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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZMAT4_chr8_40525590_40902826 | 40601575 | AAAGAAAG others(94): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 225 | 0.0044 | -101 | c.578 others(19): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
ZNF346_chr5_177017696_177072985 | 177058390 | GAACCTGG others(94): Show |
G | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 348 | 0.0029 | -101 | c.704 others(17): Show |
ZNF346 | ENSG00000113761.12 | transcript | ENST00000358149.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ZNF595_chr4_48321_93208 | 48964 | TTAATTTG others(94): Show |
T | upstream_gene_variant | MODIFIER | HG01346.hp1 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0193 a0001c0001t0010g0043 |
2 | 306 | 0.0065 | -101 | c.-45 others(11): Show |
ZNF595 | ENSG00000272602.6 | transcript | ENST00000610261.6 | protein_coding | 4356 | chr4 | TogoVar | |||||||
ZSCAN31_chr6_28319737_28341148 | 28339872 | GGCATATG others(94): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(141): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0010a0002c0002others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(10): Show | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0012 others(27): Show |
144 | 414 | 0.3478 | -101 | c.-39 others(11): Show |
ZSCAN31 | ENSG00000235109.8 | transcript | ENST00000344279.11 | protein_coding | 3725 | chr6 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967407 | ATAAATAT others(93): Show |
A | upstream_gene_variant | MODIFIER | HG01192.hp2 HG01256.hp1 HG02698.hp1 others(6): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0018 others(1): Show |
9 | 311 | 0.0289 | -100 | c.-30 others(111): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2954 | chr17 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95196582 | GAGGAAGG others(93): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp2 others(11): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0003a0001c0007others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0018others(7): Show | a0001c0002t0001g0160 a0001c0002t0001g0193 a0001c0002t0002g0116 others(11): Show |
14 | 70 | 0.2000 | -100 | c.116 others(119): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 8/30 | chr13 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1054545 | GAGGGGAC others(93): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(240): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(76): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0060 others(240): Show |
243 | 332 | 0.7319 | -100 | c.156 others(119): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 14/22 | chr17 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109194510 | GCATGTGT others(93): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(36): Show |
a0001a0002a0007others(3): Show | a0001c0002a0001c0003a0001c0018others(12): Show | a0001c0002t0001a0001c0002t0021a0001c0003t0002others(16): Show | a0001c0002t0001g0074 a0001c0002t0001g0079 a0001c0002t0001g0081 others(36): Show |
39 | 277 | 0.1408 | -100 | c.248 others(117): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 16/52 | chr12 | TogoVar | |||||||
ACR_chr22_50733204_50750339 | 50748236 | AAGGGGTG others(93): Show |
A | downstream_gene_variant | MODIFIER | HG01070.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 462 | 0.0022 | -100 | c.*30 others(111): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 2898 | chr22 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113449441 | TGAGCCCC others(93): Show |
T | intron_variant | MODIFIER | HG02615.hp2 NA18612.hp1 |
a0002a0023 | a0002c0007a0023c0042 | a0002c0007t0094a0023c0042t0001 | a0002c0007t0094g0008 a0023c0042t0001g0025 |
2 | 260 | 0.0077 | -100 | c.214 others(117): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
AKT2_chr19_40225317_40290345 | 40248808 | CAGGGAGG others(93): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00544.hp1 others(72): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0210 a0001c0001t0001g0211 others(70): Show |
75 | 358 | 0.2095 | -100 | c.288 others(117): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 4/13 | chr19 | TogoVar | |||||||
AKT2_chr19_40225317_40290345 | 40248845 | CAGGAGAT others(93): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0011a0001c0004t0034 | a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0011g0102 others(3): Show |
6 | 358 | 0.0168 | -100 | c.287 others(117): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 4/13 | chr19 | TogoVar | |||||||
AKT2_chr19_40225317_40290345 | 40248920 | CAGGAGAT others(93): Show |
C | intron_variant | MODIFIER | NA18952.hp1 NA18999.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 a0001c0001t0002g0073 a0001c0001t0002g0084 |
3 | 358 | 0.0084 | -100 | c.287 others(117): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 4/13 | chr19 | TogoVar | |||||||
AMTN_chr4_70513569_70537743 | 70516304 | ATATATAT others(93): Show |
A | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00738.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0011 a0001c0002t0001g0024 others(2): Show |
10 | 450 | 0.0222 | -100 | c.-23 others(111): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2264 | chr4 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107368450 | GTATTCCT others(93): Show |
G | intron_variant | MODIFIER | HG02004.hp2 HG02895.hp1 HG03490.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0100 a0001c0001t0003g0001 a0001c0001t0003g0091 |
4 | 9 | 0.4444 | -100 | c.298 others(119): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
ANTXR1_chr2_69008179_69254327 | 69096279 | AGGAAGGA others(93): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013 | a0001c0001t0001g0184 a0001c0001t0003g0182 a0001c0001t0013g0183 |
3 | 204 | 0.0147 | -100 | c.703 others(117): Show |
ANTXR1 | ENSG00000169604.21 | transcript | ENST00000303714.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144561506 | ACTCCAGT others(93): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0156 | 1 | 244 | 0.0041 | -100 | c.513 others(117): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 3/11 | chr8 | TogoVar | |||||||
ARHGAP8_chr22_44747575_44867784 | 44800588 | TGGGGGGC others(93): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01168.hp1 HG01256.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003others(1): Show | a0001c0001t0003a0001c0007t0001a0002c0003t0004others(1): Show | a0001c0001t0003g0023 a0001c0007t0001g0140 a0001c0007t0001g0174 others(2): Show |
5 | 380 | 0.0132 | -100 | c.80- others(115): Show |
ARHGAP8 | ENSG00000241484.10 | transcript | ENST00000356099.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ARHGAP8_chr22_44747575_44867784 | 44800757 | GCCGCCTC others(93): Show |
G | intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0006 | a0002c0006t0004 | a0002c0006t0004g0390 | 1 | 333 | 0.0030 | -100 | c.80- others(115): Show |
ARHGAP8 | ENSG00000241484.10 | transcript | ENST00000356099.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ARHGAP8_chr22_44747575_44867784 | 44800790 | GCCGCCTC others(93): Show |
G | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0012 | 1 | 267 | 0.0037 | -100 | c.80- others(115): Show |
ARHGAP8 | ENSG00000241484.10 | transcript | ENST00000356099.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ARRB2_chr17_4705632_4726497 | 4714563 | TTTCCCCT others(93): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(303): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(77): Show |
306 | 379 | 0.8074 | -100 | c.24- others(113): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33269651 | CTTCCTTC others(93): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01175.hp2 HG02698.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0007a0001c0004t0001 | a0001c0001t0003g0076 a0001c0001t0007g0239 a0001c0004t0001g0141 others(1): Show |
4 | 238 | 0.0168 | -100 | c.708 others(119): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112803942 | CCCCTCCT others(93): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0014 | a0001c0014t0045 | a0001c0014t0045g0056 | 1 | 250 | 0.0040 | -100 | c.163 others(115): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70937030 | TGCTCACT others(93): Show |
T | intron_variant | MODIFIER | HG02071.hp1 HG02572.hp1 HG02738.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0006a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0006g0363 a0001c0002t0001g0006 a0001c0002t0001g0185 others(4): Show |
10 | 434 | 0.0230 | -100 | c.118 others(117): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50086649 | AATAAAAT others(93): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02818.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 |
3 | 252 | 0.0119 | -100 | c.29- others(117): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79246087 | CCTGACTG others(93): Show |
C | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0124 | 1 | 295 | 0.0034 | -100 | c.110 others(119): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79246097 | TGGAGGGC others(93): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG03195.hp1 |
a0001 | a0001c0011a0001c0014 | a0001c0011t0006a0001c0014t0006 | a0001c0011t0006g0105 a0001c0014t0006g0097 |
2 | 294 | 0.0068 | -100 | c.110 others(119): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167875983 | ACACGTAT others(93): Show |
A | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01258.hp1 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0016 | a0001c0001t0011g0110 a0001c0001t0016g0053 a0001c0001t0016g0077 |
3 | 109 | 0.0275 | -100 | c.*59 others(111): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1939 | chr2 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167876014 | TATACGTA others(93): Show |
T | downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0109 | 1 | 116 | 0.0086 | -100 | c.*59 others(111): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1970 | chr2 | TogoVar | |||||||
BBS9_chr7_33124564_33611069 | 33309289 | GTTTCCAA others(93): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG01975.hp1 HG01981.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0020a0001c0026others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 others(27): Show |
30 | 266 | 0.1128 | -100 | c.101 others(121): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BRAF_chr7_140714337_140929929 | 140752918 | TAGAATAA others(93): Show |
T | intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0164 | 1 | 188 | 0.0053 | -100 | c.198 others(117): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 16/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140752918 | TAGAATAA others(93): Show |
T | intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0169 | 1 | 194 | 0.0052 | -100 | c.186 others(117): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 15/17 | chr7 | TogoVar | |||||||
C12orf56_chr12_64259762_64395758 | 64366817 | TACAGTTT others(93): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(42): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0003t0001a0002c0002t0001others(4): Show | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0027 others(42): Show |
45 | 310 | 0.1452 | -100 | c.253 others(119): Show |
C12orf56 | ENSG00000185306.13 | transcript | ENST00000543942.7 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
C17orf78_chr17_37370985_37397708 | 37390023 | TGCCTGCA others(93): Show |
T | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 440 | 0.0023 | -100 | c.750 others(115): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 6/6 | chr17 | TogoVar | |||||||
C19orf47_chr19_40314536_40353397 | 40349107 | CTTTAAAT others(93): Show |
C | upstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 382 | 0.0026 | -100 | c.-91 others(109): Show |
C19orf47 | ENSG00000160392.14 | transcript | ENST00000683109.1 | protein_coding | 711 | chr19 | TogoVar | |||||||
C3_chr19_6672704_6725650 | 6710163 | AGAGAGGG others(93): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(90): Show |
a0001a0003a0004others(5): Show | a0001c0003a0001c0004a0001c0016others(17): Show | a0001c0003t0001a0001c0004t0001a0001c0004t0003others(19): Show | a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0034 others(87): Show |
93 | 368 | 0.2527 | -100 | c.168 others(117): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 13/40 | chr19 | TogoVar | |||||||
C7orf33_chr7_148585766_148620860 | 148595571 | TATATAAT others(93): Show |
T | intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0293 | 1 | 441 | 0.0023 | -100 | c.204 others(117): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49318496 | GGGAAAGG others(93): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02698.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0007 | a0001c0001t0001g0094 a0001c0002t0001g0267 a0001c0002t0007g0320 others(2): Show |
5 | 136 | 0.0368 | -100 | c.835 others(117): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CADM4_chr19_43617368_43644850 | 43643681 | TGAATAGT others(93): Show |
T | upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 404 | 0.0025 | -100 | c.-39 others(111): Show |
CADM4 | ENSG00000105767.3 | transcript | ENST00000222374.3 | protein_coding | 3832 | chr19 | TogoVar | |||||||
CALML5_chr10_5493697_5504570 | 5503950 | ACACCTCC others(93): Show |
A | upstream_gene_variant | MODIFIER | HG03927.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 1 | 442 | 0.0023 | -100 | c.-46 others(111): Show |
CALML5 | ENSG00000178372.8 | transcript | ENST00000380332.5 | protein_coding | 4381 | chr10 | TogoVar | |||||||
CAMSAP2_chr1_200733893_200865704 | 200817163 | CACGTGTG others(93): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG03453.hp1 |
a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0029 a0001c0002t0013g0030 |
2 | 364 | 0.0055 | -100 | c.645 others(117): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CARD6_chr5_40836367_40860354 | 40847124 | CACTCTAG others(93): Show |
C | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069 | 1 | 438 | 0.0023 | -100 | c.841 others(117): Show |
CARD6 | ENSG00000132357.14 | transcript | ENST00000254691.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25275201 | GCCTGGCC others(93): Show |
G | upstream_gene_variant | MODIFIER | HG02615.hp1 HG02717.hp2 HG02895.hp2 others(4): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0002t0011a0001c0009t0011others(4): Show | a0001c0001t0001g0042 a0001c0002t0011g0044 a0001c0009t0011g0046 others(4): Show |
7 | 184 | 0.0380 | -100 | c.-45 others(111): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 4172 | chr6 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10744631 | TGGGCACC others(93): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG02723.hp2 HG03139.hp2 others(1): Show |
a0001a0004a0005others(1): Show | a0001c0002a0004c0005a0005c0018others(1): Show | a0001c0002t0049a0004c0005t0001a0005c0018t0012others(1): Show | a0001c0002t0049g0227 a0004c0005t0001g0107 a0005c0018t0012g0177 others(1): Show |
4 | 234 | 0.0171 | -100 | c.-77 others(119): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CATSPERG_chr19_38330830_38375943 | 38344661 | CCATACCT others(93): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG00735.hp2 others(78): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0003a0004c0006others(3): Show | a0001c0001t0001a0002c0003t0001a0004c0006t0001others(3): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0002c0003t0001g0011 others(76): Show |
81 | 257 | 0.3152 | -100 | c.669 others(115): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 6/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CCDC126_chr7_23592382_23649708 | 23637224 | CGGCCGGC others(93): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01256.hp2 HG01261.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0018 | a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 others(27): Show |
30 | 378 | 0.0794 | -100 | c.239 others(117): Show |
CCDC126 | ENSG00000169193.12 | transcript | ENST00000307471.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC73_chr11_32597721_32799662 | 32755857 | GTATATAT others(93): Show |
G | intron_variant | MODIFIER | HG03927.hp1 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0190 |
2 | 92 | 0.0217 | -100 | c.135 others(117): Show |
CCDC73 | ENSG00000186714.13 | transcript | ENST00000335185.10 | protein_coding | 2/17 | chr11 | TogoVar | |||||||
CCDC73_chr11_32597721_32799662 | 32755883 | GTATATAT others(93): Show |
G | intron_variant | MODIFIER | HG03209.hp1 NA19080.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0147 a0001c0003t0001g0158 |
2 | 78 | 0.0256 | -100 | c.135 others(117): Show |
CCDC73 | ENSG00000186714.13 | transcript | ENST00000335185.10 | protein_coding | 2/17 | chr11 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61942997 | TGAGGAGC others(93): Show |
T | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG01099.hp1 others(8): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0002c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0004t0001others(3): Show | a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0002g0059 others(8): Show |
11 | 84 | 0.1310 | -100 | c.*60 others(111): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2381 | chr20 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61943195 | GACGAGGA others(93): Show |
G | downstream_gene_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0060 | 1 | 75 | 0.0133 | -100 | c.*62 others(111): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2579 | chr20 | TogoVar |