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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AFF2_chrX_148495617_149005663 | 148581337 | T | TACGTGTA others(179): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0063 | a0001c0001t0001g0036 a0001c0001t0063g0053 |
2 | 169 | 0.0118 | 186 | c.48- others(203): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581337 | T | TACGTGTA others(179): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0032 | 1 | 169 | 0.0059 | 186 | c.48- others(203): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 49947952 | A | ATATATAT others(179): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02896.hp1 HG03041.hp2 |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0005 | a0001c0001t0001a0002c0003t0007a0004c0005t0001 | a0001c0001t0001g0067 a0002c0003t0007g0061 a0004c0005t0001g0060 |
3 | 104 | 0.0289 | 186 | c.34+ others(203): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 357220 | G | GGAGTGGA others(179): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 268 | 0.0037 | 186 | c.244 others(203): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 357294 | C | CTCAGTCA others(179): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0200 | 1 | 268 | 0.0037 | 186 | c.244 others(203): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4735314 | T | TATATATA others(179): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 462 | 0.0022 | 186 | c.151 others(203): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4735372 | A | AATATATA others(179): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG02132.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0073 a0001c0001t0003g0274 a0001c0001t0003g0275 others(5): Show |
9 | 462 | 0.0195 | 186 | c.151 others(203): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4735390 | A | AATATATA others(179): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18968.hp2 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0007g0238 |
3 | 462 | 0.0065 | 186 | c.151 others(203): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3690433 | C | CCTCCCCT others(179): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0250 | 1 | 274 | 0.0037 | 186 | c.512 others(203): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKS1B_chr12_98738974_99989936 | 99387860 | T | TAAGAATT others(179): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0023 | 1 | 48 | 0.0208 | 186 | c.175 others(207): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 12/26 | chr12 | TogoVar | |||||||
ANO7_chr2_241183677_241230976 | 241218126 | G | GAGCGGGG others(179): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0240 | 1 | 396 | 0.0025 | 186 | c.217 others(203): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ARHGDIG_chr16_275591_288010 | 285902 | T | TCCCAACC others(179): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 HG03540.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 3 | 442 | 0.0068 | 186 | c.*30 others(197): Show |
ARHGDIG | ENSG00000242173.10 | transcript | ENST00000219409.8 | protein_coding | 2893 | chr16 | TogoVar | |||||||
ARHGDIG_chr16_275591_288010 | 285902 | T | TCCCAACC others(179): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0016 | a0001c0001t0006g0005 a0001c0001t0016g0005 |
2 | 442 | 0.0045 | 186 | c.*30 others(197): Show |
ARHGDIG | ENSG00000242173.10 | transcript | ENST00000219409.8 | protein_coding | 2893 | chr16 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1889400 | A | ATCTGTGA others(179): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0103 | a0001c0103t0001 | a0001c0103t0001g0040 | 1 | 363 | 0.0028 | 186 | c.118 others(205): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF7_chr13_111110310_111310732 | 111221344 | T | TATAGATA others(179): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0144 a0001c0001t0008g0017 |
2 | 274 | 0.0073 | 186 | c.670 others(203): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ARL13B_chr3_93975155_94060678 | 94043558 | C | CTCCCCCC others(179): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 | 1 | 264 | 0.0038 | 186 | c.102 others(203): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | chr3 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049218 | A | AGAACACA others(179): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 308 | 0.0033 | 186 | c.*55 others(197): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2885 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049445 | G | GGGAACAC others(179): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0005 | 1 | 308 | 0.0033 | 186 | c.*52 others(197): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2658 | chr8 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72198311 | G | GGAGGGGG others(179): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(51): Show |
a0001a0007a0010 | a0001c0001a0007c0009a0010c0006 | a0001c0001t0001a0001c0001t0002a0007c0009t0002others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0062 a0001c0001t0001g0065 others(51): Show |
54 | 216 | 0.2500 | 186 | c.311 others(203): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 4/9 | chr10 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11487803 | A | AGTAGGGG others(179): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03540.hp2 |
a0001 | a0001c0002 | a0001c0002t0026a0001c0002t0039 | a0001c0002t0026g0281 a0001c0002t0039g0007 |
2 | 292 | 0.0069 | 186 | c.207 others(207): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATOH8_chr2_85748991_85796383 | 85767580 | T | TCCTTCCC others(179): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02922.hp1 HG03130.hp1 others(2): Show |
a0002a0004a0006 | a0002c0002a0002c0012a0004c0006others(1): Show | a0002c0002t0006a0002c0012t0006a0004c0006t0006others(1): Show | a0002c0002t0006g0308 a0002c0002t0006g0309 a0002c0012t0006g0042 others(2): Show |
5 | 378 | 0.0132 | 186 | c.960 others(203): Show |
ATOH8 | ENSG00000168874.13 | transcript | ENST00000306279.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79335982 | A | AGCCCTCC others(179): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 298 | 0.0034 | 186 | c.202 others(203): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79336043 | A | ATGCCCTC others(179): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0193 | 1 | 298 | 0.0034 | 186 | c.202 others(203): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79336063 | T | TGCTCCCC others(179): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0188 | 1 | 298 | 0.0034 | 186 | c.202 others(203): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79336102 | A | ACCATGCC others(179): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0169 | 1 | 298 | 0.0034 | 186 | c.202 others(203): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79336105 | A | ATGCCCTC others(179): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02572.hp2 HG02818.hp2 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 |
