| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CAMTA1_chr1_6780454_7774706 | 7114745 | CTGAGTCC others(91): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02630.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0020a0001c0005t0005 | a0001c0001t0002g0001a0001c0001t0020g0049a0001c0005t0005g0044 | 3 | 58 | 0.0517 | -98 | c.302 others(117): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CCDC126_chr7_23592382_23649708 | 23637451 | CGGCCAGC others(91): Show |
C | intron_variant | MODIFIER | NA18944.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113a0001c0001t0001g0161 | 2 | 380 | 0.0053 | -98 | c.239 others(115): Show |
CCDC126 | ENSG00000169193.12 | transcript | ENST00000307471.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CCDC60_chr12_119329729_119546040 | 119360286 | AGGGGGCT others(91): Show |
A | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 256 | 0.0039 | -98 | c.90+ others(115): Show |
CCDC60 | ENSG00000183273.7 | transcript | ENST00000327554.3 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CCDC73_chr11_32597721_32799662 | 32755796 | TATGTGTA others(91): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG03516.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0133a0001c0003t0001g0142 | 2 | 312 | 0.0064 | -98 | c.135 others(115): Show |
CCDC73 | ENSG00000186714.13 | transcript | ENST00000335185.10 | protein_coding | 2/17 | chr11 | TogoVar | ||||||
| CDH7_chr18_65746012_65895337 | 65782022 | CTTTCTCC others(91): Show |
C | intron_variant | MODIFIER | HG03831.hp2 HG04115.hp1 NA18942.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0002a0002c0002t0042a0002c0002t0097others(1): Show | a0001c0001t0002g0041a0002c0002t0042g0022a0002c0002t0097g0065others(1): Show | 4 | 208 | 0.0192 | -98 | c.210 others(117): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CDYL_chr6_4771404_4960544 | 4895332 | TGTGCATA others(91): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02451.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0002t0006a0001c0003t0001others(5): Show | a0001c0001t0003g0109a0001c0002t0006g0170a0001c0003t0001g0035others(14): Show | 17 | 250 | 0.0680 | -98 | c.691 others(115): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
| CELF1_chr11_47460937_47558132 | 47541696 | AAGAAAGA others(91): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00621.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0023 | a0001c0001t0002g0025a0001c0001t0002g0028a0001c0001t0002g0030others(28): Show | 31 | 340 | 0.0912 | -98 | c.-15 others(119): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
| CEL_chr9_133056981_133076861 | 133071304 | CCCCCCCC others(91): Show |
C | frameshift_variant | HIGH | HG00735.hp2 HG02165.hp2 HG02602.hp1 others(4): Show |
a0005a0030 | a0005c0081a0005c0085a0005c0086others(4): Show | a0005c0081t0001a0005c0085t0001a0005c0086t0001others(4): Show | a0005c0081t0001g0010a0005c0085t0001g0010a0005c0086t0001g0007others(4): Show | 7 | 416 | 0.0168 | -98 | c.181 others(107): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1832/2381 | 1810/2262 | 604/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| CEL_chr9_133056981_133076861 | 133071337 | CCCCCCCC others(91): Show |
C | frameshift_variant | HIGH | NA19072.hp1 | a0008 | a0008c0098 | a0008c0098t0001 | a0008c0098t0001g0004 | 1 | 416 | 0.0024 | -98 | c.184 others(107): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1865/2381 | 1843/2262 | 615/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| CEL_chr9_133056981_133076861 | 133071366 | GGGGCCCC others(91): Show |
G | frameshift_variant | HIGH | NA18979.hp1 | a0048 | a0048c0178 | a0048c0178t0001 | a0048c0178t0001g0010 | 1 | 416 | 0.0024 | -98 | c.186 others(107): Show |
p.Ala others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1890/2381 | 1868/2262 | 623/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| CEL_chr9_133056981_133076861 | 133071403 | CCCCCCCC others(91): Show |
C | frameshift_variant | HIGH | HG02293.hp1 NA18987.hp1 NA19003.hp2 others(1): Show |
a0006 | a0006c0026a0006c0126a0006c0218 | a0006c0026t0001a0006c0126t0001a0006c0218t0001 | a0006c0026t0001g0004a0006c0026t0001g0038a0006c0126t0001g0003others(1): Show | 4 | 416 | 0.0096 | -98 | c.190 others(107): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1931/2381 | 1909/2262 | 637/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| CEL_chr9_133056981_133076861 | 133071432 | GGGGCCCC others(91): Show |
G | frameshift_variant | HIGH | HG00280.hp1 HG00642.hp1 HG01175.hp2 others(2): Show |
a0001a0007a0010 | a0001c0191a0007c0114a0010c0040others(1): Show | a0001c0191t0001a0007c0114t0001a0010c0040t0001others(1): Show | a0001c0191t0001g0026a0007c0114t0001g0008a0010c0040t0001g0002others(1): Show | 5 | 416 | 0.0120 | -98 | c.194 others(107): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1964/2381 | 1942/2262 | 648/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| CEL_chr9_133056981_133076861 | 133071465 | GGGGCCCC others(91): Show |
G | frameshift_variant | HIGH | HG01433.hp2 HG01934.hp2 |
a0004a0050 | a0004c0233a0050c0208 | a0004c0233t0001a0050c0208t0001 | a0004c0233t0001g0002a0050c0208t0001g0002 | 2 | 416 | 0.0048 | -98 | c.196 others(107): Show |
p.Ala others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1988/2381 | 1966/2262 | 656/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| CEL_chr9_133056981_133076861 | 133071469 | CCCCCCCC others(91): Show |
C | frameshift_variant | HIGH | HG02055.hp1 | a0006 | a0006c0142 | a0006c0142t0001 | a0006c0142t0001g0051 | 1 | 416 | 0.0024 | -98 | c.197 others(107): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1997/2381 | 1975/2262 | 659/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| CEP44_chr4_174278911_174325328 | 174294961 | ACGGCTGG others(91): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01255.hp1 HG01256.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0023a0002c0002t0025 | a0002c0002t0005g0014a0002c0002t0005g0172a0002c0002t0005g0173others(7): Show | 12 | 388 | 0.0309 | -98 | c.-14 others(117): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CERCAM_chr9_128415857_128442347 | 128437888 | CACATACA others(91): Show |
C | downstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 400 | 0.0025 | -98 | c.*10 others(109): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 542 | chr9 | TogoVar | ||||||
| CFAP54_chr12_96484577_96880555 | 96664689 | GTATATAT others(91): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG02735.hp2 others(5): Show |
a0002a0004a0060 | a0002c0003a0004c0011a0004c0081others(1): Show | a0002c0003t0001a0002c0003t0002a0004c0011t0001others(2): Show | a0002c0003t0001g0171a0002c0003t0002g0174a0004c0011t0001g0117others(5): Show | 8 | 268 | 0.0299 | -98 | c.556 others(115): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CHRFAM7A_chr15_30355566_30398540 | 30375778 | AGTGTTGA others(91): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00738.hp1 others(10): Show |
a0002a0003 | a0002c0010a0003c0003a0003c0019others(1): Show | a0002c0010t0021a0003c0003t0002a0003c0003t0019others(4): Show | a0002c0010t0021g0016a0003c0003t0002g0006a0003c0003t0002g0008others(10): Show | 13 | 133 | 0.0977 | -98 | c.160 others(115): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
| CLDN4_chr7_73825996_73837690 | 73836179 | AGGGGGGT others(91): Show |
A | downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 372 | 0.0027 | -98 | c.*43 others(109): Show |
CLDN4 | ENSG00000189143.10 | transcript | ENST00000340958.4 | protein_coding | 3490 | chr7 | TogoVar | ||||||
| CLEC3A_chr16_78017548_78037101 | 78034408 | AACCTTAC others(91): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG01516.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0026a0001c0001t0001g0042a0001c0001t0001g0043others(1): Show | 9 | 448 | 0.0201 | -98 | c.*35 others(109): Show |
CLEC3A | ENSG00000166509.12 | transcript | ENST00000299642.10 | protein_coding | 2308 | chr16 | TogoVar | ||||||
| CLN8_chr8_1758789_1791570 | 1763524 | CCCCCCGC others(91): Show |
C | upstream_gene_variant | MODIFIER | HG02818.hp1 HG02970.hp1 HG03139.hp1 |
a0003 | a0003c0003 | a0003c0003t0026a0003c0003t0060 | a0003c0003t0026g0052a0003c0003t0060g0141 | 3 | 413 | 0.0073 | -98 | c.-48 others(107): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 264 | chr8 | TogoVar | ||||||
| CLN8_chr8_1758789_1791570 | 1763547 | GCCGCGCC others(91): Show |
G | upstream_gene_variant | MODIFIER | HG03130.hp1 NA18971.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0018a0001c0001t0011g0009a0001c0001t0011g0058 | 3 | 413 | 0.0073 | -98 | c.-46 others(107): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 241 | chr8 | TogoVar | ||||||
| CLPX_chr15_65143219_65190342 | 65146008 | AATATATA others(91): Show |
A | downstream_gene_variant | MODIFIER | HG02523.hp2 HG02683.hp1 HG03239.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0048a0001c0001t0001g0084a0001c0001t0001g0106others(1): Show | 4 | 190 | 0.0211 | -98 | c.*47 others(109): Show |
CLPX | ENSG00000166855.9 | transcript | ENST00000300107.7 | protein_coding | 2210 | chr15 | TogoVar | ||||||
| CLSTN2_chr3_139930185_140582397 | 140490008 | GTACATGT others(91): Show |
G | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0084 | 1 | 110 | 0.0091 | -98 | c.134 others(119): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CNIH4_chr1_224351879_224384452 | 224378516 | ACTGAGGC others(91): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0108 | 1 | 324 | 0.0031 | -98 | c.*29 others(109): Show |
CNIH4 | ENSG00000143771.12 | transcript | ENST00000465271.6 | protein_coding | 5/5 | 2996 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
| CNOT6_chr5_180489379_180583358 | 180534806 | CCTGGGGT others(91): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0004a0001c0001t0018g0005a0001c0001t0018g0007 | 3 | 334 | 0.0090 | -98 | c.112 others(115): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CNTNAP2_chr7_146111801_148425998 | 147084328 | CTATATAT others(91): Show |
C | intron_variant | MODIFIER | HG02976.hp1 HG02976.hp2 |
a0001 | a0001c0003a0001c0015 | a0001c0003t0020a0001c0015t0001 | a0001c0003t0020g0017a0001c0015t0001g0011 | 2 | 40 | 0.0500 | -98 | c.551 others(117): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 4/23 | chr7 | TogoVar | ||||||
| COL4A2_chr13_110302284_110518209 | 110355661 | GTAGCTCA others(91): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp2 others(55): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(39): Show | a0001c0001t0001g0231a0001c0001t0003g0064a0001c0001t0004g0348others(55): Show | 58 | 372 | 0.1559 | -98 | c.100 others(115): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| COL6A1_chr21_45976770_46010048 | 46006015 | GCCCGGGG others(91): Show |
G | downstream_gene_variant | MODIFIER | HG01123.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0041 | 1 | 128 | 0.0078 | -98 | c.*20 others(109): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 968 | chr21 | TogoVar | ||||||
| COL6A1_chr21_45976770_46010048 | 46006190 | CGCAGTGA others(91): Show |
C | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02717.hp2 |
a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0048a0001c0009t0002g0086 | 2 | 128 | 0.0156 | -98 | c.*21 others(109): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1143 | chr21 | TogoVar | ||||||
| CPNE4_chr3_131528569_132040014 | 131952457 | GTCCGGGA others(91): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01169.hp2 HG01884.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0036others(10): Show | 13 | 94 | 0.1383 | -98 | c.-1- others(115): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
| CPSF2_chr14_92116969_92177145 | 92173323 | ATATATAT others(91): Show |
A | downstream_gene_variant | MODIFIER | HG02165.hp1 NA18946.hp1 NA19030.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021a0001c0001t0068others(2): Show | a0001c0001t0003g0055a0001c0001t0021g0004a0001c0001t0068g0125others(2): Show | 5 | 388 | 0.0129 | -98 | c.*11 others(111): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 1179 | chr14 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4486132 | TATATACA others(91): Show |
T | intron_variant | MODIFIER | HG03130.hp1 HG03579.hp2 |
a0001a0020 | a0001c0026a0020c0024 | a0001c0026t0006a0020c0024t0077 | a0001c0026t0006g0093a0020c0024t0077g0104 | 2 | 126 | 0.0159 | -98 | c.303 others(117): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
| DCBLD2_chr3_98790941_98906695 | 98836799 | CGGGGTGG others(91): Show |
C | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0124 | 1 | 330 | 0.0030 | -98 | c.572 others(117): Show |
DCBLD2 | ENSG00000057019.16 | transcript | ENST00000326840.11 | protein_coding | 3/15 | chr3 | TogoVar | ||||||
| DCBLD2_chr3_98790941_98906695 | 98837062 | TCTCCCTC others(91): Show |
T | intron_variant | MODIFIER | HG00609.hp1 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225a0001c0001t0001g0228 | 2 | 330 | 0.0061 | -98 | c.572 others(117): Show |
DCBLD2 | ENSG00000057019.16 | transcript | ENST00000326840.11 | protein_coding | 3/15 | chr3 | TogoVar | ||||||
| DEFB124_chr20_31460471_31480127 | 31471278 | ACCTCCCG others(91): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 362 | 0.0028 | -98 | c.58+ others(113): Show |
DEFB124 | ENSG00000180383.4 | transcript | ENST00000317676.3 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
| DEPDC1B_chr5_60591912_60705166 | 60667991 | TTATATAT others(91): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01361.hp2 HG01516.hp2 others(21): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0004a0001c0001t0001g0148a0001c0001t0001g0149others(20): Show | 24 | 292 | 0.0822 | -98 | c.314 others(117): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 322584 | CTGTTAGA others(91): Show |
C | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 88 | 0.0114 | -98 | c.392 others(117): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 322618 | GGCGAGAG others(91): Show |
G | intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0043 | 1 | 88 | 0.0114 | -98 | c.392 others(117): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 323104 | CTCCGGCG others(91): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0008a0001c0009t0001g0007 | 2 | 88 | 0.0227 | -98 | c.392 others(117): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 323157 | AGTGAGAG others(91): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 88 | 0.0114 | -98 | c.392 others(117): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 323159 | TGAGAGAC others(91): Show |
T | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0069 | 1 | 88 | 0.0114 | -98 | c.392 others(117): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 454512 | GCATCAGC others(91): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG02280.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(11): Show | a0001c0001t0002g0004a0001c0001t0002g0025a0001c0002t0001g0061others(18): Show | 21 | 88 | 0.2386 | -98 | c.269 others(117): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 3/36 | chr10 | TogoVar | ||||||
| DLC1_chr8_13078361_13519851 | 13453393 | TATATATA others(91): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0006 | a0002c0006t0035 | a0002c0006t0035g0016 | 1 | 212 | 0.0047 | -98 | c.102 others(119): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 2/17 | chr8 | TogoVar | ||||||
| DLG2_chr11_83450173_85632344 | 84502202 | CCTTCCTT others(91): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 14 | 0.0714 | -98 | c.519 others(117): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 7/27 | chr11 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1015387 | AGACGACG others(91): Show |
A | intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0018 | 1 | 40 | 0.0250 | -98 | c.73+ others(117): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1246899 | CAGCAAGA others(91): Show |
C | intron_variant | MODIFIER | HG02818.hp1 HG02922.hp1 |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0027a0003c0005t0002 | a0001c0002t0027g0023a0003c0005t0002g0031 | 2 | 40 | 0.0500 | -98 | c.74- others(115): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | chr8 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1346675 | CATACAGA others(91): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01361.hp2 NA20300.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0023a0001c0003t0013 | a0001c0002t0001g0019a0001c0002t0023g0005a0001c0003t0013g0007 | 3 | 40 | 0.0750 | -98 | c.106 others(117): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DNAJC22_chr12_49341888_49358690 | 49354569 | GATTTCTT others(91): Show |
G | downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 362 | 0.0028 | -98 | c.*30 others(109): Show |
DNAJC22 | ENSG00000178401.16 | transcript | ENST00000549441.7 | protein_coding | 880 | chr12 | TogoVar | ||||||
| DOCK11_chrX_118490815_118691147 | 118647951 | AATAATAT others(91): Show |
A | intron_variant | MODIFIER | HG00099.hp2 NA20805.hp1 |
a0002 | a0002c0008a0002c0020 | a0002c0008t0001a0002c0020t0001 | a0002c0008t0001g0040a0002c0020t0001g0121 | 2 | 211 | 0.0095 | -98 | c.439 others(115): Show |
DOCK11 | ENSG00000147251.16 | transcript | ENST00000276202.9 | protein_coding | 40/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar |