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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRLF2_chrX_1185490_1217649 | 1192708 | TTTTCTTT others(17): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG03710.hp2 |
a0001 | a0001c0003a0001c0011 | a0001c0003t0001a0001c0011t0001 | a0001c0003t0001g0035a0001c0011t0001g0143 | 2 | 167 | 0.0120 | -24 | c.852 others(39): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 7/7 | chrX | TogoVar | ||||||
CRMP1_chr4_5815764_5898086 | 5868261 | CTATATAT others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG01123.hp2 others(12): Show |
a0001a0002 | a0001c0009a0001c0010a0001c0021others(4): Show | a0001c0009t0001a0001c0009t0003a0001c0010t0001others(6): Show | a0001c0009t0001g0291a0001c0009t0001g0303a0001c0009t0001g0308others(12): Show | 15 | 314 | 0.0478 | -24 | c.382 others(41): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
CROCC_chr1_16916931_16977964 | 16975405 | AGACAGAA others(17): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00558.hp1 others(88): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(25): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0022others(83): Show | 91 | 232 | 0.3922 | -24 | c.*29 others(35): Show |
CROCC | ENSG00000058453.17 | transcript | ENST00000375541.10 | protein_coding | 2442 | chr1 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16387064 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02809.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0025a0001c0001t0057 | a0001c0001t0011g0050a0001c0001t0025g0049a0001c0001t0057g0048 | 3 | 290 | 0.0103 | -24 | c.535 others(43): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16387066 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00621.hp2 others(67): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(37): Show | a0001c0001t0001g0173a0001c0001t0001g0183a0001c0001t0001g0194others(67): Show | 70 | 290 | 0.2414 | -24 | c.535 others(43): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16414350 | AACACACA others(17): Show |
A | intron_variant | MODIFIER | HG03540.hp2 HG04204.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0019a0002c0002t0002 | a0001c0001t0019g0202a0002c0002t0002g0259 | 2 | 290 | 0.0069 | -24 | c.257 others(41): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 1/9 | chr7 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 97894708 | TTACATAT others(17): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02071.hp1 HG02109.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0041a0001c0001t0001g0047others(5): Show | 8 | 204 | 0.0392 | -24 | c.148 others(41): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 11/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 97894711 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0067 | 1 | 204 | 0.0049 | -24 | c.148 others(41): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 11/14 | chr10 | TogoVar | ||||||
CRTAM_chr11_122833500_122877643 | 122861402 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0005 | a0005c0010 | a0005c0010t0007 | a0005c0010t0007g0237 | 1 | 428 | 0.0023 | -24 | c.653 others(41): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTC1_chr19_18678680_18787333 | 18706182 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG01884.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027 | a0001c0001t0001g0127a0001c0001t0027g0004 | 2 | 274 | 0.0073 | -24 | c.126 others(43): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90533084 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | HG01891.hp2 NA20129.hp1 |
a0001a0008 | a0001c0001a0008c0012 | a0001c0001t0019a0008c0012t0021 | a0001c0001t0019g0028a0008c0012t0021g0029 | 2 | 276 | 0.0073 | -24 | c.132 others(41): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90556958 | CTATATAT others(17): Show |
C | intron_variant | MODIFIER | HG03492.hp2 HG04115.hp2 HG04199.hp2 |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0003a0002c0002t0001a0002c0002t0003 | a0001c0006t0003g0149a0002c0002t0001g0066a0002c0002t0003g0109 | 3 | 276 | 0.0109 | -24 | c.231 others(43): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90564904 | ACCTTCCT others(17): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp2 others(16): Show |
a0001a0003a0007 | a0001c0001a0001c0004a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0011others(16): Show | 19 | 276 | 0.0688 | -24 | c.231 others(43): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRYBA4_chr22_26616963_26635669 | 26627359 | CCTTTCTT others(17): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 402 | 0.0025 | -24 | c.301 others(39): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBB2_chr22_25214639_25236869 | 25218763 | GAGAGAGA others(17): Show |
G | upstream_gene_variant | MODIFIER | NA18974.hp1 NA18983.hp1 NA18999.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0044 | 7 | 464 | 0.0151 | -24 | c.-92 others(33): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 875 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218779 | GAAGAAAG others(17): Show |
G | upstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 464 | 0.0022 | -24 | c.-91 others(33): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 859 | chr22 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106358171 | TTTTATAT others(17): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02723.hp2 others(7): Show |
a0005a0012a0018others(5): Show | a0005c0006a0012c0015a0018c0037others(5): Show | a0005c0006t0008a0012c0015t0003a0012c0015t0007others(6): Show | a0005c0006t0008g0243a0012c0015t0003g0241a0012c0015t0003g0242others(7): Show | 10 | 272 | 0.0368 | -24 | c.-27 others(35): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2545 | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106358197 | ATATATAT others(17): Show |
A | upstream_gene_variant | MODIFIER | HG03453.hp1 | a0012 | a0012c0015 | a0012c0015t0007 | a0012c0015t0007g0245 | 1 | 272 | 0.0037 | -24 | c.-27 others(35): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2519 | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106375401 | GTAAGTAA others(17): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0004 | a0004c0069 | a0004c0069t0002 | a0004c0069t0002g0166 | 1 | 272 | 0.0037 | -24 | c.173 others(43): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106391948 | TGTGTGTG others(17): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0024 | a0024c0027 | a0024c0027t0004 | a0024c0027t0004g0008 | 1 | 272 | 0.0037 | -24 | c.173 others(43): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106433735 | ACATATAT others(17): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00733.hp1 HG00738.hp2 others(17): Show |
a0001a0002a0003others(10): Show | a0001c0067a0002c0003a0003c0002others(12): Show | a0001c0067t0001a0002c0003t0010a0003c0002t0005others(12): Show | a0001c0067t0001g0015a0002c0003t0010g0234a0003c0002t0005g0103others(17): Show | 20 | 272 | 0.0735 | -24 | c.174 others(43): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106515756 | AATTTATT others(17): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02895.hp2 others(10): Show |
a0012a0014a0022others(4): Show | a0012c0015a0014c0017a0022c0040others(5): Show | a0012c0015t0003a0012c0015t0007a0014c0017t0003others(7): Show | a0012c0015t0003g0241a0012c0015t0003g0242a0012c0015t0007g0239others(10): Show | 13 | 272 | 0.0478 | -24 | c.192 others(43): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG3_chr3_97817011_97949984 | 97841241 | TACATATA others(17): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02559.hp2 others(1): Show |
a0007 | a0007c0009 | a0007c0009t0005 | a0007c0009t0005g0035a0007c0009t0005g0254a0007c0009t0005g0255 | 4 | 316 | 0.0127 | -24 | c.150 others(41): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CRYL1_chr13_20398669_20530857 | 20434328 | ACACCAAT others(17): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 | 1 | 250 | 0.0040 | -24 | c.439 others(41): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
CRYM_chr16_21253521_21283290 | 21281094 | TTCTCTCT others(17): Show |
T | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00741.hp2 others(30): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008a0001c0002t0001g0014a0001c0002t0001g0015others(14): Show | 33 | 394 | 0.0838 | -24 | c.-28 others(35): Show |
CRYM | ENSG00000103316.12 | transcript | ENST00000572914.2 | protein_coding | 2805 | chr16 | TogoVar | ||||||
CRYZ_chr1_74700486_74738050 | 74718749 | CAGAGGGT others(17): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02886.hp2 HG02895.hp2 others(8): Show |
a0001a0002 | a0001c0006a0002c0004 | a0001c0006t0001a0002c0004t0003 | a0001c0006t0001g0224a0001c0006t0001g0225a0001c0006t0001g0226others(8): Show | 11 | 372 | 0.0296 | -24 | c.428 others(39): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
CSDC2_chr22_41556010_41581666 | 41572343 | TCCACCCA others(17): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0040 | a0001c0001t0009g0187a0001c0001t0040g0073 | 2 | 288 | 0.0069 | -24 | c.176 others(39): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CSDC2_chr22_41556010_41581666 | 41572383 | CCCACCCA others(17): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0064 | 1 | 288 | 0.0035 | -24 | c.176 others(39): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CSDC2_chr22_41556010_41581666 | 41572387 | CCCATCCA others(17): Show |
C | intron_variant | MODIFIER | HG01258.hp1 HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0038a0001c0001t0006g0039a0001c0001t0006g0041 | 3 | 288 | 0.0104 | -24 | c.176 others(39): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49100467 | CTTTATTT others(17): Show |
C | downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 386 | 0.0026 | -24 | c.*40 others(35): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 3519 | chr20 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150076321 | CCTATCTA others(17): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02630.hp2 HG02895.hp1 others(10): Show |
a0001a0002a0010 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0006a0001c0001t0017a0001c0004t0006others(5): Show | a0001c0001t0006g0386a0001c0001t0017g0149a0001c0001t0017g0292others(9): Show | 13 | 406 | 0.0320 | -24 | c.889 others(39): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 5/20 | chr5 | TogoVar | ||||||
CSF1_chr1_109905849_109935992 | 109919927 | AAAATAAA others(17): Show |
A | intron_variant | MODIFIER | NA18962.hp2 NA18978.hp2 NA18992.hp2 others(1): Show |
a0001a0004 | a0001c0004a0004c0010 | a0001c0004t0001a0004c0010t0001a0004c0010t0013 | a0001c0004t0001g0022a0004c0010t0001g0022a0004c0010t0013g0022 | 4 | 434 | 0.0092 | -24 | c.397 others(41): Show |
CSF1 | ENSG00000184371.14 | transcript | ENST00000329608.11 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CSGALNACT1_chr8_19399161_19762277 | 19488370 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG01070.hp1 others(25): Show |
a0001a0003a0010others(1): Show | a0001c0002a0001c0007a0003c0005others(2): Show | a0001c0002t0004a0001c0002t0005a0001c0002t0007others(9): Show | a0001c0002t0004g0038a0001c0002t0004g0117a0001c0002t0004g0144others(25): Show | 28 | 238 | 0.1177 | -24 | c.634 others(43): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19657239 | TGATAAAC others(17): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp1 HG02615.hp2 others(3): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0003a0002c0012others(2): Show | a0001c0001t0001a0002c0003t0034a0002c0003t0046others(3): Show | a0001c0001t0001g0040a0002c0003t0034g0054a0002c0003t0046g0081others(3): Show | 6 | 238 | 0.0252 | -24 | c.-39 others(45): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19666760 | GAAGAAAG others(17): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG02300.hp1 |
a0001a0005 | a0001c0002a0005c0011 | a0001c0002t0001a0005c0011t0003 | a0001c0002t0001g0115a0005c0011t0003g0180a0005c0011t0003g0181 | 3 | 238 | 0.0126 | -24 | c.-39 others(45): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19666933 | GAGAGAGA others(17): Show |
G | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0058 | 1 | 238 | 0.0042 | -24 | c.-39 others(45): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19666943 | AAAAGAAA others(17): Show |
A | intron_variant | MODIFIER | HG02109.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0019a0001c0017t0023 | a0001c0001t0019g0082a0001c0017t0023g0011 | 2 | 238 | 0.0084 | -24 | c.-39 others(45): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19667016 | AAAGGAAG others(17): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0073 | 1 | 238 | 0.0042 | -24 | c.-39 others(45): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSHL1_chr17_63904608_63916258 | 63912747 | ATTTTAGT others(17): Show |
A | upstream_gene_variant | MODIFIER | HG02723.hp2 HG03486.hp2 |
a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0010 | 2 | 438 | 0.0046 | -24 | c.-15 others(35): Show |
CSHL1 | ENSG00000204414.14 | transcript | ENST00000309894.6 | protein_coding | 1490 | chr17 | TogoVar | ||||||
CSHL1_chr17_63904608_63916258 | 63912753 | GTTTCTTT others(17): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00738.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0001a0002c0002t0002g0002 | 8 | 438 | 0.0183 | -24 | c.-15 others(35): Show |
CSHL1 | ENSG00000204414.14 | transcript | ENST00000309894.6 | protein_coding | 1496 | chr17 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3188056 | GTGTATAT others(17): Show |
G | intron_variant | MODIFIER | HG01123.hp1 HG02258.hp1 HG02258.hp2 others(3): Show |
a0001a0002a0008 | a0001c0039a0001c0085a0001c0114others(3): Show | a0001c0039t0066a0001c0085t0020a0001c0114t0003others(3): Show | a0001c0039t0066g0080a0001c0085t0020g0060a0001c0114t0003g0119others(3): Show | 6 | 126 | 0.0476 | -24 | c.552 others(40): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 35/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3411825 | TGTATATA others(17): Show |
T | intron_variant | MODIFIER | HG01261.hp2 | a0016 | a0016c0063 | a0016c0063t0010 | a0016c0063t0010g0045 | 1 | 126 | 0.0079 | -24 | c.156 others(43): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3439130 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0004 | a0001c0004t0063 | a0001c0004t0063g0095 | 1 | 126 | 0.0079 | -24 | c.156 others(45): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3511763 | ATAACATA others(17): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 |
a0001a0003 | a0001c0004a0003c0058 | a0001c0004t0063a0003c0058t0057 | a0001c0004t0063g0095a0003c0058t0057g0117 | 2 | 126 | 0.0159 | -24 | c.134 others(45): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3729938 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 |
a0001 | a0001c0004a0001c0046 | a0001c0004t0063a0001c0046t0073 | a0001c0004t0063g0095a0001c0046t0073g0091 | 2 | 126 | 0.0159 | -24 | c.932 others(43): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3817252 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01123.hp1 HG01243.hp2 others(18): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0007a0001c0021others(17): Show | a0001c0002t0002a0001c0002t0061a0001c0007t0032others(18): Show | a0001c0002t0002g0083a0001c0002t0061g0069a0001c0007t0032g0033others(18): Show | 21 | 126 | 0.1667 | -24 | c.819 others(43): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3926082 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0051 | a0002c0051t0006 | a0002c0051t0006g0081 | 1 | 126 | 0.0079 | -24 | c.818 others(43): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3984704 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG02056.hp1 HG02886.hp1 |
a0001a0019 | a0001c0002a0001c0039a0019c0018 | a0001c0002t0002a0001c0039t0066a0019c0018t0058 | a0001c0002t0002g0083a0001c0039t0066g0080a0019c0018t0058g0068 | 3 | 126 | 0.0238 | -24 | c.818 others(43): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4078919 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0050 | a0001c0050t0053 | a0001c0050t0053g0120 | 1 | 126 | 0.0079 | -24 | c.416 others(43): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4226067 | GACACACA others(17): Show |
G | intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0022 | a0002c0022t0036 | a0002c0022t0036g0048 | 1 | 126 | 0.0079 | -24 | c.415 others(45): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar |