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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CREM_chr10_35121846_35217953 | 35217829 | CTTTTTTT others(10): Show |
C | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 41 | 0.0244 | -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 | a0001c0001t0079 | a0001c0001t0079g0013 | 1 | 322 | 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 | 382 | 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 | a0001c0001t0007g0243 | 1 | 314 | 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 | a0001c0001t0001g0104 | 1 | 171 | 0.0058 | -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 | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 others(4): Show |
12 | 400 | 0.0300 | -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 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(66): Show |
109 | 110 | 0.9909 | -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(6): Show | a0001c0001t0001g0021 a0001c0001t0001g0336 a0001c0001t0001g0337 others(80): Show |
96 | 129 | 0.7442 | -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 | a0001c0002t0009g0091 a0001c0002t0009g0296 a0001c0002t0009g0298 others(1): Show |
4 | 322 | 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 | a0001c0001t0004a0001c0001t0026 | a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0026g0135 |
3 | 364 | 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 | a0001c0001t0013 | a0001c0001t0013g0026 a0001c0001t0013g0176 a0001c0001t0013g0202 others(1): Show |
4 | 364 | 0.0110 | -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 |
a0034a0045 | a0034c0088a0045c0082 | a0034c0088t0003a0045c0082t0001 | a0034c0088t0003g0169 a0045c0082t0001g0168 |
2 | 302 | 0.0066 | -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 | a0038 | a0038c0052 | a0038c0052t0001 | a0038c0052t0001g0003 | 1 | 241 | 0.0041 | -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 | a0004c0004t0001g0055 | 1 | 319 | 0.0031 | -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 | a0004c0004t0001g0082 | 1 | 269 | 0.0037 | -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 | a0003c0003t0001g0067 a0004c0004t0001g0079 a0005c0005t0003g0078 |
3 | 251 | 0.0120 | -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 | a0029 | a0029c0072 | a0029c0072t0002 | a0029c0072t0002g0242 | 1 | 347 | 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 | a0001c0001t0001g0177 a0001c0001t0001g0191 a0001c0001t0002g0295 others(10): Show |
13 | 338 | 0.0385 | -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 | a0001c0001t0003a0001c0001t0005a0001c0001t0058others(1): Show | a0001c0001t0003g0199 a0001c0001t0005g0178 a0001c0001t0058g0186 others(1): Show |
4 | 237 | 0.0169 | -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 | a0001c0002t0001g0054 | 1 | 202 | 0.0050 | -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 | a0002c0002t0005g0183 | 1 | 425 | 0.0024 | -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 | a0002c0002t0010g0166 | 1 | 382 | 0.0026 | -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 | a0001c0001t0003g0044 | 1 | 30 | 0.0333 | -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 | a0001c0001t0001g0025 a0003c0004t0023g0029 a0003c0004t0026g0220 |
3 | 272 | 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 | a0001c0001t0001a0001c0001t0003a0001c0004t0004others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 others(13): Show |
16 | 77 | 0.2078 | -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 | a0001c0001t0002a0001c0001t0067 | a0001c0001t0002g0132 a0001c0001t0067g0110 |
2 | 53 | 0.0377 | -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 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0015 | 1 | 388 | 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 | 291 | 0.0034 | -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 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0021 others(3): Show |
7 | 462 | 0.0152 | -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 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0214 | 1 | 374 | 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 | 36 | 0.0278 | -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 | a0001c0006t0002g0135 a0001c0006t0002g0136 a0002c0003t0003g0109 others(1): Show |
4 | 46 | 0.0870 | -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 | 225 | 0.0044 | -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 | 436 | 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 | a0001c0071t0067 | a0001c0071t0067g0115 | 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 | a0018 | a0018c0042 | a0018c0042t0004 | a0018c0042t0004g0004 | 1 | 30 | 0.0333 | -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 |
a0001a0003 | a0001c0002a0001c0102a0003c0086 | a0001c0002t0002a0001c0102t0005a0003c0086t0002 | a0001c0002t0002g0083 a0001c0102t0005g0034 a0003c0086t0002g0118 |
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 | a0001c0007t0001g0035 a0002c0037t0009g0046 |
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 | a0001c0001t0002g0125 a0001c0002t0061g0069 a0001c0003t0008g0053 others(37): Show |
40 | 58 | 0.6897 | -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 | a0001c0046t0073g0091 a0001c0114t0003g0119 |
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 | a0001c0003t0008g0053 a0001c0003t0019g0107 a0001c0006t0002g0109 others(15): Show |
18 | 23 | 0.7826 | -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 | a0002c0030t0018 | a0002c0030t0018g0122 | 1 | 6 | 0.1667 | -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 |
a0003a0004a0024others(1): Show | a0003c0086a0004c0034a0024c0052others(1): Show | a0003c0086t0002a0004c0034t0029a0024c0052t0049others(1): Show | a0003c0086t0002g0118 a0004c0034t0029g0038 a0024c0052t0049g0098 others(1): Show |
4 | 7 | 0.5714 | -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 |
a0007a0026 | a0007c0116a0026c0100 | a0007c0116t0004a0026c0100t0016 | a0007c0116t0004g0039 a0026c0100t0016g0121 |
2 | 5 | 0.4000 | -17 | c.86- others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4795252 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG03130.hp2 HG03209.hp2 |
a0002a0008a0028 | a0002c0060a0008c0088a0028c0044 | a0002c0060t0007a0008c0088t0076a0028c0044t0071 | a0002c0060t0007g0094 a0008c0088t0076g0057 a0028c0044t0071g0085 |
3 | 16 | 0.1875 | -17 | c.86- others(36): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33510167 | AGGGAGAG others(10): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG01071.hp1 others(21): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0040a0001c0047others(20): Show | a0001c0001t0001a0001c0040t0001a0001c0047t0001others(20): Show | a0001c0001t0001g0033 a0001c0001t0001g0062 a0001c0040t0001g0010 others(21): Show |
24 | 64 | 0.3750 | -17 | c.*64 others(28): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3830 | chr1 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112405213 | CCATATAT others(10): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 |
a0005 | a0005c0008 | a0005c0008t0005 | a0005c0008t0005g0004 a0005c0008t0005g0005 |
2 | 57 | 0.0351 | -17 | c.580 others(36): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 35/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112747183 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00673.hp1 NA18990.hp1 NA19043.hp1 others(1): Show |
a0001 | a0001c0006a0001c0016 | a0001c0006t0003a0001c0006t0004a0001c0016t0001 | a0001c0006t0003g0054 a0001c0006t0003g0074 a0001c0006t0004g0060 others(1): Show |
4 | 7 | 0.5714 | -17 | c.197 others(38): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar |