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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CATSPERB_chr14_91575698_91737086 | 91619861 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG02135.hp2 NA18944.hp2 NA18969.hp2 others(2): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0007c0007 | a0001c0001t0001a0002c0003t0001a0007c0007t0001 | a0001c0001t0001g0075a0001c0001t0001g0107a0002c0003t0001g0143others(2): Show | 5 | 271 | 0.0185 | -20 | c.226 others(39): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 19/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91707575 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01071.hp2 others(25): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(25): Show | 28 | 271 | 0.1033 | -20 | c.466 others(35): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 6/26 | chr14 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5716259 | CATATATA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG01261.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194a0001c0001t0001g0210 | 2 | 336 | 0.0060 | -20 | c.-44 others(31): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4377 | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5751197 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(37): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0027others(7): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(9): Show | a0001c0001t0001g0089a0001c0001t0001g0162a0001c0001t0001g0220others(37): Show | 40 | 336 | 0.1191 | -20 | c.988 others(35): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5765405 | TATTCATT others(13): Show |
T | intron_variant | MODIFIER | HG02015.hp2 HG02257.hp2 HG02280.hp1 others(4): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0007others(2): Show | a0001c0001t0002a0002c0002t0001a0006c0007t0002others(2): Show | a0001c0001t0002g0107a0001c0001t0002g0147a0001c0001t0002g0226others(4): Show | 7 | 336 | 0.0208 | -20 | c.150 others(37): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244553630 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG02897.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0137 | 1 | 206 | 0.0049 | -20 | c.102 others(37): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244557532 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0125a0001c0001t0002g0099a0001c0001t0003g0180others(3): Show | 6 | 206 | 0.0291 | -20 | c.103 others(39): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244582910 | GATATATA others(13): Show |
G | intron_variant | MODIFIER | HG02523.hp1 HG03540.hp1 NA18943.hp1 others(1): Show |
a0001a0009 | a0001c0001a0001c0006a0009c0022 | a0001c0001t0001a0001c0001t0004a0001c0006t0002others(1): Show | a0001c0001t0001g0107a0001c0001t0004g0168a0001c0006t0002g0085others(1): Show | 4 | 206 | 0.0194 | -20 | c.201 others(37): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116523083 | AGAAGGAA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02155.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0002g0202 | 3 | 342 | 0.0088 | -20 | c.-19 others(31): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1952 | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116523131 | GGAAGGAA others(13): Show |
G | upstream_gene_variant | MODIFIER | HG01928.hp1 HG02055.hp1 HG03491.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0078a0001c0001t0002g0010a0001c0001t0002g0198others(6): Show | 9 | 342 | 0.0263 | -20 | c.-19 others(31): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1904 | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116533348 | TAAATAAA others(13): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0061 | 1 | 342 | 0.0029 | -20 | c.195 others(37): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116555518 | AAGAGAGA others(13): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0306 | 1 | 342 | 0.0029 | -20 | c.196 others(37): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116562940 | GAGGAAGG others(13): Show |
G | downstream_gene_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0129 | 1 | 342 | 0.0029 | -20 | c.*36 others(31): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1762 | chr7 | TogoVar | ||||||
CAVIN4_chr9_100573079_100593389 | 100583616 | TATTCATT others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(93): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0003others(10): Show | a0001c0001t0001g0012a0001c0001t0012g0012a0001c0002t0003g0003others(17): Show | 96 | 382 | 0.2513 | -20 | c.409 others(37): Show |
CAVIN4 | ENSG00000170681.7 | transcript | ENST00000307584.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CBARP_chr19_1223287_1243005 | 1228218 | GGACCCTC others(13): Show |
G | downstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | -20 | c.*94 others(29): Show |
CBARP | ENSG00000099625.14 | transcript | ENST00000650044.2 | protein_coding | 68 | chr19 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33544945 | CAGAATAG others(13): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(5): Show | a0001c0001t0001g0159a0001c0001t0001g0220a0001c0001t0001g0224others(28): Show | 31 | 298 | 0.1040 | -20 | c.34+ others(37): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33616078 | GAGATAGA others(13): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp2 HG01952.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0109a0001c0001t0004g0037a0001c0001t0004g0038others(10): Show | 13 | 298 | 0.0436 | -20 | c.421 others(37): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33642110 | TTTTTTTT others(13): Show |
T | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 298 | 0.0034 | -20 | c.148 others(39): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33643753 | CTATATAT others(13): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG03098.hp1 HG03209.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0001t0005a0001c0002t0002others(1): Show | a0001c0001t0003g0077a0001c0001t0003g0100a0001c0001t0005g0138others(3): Show | 6 | 298 | 0.0201 | -20 | c.148 others(37): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T3_chr16_88869858_88982207 | 88964909 | TATCCATC others(13): Show |
T | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 284 | 0.0035 | -20 | c.151 others(39): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88981664 | ACCAAAAT others(13): Show |
A | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 284 | 0.0035 | -20 | c.-48 others(31): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 4458 | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67075197 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0112a0001c0001t0002g0004a0001c0001t0002g0005others(22): Show | 25 | 212 | 0.1179 | -20 | c.400 others(37): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CBLB_chr3_105650461_105874012 | 105829666 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0005 | 1 | 380 | 0.0026 | -20 | c.419 others(39): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44776261 | TCTGACCA others(13): Show |
T | upstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 344 | 0.0029 | -20 | c.-16 others(31): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 1628 | chr19 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44785532 | GTAGATAG others(13): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG02886.hp2 others(3): Show |
a0000a0001 | a0000c0002a0001c0001a0001c0006others(1): Show | a0000c0002t0001a0001c0001t0001a0001c0006t0001others(1): Show | a0000c0002t0001g0044a0001c0001t0001g0045a0001c0006t0001g0047others(3): Show | 6 | 344 | 0.0174 | -20 | c.917 others(37): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CBLIF_chr11_59824273_59850499 | 59834240 | TTTTCTTT others(13): Show |
T | intron_variant | MODIFIER | HG01943.hp2 HG02080.hp1 NA18950.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0108a0001c0001t0001g0163a0001c0003t0001g0143others(1): Show | 4 | 342 | 0.0117 | -20 | c.107 others(39): Show |
CBLIF | ENSG00000134812.8 | transcript | ENST00000257248.3 | protein_coding | 7/8 | chr11 | TogoVar | ||||||
CBLL1_chr7_107739142_107766667 | 107764446 | TTGTGTGT others(13): Show |
T | downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 432 | 0.0023 | -20 | c.*52 others(31): Show |
CBLL1 | ENSG00000105879.13 | transcript | ENST00000440859.8 | protein_coding | 2780 | chr7 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119216339 | AATTTATT others(13): Show |
A | intron_variant | MODIFIER | HG02129.hp1 NA18980.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0312a0002c0003t0002g0313 | 2 | 364 | 0.0055 | -20 | c.195 others(37): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CBL_chr11_119201339_119313149 | 119245956 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG03453.hp2 HG04199.hp1 |
a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0013a0001c0004t0015g0014a0001c0004t0015g0016 | 3 | 364 | 0.0082 | -20 | c.443 others(39): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CBR3_chr21_36130079_36151562 | 36137503 | AAAGGAAG others(13): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02145.hp1 HG02257.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0171a0001c0001t0001g0199a0001c0004t0001g0023others(10): Show | 15 | 424 | 0.0354 | -20 | c.290 others(35): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CBX1_chr17_48065059_48106478 | 48080945 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG02886.hp1 HG02970.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0354a0001c0001t0001g0380a0001c0001t0002g0014others(4): Show | 7 | 396 | 0.0177 | -20 | c.-37 others(37): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CBX1_chr17_48065059_48106478 | 48080947 | AAAAAATA others(13): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018a0001c0001t0002g0027 | 2 | 396 | 0.0051 | -20 | c.-37 others(37): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CBX1_chr17_48065059_48106478 | 48080949 | AAAATATA others(13): Show |
A | intron_variant | MODIFIER | HG01169.hp2 HG01516.hp2 HG01517.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012a0001c0001t0002g0034a0001c0001t0002g0036others(1): Show | 4 | 396 | 0.0101 | -20 | c.-37 others(37): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CBX1_chr17_48065059_48106478 | 48080951 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 396 | 0.0025 | -20 | c.-37 others(37): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CBX1_chr17_48065059_48106478 | 48080975 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02451.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015a0001c0001t0002g0016a0001c0001t0002g0037others(3): Show | 6 | 396 | 0.0152 | -20 | c.-37 others(37): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CC2D1A_chr19_13901201_13935879 | 13926027 | TGTATATA others(13): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01433.hp1 others(3): Show |
a0001a0024 | a0001c0002a0024c0018 | a0001c0002t0001a0001c0002t0002a0024c0018t0001 | a0001c0002t0001g0163a0001c0002t0001g0206a0001c0002t0002g0181others(3): Show | 6 | 370 | 0.0162 | -20 | c.194 others(37): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 17/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CC2D2A_chr4_15464882_15606552 | 15470679 | CTCTCTCT others(13): Show |
C | intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0068 | 1 | 344 | 0.0029 | -20 | c.-19 others(35): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CC2D2A_chr4_15464882_15606552 | 15470681 | CTCTCTCT others(13): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 344 | 0.0029 | -20 | c.-19 others(35): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CC2D2A_chr4_15464882_15606552 | 15470683 | CTCTCTCT others(13): Show |
C | intron_variant | MODIFIER | HG02145.hp1 NA18954.hp2 NA18974.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0130a0001c0001t0002g0131a0001c0002t0002g0128others(1): Show | 4 | 344 | 0.0116 | -20 | c.-19 others(35): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CC2D2A_chr4_15464882_15606552 | 15470685 | CTCTCTAT others(13): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG01070.hp2 others(11): Show |
a0001a0003a0014 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0166a0001c0001t0002g0167others(11): Show | 14 | 344 | 0.0407 | -20 | c.-19 others(35): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CC2D2A_chr4_15464882_15606552 | 15470687 | CTCTATAT others(13): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG03927.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0201a0001c0004t0002g0202 | 2 | 344 | 0.0058 | -20 | c.-19 others(35): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CC2D2A_chr4_15464882_15606552 | 15470689 | CTATATAT others(13): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG02055.hp1 HG02148.hp1 |
a0001a0003 | a0001c0001a0001c0004a0003c0007 | a0001c0001t0001a0001c0004t0002a0003c0007t0002 | a0001c0001t0001g0235a0001c0004t0002g0256a0003c0007t0002g0236 | 3 | 344 | 0.0087 | -20 | c.-19 others(35): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CC2D2B_chr10_95902975_96038745 | 95993940 | GTGTATGT others(13): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02572.hp2 others(5): Show |
a0002a0005a0012others(1): Show | a0002c0002a0005c0006a0012c0015others(1): Show | a0002c0002t0001a0005c0006t0001a0012c0015t0001others(1): Show | a0002c0002t0001g0009a0002c0002t0001g0027a0005c0006t0001g0208others(5): Show | 8 | 312 | 0.0256 | -20 | c.264 others(39): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CC2D2B_chr10_95902975_96038745 | 96029241 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG01952.hp2 HG02135.hp1 others(8): Show |
a0002a0004a0006others(2): Show | a0002c0002a0004c0004a0006c0008others(2): Show | a0002c0002t0001a0004c0004t0001a0006c0008t0001others(2): Show | a0002c0002t0001g0010a0002c0002t0001g0012a0002c0002t0001g0048others(8): Show | 11 | 312 | 0.0353 | -20 | c.412 others(39): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 34/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CC2D2B_chr10_95902975_96038745 | 96029266 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00609.hp2 others(23): Show |
a0001a0003a0005others(8): Show | a0001c0001a0001c0007a0003c0003others(11): Show | a0001c0001t0001a0001c0007t0001a0003c0003t0001others(11): Show | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0036others(23): Show | 26 | 312 | 0.0833 | -20 | c.412 others(39): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 34/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCAR1_chr10_68716239_68797377 | 68717541 | CCTCTCCC others(13): Show |
C | upstream_gene_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 360 | 0.0028 | -20 | c.-37 others(31): Show |
CCAR1 | ENSG00000060339.14 | transcript | ENST00000265872.11 | protein_coding | 3697 | chr10 | TogoVar | ||||||
CCAR1_chr10_68716239_68797377 | 68752883 | AATAGATA others(13): Show |
A | intron_variant | MODIFIER | HG00280.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172a0001c0001t0001g0325 | 2 | 360 | 0.0056 | -20 | c.111 others(37): Show |
CCAR1 | ENSG00000060339.14 | transcript | ENST00000265872.11 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCBE1_chr18_59425939_59702423 | 59547035 | AAGAGAGG others(13): Show |
A | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0190 | 1 | 242 | 0.0041 | -20 | c.213 others(39): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59583668 | TGTGTGTG others(13): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0023others(1): Show | a0001c0001t0001g0017a0001c0001t0003g0176a0001c0001t0023g0192others(2): Show | 5 | 242 | 0.0207 | -20 | c.213 others(41): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59658348 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0062 | 1 | 242 | 0.0041 | -20 | c.212 others(39): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar |