view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRY1_chr12_106986364_107098549 | 107009583 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(71): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(3): Show | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0235others(69): Show | 74 | 320 | 0.2313 | -20 | c.268 others(37): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 2/12 | chr12 | TogoVar | |||||||
CRY1_chr12_106986364_107098549 | 107098202 | AAAAGGAA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG01168.hp2 HG01884.hp2 HG02083.hp1 others(26): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0001t0001g0057others(26): Show | 29 | 320 | 0.0906 | -20 | c.-52 others(31): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 4654 | chr12 | TogoVar | |||||||
CRY2_chr11_45842475_45888244 | 45844931 | TAAAAAAA others(13): Show |
T | upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165 | 1 | 368 | 0.0027 | -20 | c.-25 others(31): Show |
CRY2 | ENSG00000121671.12 | transcript | ENST00000616080.2 | protein_coding | 2543 | chr11 | TogoVar | |||||||
CRYBA4_chr22_26616963_26635669 | 26621063 | AGTATGTA others(13): Show |
A | upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 402 | 0.0025 | -20 | c.-93 others(29): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 899 | chr22 | TogoVar | |||||||
CRYBA4_chr22_26616963_26635669 | 26627359 | CCTTTCTT others(13): Show |
C | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 402 | 0.0025 | -20 | c.301 others(35): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26627488 | TTTTCTTT others(13): Show |
T | intron_variant | MODIFIER | HG00738.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253a0001c0001t0001g0256 | 2 | 402 | 0.0050 | -20 | c.301 others(35): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218732 | GAGGGGAG others(13): Show |
G | upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 464 | 0.0022 | -20 | c.-96 others(29): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 906 | chr22 | TogoVar | |||||||
CRYBB2_chr22_25214639_25236869 | 25218736 | GGAGAGAG others(13): Show |
G | upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 464 | 0.0022 | -20 | c.-95 others(29): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 902 | chr22 | TogoVar | |||||||
CRYBB2_chr22_25214639_25236869 | 25218763 | GAGAGAGA others(13): Show |
G | upstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 464 | 0.0022 | -20 | c.-92 others(29): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 875 | chr22 | TogoVar | |||||||
CRYBB3_chr22_25194858_25212359 | 25207830 | TCATCCAT others(13): Show |
T | downstream_gene_variant | MODIFIER | HG02015.hp2 HG02559.hp1 HG02615.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0091a0002c0002t0001g0043a0004c0004t0001g0024 | 5 | 454 | 0.0110 | -20 | c.*61 others(29): Show |
CRYBB3 | ENSG00000100053.10 | transcript | ENST00000215855.7 | protein_coding | 472 | chr22 | TogoVar | |||||||
CRYBG1_chr6_106355717_106577017 | 106358171 | TTTTATAT others(13): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp2 others(14): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0009a0001c0067others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0009t0001others(7): Show | a0001c0001t0001g0012a0001c0001t0001g0020a0001c0001t0001g0030others(14): Show | 17 | 272 | 0.0625 | -20 | c.-27 others(31): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2545 | chr6 | TogoVar | |||||||
CRYBG1_chr6_106355717_106577017 | 106391952 | TGTGTGTG others(13): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02717.hp2 |
a0015a0027 | a0015c0018a0027c0042 | a0015c0018t0002a0027c0042t0001 | a0015c0018t0002g0263a0027c0042t0001g0088 | 2 | 272 | 0.0074 | -20 | c.173 others(39): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106433739 | ATATATGT others(13): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00735.hp2 others(20): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0009a0002c0003others(16): Show | a0001c0001t0001a0001c0009t0001a0002c0003t0006others(18): Show | a0001c0001t0001g0090a0001c0001t0001g0131a0001c0009t0001g0023others(20): Show | 23 | 272 | 0.0846 | -20 | c.174 others(39): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106542608 | CATTTTAT others(13): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(18): Show |
a0004a0007a0009others(12): Show | a0004c0057a0007c0007a0009c0012others(14): Show | a0004c0057t0002a0007c0007t0003a0009c0012t0002others(14): Show | a0004c0057t0002g0171a0007c0007t0003g0072a0007c0007t0003g0270others(18): Show | 21 | 272 | 0.0772 | -20 | c.488 others(37): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CSDC2_chr22_41556010_41581666 | 41572339 | TCCATCCA others(13): Show |
T | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 288 | 0.0035 | -20 | c.176 others(35): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CSDC2_chr22_41556010_41581666 | 41572343 | TCCACCCA others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00597.hp1 others(91): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0031a0001c0001t0001g0107others(62): Show | 94 | 288 | 0.3264 | -20 | c.176 others(35): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CSDC2_chr22_41556010_41581666 | 41572387 | CCCATCCA others(13): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00609.hp1 others(79): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(17): Show | a0001c0001t0003g0005a0001c0001t0003g0006a0001c0001t0003g0008others(62): Show | 82 | 288 | 0.2847 | -20 | c.176 others(35): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49100467 | CTTTATTT others(13): Show |
C | downstream_gene_variant | MODIFIER | HG02683.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090a0001c0001t0002g0094 | 2 | 386 | 0.0052 | -20 | c.*40 others(31): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 3519 | chr20 | TogoVar | |||||||
CSF1R_chr5_150048295_150091554 | 150076321 | CCTATCTA others(13): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01496.hp1 others(8): Show |
a0001a0003 | a0001c0004a0003c0007a0003c0015 | a0001c0004t0022a0003c0007t0001a0003c0007t0003others(2): Show | a0001c0004t0022g0299a0003c0007t0001g0383a0003c0007t0003g0253others(8): Show | 11 | 406 | 0.0271 | -20 | c.889 others(35): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 5/20 | chr5 | TogoVar | |||||||
CSF1R_chr5_150048295_150091554 | 150083349 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0249 | 1 | 406 | 0.0025 | -20 | c.50- others(35): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
CSF1R_chr5_150048295_150091554 | 150084378 | AGAAAGAA others(13): Show |
A | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 406 | 0.0025 | -20 | c.49+ others(35): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
CSF1R_chr5_150048295_150091554 | 150084382 | AGAAAGAA others(13): Show |
A | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01884.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0015 | a0001c0001t0002g0008a0001c0002t0015g0174 | 3 | 406 | 0.0074 | -20 | c.49+ others(35): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
CSF1R_chr5_150048295_150091554 | 150084386 | AGAAAGAA others(13): Show |
A | intron_variant | MODIFIER | HG03710.hp1 NA19060.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0004 | a0001c0002t0001g0181a0001c0004t0004g0182 | 2 | 406 | 0.0049 | -20 | c.49+ others(35): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
CSF1_chr1_109905849_109935992 | 109919927 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(284): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0009a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(109): Show | 287 | 434 | 0.6613 | -20 | c.397 others(37): Show |
CSF1 | ENSG00000184371.14 | transcript | ENST00000329608.11 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19428825 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0114a0001c0001t0006g0118 | 2 | 238 | 0.0084 | -20 | c.954 others(37): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 5/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19488370 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00738.hp2 others(34): Show |
a0001a0002a0009others(2): Show | a0001c0002a0001c0007a0001c0017others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(15): Show | a0001c0002t0001g0115a0001c0002t0002g0008a0001c0002t0002g0027others(34): Show | 37 | 238 | 0.1555 | -20 | c.634 others(39): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19514475 | CTATATAT others(13): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02572.hp1 NA18522.hp2 |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0005 | a0001c0002t0048a0002c0003t0046a0003c0005t0027 | a0001c0002t0048g0238a0002c0003t0046g0081a0003c0005t0027g0229 | 3 | 238 | 0.0126 | -20 | c.-29 others(39): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19530305 | TACACATA others(13): Show |
T | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0234 | 1 | 238 | 0.0042 | -20 | c.-29 others(41): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19599472 | AAAAGAAA others(13): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp1 HG01261.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0010a0002c0003others(2): Show | a0001c0002t0004a0001c0002t0007a0001c0002t0008others(5): Show | a0001c0002t0004g0095a0001c0002t0004g0144a0001c0002t0004g0153others(16): Show | 19 | 238 | 0.0798 | -20 | c.-29 others(39): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19666760 | GAAGAAAG others(13): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG02886.hp2 |
a0003a0009 | a0003c0005a0009c0020 | a0003c0005t0004a0009c0020t0030 | a0003c0005t0004g0094a0009c0020t0030g0182 | 2 | 238 | 0.0084 | -20 | c.-39 others(41): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19666793 | AAGAAAGA others(13): Show |
A | intron_variant | MODIFIER | HG02897.hp2 HG03139.hp2 NA19066.hp2 others(1): Show |
a0001a0002a0011 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0001a0002c0003t0005a0002c0004t0013others(1): Show | a0001c0001t0001g0192a0002c0003t0005g0185a0002c0004t0013g0124others(1): Show | 4 | 238 | 0.0168 | -20 | c.-39 others(41): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19666943 | AAAAGAAA others(13): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01261.hp1 HG02074.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0007a0001c0002t0022others(1): Show | a0001c0001t0001g0141a0001c0002t0007g0126a0001c0002t0022g0079others(1): Show | 4 | 238 | 0.0168 | -20 | c.-39 others(41): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19667000 | AAAGAAAG others(13): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01884.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0008a0002c0003t0005 | a0001c0002t0008g0035a0002c0003t0005g0093 | 2 | 238 | 0.0084 | -20 | c.-39 others(41): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSH2_chr17_63867016_63878677 | 63875552 | TTTTCTTT others(13): Show |
T | upstream_gene_variant | MODIFIER | NA19030.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0006a0001c0001t0003g0004 | 2 | 410 | 0.0049 | -20 | c.-19 others(31): Show |
CSH2 | ENSG00000213218.11 | transcript | ENST00000392886.7 | protein_coding | 1876 | chr17 | TogoVar | |||||||
CSHL1_chr17_63904608_63916258 | 63912753 | GTTTCTTT others(13): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00642.hp2 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0002a0003c0004t0002 | a0001c0001t0001g0001a0002c0002t0002g0002a0003c0004t0002g0004 | 15 | 438 | 0.0343 | -20 | c.-15 others(31): Show |
CSHL1 | ENSG00000204414.14 | transcript | ENST00000309894.6 | protein_coding | 1496 | chr17 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 2992182 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01123.hp2 HG01255.hp1 others(45): Show |
a0001a0002a0003others(20): Show | a0001c0002a0001c0003a0001c0004others(43): Show | a0001c0002t0028a0001c0003t0008a0001c0003t0019others(45): Show | a0001c0002t0028g0005a0001c0003t0008g0053a0001c0003t0019g0107others(45): Show | 48 | 126 | 0.3810 | -20 | c.837 others(39): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 54/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3065277 | TGATACAT others(13): Show |
T | intron_variant | MODIFIER | HG01261.hp2 NA19043.hp2 |
a0001a0016 | a0001c0050a0016c0063 | a0001c0050t0053a0016c0063t0010 | a0001c0050t0053g0120a0016c0063t0010g0045 | 2 | 126 | 0.0159 | -20 | c.747 others(41): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 49/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3083642 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG03098.hp2 |
a0011a0024 | a0011c0110a0024c0038 | a0011c0110t0074a0024c0038t0075 | a0011c0110t0074g0082a0024c0038t0075g0067 | 2 | 126 | 0.0159 | -20 | c.747 others(39): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 49/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3182841 | GGTGTGTG others(13): Show |
G | intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0078 | a0002c0078t0044 | a0002c0078t0044g0064 | 1 | 126 | 0.0079 | -20 | c.562 others(39): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 36/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3182895 | TGTATTGT others(13): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0008 | a0008c0067 | a0008c0067t0059 | a0008c0067t0059g0079 | 1 | 126 | 0.0079 | -20 | c.562 others(39): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 36/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3194408 | CTATTTTA others(13): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG02280.hp1 HG02572.hp1 others(5): Show |
a0002a0006a0008others(4): Show | a0002c0053a0002c0054a0006c0116others(5): Show | a0002c0053t0022a0002c0054t0079a0006c0116t0004others(5): Show | a0002c0053t0022g0041a0002c0054t0079g0096a0006c0116t0004g0039others(5): Show | 8 | 126 | 0.0635 | -20 | c.519 others(39): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 33/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3262212 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0031 | a0031c0069 | a0031c0069t0043 | a0031c0069t0043g0100 | 1 | 126 | 0.0079 | -20 | c.415 others(41): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 26/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3315339 | AATTTCCT others(13): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0009 | a0009c0113 | a0009c0113t0011 | a0009c0113t0011g0043 | 1 | 126 | 0.0079 | -20 | c.363 others(39): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 23/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3388896 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG02258.hp2 HG02451.hp1 others(12): Show |
a0001a0002a0006others(3): Show | a0001c0005a0001c0006a0001c0040others(12): Show | a0001c0005t0002a0001c0006t0060a0001c0040t0019others(12): Show | a0001c0005t0002g0111a0001c0006t0060g0103a0001c0040t0019g0123others(12): Show | 15 | 126 | 0.1191 | -20 | c.259 others(39): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 17/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3411942 | GCACGTAT others(13): Show |
G | intron_variant | MODIFIER | HG01261.hp2 | a0016 | a0016c0063 | a0016c0063t0010 | a0016c0063t0010g0045 | 1 | 126 | 0.0079 | -20 | c.156 others(39): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3411966 | GCACGTAT others(13): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0093 | a0001c0093t0009 | a0001c0093t0009g0007 | 1 | 126 | 0.0079 | -20 | c.156 others(39): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3485762 | AAAAATAA others(13): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01934.hp2 HG02486.hp2 others(10): Show |
a0001a0002a0003others(5): Show | a0001c0007a0001c0017a0001c0026others(10): Show | a0001c0007t0001a0001c0017t0005a0001c0026t0006others(10): Show | a0001c0007t0001g0035a0001c0017t0005g0003a0001c0026t0006g0093others(10): Show | 13 | 126 | 0.1032 | -20 | c.144 others(39): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 11/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3494554 | TGATAGAT others(13): Show |
T | intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0105 | a0001c0105t0001 | a0001c0105t0001g0029 | 1 | 126 | 0.0079 | -20 | c.134 others(37): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3511762 | AATAACAT others(13): Show |
A | intron_variant | MODIFIER | HG02129.hp1 HG02922.hp2 HG06807.hp2 others(2): Show |
a0001a0002a0031 | a0001c0003a0001c0068a0001c0103others(2): Show | a0001c0003t0013a0001c0068t0015a0001c0103t0033others(2): Show | a0001c0003t0013g0026a0001c0068t0015g0049a0001c0103t0033g0028others(2): Show | 5 | 126 | 0.0397 | -20 | c.134 others(41): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3613702 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01081.hp2 others(11): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0019a0002c0015others(11): Show | a0001c0001t0039a0001c0019t0078a0002c0015t0021others(11): Show | a0001c0001t0039g0017a0001c0019t0078g0105a0002c0015t0021g0008others(11): Show | 14 | 126 | 0.1111 | -20 | c.109 others(39): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 8/69 | chr8 | TogoVar |