3 | 298 | 0.0101 | 186 | c.202 others(203): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79336105 | A | ATGCCCTC others(179): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0182 | 1 | 298 | 0.0034 | 186 | c.202 others(203): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79336105 | A | ATGCCCTC others(179): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02630.hp2 HG02922.hp2 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0095 a0001c0004t0002g0096 a0001c0004t0002g0097 |
3 | 298 | 0.0101 | 186 | c.202 others(203): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79336105 | A | ATGCCCTC others(179): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG03540.hp2 |
a0001 | a0001c0006 | a0001c0006t0004a0001c0006t0007 | a0001c0006t0004g0273 a0001c0006t0007g0285 a0001c0006t0007g0286 |
3 | 298 | 0.0101 | 186 | c.202 others(203): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79336105 | A | ATGCCCTC others(179): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0270 | 1 | 298 | 0.0034 | 186 | c.202 others(203): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79336105 | A | ATGCCCTC others(179): Show |
intron_variant | MODIFIER | NA18949.hp1 NA18952.hp2 NA19011.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 others(2): Show |
5 | 298 | 0.0168 | 186 | c.202 others(203): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79336125 | C | CGCTCCCC others(179): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0132 | 1 | 298 | 0.0034 | 186 | c.202 others(203): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79336167 | G | GTGCCCTC others(179): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 298 | 0.0034 | 186 | c.202 others(203): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 285902 | T | TCCCAACC others(179): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 HG03540.hp1 NA20129.hp1 |
a0001 | a0001c0007 | a0001c0007t0008 | a0001c0007t0008g0039 a0001c0007t0008g0040 a0001c0007t0008g0043 |
3 | 378 | 0.0079 | 186 | c.*22 others(197): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1537 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 285902 | T | TCCCAACC others(179): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 NA19030.hp2 |
a0001a0005 | a0001c0007a0005c0015 | a0001c0007t0008a0005c0015t0008 | a0001c0007t0008g0277 a0005c0015t0008g0281 |
2 | 378 | 0.0053 | 186 | c.*22 others(197): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1537 | chr16 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833996 | T | TAAAAATA others(179): Show |
downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 391 | 0.0026 | 186 | c.*21 others(197): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1979 | chr19 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82984480 | G | GGGGAGAG others(179): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0039a0001c0006t0018 | a0001c0001t0039g0260 a0001c0006t0018g0015 |
2 | 266 | 0.0075 | 186 | c.460 others(205): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 375020 | G | GAGGGAGG others(179): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0072 | 1 | 184 | 0.0054 | 186 | c.784 others(201): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159501205 | T | TTTATATA others(179): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0043 | 1 | 216 | 0.0046 | 186 | c.-2- others(203): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BOC_chr3_113206557_113292459 | 113236284 | A | ATATATAT others(179): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0032 | a0001c0032t0003 | a0001c0032t0003g0091 | 1 | 386 | 0.0026 | 186 | c.-81 others(205): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113236284 | A | ATATATAT others(179): Show |
intron_variant | MODIFIER | HG02015.hp2 NA19063.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 a0001c0002t0001g0056 |
2 | 386 | 0.0052 | 186 | c.-81 others(205): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113236288 | A | ATATATAT others(179): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0314 | 1 | 386 | 0.0026 | 186 | c.-81 others(205): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1431109 | G | GTCTGGTC others(179): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0116 | 1 | 360 | 0.0028 | 186 | c.92- others(201): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1431769 | G | GTCTGGTC others(179): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 360 | 0.0028 | 186 | c.92- others(201): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1438090 | T | TCCCCCAC others(179): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0002 | a0002c0002t0069 | a0002c0002t0069g0231 | 1 | 360 | 0.0028 | 186 | c.187 others(199): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
C10orf90_chr10_126419997_126675693 | 126565092 | T | TTATATAT others(179): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0012 | a0012c0019 | a0012c0019t0012 | a0012c0019t0012g0125 | 1 | 218 | 0.0046 | 186 | c.314 others(205): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176938 | T | TATGTATA others(179): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0026 | 1 | 342 | 0.0029 | 186 | c.366 others(203): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176950 | T | TATGTATA others(179): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 342 | 0.0029 | 186 | c.366 others(203): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1031396 | G | GGGGCAGA others(179): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02723.hp2 HG02886.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0281 a0002c0002t0003g0300 a0002c0002t0003g0301 others(2): Show |
5 | 326 | 0.0153 | 186 | c.130 others(205): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1031433 | G | GGGCAGAG others(179): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02809.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0014g0172 others(1): Show |
4 | 326 | 0.0123 | 186 | c.130 others(205): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar |