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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CREBZF_chr11_85652990_85670129 | 85669001 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 392 | 0.0026 | -17 | c.-41 others(28): Show |
CREBZF | ENSG00000137504.15 | transcript | ENST00000527447.2 | protein_coding | 3873 | chr11 | TogoVar | ||||||
CREG2_chr2_101340550_101392503 | 101341296 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG03041.hp2 NA19074.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0009 | a0001c0001t0002g0219a0002c0002t0009g0058 | 2 | 388 | 0.0052 | -17 | c.*96 others(28): Show |
CREG2 | ENSG00000175874.10 | transcript | ENST00000324768.6 | protein_coding | 4253 | chr2 | TogoVar | ||||||
CRELD2_chr22_49913634_49932537 | 49919153 | ACCCTCGA others(10): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(84): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0007a0001c0016others(9): Show | a0001c0003t0002a0001c0007t0002a0001c0016t0002others(13): Show | a0001c0003t0002g0014a0001c0003t0002g0035a0001c0003t0002g0155others(66): Show | 87 | 324 | 0.2685 | -17 | c.130 others(30): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CREM_chr10_35121846_35217953 | 35149888 | AAACACAC others(10): Show |
A | intron_variant | MODIFIER | NA19000.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040a0001c0001t0002g0093 | 2 | 294 | 0.0068 | -17 | c.168 others(34): Show |
CREM | ENSG00000095794.21 | transcript | ENST00000685392.1 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CREM_chr10_35121846_35217953 | 35217829 | CTTTTTTT others(10): Show |
C | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 294 | 0.0034 | -17 | c.*64 others(28): Show |
CREM | ENSG00000095794.21 | transcript | ENST00000685392.1 | protein_coding | 4877 | chr10 | TogoVar | ||||||
CRIM1_chr2_36350778_36556135 | 36555292 | CGTCCTCA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0101 | a0001c0001t0101g0013 | 1 | 324 | 0.0031 | -17 | c.*65 others(28): Show |
CRIM1 | ENSG00000150938.10 | transcript | ENST00000280527.7 | protein_coding | 4158 | chr2 | TogoVar | ||||||
CRIP1_chr14_105481886_105493947 | 105487732 | GGGAGGGA others(10): Show |
G | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 384 | 0.0026 | -17 | c.41- others(30): Show |
CRIP1 | ENSG00000213145.10 | transcript | ENST00000392531.4 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477805 | GGGGGGAG others(10): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0244 | 1 | 316 | 0.0032 | -17 | c.44- others(30): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CRISP2_chr6_49687359_49718543 | 49701610 | GTATATAT others(10): Show |
G | intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 410 | 0.0024 | -17 | c.67- others(30): Show |
CRISP2 | ENSG00000124490.14 | transcript | ENST00000339139.5 | protein_coding | 4/9 | chr6 | TogoVar | ||||||
CRISP2_chr6_49687359_49718543 | 49701616 | ATATATAC others(10): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01891.hp1 HG02083.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0079a0001c0001t0001g0080a0001c0001t0001g0083others(6): Show | 12 | 410 | 0.0293 | -17 | c.67- others(30): Show |
CRISP2 | ENSG00000124490.14 | transcript | ENST00000339139.5 | protein_coding | 4/9 | chr6 | TogoVar | ||||||
CRISP2_chr6_49687359_49718543 | 49702139 | CTATATAT others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(106): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(66): Show | 109 | 410 | 0.2659 | -17 | c.67- others(32): Show |
CRISP2 | ENSG00000124490.14 | transcript | ENST00000339139.5 | protein_coding | 4/9 | chr6 | TogoVar | ||||||
CRK_chr17_1415693_1461232 | 1427030 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(93): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(7): Show | a0001c0001t0001g0359a0001c0001t0001g0360a0001c0001t0001g0363others(90): Show | 96 | 404 | 0.2376 | -17 | c.778 others(34): Show |
CRK | ENSG00000167193.8 | transcript | ENST00000300574.3 | protein_coding | 2/2 | chr17 | TogoVar | ||||||
CRLF3_chr17_30777684_30829692 | 30820203 | TTCCTTTT others(10): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG02647.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0081a0001c0002t0009g0309a0001c0002t0009g0313others(1): Show | 4 | 324 | 0.0124 | -17 | c.129 others(34): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
CRLS1_chr20_6001123_6045053 | 6012066 | CAGTATTC others(10): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02970.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0051 | a0001c0001t0022g0136a0001c0001t0022g0137a0001c0001t0051g0135 | 3 | 366 | 0.0082 | -17 | c.444 others(34): Show |
CRLS1 | ENSG00000088766.12 | transcript | ENST00000378863.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CRLS1_chr20_6001123_6045053 | 6039260 | TTTGTGTG others(10): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG01515.hp1 HG01517.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0026a0001c0001t0015g0176a0001c0001t0015g0202others(1): Show | 4 | 366 | 0.0109 | -17 | c.*21 others(28): Show |
CRLS1 | ENSG00000088766.12 | transcript | ENST00000378863.9 | protein_coding | 7/7 | 2104 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
CROCC2_chr2_240901336_240998311 | 240923577 | TCCCCACA others(10): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG03195.hp1 |
a0037a0038 | a0037c0088a0038c0082 | a0037c0088t0003a0038c0082t0001 | a0037c0088t0003g0148a0038c0082t0001g0147 | 2 | 350 | 0.0057 | -17 | c.488 others(32): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240923609 | GGCCCCCA others(10): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0031 | a0031c0052 | a0031c0052t0001 | a0031c0052t0001g0169 | 1 | 350 | 0.0029 | -17 | c.488 others(32): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240923923 | CCCCCACA others(10): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0034 | 1 | 350 | 0.0029 | -17 | c.488 others(34): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924843 | GGCCCCCA others(10): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0062 | 1 | 350 | 0.0029 | -17 | c.489 others(32): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924860 | AGCCCCCA others(10): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG03927.hp1 HG04115.hp1 |
a0003a0004a0005 | a0003c0003a0004c0004a0005c0005 | a0003c0003t0001a0004c0004t0001a0005c0005t0003 | a0003c0003t0001g0049a0004c0004t0001g0063a0005c0005t0003g0059 | 3 | 350 | 0.0086 | -17 | c.489 others(32): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240982049 | TGGGGGCG others(10): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0052 | a0052c0072 | a0052c0072t0002 | a0052c0072t0002g0239 | 1 | 350 | 0.0029 | -17 | c.440 others(34): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240985321 | GGCACTCA others(10): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01169.hp1 HG02129.hp1 others(10): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0022a0002c0021others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0022t0002others(6): Show | a0001c0001t0001g0156a0001c0001t0001g0191a0001c0001t0002g0308others(10): Show | 13 | 350 | 0.0371 | -17 | c.455 others(36): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | chr2 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16286039 | ATATAAAT others(10): Show |
A | intron_variant | MODIFIER | HG04199.hp1 NA19240.hp1 NA20129.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0026a0001c0001t0059others(1): Show | a0001c0001t0005g0185a0001c0001t0026g0199a0001c0001t0059g0180others(1): Show | 4 | 290 | 0.0138 | -17 | c.836 others(34): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 5/9 | chr7 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98018218 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 | 1 | 204 | 0.0049 | -17 | c.25- others(32): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
CRTAM_chr11_122833500_122877643 | 122861401 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0203 | 1 | 428 | 0.0023 | -17 | c.653 others(34): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 5/9 | chr11 | TogoVar | ||||||
CRTAM_chr11_122833500_122877643 | 122861412 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0184 | 1 | 428 | 0.0023 | -17 | c.653 others(34): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTC1_chr19_18678680_18787333 | 18706182 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 274 | 0.0037 | -17 | c.126 others(36): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRTC1_chr19_18678680_18787333 | 18716964 | CGTGCAGG others(10): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG03017.hp1 NA20905.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0023a0003c0004t0026 | a0001c0001t0001g0115a0003c0004t0023g0118a0003c0004t0026g0241 | 3 | 274 | 0.0110 | -17 | c.127 others(36): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90533084 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp2 others(13): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0005others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0011others(13): Show | 16 | 276 | 0.0580 | -17 | c.132 others(34): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRX_chr19_47816937_47848324 | 47827836 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG01516.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0068 | a0001c0001t0002g0139a0001c0001t0068g0117 | 2 | 344 | 0.0058 | -17 | c.-36 others(34): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRYBA2_chr2_218985190_218998422 | 218988394 | TGGACCCC others(10): Show |
T | downstream_gene_variant | MODIFIER | NA19058.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0015 | 1 | 390 | 0.0026 | -17 | c.*18 others(28): Show |
CRYBA2 | ENSG00000163499.12 | transcript | ENST00000295728.7 | protein_coding | 1795 | chr2 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218690 | AAGAGAGA others(10): Show |
A | upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 464 | 0.0022 | -17 | c.-10 others(27): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 948 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218719 | AGAGAGAG others(10): Show |
A | upstream_gene_variant | MODIFIER | HG01081.hp2 HG02735.hp2 HG03834.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0021others(3): Show | 7 | 464 | 0.0151 | -17 | c.-97 others(26): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 919 | chr22 | TogoVar | ||||||
CRYBG2_chr1_26316865_26359130 | 26326639 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | NA19090.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0215 | 1 | 376 | 0.0027 | -17 | c.457 others(36): Show |
CRYBG2 | ENSG00000176092.17 | transcript | ENST00000308182.10 | protein_coding | 17/19 | chr1 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19525615 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0172 | 1 | 238 | 0.0042 | -17 | c.-29 others(38): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19612946 | GAAAAAAA others(10): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG02145.hp2 others(1): Show |
a0001a0002 | a0001c0006a0002c0003 | a0001c0006t0002a0002c0003t0003a0002c0003t0005 | a0001c0006t0002g0135a0001c0006t0002g0136a0002c0003t0003g0109others(1): Show | 4 | 238 | 0.0168 | -17 | c.-39 others(38): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19666787 | GAAAGAAA others(10): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0016 | 1 | 238 | 0.0042 | -17 | c.-39 others(38): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSHL1_chr17_63904608_63916258 | 63912797 | CTTTCTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 438 | 0.0023 | -17 | c.-16 others(28): Show |
CSHL1 | ENSG00000204414.14 | transcript | ENST00000309894.6 | protein_coding | 1540 | chr17 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3060381 | TTGAACTC others(10): Show |
T | intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0102 | a0001c0102t0005 | a0001c0102t0005g0034 | 1 | 126 | 0.0079 | -17 | c.747 others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 49/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3083629 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0071 | a0001c0071t0069 | a0001c0071t0069g0115 | 1 | 126 | 0.0079 | -17 | c.747 others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 49/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3377108 | AAGTGATC others(10): Show |
A | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0061 | a0001c0061t0001 | a0001c0061t0001g0021 | 1 | 126 | 0.0079 | -17 | c.278 others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 18/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3660480 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0033 | a0033c0042 | a0033c0042t0004 | a0033c0042t0004g0004 | 1 | 126 | 0.0079 | -17 | c.101 others(38): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3670509 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02056.hp1 NA18982.hp1 NA19090.hp1 |
a0001a0004 | a0001c0002a0001c0102a0004c0086 | a0001c0002t0002a0001c0102t0005a0004c0086t0002 | a0001c0002t0002g0083a0001c0102t0005g0034a0004c0086t0002g0118 | 3 | 126 | 0.0238 | -17 | c.100 others(38): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3729945 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG02683.hp2 NA19060.hp1 |
a0001a0002 | a0001c0007a0002c0037 | a0001c0007t0001a0002c0037t0009 | a0001c0007t0001g0035a0002c0037t0009g0046 | 2 | 126 | 0.0159 | -17 | c.932 others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3752676 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG01071.hp2 others(37): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(37): Show | a0001c0001t0002a0001c0002t0061a0001c0003t0008others(37): Show | a0001c0001t0002g0125a0001c0002t0061g0069a0001c0003t0008g0053others(37): Show | 40 | 126 | 0.3175 | -17 | c.931 others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3796214 | TATAGATA others(10): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 |
a0001 | a0001c0046a0001c0114 | a0001c0046t0073a0001c0114t0003 | a0001c0046t0073g0091a0001c0114t0003g0119 | 2 | 126 | 0.0159 | -17 | c.819 others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4138044 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01071.hp2 HG01074.hp2 others(15): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0006a0001c0007others(14): Show | a0001c0003t0008a0001c0003t0019a0001c0006t0002others(15): Show | a0001c0003t0008g0053a0001c0003t0019g0107a0001c0006t0002g0109others(15): Show | 18 | 126 | 0.1429 | -17 | c.416 others(38): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4519742 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0030 | a0002c0030t0016 | a0002c0030t0016g0122 | 1 | 126 | 0.0079 | -17 | c.303 others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4707886 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02965.hp1 HG03195.hp2 others(1): Show |
a0003a0004a0013others(1): Show | a0003c0034a0004c0086a0013c0027others(1): Show | a0003c0034t0030a0004c0086t0002a0013c0027t0003others(1): Show | a0003c0034t0030g0038a0004c0086t0002g0118a0013c0027t0003g0099others(1): Show | 4 | 126 | 0.0318 | -17 | c.86- others(34): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4742000 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG03017.hp2 HG03579.hp1 |
a0006a0036 | a0006c0116a0036c0100 | a0006c0116t0004a0036c0100t0017 | a0006c0116t0004g0039a0036c0100t0017g0121 | 2 | 126 | 0.0159 | -17 | c.86- others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar |