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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRIM1_chr2_36350778_36556135 | 36463766 | GAGCCAGC others(2): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02886.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0004a0001c0025 | a0001c0004t0023a0001c0025t0046 | a0001c0004t0023g0036a0001c0004t0023g0065a0001c0004t0023g0240others(1): Show | 4 | 324 | 0.0124 | -9 | c.870 others(24): Show |
CRIM1 | ENSG00000150938.10 | transcript | ENST00000280527.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CRIM1_chr2_36350778_36556135 | 36544331 | ACAGCAGC others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02886.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0004a0001c0025 | a0001c0004t0023a0001c0025t0046 | a0001c0004t0023g0036a0001c0004t0023g0065a0001c0004t0023g0240others(1): Show | 4 | 324 | 0.0124 | -9 | c.262 others(24): Show |
CRIM1 | ENSG00000150938.10 | transcript | ENST00000280527.7 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CRISP2_chr6_49687359_49718543 | 49702139 | CTATATAT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00621.hp1 others(44): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0001c0001t0002a0007c0009t0001 | a0001c0001t0001g0044a0001c0001t0001g0062a0001c0001t0001g0069others(26): Show | 47 | 410 | 0.1146 | -9 | c.67- others(24): Show |
CRISP2 | ENSG00000124490.14 | transcript | ENST00000339139.5 | protein_coding | 4/9 | chr6 | TogoVar | ||||||
CRISP3_chr6_49722376_49749388 | 49725599 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02602.hp1 HG02615.hp2 HG02717.hp1 others(3): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0002t0010a0002c0005t0008 | a0002c0002t0001g0045a0002c0002t0001g0062a0002c0002t0001g0063others(3): Show | 6 | 400 | 0.0150 | -9 | c.*31 others(20): Show |
CRISP3 | ENSG00000096006.12 | transcript | ENST00000263045.9 | protein_coding | 1776 | chr6 | TogoVar | ||||||
CRISPLD2_chr16_84814985_84914508 | 84912916 | CCTGGGAT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 NA18522.hp1 |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0066a0003c0007t0026 | a0001c0002t0066g0197a0003c0007t0026g0162a0003c0007t0026g0163 | 3 | 380 | 0.0079 | -9 | c.*62 others(20): Show |
CRISPLD2 | ENSG00000103196.12 | transcript | ENST00000262424.10 | protein_coding | 3409 | chr16 | TogoVar | ||||||
CRKL_chr22_20912407_20958747 | 20922006 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG01074.hp2 HG01123.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0026others(4): Show | a0001c0001t0003g0002a0001c0001t0003g0068a0001c0001t0003g0069others(24): Show | 28 | 370 | 0.0757 | -9 | c.311 others(26): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRKL_chr22_20912407_20958747 | 20953424 | AAACAACA others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01074.hp2 HG01891.hp1 HG02145.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0030 | a0001c0001t0004g0004a0001c0001t0004g0005a0001c0001t0004g0141others(16): Show | 21 | 370 | 0.0568 | -9 | c.*35 others(20): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 3/3 | 3599 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
CRLF2_chrX_1185490_1217649 | 1200739 | ATAGATAA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(92): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(29): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0027others(92): Show | 95 | 167 | 0.5689 | -9 | c.483 others(26): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 4/7 | chrX | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1205742 | CTTATGGT others(2): Show |
C | intron_variant | MODIFIER | HG01169.hp2 | a0003 | a0003c0016 | a0003c0016t0002 | a0003c0016t0002g0137 | 1 | 167 | 0.0060 | -9 | c.349 others(24): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 3/7 | chrX | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1213279 | CCCCTTCC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG03041.hp2 | a0005 | a0005c0026 | a0005c0026t0002 | a0005c0026t0002g0102 | 1 | 167 | 0.0060 | -9 | c.-65 others(18): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 631 | chrX | TogoVar | ||||||
CRLF3_chr17_30777684_30829692 | 30777688 | GTTAATAT others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00642.hp2 others(108): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0023others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0083a0001c0001t0001g0084others(104): Show | 111 | 324 | 0.3426 | -9 | c.*64 others(20): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 4995 | chr17 | TogoVar | ||||||
CRLF3_chr17_30777684_30829692 | 30781432 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02074.hp1 HG02486.hp2 HG02523.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0090a0002c0003t0003g0113a0002c0003t0003g0114others(7): Show | 10 | 324 | 0.0309 | -9 | c.*27 others(20): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 1251 | chr17 | TogoVar | ||||||
CRLF3_chr17_30777684_30829692 | 30807517 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG01358.hp2 HG01981.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0009others(1): Show | a0001c0001t0001g0236a0001c0002t0002g0014a0001c0002t0002g0037others(3): Show | 6 | 324 | 0.0185 | -9 | c.130 others(26): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
CRMP1_chr4_5815764_5898086 | 5846757 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(62): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(9): Show | a0001c0001t0001g0071a0001c0001t0001g0074a0001c0001t0001g0090others(60): Show | 65 | 314 | 0.2070 | -9 | c.963 others(26): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 6/13 | chr4 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240901387 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01496.hp1 HG01884.hp2 HG01891.hp1 others(8): Show |
a0001a0006a0008others(4): Show | a0001c0001a0001c0024a0006c0007others(5): Show | a0001c0001t0004a0001c0024t0002a0006c0007t0001others(6): Show | a0001c0001t0004g0303a0001c0001t0004g0319a0001c0024t0002g0238others(8): Show | 11 | 350 | 0.0314 | -9 | c.-51 others(20): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4948 | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240984673 | CCACCACA others(2): Show |
C | intron_variant | MODIFIER | NA18967.hp1 NA18994.hp1 NA19004.hp2 others(1): Show |
a0002a0003a0021 | a0002c0002a0002c0011a0003c0003others(1): Show | a0002c0002t0001a0002c0011t0002a0003c0003t0001others(1): Show | a0002c0002t0001g0120a0002c0011t0002g0334a0003c0003t0001g0033others(1): Show | 4 | 350 | 0.0114 | -9 | c.455 others(28): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240985202 | TCCACCAC others(2): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG02004.hp2 HG02129.hp1 others(19): Show |
a0001a0005a0007others(4): Show | a0001c0001a0001c0022a0005c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0022t0002others(7): Show | a0001c0001t0001g0082a0001c0001t0001g0155a0001c0001t0001g0156others(19): Show | 22 | 350 | 0.0629 | -9 | c.455 others(28): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240985568 | ACACACCC others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00733.hp1 others(68): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0024a0001c0060others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0095a0001c0001t0001g0126a0001c0001t0001g0127others(67): Show | 71 | 350 | 0.2029 | -9 | c.455 others(28): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240985650 | ACACACCC others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(35): Show |
a0001a0002a0003others(12): Show | a0001c0020a0002c0002a0002c0012others(16): Show | a0001c0020t0001a0001c0020t0002a0002c0002t0001others(18): Show | a0001c0020t0001g0129a0001c0020t0002g0263a0002c0002t0001g0167others(35): Show | 38 | 350 | 0.1086 | -9 | c.455 others(28): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CRPPA_chr7_16082525_16426538 | 16340607 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00642.hp2 others(49): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0092a0001c0001t0001g0115a0001c0001t0001g0127others(49): Show | 52 | 290 | 0.1793 | -9 | c.685 others(28): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 3/9 | chr7 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 97997230 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG02055.hp2 HG03486.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0137a0001c0001t0001g0183a0001c0003t0001g0031 | 3 | 204 | 0.0147 | -9 | c.224 others(28): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98018199 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02109.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0038a0001c0001t0001g0041a0001c0001t0001g0047others(13): Show | 16 | 204 | 0.0784 | -9 | c.25- others(24): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
CRX_chr19_47816937_47848324 | 47848203 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01891.hp2 others(10): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0008a0001c0001t0027a0001c0001t0028others(3): Show | a0001c0001t0008g0181a0001c0001t0008g0183a0001c0001t0008g0185others(10): Show | 13 | 344 | 0.0378 | -9 | c.*82 others(20): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 4880 | chr19 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 106988017 | AAAACTGG others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(103): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(97): Show | 106 | 320 | 0.3313 | -9 | c.*39 others(20): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 3346 | chr12 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107009562 | ACATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01192.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0047a0001c0001t0001g0048others(9): Show | 13 | 320 | 0.0406 | -9 | c.268 others(26): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 2/12 | chr12 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107052183 | ATACCCAG others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(95): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0009a0001c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(90): Show | 98 | 320 | 0.3063 | -9 | c.159 others(28): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107073138 | TGGGAAAG others(2): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01884.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013 | a0001c0001t0004g0007a0001c0001t0004g0156a0001c0001t0004g0161others(8): Show | 12 | 320 | 0.0375 | -9 | c.158 others(28): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107083021 | TCCCTCAG others(2): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02027.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0152a0001c0001t0008g0169a0001c0001t0008g0170 | 3 | 320 | 0.0094 | -9 | c.158 others(26): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106552582 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02280.hp1 others(12): Show |
a0002a0007a0018others(6): Show | a0002c0003a0007c0007a0018c0037others(8): Show | a0002c0003t0003a0007c0007t0003a0018c0037t0001others(8): Show | a0002c0003t0003g0223a0002c0003t0003g0224a0007c0007t0003g0072others(12): Show | 15 | 272 | 0.0552 | -9 | c.547 others(26): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYL1_chr13_20398669_20530857 | 20460511 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00609.hp2 others(55): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0033a0001c0001t0001g0038a0001c0001t0001g0053others(55): Show | 58 | 250 | 0.2320 | -9 | c.277 others(28): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20508867 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG00673.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0056a0001c0001t0001g0058a0001c0001t0001g0059others(36): Show | 39 | 250 | 0.1560 | -9 | c.149 others(26): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20529996 | GGCTGTTC others(2): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0091others(8): Show | 11 | 250 | 0.0440 | -9 | c.-42 others(20): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 4140 | chr13 | TogoVar | ||||||
CRYZ_chr1_74700486_74738050 | 74702929 | AGTGTGTG others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01981.hp2 HG02257.hp2 HG02559.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0006a0001c0006t0010a0002c0003t0006 | a0001c0001t0006g0122a0001c0001t0006g0176a0001c0006t0010g0046others(2): Show | 5 | 372 | 0.0134 | -9 | c.*33 others(20): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 2556 | chr1 | TogoVar | ||||||
CSAG2_chrX_152703261_152714273 | 152703436 | CTGCTTAC others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 211 | 0.0047 | -9 | c.*51 others(20): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 4824 | chrX | TogoVar | ||||||
CSDE1_chr1_114711916_114762984 | 114753290 | TGAAACTC others(2): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG01891.hp2 HG02257.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0017a0001c0002t0001others(1): Show | a0001c0001t0001g0203a0001c0001t0001g0204a0001c0001t0017g0045others(7): Show | 12 | 328 | 0.0366 | -9 | c.-38 others(28): Show |
CSDE1 | ENSG00000009307.17 | transcript | ENST00000358528.9 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49053147 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00609.hp2 others(81): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0011a0001c0001t0001g0136a0001c0001t0001g0137others(81): Show | 84 | 386 | 0.2176 | -9 | c.-11 others(26): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49087022 | TATGCTTG others(2): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01934.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243a0001c0001t0001g0244a0001c0001t0001g0245others(30): Show | 33 | 386 | 0.0855 | -9 | c.172 others(26): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49098322 | TTTGTTGT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(141): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0265others(137): Show | 144 | 386 | 0.3731 | -9 | c.*18 others(20): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1374 | chr20 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1269643 | AAAAGAGA others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02622.hp2 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0010 | a0001c0001t0002a0002c0003t0005a0004c0010t0006 | a0001c0001t0002g0031a0001c0001t0002g0032a0002c0003t0005g0137others(1): Show | 4 | 159 | 0.0252 | -9 | c.-91 others(24): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1280865 | CCTCCTCC others(2): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0060a0001c0001t0002g0061 | 2 | 159 | 0.0126 | -9 | c.-26 others(26): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1280871 | CCTTCTCC others(2): Show |
C | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0154 | 1 | 159 | 0.0063 | -9 | c.-26 others(26): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1285701 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG03453.hp2 HG03540.hp2 |
a0002 | a0002c0003a0002c0006 | a0002c0003t0001a0002c0006t0005 | a0002c0003t0001g0003a0002c0006t0005g0028 | 2 | 159 | 0.0126 | -9 | c.77- others(20): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1301155 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02886.hp2 HG02897.hp1 |
a0001a0002a0008 | a0001c0001a0002c0006a0008c0016 | a0001c0001t0013a0002c0006t0002a0008c0016t0009 | a0001c0001t0013g0004a0002c0006t0002g0126a0008c0016t0009g0015 | 3 | 159 | 0.0189 | -9 | c.946 others(24): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSGALNACT1_chr8_19399161_19762277 | 19618648 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01192.hp1 HG01261.hp2 others(7): Show |
a0001a0010a0013 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0017a0001c0002t0004a0001c0002t0022others(6): Show | a0001c0001t0017g0165a0001c0002t0004g0144a0001c0002t0004g0153others(7): Show | 10 | 238 | 0.0420 | -9 | c.-39 others(30): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19716612 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG03139.hp1 HG03486.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0002t0025a0002c0003t0005others(2): Show | a0001c0001t0002g0146a0001c0002t0025g0001a0002c0003t0005g0190others(2): Show | 5 | 238 | 0.0210 | -9 | c.-39 others(30): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3155359 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG02056.hp1 HG02451.hp1 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0050a0001c0093others(7): Show | a0001c0002t0002a0001c0002t0061a0001c0050t0053others(8): Show | a0001c0002t0002g0083a0001c0002t0061g0069a0001c0050t0053g0120others(8): Show | 11 | 126 | 0.0873 | -9 | c.591 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 39/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3309114 | CCCTCTAG others(2): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 NA19240.hp1 |
a0001a0007 | a0001c0085a0001c0115a0007c0029 | a0001c0085t0020a0001c0115t0042a0007c0029t0011 | a0001c0085t0020g0060a0001c0115t0042g0055a0007c0029t0011g0054 | 3 | 126 | 0.0238 | -9 | c.363 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 23/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3394021 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01261.hp1 HG02056.hp1 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0108a0002c0037others(6): Show | a0001c0002t0002a0001c0002t0028a0001c0002t0061others(8): Show | a0001c0002t0002g0083a0001c0002t0028g0005a0001c0002t0061g0069others(8): Show | 11 | 126 | 0.0873 | -9 | c.259 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 17/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3439301 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01884.hp2 HG02056.hp2 others(16): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0006a0001c0026others(15): Show | a0001c0004t0020a0001c0004t0063a0001c0006t0002others(16): Show | a0001c0004t0020g0086a0001c0004t0063g0095a0001c0006t0002g0109others(16): Show | 19 | 126 | 0.1508 | -9 | c.156 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3511763 | ATAACATA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01123.hp1 others(19): Show |
a0001a0002a0008others(6): Show | a0001c0001a0001c0005a0001c0006others(18): Show | a0001c0001t0002a0001c0005t0007a0001c0006t0060others(18): Show | a0001c0001t0002g0102a0001c0001t0002g0125a0001c0005t0007g0070others(19): Show | 22 | 126 | 0.1746 | -9 | c.134 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar |