274 | 0.0037 | -19 | c.469 others(36): Show |
UBXN7 | ENSG00000163960.12 | transcript | ENST00000296328.9 | protein_coding | 5/10 | chr3 | TogoVar | ||||||
UBXN7_chr3_196342662_196437427 | 196407955 | AGGCATGG others(12): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0118a0001c0001t0028g0141 | 2 | 274 | 0.0073 | -19 | c.74- others(32): Show |
UBXN7 | ENSG00000163960.12 | transcript | ENST00000296328.9 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
UCHL3_chr13_75544791_75611020 | 75603263 | CAGCCATA others(12): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02723.hp1 HG02818.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0001g0082others(5): Show | 8 | 326 | 0.0245 | -19 | c.551 others(36): Show |
UCHL3 | ENSG00000118939.19 | transcript | ENST00000377595.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
UCHL5_chr1_193007254_193064360 | 193036317 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 308 | 0.0033 | -19 | c.247 others(36): Show |
UCHL5 | ENSG00000116750.14 | transcript | ENST00000367454.6 | protein_coding | 3/10 | chr1 | TogoVar | ||||||
UCK2_chr1_165822614_165916618 | 165880562 | TGGGGGTG others(12): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp2 others(87): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0052a0001c0001t0001g0100a0001c0001t0001g0142others(86): Show | 90 | 320 | 0.2813 | -19 | c.100 others(36): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
UCK2_chr1_165822614_165916618 | 165880567 | GTGTGTGT others(12): Show |
G | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0022 | 1 | 320 | 0.0031 | -19 | c.100 others(36): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63945823 | GTGCGTGG others(12): Show |
G | frameshift_variant | HIGH | NA18964.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0169 | 1 | 356 | 0.0028 | -19 | c.545 others(26): Show |
p.Ile others(5): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 4/15 | 607/1838 | 545/1647 | 182/548 | chr20 | TogoVar | ||
UCP2_chr11_73969672_73987843 | 73986518 | GTTTTTTT others(12): Show |
G | upstream_gene_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 420 | 0.0024 | -19 | c.-40 others(30): Show |
UCP2 | ENSG00000175567.11 | transcript | ENST00000663595.2 | protein_coding | 3676 | chr11 | TogoVar | ||||||
UFD1_chr22_19444911_19484193 | 19478563 | CCAGCAGG others(12): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01884.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0015a0001c0001t0001g0029others(11): Show | 33 | 402 | 0.0821 | -19 | c.3+5 others(30): Show |
UFD1 | ENSG00000070010.19 | transcript | ENST00000263202.15 | protein_coding | 1/11 | chr22 | TogoVar | ||||||
UGGT1_chr2_128086200_128200677 | 128169048 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0004 | a0001c0004t0063 | a0001c0004t0063g0157 | 1 | 332 | 0.0030 | -19 | c.292 others(38): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 26/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGGT2_chr13_95796580_96058401 | 95914612 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00558.hp1 others(78): Show |
a0003a0004a0005others(3): Show | a0003c0003a0003c0009a0003c0029others(7): Show | a0003c0003t0001a0003c0003t0004a0003c0009t0001others(9): Show | a0003c0003t0001g0018a0003c0003t0001g0019a0003c0003t0001g0020others(78): Show | 81 | 332 | 0.2440 | -19 | c.229 others(40): Show |
UGGT2 | ENSG00000102595.22 | transcript | ENST00000376747.8 | protein_coding | 20/38 | chr13 | TogoVar | ||||||
UGGT2_chr13_95796580_96058401 | 95930972 | TCCCACAG others(12): Show |
T | intron_variant | MODIFIER | HG02735.hp1 | a0015 | a0015c0028 | a0015c0028t0001 | a0015c0028t0001g0328 | 1 | 332 | 0.0030 | -19 | c.197 others(38): Show |
UGGT2 | ENSG00000102595.22 | transcript | ENST00000376747.8 | protein_coding | 17/38 | chr13 | TogoVar | ||||||
UGP2_chr2_63836896_63896560 | 63880787 | AGTGTGGT others(12): Show |
A | intron_variant | MODIFIER | HG00597.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155a0001c0001t0001g0206 | 2 | 334 | 0.0060 | -19 | c.256 others(36): Show |
UGP2 | ENSG00000169764.16 | transcript | ENST00000337130.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UHRF2_chr9_6408199_6512054 | 6428533 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 318 | 0.0031 | -19 | c.385 others(36): Show |
UHRF2 | ENSG00000147854.17 | transcript | ENST00000276893.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
UHRF2_chr9_6408199_6512054 | 6442458 | TTTTGTTT others(12): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0107 | 1 | 318 | 0.0031 | -19 | c.644 others(36): Show |
UHRF2 | ENSG00000147854.17 | transcript | ENST00000276893.10 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
UHRF2_chr9_6408199_6512054 | 6488251 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG01433.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0028a0001c0001t0001g0029others(34): Show | 37 | 318 | 0.1164 | -19 | c.149 others(38): Show |
UHRF2 | ENSG00000147854.17 | transcript | ENST00000276893.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
UIMC1_chr5_176900006_177011779 | 177005808 | CACTGGAG others(12): Show |
C | intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116 | 1 | 330 | 0.0030 | -19 | c.-9+ others(32): Show |
UIMC1 | ENSG00000087206.17 | transcript | ENST00000511320.6 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7643716 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(80): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0010a0001c0001t0001g0050a0001c0001t0001g0054others(79): Show | 83 | 250 | 0.3320 | -19 | c.-64 others(36): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
UMAD1_chr7_7635752_7884223 | 7743686 | GTATATGT others(12): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp2 others(125): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0081a0001c0001t0001g0086a0001c0001t0001g0102others(124): Show | 128 | 250 | 0.5120 | -19 | c.83- others(36): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
UMAD1_chr7_7635752_7884223 | 7847101 | AAAAATAT others(12): Show |
A | intron_variant | MODIFIER | HG01109.hp1 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0064 | a0001c0001t0006g0134a0001c0001t0064g0190 | 2 | 250 | 0.0080 | -19 | c.157 others(38): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
UMAD1_chr7_7635752_7884223 | 7847103 | AAATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0077 | 1 | 250 | 0.0040 | -19 | c.157 others(38): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
UMAD1_chr7_7635752_7884223 | 7847105 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG02559.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0024a0001c0001t0026a0001c0001t0061others(1): Show | a0001c0001t0024g0230a0001c0001t0026g0226a0001c0001t0061g0152others(1): Show | 4 | 250 | 0.0160 | -19 | c.157 others(38): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | chr7 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42077001 | GGGTGTGT others(12): Show |
G | intron_variant | MODIFIER | NA18949.hp1 | a0009 | a0009c0018 | a0009c0018t0018 | a0009c0018t0018g0291 | 1 | 400 | 0.0025 | -19 | c.319 others(34): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
UMODL1_chr21_42066317_42147996 | 42112285 | CACCTCCC others(12): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0120 | a0120c0165 | a0120c0165t0001 | a0120c0165t0001g0219 | 1 | 400 | 0.0025 | -19 | c.210 others(36): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
UMODL1_chr21_42066317_42147996 | 42112287 | CCTCCCCA others(12): Show |
C | intron_variant | MODIFIER | HG02135.hp1 NA18969.hp2 NA18995.hp1 |
a0008 | a0008c0026 | a0008c0026t0003 | a0008c0026t0003g0245a0008c0026t0003g0310a0008c0026t0003g0328 | 3 | 400 | 0.0075 | -19 | c.210 others(36): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
UNC13A_chr19_17596336_17693354 | 17631203 | CCTTCCTT others(12): Show |
C | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0019a0001c0004t0001g0128 | 2 | 320 | 0.0063 | -19 | c.342 others(36): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 28/43 | chr19 | TogoVar | ||||||
UNC13A_chr19_17596336_17693354 | 17668714 | CCTGACAT others(12): Show |
C | intron_variant | MODIFIER | NA18998.hp2 | a0002 | a0002c0026 | a0002c0026t0002 | a0002c0026t0002g0243 | 1 | 320 | 0.0031 | -19 | c.395 others(34): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 5/43 | chr19 | TogoVar | ||||||
UNC13B_chr9_35157009_35410335 | 35328655 | CCTTCCTT others(12): Show |
C | intron_variant | MODIFIER | NA19000.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0080 | 1 | 224 | 0.0045 | -19 | c.941 others(40): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 11/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
UNC13C_chr15_53973441_54633605 | 54172709 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG01109.hp1 NA18953.hp2 NA19064.hp1 |
a0001a0002a0012 | a0001c0001a0002c0019a0012c0031 | a0001c0001t0007a0002c0019t0054a0012c0031t0001 | a0001c0001t0007g0028a0002c0019t0054g0059a0012c0031t0001g0051 | 3 | 158 | 0.0190 | -19 | c.307 others(40): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 4/32 | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54548208 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01169.hp2 others(32): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0012others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(25): Show | a0001c0001t0001g0035a0001c0001t0002g0074a0001c0001t0002g0141others(32): Show | 35 | 158 | 0.2215 | -19 | c.582 others(38): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 27/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
UNC5A_chr5_176805559_176885898 | 176850950 | TCCAGTGC others(12): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0096a0001c0001t0008g0113 | 2 | 268 | 0.0075 | -19 | c.71- others(36): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
UNC5D_chr8_35230475_35801540 | 35335740 | GAAATGAG others(12): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 64 | 0.0156 | -19 | c.103 others(38): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | chr8 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93558593 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00558.hp1 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0028a0002c0003others(6): Show | a0001c0001t0001a0001c0028t0001a0002c0003t0001others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0027others(22): Show | 25 | 193 | 0.1295 | -19 | c.175 others(40): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 14/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
UNC79_chr14_93425939_93712876 | 93654472 | TAATGGCT others(12): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01255.hp2 HG02451.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0048others(11): Show | 14 | 193 | 0.0725 | -19 | c.661 others(36): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 40/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
UNK_chr17_75779806_75830799 | 75817717 | AGGCTGCA others(12): Show |
A | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0244 | 1 | 358 | 0.0028 | -19 | c.130 others(36): Show |
UNK | ENSG00000132478.10 | transcript | ENST00000589666.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
UPB1_chr22_24490332_24533390 | 24509361 | GAAAAAAA others(12): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(99): Show |
a0001 | a0001c0001a0001c0008a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0016others(90): Show | 102 | 352 | 0.2898 | -19 | c.365 others(36): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
UPK3BL2_chr7_102532919_102548696 | 102544127 | CAAAAAAA others(12): Show |
C | upstream_gene_variant | MODIFIER | NA19000.hp2 NA21309.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0024a0003c0004t0004 | a0001c0001t0024g0125a0003c0004t0004g0032 | 2 | 182 | 0.0110 | -19 | c.-51 others(28): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 432 | chr7 | TogoVar | ||||||
UQCRC2_chr16_21948361_21988660 | 21981802 | TGACTTGA others(12): Show |
T | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 362 | 0.0028 | -19 | c.127 others(38): Show |
UQCRC2 | ENSG00000140740.11 | transcript | ENST00000268379.9 | protein_coding | 13/13 | chr16 | TogoVar | ||||||
URI1_chr19_29937239_30021612 | 29985119 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01070.hp2 HG02004.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0049a0001c0001t0001g0165a0001c0001t0001g0189others(19): Show | 22 | 328 | 0.0671 | -19 | c.153 others(32): Show |
URI1 | ENSG00000105176.18 | transcript | ENST00000392271.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
USH1C_chr11_17488900_17549416 | 17548418 | CTTTTTTT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01069.hp1 HG01106.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0001others(4): Show | a0001c0001t0001g0307a0001c0003t0002g0068a0001c0004t0001g0215others(7): Show | 10 | 360 | 0.0278 | -19 | c.-41 others(30): Show |
USH1C | ENSG00000006611.17 | transcript | ENST00000005226.12 | protein_coding | 4003 | chr11 | TogoVar | ||||||
USH2A_chr1_215617891_216428448 | 215771579 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01192.hp1 others(3): Show |
a0010a0019a0025others(3): Show | a0010c0065a0019c0067a0025c0073others(3): Show | a0010c0065t0004a0019c0067t0001a0025c0073t0001others(3): Show | a0010c0065t0004g0074a0019c0067t0001g0055a0025c0073t0001g0054others(3): Show | 6 | 74 | 0.0811 | -19 | c.109 others(40): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 55/71 | chr1 | TogoVar |