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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1696): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0112 | 1 | 18 | 0.0556 | 1703 | c.-28 others(1722): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1696): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0083 | 1 | 18 | 0.0556 | 1703 | c.-28 others(1722): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828722 | A | AGGAGGGA others(1696): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0090 | 1 | 61 | 0.0164 | 1703 | c.79+ others(1720): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716361 | G | GTGTTGGT others(1697): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0073 | 1 | 88 | 0.0114 | 1704 | c.86- others(1717): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185034 | C | CCCTTCTC others(1697): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0074 | 1 | 172 | 0.0058 | 1704 | c.193 others(1723): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586254 | C | CAGGGGGG others(1697): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 242 | 0.0041 | 1704 | c.157 others(1719): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 310598 | C | CTGTCCTT others(1697): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0076 | 1 | 74 | 0.0135 | 1704 | c.112 others(1721): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 7/9 | chrX | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322870 | T | TGGAATAT others(1697): Show |
upstream_gene_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0190 | 1 | 226 | 0.0044 | 1704 | c.-21 others(1715): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2099 | chr21 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859711 | A | ATGGGTGT others(1697): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0156 | 1 | 167 | 0.0060 | 1704 | c.153 others(1723): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
MBNL2_chr13_97217333_97399120 | 97339148 | A | AGTGAATG others(1697): Show |
intron_variant | MODIFIER | NA18951.hp2 NA18967.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0235 a0001c0002t0001g0237 |
2 | 252 | 0.0079 | 1704 | c.340 others(1721): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | chr13 | TogoVar | |||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1697): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 5 | 0.2000 | 1704 | c.189 others(1723): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1697): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 5 | 0.2000 | 1704 | c.189 others(1723): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RCC1L_chr7_75037183_75078802 | 75058095 | T | TTACAGTG others(1697): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01433.hp2 HG01496.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0056 others(1): Show |
4 | 52 | 0.0769 | 1704 | c.970 others(1719): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
RCC1L_chr7_75037183_75078802 | 75058095 | T | TTACAGTG others(1697): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0063 | 1 | 49 | 0.0204 | 1704 | c.970 others(1719): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
RCC1L_chr7_75037183_75078802 | 75058095 | T | TTACAGTG others(1697): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02976.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0161 |
3 | 51 | 0.0588 | 1704 | c.970 others(1719): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
RCC1L_chr7_75037183_75078802 | 75058095 | T | TTACAGTG others(1697): Show |
intron_variant | MODIFIER | HG01934.hp1 HG01952.hp1 HG01975.hp1 others(1): Show |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0002a0005c0006t0002 | a0002c0002t0002g0038 a0002c0002t0002g0064 a0002c0002t0002g0094 others(1): Show |
4 | 52 | 0.0769 | 1704 | c.970 others(1719): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
RCC1L_chr7_75037183_75078802 | 75058095 | T | TTACAGTG others(1697): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 49 | 0.0204 | 1704 | c.970 others(1719): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
RCC1L_chr7_75037183_75078802 | 75058095 | T | TTACAGTG others(1697): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0034 | 1 | 49 | 0.0204 | 1704 | c.970 others(1719): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
RCC1L_chr7_75037183_75078802 | 75058095 | T | TTACAGTG others(1697): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(117): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(5): Show | a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0202 others(101): Show |
120 | 168 | 0.7143 | 1704 | c.970 others(1719): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
RCC1L_chr7_75037183_75078802 | 75058095 | T | TTACAGTG others(1697): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02895.hp1 HG02897.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 others(2): Show |
6 | 54 | 0.1111 | 1704 | c.970 others(1719): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
RCC1L_chr7_75037183_75078802 | 75058095 | T | TTACAGTG others(1697): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG00735.hp1 others(42): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0015 others(31): Show |
45 | 93 | 0.4839 | 1704 | c.970 others(1719): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
RCC1L_chr7_75037183_75078802 | 75058095 | T | TTACAGTG others(1697): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 49 | 0.0204 | 1704 | c.970 others(1719): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
RCC1L_chr7_75037183_75078802 | 75058095 | T | TTACAGTG others(1697): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 49 | 0.0204 | 1704 | c.970 others(1719): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
RCC1L_chr7_75037183_75078802 | 75058095 | T | TTACAGTG others(1697): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01884.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 others(14): Show |
26 | 74 | 0.3514 | 1704 | c.970 others(1719): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
RCC1L_chr7_75037183_75078802 | 75058095 | T | TTACAGTG others(1697): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0059 | 1 | 49 | 0.0204 | 1704 | c.970 others(1719): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
RCC1L_chr7_75037183_75078802 | 75058095 | T | TTACAGTG others(1697): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 49 | 0.0204 | 1704 | c.970 others(1719): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1697): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0036 | a0001c0036t0001 | a0001c0036t0001g0130 | 1 | 126 | 0.0079 | 1704 | c.45- others(1719): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SLC10A7_chr4_146248981_146526940 | 146286440 | C | CTGGAGTG others(1697): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0163 a0001c0001t0007g0241 |
2 | 85 | 0.0235 | 1704 | c.774 others(1721): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146286463 | T | TTTGGAGT others(1697): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0238 | 1 | 200 | 0.0050 | 1704 | c.774 others(1721): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
SLC9A3_chr5_465456_529449 | 502907 | C | CGCCGTAA others(1697): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0008 | a0001c0008t0018 | a0001c0008t0018g0124 | 1 | 109 | 0.0092 | 1704 | c.212 others(1723): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SULT6B1_chr2_37162820_37193670 | 37166473 | T | TTCTCCTT others(1697): Show |
downstream_gene_variant | MODIFIER | NA18954.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0118 | 1 | 344 | 0.0029 | 1704 | c.*14 others(1715): Show |
SULT6B1 | ENSG00000138068.12 | transcript | ENST00000535679.6 | protein_coding | 1346 | chr2 | TogoVar | |||||||
THEG_chr19_356747_381026 | 376674 | T | TCCAGCCT others(1697): Show |
upstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0334 | 1 | 351 | 0.0028 | 1704 | c.-70 others(1713): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 649 | chr19 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129828722 | A | AGGAGGGA others(1697): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0091 | 1 | 61 | 0.0164 | 1704 | c.79+ others(1721): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATA others(1698): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 43 | 0.0465 | 1705 | c.179 others(1720): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(1698): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0002 | a0003c0002t0013 | a0003c0002t0013g0173 | 1 | 42 | 0.0238 | 1705 | c.179 others(1720): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(1698): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0133 | 1 | 42 | 0.0238 | 1705 | c.179 others(1720): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471369 | A | ACACACAT others(1698): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 78 | 0.0128 | 1705 | c.183 others(1724): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586244 | G | GAAAGGTA others(1698): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0066 | 1 | 206 | 0.0049 | 1705 | c.157 others(1720): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323368 | G | GAATATAT others(1698): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0148 | 1 | 3 | 0.3333 | 1705 | c.-16 others(1716): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1601 | chr21 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1698): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 2 | 193 | 0.0104 | 1705 | c.292 others(1724): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1698): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0182 | 1 | 192 | 0.0052 | 1705 | c.292 others(1724): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1698): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0181 | 1 | 192 | 0.0052 | 1705 | c.292 others(1724): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCCCTCCC others(1698): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0009 | 1 | 17 | 0.0588 | 1705 | c.*11 others(1726): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1698): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 a0001c0001t0001g0116 |
2 | 6 | 0.3333 | 1705 | c.189 others(1724): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1698): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01099.hp1 HG01517.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 a0001c0001t0001g0084 a0001c0001t0001g0109 others(5): Show |
8 | 12 | 0.6667 | 1705 | c.189 others(1724): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492486 | C | CTCCCCGG others(1698): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0148 | 1 | 251 | 0.0040 | 1705 | c.126 others(1724): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RCC1L_chr7_75037183_75078802 | 75058095 | T | TTACAGTG others(1698): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 49 | 0.0204 | 1705 | c.970 others(1720): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 218124 | C | CTCGCTGA others(1698): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0041 | 1 | 123 | 0.0081 | 1705 | c.727 others(1722): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98309952 | T | TGATTCTC others(1699): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0004 a0001c0005t0005g0005 a0001c0005t0005g0006 others(3): Show |
6 | 293 | 0.0205 | 1706 | c.955 others(1721): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 9/13 | chr7 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(1699): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0172 | 1 | 103 | 0.0097 | 1706 | c.300 others(1723): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |