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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MBD3L4_chr19_7032749_7045179 | 7035580 | CGATATAG | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG01081.hp2 others(8): Show |
a0001a0005 | a0001c0001a0001c0013a0005c0009 | a0001c0001t0002a0001c0013t0002a0005c0009t0001 | a0001c0001t0002g0006a0001c0001t0002g0014a0001c0013t0002g0022others(1): Show | 11 | 262 | 0.0420 | -7 | c.*22 others(18): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 2168 | chr19 | TogoVar | ||||||
MBD3L4_chr19_7032749_7045179 | 7035658 | ATAATTAC | A | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00609.hp1 others(48): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0017others(7): Show | 51 | 262 | 0.1947 | -7 | c.*21 others(18): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 2090 | chr19 | TogoVar | ||||||
MBD3L5_chr19_7025578_7038011 | 7035658 | ATAATTAC | A | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01106.hp2 others(45): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0002c0017others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0017t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0020a0002c0002t0001g0001others(5): Show | 48 | 249 | 0.1928 | -7 | c.*27 others(18): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 2648 | chr19 | TogoVar | ||||||
MBD5_chr2_148016091_148521971 | 148200808 | GTAAGAAC | G | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0029a0001c0001t0002g0107a0001c0001t0002g0108others(5): Show | 8 | 188 | 0.0426 | -7 | c.-83 others(28): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MBD5_chr2_148016091_148521971 | 148288042 | TAAGTACC | T | intron_variant | MODIFIER | HG00323.hp2 HG01243.hp2 HG01884.hp2 others(3): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0041a0001c0001t0001g0044a0001c0001t0002g0042others(3): Show | 6 | 188 | 0.0319 | -7 | c.-67 others(28): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MBD5_chr2_148016091_148521971 | 148308491 | CTTTTTTT | C | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01175.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(9): Show | 12 | 188 | 0.0638 | -7 | c.-67 others(28): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MBD5_chr2_148016091_148521971 | 148389248 | AAACATAT | A | intron_variant | MODIFIER | HG02602.hp2 HG02738.hp2 NA18943.hp1 others(3): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0001g0053a0001c0001t0001g0136a0001c0001t0004g0092others(3): Show | 6 | 188 | 0.0319 | -7 | c.-55 others(28): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MBNL1_chr3_152263929_152470780 | 152319614 | GTTTTTTT | G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(133): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(133): Show | 136 | 338 | 0.4024 | -7 | c.174 others(26): Show |
MBNL1 | ENSG00000152601.18 | transcript | ENST00000324210.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MBNL2_chr13_97217333_97399120 | 97224628 | CAAAAAAA | C | intron_variant | MODIFIER | HG02976.hp1 HG03098.hp1 NA18948.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0014a0001c0002t0001 | a0001c0001t0004g0233a0001c0001t0014g0234a0001c0002t0001g0235others(2): Show | 5 | 254 | 0.0197 | -7 | c.-60 others(26): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MBNL3_chrX_132364320_132494038 | 132408092 | CTTTTTTT | C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 191 | 0.0052 | -7 | c.178 others(24): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 2/8 | chrX | TogoVar | ||||||
MBNL3_chrX_132364320_132494038 | 132443984 | TCCGCCCC | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02109.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0042others(1): Show | a0001c0001t0002g0027a0001c0001t0002g0028a0001c0001t0002g0154others(3): Show | 6 | 191 | 0.0314 | -7 | c.-70 others(26): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 1/8 | chrX | TogoVar | ||||||
MBNL3_chrX_132364320_132494038 | 132444765 | GATTCTCT | G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0002 | 1 | 191 | 0.0052 | -7 | c.-70 others(26): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 1/8 | chrX | TogoVar | ||||||
MBOAT1_chr6_20094684_20217469 | 20141359 | CTTTTTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02055.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0009a0001c0001t0010a0001c0001t0011others(9): Show | a0001c0001t0009g0243a0001c0001t0010g0258a0001c0001t0011g0279others(10): Show | 13 | 336 | 0.0387 | -7 | c.419 others(24): Show |
MBOAT1 | ENSG00000172197.11 | transcript | ENST00000324607.8 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
MBOAT1_chr6_20094684_20217469 | 20168495 | GAGAGAGA | G | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02258.hp1 others(6): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0009a0001c0001t0014a0001c0001t0026others(5): Show | a0001c0001t0009g0284a0001c0001t0014g0136a0001c0001t0014g0213others(6): Show | 9 | 336 | 0.0268 | -7 | c.100 others(26): Show |
MBOAT1 | ENSG00000172197.11 | transcript | ENST00000324607.8 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
MBOAT2_chr2_8847690_9008684 | 8996348 | TGACAACA | T | intron_variant | MODIFIER | HG02083.hp1 NA18953.hp1 NA18984.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0070a0001c0001t0002g0071a0001c0001t0002g0072others(1): Show | 4 | 162 | 0.0247 | -7 | c.75+ others(22): Show |
MBOAT2 | ENSG00000143797.12 | transcript | ENST00000305997.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
MBP_chr18_76973833_77137783 | 76998336 | CCCTTCCA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(392): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(79): Show | a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0016others(390): Show | 395 | 396 | 0.9975 | -7 | c.577 others(24): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
MBTD1_chr17_51172425_51265049 | 51247441 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(145): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(49): Show | a0001c0001t0001g0106a0001c0001t0001g0109a0001c0001t0001g0115others(143): Show | 148 | 340 | 0.4353 | -7 | c.-49 others(26): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 2/16 | chr17 | TogoVar | ||||||
MBTPS1_chr16_84048763_84121942 | 84071735 | TGTAAAAC | T | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00673.hp1 others(47): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0007a0001c0001t0020a0001c0001t0039others(7): Show | a0001c0001t0007g0188a0001c0001t0020g0024a0001c0001t0020g0025others(44): Show | 50 | 424 | 0.1179 | -7 | c.159 others(24): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 12/22 | chr16 | TogoVar | ||||||
MCCC1_chr3_183010218_183104496 | 183102758 | GTTTTTTT | G | upstream_gene_variant | MODIFIER | HG00639.hp1 HG02132.hp2 HG02145.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0011others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0011t0001others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0153a0001c0001t0001g0154others(13): Show | 16 | 344 | 0.0465 | -7 | c.-33 others(18): Show |
MCCC1 | ENSG00000078070.14 | transcript | ENST00000265594.9 | protein_coding | 3263 | chr3 | TogoVar | ||||||
MCCC2_chr5_71582340_71663706 | 71596200 | GATTAAGT | G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(116): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(112): Show | 119 | 350 | 0.3400 | -7 | c.197 others(20): Show |
MCCC2 | ENSG00000131844.17 | transcript | ENST00000340941.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MCC_chr5_113017106_113493453 | 113233059 | CCAGCAGG | C | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG03225.hp2 |
a0003a0005 | a0003c0014a0005c0032a0005c0033 | a0003c0014t0018a0005c0032t0046a0005c0033t0016 | a0003c0014t0018g0028a0005c0032t0046g0006a0005c0033t0016g0005 | 3 | 160 | 0.0188 | -7 | c.628 others(26): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113270430 | AATTCATT | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00639.hp2 others(45): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0004a0001c0007others(28): Show | a0001c0003t0001a0001c0004t0002a0001c0004t0035others(34): Show | a0001c0003t0001g0083a0001c0004t0002g0068a0001c0004t0035g0084others(45): Show | 48 | 160 | 0.3000 | -7 | c.627 others(26): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113327562 | ATATATAT | A | intron_variant | MODIFIER | HG02818.hp1 HG03654.hp2 HG04199.hp2 others(1): Show |
a0003 | a0003c0005a0003c0015a0003c0020 | a0003c0005t0001a0003c0005t0030a0003c0015t0036others(1): Show | a0003c0005t0001g0020a0003c0005t0030g0024a0003c0015t0036g0018others(1): Show | 4 | 160 | 0.0250 | -7 | c.627 others(26): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183326510 | AAAAAAAC | A | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG00738.hp1 others(14): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(9): Show | a0001c0001t0001g0010a0001c0001t0001g0018a0001c0001t0001g0055others(14): Show | 17 | 176 | 0.0966 | -7 | c.487 others(24): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 5/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183402451 | CAAAAAAA | C | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02451.hp2 others(15): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0016a0003c0003others(9): Show | a0001c0001t0024a0001c0016t0011a0001c0016t0025others(15): Show | a0001c0001t0024g0167a0001c0016t0011g0163a0001c0016t0025g0166others(15): Show | 18 | 176 | 0.1023 | -7 | c.77- others(24): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183417115 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00609.hp2 others(21): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0038a0001c0001t0001g0134a0001c0001t0001g0136others(21): Show | 24 | 176 | 0.1364 | -7 | c.76+ others(24): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
MCF2_chrX_139576770_139713167 | 139583855 | TTGGGAAC | T | intron_variant | MODIFIER | HG01884.hp2 HG02622.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163a0001c0001t0001g0164a0001c0001t0001g0171others(1): Show | 4 | 249 | 0.0161 | -7 | c.297 others(26): Show |
MCF2 | ENSG00000101977.22 | transcript | ENST00000519895.6 | protein_coding | 28/28 | chrX | TogoVar | ||||||
MCF2_chrX_139576770_139713167 | 139590549 | CTTCCTTA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(94): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0022others(93): Show | 97 | 249 | 0.3896 | -7 | c.250 others(24): Show |
MCF2 | ENSG00000101977.22 | transcript | ENST00000519895.6 | protein_coding | 23/28 | chrX | TogoVar | ||||||
MCL1_chr1_150569558_150584610 | 150579776 | GCCGGGGC | G | upstream_gene_variant | MODIFIER | HG04199.hp2 NA18964.hp2 NA20905.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 4 | 412 | 0.0097 | -7 | c.-25 others(16): Show |
MCL1 | ENSG00000143384.14 | transcript | ENST00000369026.3 | protein_coding | 167 | chr1 | TogoVar | ||||||
MCM3_chr6_52259015_52289742 | 52267502 | CTCCCCAG | C | intron_variant | MODIFIER | HG01175.hp1 HG01891.hp1 HG02258.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018a0001c0001t0003g0032a0001c0001t0003g0066others(5): Show | 12 | 430 | 0.0279 | -7 | c.207 others(24): Show |
MCM3 | ENSG00000112118.20 | transcript | ENST00000596288.7 | protein_coding | 14/16 | chr6 | TogoVar | ||||||
MCM6_chr2_135834626_135881443 | 135854547 | AAAAAGAG | A | intron_variant | MODIFIER | HG02129.hp2 HG02559.hp2 HG02818.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0007a0001c0002t0012others(4): Show | a0001c0001t0002g0130a0001c0002t0007g0093a0001c0002t0007g0096others(11): Show | 14 | 394 | 0.0355 | -7 | c.162 others(26): Show |
MCM6 | ENSG00000076003.5 | transcript | ENST00000264156.3 | protein_coding | 11/16 | chr2 | TogoVar | ||||||
MCM9_chr6_118808455_118940159 | 118824035 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(132): Show |
a0001a0002a0008others(4): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(126): Show | 135 | 348 | 0.3879 | -7 | c.196 others(26): Show |
MCM9 | ENSG00000111877.18 | transcript | ENST00000619706.5 | protein_coding | 13/13 | chr6 | TogoVar | ||||||
MCM9_chr6_118808455_118940159 | 118857626 | CAAAAAAA | C | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp2 HG00735.hp2 others(33): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0003a0006c0008others(1): Show | a0001c0001t0002a0001c0001t0014a0002c0003t0001others(4): Show | a0001c0001t0002g0005a0001c0001t0002g0013a0001c0001t0002g0066others(31): Show | 36 | 348 | 0.1035 | -7 | c.115 others(26): Show |
MCM9 | ENSG00000111877.18 | transcript | ENST00000619706.5 | protein_coding | 8/13 | chr6 | TogoVar | ||||||
MCMBP_chr10_119824440_119877843 | 119834861 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG01243.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0013 | a0001c0004t0001g0024a0001c0004t0001g0360a0001c0004t0001g0361others(3): Show | 7 | 400 | 0.0175 | -7 | c.170 others(24): Show |
MCMBP | ENSG00000197771.13 | transcript | ENST00000369077.4 | protein_coding | 14/15 | chr10 | TogoVar | ||||||
MCMBP_chr10_119824440_119877843 | 119852152 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(33): Show |
a0001a0003a0005 | a0001c0001a0003c0008a0003c0009others(1): Show | a0001c0001t0001a0001c0001t0006a0003c0008t0001others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0203a0001c0001t0001g0204others(30): Show | 36 | 400 | 0.0900 | -7 | c.574 others(22): Show |
MCMBP | ENSG00000197771.13 | transcript | ENST00000369077.4 | protein_coding | 6/15 | chr10 | TogoVar | ||||||
MCPH1_chr8_6401627_6653508 | 6419183 | ACACACGC | A | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(73): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0088a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(35): Show | a0001c0001t0001g0007a0001c0001t0001g0025a0001c0001t0001g0074others(73): Show | 76 | 262 | 0.2901 | -7 | c.233 others(24): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 3/13 | chr8 | TogoVar | ||||||
MCPH1_chr8_6401627_6653508 | 6505332 | TAGAAAGA | T | intron_variant | MODIFIER | HG02055.hp2 HG03239.hp2 HG03669.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0037a0003c0005t0006 | a0001c0001t0037g0168a0003c0005t0006g0170a0003c0005t0006g0180 | 3 | 262 | 0.0115 | -7 | c.221 others(26): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MCTP1_chr5_94698690_95290094 | 94749654 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG01261.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0039others(10): Show | a0001c0001t0002g0032a0001c0001t0002g0052a0001c0001t0002g0064others(14): Show | 17 | 98 | 0.1735 | -7 | c.261 others(28): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 19/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 94826772 | CTTTTTTT | C | intron_variant | MODIFIER | HG00735.hp2 HG02071.hp2 HG02083.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0002t0008a0001c0003t0003others(2): Show | a0001c0001t0003g0021a0001c0001t0003g0082a0001c0002t0008g0066others(3): Show | 6 | 98 | 0.0612 | -7 | c.243 others(28): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 17/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 94952171 | CAAAAAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG01261.hp1 HG02055.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0007others(5): Show | a0001c0001t0004g0005a0001c0002t0001g0031a0001c0002t0007g0088others(5): Show | 8 | 98 | 0.0816 | -7 | c.981 others(24): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 3/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 95009055 | AAAGAGAG | A | intron_variant | MODIFIER | HG02615.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013 | a0001c0001t0007g0034a0001c0001t0013g0050 | 2 | 98 | 0.0204 | -7 | c.838 others(24): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 2/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 95134992 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG02809.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(6): Show | a0001c0001t0002g0032a0001c0001t0004g0005a0001c0001t0009g0006others(6): Show | 9 | 98 | 0.0918 | -7 | c.721 others(28): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 95140693 | TAAAAAAA | T | intron_variant | MODIFIER | HG00735.hp2 HG01071.hp1 HG01346.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0002a0001c0002t0001a0001c0002t0007others(1): Show | a0001c0001t0002g0052a0001c0001t0002g0084a0001c0002t0001g0077others(3): Show | 6 | 98 | 0.0612 | -7 | c.721 others(28): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94236377 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG01358.hp1 HG02615.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0032others(4): Show | a0001c0001t0001g0084a0001c0001t0002g0083a0001c0001t0032g0081others(4): Show | 7 | 276 | 0.0254 | -7 | c.-66 others(24): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94294941 | CTTTTTTT | C | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp1 HG02717.hp2 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0011a0001c0001t0032a0001c0002t0001others(7): Show | a0001c0001t0011g0058a0001c0001t0032g0081a0001c0002t0001g0003others(8): Show | 11 | 276 | 0.0399 | -7 | c.-65 others(24): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94316251 | TATGTATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(86): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0013a0001c0001t0001g0037a0001c0001t0001g0047others(86): Show | 89 | 276 | 0.3225 | -7 | c.637 others(22): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94320141 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(51): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0013a0001c0001t0001g0047a0001c0001t0001g0172others(51): Show | 54 | 276 | 0.1957 | -7 | c.637 others(24): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94325812 | ATTTTTTT | A | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01243.hp2 others(19): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0037a0001c0001t0001g0069a0001c0001t0001g0177others(19): Show | 22 | 276 | 0.0797 | -7 | c.637 others(26): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94387114 | CCCTTCCT | C | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02451.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0074a0001c0001t0001g0107a0001c0001t0001g0127others(8): Show | 11 | 276 | 0.0399 | -7 | c.178 others(26): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94464250 | ATATATAT | A | intron_variant | MODIFIER | HG00673.hp2 HG00741.hp1 HG01255.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0003a0001c0001t0040a0001c0002t0003others(4): Show | a0001c0001t0003g0011a0001c0001t0003g0046a0001c0001t0003g0117others(10): Show | 13 | 276 | 0.0471 | -7 | c.236 others(26): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |