view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPSF4_chr7_99433943_99462373 | 99440651 | CTGGCATA others(16): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp2 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 |
3 | 362 | 0.0083 | -23 | c.103 others(40): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPT1A_chr11_68749883_68846916 | 68791187 | GCATGTCT others(16): Show |
G | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 234 | 0.0043 | -23 | c.967 others(40): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 9/18 | chr11 | TogoVar | |||||||
CPVL_chr7_28990235_29151537 | 29123611 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG03130.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0147 a0001c0002t0001g0171 |
2 | 277 | 0.0072 | -23 | c.-10 others(40): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123750020 | ATATTGGC others(16): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 286 | 0.0035 | -23 | c.201 others(42): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 13/13 | chr10 | TogoVar | |||||||
CP_chr3_149167497_149226829 | 149179830 | AGGAATTT others(16): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp1 HG02886.hp1 others(3): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0012 | a0001c0001t0001a0002c0002t0001a0007c0012t0001 | a0001c0001t0001g0267 a0002c0002t0001g0003 a0002c0002t0001g0285 others(1): Show |
6 | 374 | 0.0160 | -23 | c.255 others(40): Show |
CP | ENSG00000047457.14 | transcript | ENST00000264613.11 | protein_coding | 14/18 | chr3 | TogoVar | |||||||
CR1L_chr1_207640133_207728703 | 207648379 | TTAAATCA others(16): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02257.hp2 HG02300.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0248 a0001c0001t0001g0249 others(5): Show |
9 | 344 | 0.0262 | -23 | c.97+ others(38): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRB1_chr1_197263252_197483455 | 197354833 | CCCCCGCC others(16): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 a0001c0002t0001g0065 |
2 | 183 | 0.0109 | -23 | c.989 others(40): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRB2_chr9_123351197_123383753 | 123363690 | TACAAGGT others(16): Show |
T | intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0174 | 1 | 430 | 0.0023 | -23 | c.418 others(38): Show |
CRB2 | ENSG00000148204.12 | transcript | ENST00000373631.8 | protein_coding | 2/12 | chr9 | TogoVar | |||||||
CRBN_chr3_3145011_3184691 | 3151336 | GACCACAT others(16): Show |
G | intron_variant | MODIFIER | HG03688.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0102 a0001c0002t0001g0100 |
2 | 374 | 0.0053 | -23 | c.114 others(40): Show |
CRBN | ENSG00000113851.16 | transcript | ENST00000231948.9 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
CREB5_chr7_28407518_28830894 | 28657074 | CAAACACA others(16): Show |
C | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0075 | 1 | 196 | 0.0051 | -23 | c.465 others(42): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28815359 | CTGCATTT others(16): Show |
C | intron_variant | MODIFIER | HG03834.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0133 a0001c0001t0011g0196 |
2 | 196 | 0.0102 | -23 | c.125 others(42): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 9/10 | chr7 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849423 | GTGTGTGT others(16): Show |
G | intron_variant | MODIFIER | NA18961.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0028 | a0001c0001t0001a0001c0028t0010 | a0001c0001t0001g0015 a0001c0028t0010g0010 |
2 | 281 | 0.0071 | -23 | c.798 others(38): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849425 | GTGTGTGT others(16): Show |
G | intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 282 | 0.0035 | -23 | c.798 others(38): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849427 | GTGTGTGT others(16): Show |
G | intron_variant | MODIFIER | HG01069.hp1 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0110 |
2 | 273 | 0.0073 | -23 | c.798 others(38): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849431 | GTGTGTGT others(16): Show |
G | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 268 | 0.0037 | -23 | c.798 others(38): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849437 | GTGTGTGT others(16): Show |
G | intron_variant | MODIFIER | HG02129.hp2 NA18954.hp1 NA18963.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0044 a0001c0001t0001g0100 a0001c0001t0001g0103 others(2): Show |
5 | 274 | 0.0182 | -23 | c.798 others(38): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3852035 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 43 | 0.0233 | -23 | c.86- others(38): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
CREBRF_chr5_173051352_173144284 | 173132429 | TCCCCTCC others(16): Show |
T | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0250 | 1 | 290 | 0.0034 | -23 | c.180 others(42): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CREBZF_chr11_85652990_85670129 | 85669001 | CAAAAAAA others(16): Show |
C | upstream_gene_variant | MODIFIER | HG01074.hp2 HG02055.hp2 HG02965.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0026a0004c0009t0051 | a0001c0001t0001g0000 a0001c0001t0026g0000 a0004c0009t0051g0000 |
7 | 12 | 0.5833 | -23 | c.-41 others(34): Show |
CREBZF | ENSG00000137504.15 | transcript | ENST00000527447.2 | protein_coding | 3873 | chr11 | TogoVar | |||||||
CREG2_chr2_101340550_101392503 | 101341296 | CAAAAAAA others(16): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 10 | 0.1000 | -23 | c.*96 others(34): Show |
CREG2 | ENSG00000175874.10 | transcript | ENST00000324768.6 | protein_coding | 4253 | chr2 | TogoVar | |||||||
CREG2_chr2_101340550_101392503 | 101342077 | GGAGGGGA others(16): Show |
G | downstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 386 | 0.0026 | -23 | c.*88 others(34): Show |
CREG2 | ENSG00000175874.10 | transcript | ENST00000324768.6 | protein_coding | 3472 | chr2 | TogoVar | |||||||
CREG2_chr2_101340550_101392503 | 101379347 | GCTGTAAA others(16): Show |
G | intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 386 | 0.0026 | -23 | c.611 others(40): Show |
CREG2 | ENSG00000175874.10 | transcript | ENST00000324768.6 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
CRELD1_chr3_9928834_9950406 | 9940677 | ACCATGGG others(16): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG01952.hp1 HG01975.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0179 a0001c0001t0001g0180 others(3): Show |
9 | 400 | 0.0225 | -23 | c.461 others(38): Show |
CRELD1 | ENSG00000163703.20 | transcript | ENST00000452070.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CREM_chr10_35121846_35217953 | 35217829 | CTTTTTTT others(16): Show |
C | downstream_gene_variant | MODIFIER | HG01169.hp1 HG03491.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 a0001c0001t0003g0031 |
2 | 42 | 0.0476 | -23 | c.*64 others(34): Show |
CREM | ENSG00000095794.21 | transcript | ENST00000685392.1 | protein_coding | 4877 | chr10 | TogoVar | |||||||
CRISP2_chr6_49687359_49718543 | 49702139 | CTATATAT others(16): Show |
C | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 2 | 0.5000 | -23 | c.67- others(38): Show |
CRISP2 | ENSG00000124490.14 | transcript | ENST00000339139.5 | protein_coding | 4/9 | chr6 | TogoVar | |||||||
CRK_chr17_1415693_1461232 | 1453007 | ATGAAGTG others(16): Show |
A | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 402 | 0.0025 | -23 | c.241 others(40): Show |
CRK | ENSG00000167193.8 | transcript | ENST00000300574.3 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1217254 | ACAAAAAT others(16): Show |
A | upstream_gene_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0108 | 1 | 165 | 0.0061 | -23 | c.-46 others(34): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 4606 | chrX | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240984527 | TTCCACAC others(16): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(180): Show |
a0001a0002a0003others(32): Show | a0001c0001a0001c0022a0001c0067others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0022t0002others(58): Show | a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0122 others(179): Show |
183 | 237 | 0.7722 | -23 | c.455 others(42): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16286035 | AAAAATAT others(16): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0002 | a0002c0002t0067 | a0002c0002t0067g0255 | 1 | 286 | 0.0035 | -23 | c.836 others(40): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 5/9 | chr7 | TogoVar | |||||||
CRTAM_chr11_122833500_122877643 | 122861402 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG06807.hp1 NA21309.hp1 |
a0004a0008 | a0004c0010a0008c0011 | a0004c0010t0015a0008c0011t0001 | a0004c0010t0015g0207 a0008c0011t0001g0208 |
2 | 422 | 0.0047 | -23 | c.653 others(40): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CRTAP_chr3_33109014_33152773 | 33111281 | AGAGCTTA others(16): Show |
A | upstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0028 | 1 | 406 | 0.0025 | -23 | c.-27 others(34): Show |
CRTAP | ENSG00000170275.15 | transcript | ENST00000320954.11 | protein_coding | 2732 | chr3 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90533084 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0118 | 1 | 62 | 0.0161 | -23 | c.132 others(40): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CRYZ_chr1_74700486_74738050 | 74733043 | GGCTCCAC others(16): Show |
G | 5_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02451.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0002c0003t0008 | a0001c0001t0007g0045 a0002c0003t0008g0046 |
2 | 370 | 0.0054 | -23 | c.-12 others(32): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/9 | 8223 | chr1 | TogoVar | ||||||
CSAG1_chrX_152722484_152738721 | 152723267 | TGGACGTG others(16): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01168.hp1 others(12): Show |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0004 | a0003c0003t0003g0009 a0003c0003t0003g0014 a0003c0003t0003g0019 others(4): Show |
15 | 316 | 0.0475 | -23 | c.*45 others(34): Show |
CSAG1 | ENSG00000198930.13 | transcript | ENST00000452779.3 | protein_coding | 4216 | chrX | TogoVar | |||||||
CSAG1_chrX_152722484_152738721 | 152726266 | GGCCAAGG others(16): Show |
G | downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 316 | 0.0032 | -23 | c.*15 others(34): Show |
CSAG1 | ENSG00000198930.13 | transcript | ENST00000452779.3 | protein_coding | 1217 | chrX | TogoVar | |||||||
CSF2RB_chr22_36908628_36945439 | 36920249 | TTAACCTT others(16): Show |
T | intron_variant | MODIFIER | HG03516.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0031 | a0001c0001t0002a0001c0031t0002 | a0001c0001t0002g0052 a0001c0031t0002g0051 |
2 | 358 | 0.0056 | -23 | c.-17 others(42): Show |
CSF2RB | ENSG00000100368.15 | transcript | ENST00000403662.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19667017 | AAGGAAGG others(16): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0051 | 1 | 235 | 0.0043 | -23 | c.-39 others(44): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19667019 | GGAAGGAA others(16): Show |
G | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0032 | 1 | 230 | 0.0043 | -23 | c.-39 others(44): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3067070 | TAAGCCTG others(16): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01071.hp2 HG01255.hp2 others(1): Show |
a0001a0002 | a0001c0047a0001c0049a0001c0073others(1): Show | a0001c0047t0012a0001c0049t0002a0001c0073t0006others(1): Show | a0001c0047t0012g0024 a0001c0049t0002g0071 a0001c0073t0006g0108 others(1): Show |
4 | 126 | 0.0317 | -23 | c.747 others(44): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 49/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3083634 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0026 | 1 | 126 | 0.0079 | -23 | c.747 others(42): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 49/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3136891 | AAATTTTT others(16): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0093 | a0001c0093t0009 | a0001c0093t0009g0007 | 1 | 126 | 0.0079 | -23 | c.624 others(42): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 41/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3306821 | AAGAGCTT others(16): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(84): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0002a0001c0003others(79): Show | a0001c0001t0002a0001c0001t0038a0001c0002t0002others(84): Show | a0001c0001t0002g0102 a0001c0001t0038g0017 a0001c0002t0002g0083 others(84): Show |
87 | 126 | 0.6905 | -23 | c.395 others(40): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 25/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3795142 | TCTATCAT others(16): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01071.hp1 HG01071.hp2 others(16): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0006others(15): Show | a0001c0001t0002a0001c0003t0008a0001c0006t0002others(16): Show | a0001c0001t0002g0125 a0001c0003t0008g0053 a0001c0006t0002g0109 others(16): Show |
19 | 82 | 0.2317 | -23 | c.819 others(42): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3795393 | GATATCTA others(16): Show |
G | intron_variant | MODIFIER | HG04204.hp2 NA18971.hp1 NA18984.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0059a0001c0109others(1): Show | a0001c0001t0002a0001c0059t0001a0001c0109t0037others(1): Show | a0001c0001t0002g0102 a0001c0059t0001g0036 a0001c0109t0037g0013 others(1): Show |
4 | 91 | 0.0440 | -23 | c.819 others(42): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3796001 | CATGTATA others(16): Show |
C | intron_variant | MODIFIER | HG02074.hp2 HG02886.hp2 |
a0002 | a0002c0078a0002c0091 | a0002c0078t0044a0002c0091t0002 | a0002c0078t0044g0064 a0002c0091t0002g0114 |
2 | 125 | 0.0160 | -23 | c.819 others(42): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3817252 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02723.hp1 HG02922.hp2 others(4): Show |
a0001a0004a0008others(3): Show | a0001c0002a0001c0085a0004c0014others(4): Show | a0001c0002t0026a0001c0085t0020a0004c0014t0055others(4): Show | a0001c0002t0026g0005 a0001c0085t0020g0060 a0004c0014t0055g0056 others(4): Show |
7 | 12 | 0.5833 | -23 | c.819 others(42): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4236026 | GTTTTTTT others(16): Show |
G | intron_variant | MODIFIER | HG02723.hp2 NA19090.hp1 |
a0001a0005 | a0001c0102a0005c0065 | a0001c0102t0005a0005c0065t0023 | a0001c0102t0005g0034 a0005c0065t0023g0050 |
2 | 80 | 0.0250 | -23 | c.415 others(44): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4707886 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02922.hp1 |
a0019a0022 | a0019c0082a0022c0062 | a0019c0082t0051a0022c0062t0057 | a0019c0082t0051g0097 a0022c0062t0057g0062 |
2 | 5 | 0.4000 | -23 | c.86- others(40): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4727945 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02451.hp1 others(10): Show |
a0001a0002a0004others(5): Show | a0001c0017a0001c0025a0001c0115others(10): Show | a0001c0017t0005a0001c0025t0003a0001c0115t0042others(10): Show | a0001c0017t0005g0003 a0001c0025t0003g0077 a0001c0115t0042g0055 others(10): Show |
13 | 126 | 0.1032 | -23 | c.86- others(40): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4742000 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01123.hp1 others(18): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0050a0001c0079others(18): Show | a0001c0002t0002a0001c0050t0052a0001c0079t0070others(18): Show | a0001c0002t0002g0083 a0001c0050t0052g0120 a0001c0079t0070g0113 others(18): Show |
21 | 24 | 0.8750 | -23 | c.86- others(42): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar |