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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
POTEF_chr2_130068535_130134222 | 130095312 | C | CCCATGTC others(6056): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0040 | 1 | 165 | 0.0061 | 6063 | c.141 others(6082): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | TogoVar | |||||||
PTPRB_chr12_70510870_70642429 | 70626254 | T | TGAAACAG others(6056): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0005 | a0005c0048 | a0005c0048t0001 | a0005c0048t0001g0149 | 1 | 300 | 0.0033 | 6063 | c.452 others(6080): Show |
PTPRB | ENSG00000127329.16 | transcript | ENST00000334414.11 | protein_coding | 2/33 | chr12 | TogoVar | |||||||
PTPRB_chr12_70510870_70642429 | 70626254 | T | TGAAACAG others(6056): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0005 | a0005c0021 | a0005c0021t0005 | a0005c0021t0005g0154 | 1 | 300 | 0.0033 | 6063 | c.452 others(6080): Show |
PTPRB | ENSG00000127329.16 | transcript | ENST00000334414.11 | protein_coding | 2/33 | chr12 | TogoVar | |||||||
PTPRB_chr12_70510870_70642429 | 70626254 | T | TGAAACAG others(6056): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0011 | a0011c0075 | a0011c0075t0002 | a0011c0075t0002g0021 | 1 | 300 | 0.0033 | 6063 | c.452 others(6080): Show |
PTPRB | ENSG00000127329.16 | transcript | ENST00000334414.11 | protein_coding | 2/33 | chr12 | TogoVar | |||||||
PTPRB_chr12_70510870_70642429 | 70626254 | T | TGAAACAG others(6056): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01978.hp1 HG02165.hp2 others(4): Show |
a0003a0004a0005others(1): Show | a0003c0003a0004c0006a0005c0013others(2): Show | a0003c0003t0001a0004c0006t0001a0005c0013t0003others(3): Show | a0003c0003t0001g0231 a0004c0006t0001g0162 a0004c0006t0001g0163 others(4): Show |
7 | 300 | 0.0233 | 6063 | c.452 others(6080): Show |
PTPRB | ENSG00000127329.16 | transcript | ENST00000334414.11 | protein_coding | 2/33 | chr12 | TogoVar | |||||||
PTPRB_chr12_70510870_70642429 | 70626254 | T | TGAAACAG others(6056): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0033 | a0033c0050 | a0033c0050t0001 | a0033c0050t0001g0140 | 1 | 300 | 0.0033 | 6063 | c.452 others(6080): Show |
PTPRB | ENSG00000127329.16 | transcript | ENST00000334414.11 | protein_coding | 2/33 | chr12 | TogoVar | |||||||
RTL4_chrX_112078016_112462514 | 112314521 | A | AAGGACTT others(6056): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0090 | 1 | 134 | 0.0075 | 6063 | c.-28 others(6082): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112314521 | A | AAGGACTT others(6056): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0116 | 1 | 134 | 0.0075 | 6063 | c.-28 others(6082): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC10A7_chr4_146248981_146526940 | 146304129 | T | TAAGAAGT others(6056): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 244 | 0.0041 | 6063 | c.555 others(6080): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 7/11 | chr4 | TogoVar | |||||||
TBCK_chr4_106036599_106321209 | 106173846 | T | TGGCACTA others(6056): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0004 | a0001c0004t0033 | a0001c0004t0033g0013 | 1 | 320 | 0.0031 | 6063 | c.206 others(6082): Show |
TBCK | ENSG00000145348.17 | transcript | ENST00000394708.7 | protein_coding | 22/25 | chr4 | TogoVar | |||||||
TBCK_chr4_106036599_106321209 | 106173846 | T | TGGCACTA others(6056): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03540.hp2 |
a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0012 a0001c0004t0010g0014 |
2 | 320 | 0.0063 | 6063 | c.206 others(6082): Show |
TBCK | ENSG00000145348.17 | transcript | ENST00000394708.7 | protein_coding | 22/25 | chr4 | TogoVar | |||||||
TBCK_chr4_106036599_106321209 | 106173846 | T | TGGCACTA others(6056): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0011 | 1 | 320 | 0.0031 | 6063 | c.206 others(6082): Show |
TBCK | ENSG00000145348.17 | transcript | ENST00000394708.7 | protein_coding | 22/25 | chr4 | TogoVar | |||||||
TTC12_chr11_113309583_113371387 | 113332033 | A | ATGCCAAT others(6056): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0170 | 1 | 344 | 0.0029 | 6063 | c.504 others(6080): Show |
TTC12 | ENSG00000149292.17 | transcript | ENST00000529221.6 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TTLL9_chr20_31865634_31950000 | 31886517 | T | TAAGAGTA others(6056): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02148.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0103 a0001c0002t0001g0105 |
2 | 264 | 0.0076 | 6063 | c.70- others(6076): Show |
TTLL9 | ENSG00000131044.19 | transcript | ENST00000535842.6 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33797438 | T | TAAAATAA others(6057): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0091 | 1 | 224 | 0.0045 | 6064 | c.490 others(6083): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33797438 | T | TAAAATAA others(6057): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 HG02622.hp1 |
a0001a0003a0004 | a0001c0016a0003c0023a0004c0017 | a0001c0016t0001a0003c0023t0006a0004c0017t0013 | a0001c0016t0001g0208 a0003c0023t0006g0035 a0004c0017t0013g0209 |
3 | 224 | 0.0134 | 6064 | c.490 others(6083): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33797438 | T | TAAAATAA others(6057): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 224 | 0.0045 | 6064 | c.490 others(6083): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ARHGAP15_chr2_143124419_143773352 | 143253209 | T | TAAAAAGT others(6057): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 162 | 0.0062 | 6064 | c.474 others(6081): Show |
ARHGAP15 | ENSG00000075884.14 | transcript | ENST00000295095.11 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ARHGAP15_chr2_143124419_143773352 | 143253209 | T | TAAAAAGT others(6057): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 162 | 0.0062 | 6064 | c.474 others(6081): Show |
ARHGAP15 | ENSG00000075884.14 | transcript | ENST00000295095.11 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ARHGAP15_chr2_143124419_143773352 | 143253209 | T | TAAAAAGT others(6057): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 162 | 0.0062 | 6064 | c.474 others(6081): Show |
ARHGAP15 | ENSG00000075884.14 | transcript | ENST00000295095.11 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6057): Show |
intron_variant | MODIFIER | HG02683.hp1 NA18967.hp1 NA18972.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0020a0001c0002t0038 | a0001c0002t0001g0100 a0001c0002t0020g0003 a0001c0002t0020g0013 others(1): Show |
5 | 374 | 0.0134 | 6064 | c.283 others(6081): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6057): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0053 | a0001c0002t0053g0005 | 1 | 280 | 0.0036 | 6064 | c.649 others(6081): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MSRB3_chr12_65273683_65471907 | 65295461 | T | TACCACCA others(6057): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0212 | 1 | 312 | 0.0032 | 6064 | c.-51 others(6083): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NRCAM_chr7_108142649_108461436 | 108188804 | T | TTAAATTT others(6057): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0023 | a0002c0023t0019 | a0002c0023t0019g0168 | 1 | 208 | 0.0048 | 6064 | c.203 others(6081): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 20/32 | chr7 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242148259 | T | TGAAAATT others(6057): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0169 | 1 | 188 | 0.0053 | 6064 | c.736 others(6083): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242148259 | T | TGAAAATT others(6057): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0154 | 1 | 188 | 0.0053 | 6064 | c.736 others(6083): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
POTEE_chr2_131204536_131270278 | 131250924 | T | TGAAATTA others(6057): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0004 | a0004c0008 | a0004c0008t0007 | a0004c0008t0007g0262 | 1 | 288 | 0.0035 | 6064 | c.155 others(6079): Show |
POTEE | ENSG00000188219.16 | transcript | ENST00000683005.1 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
POTEF_chr2_130068535_130134222 | 130095312 | C | CCCATGTC others(6057): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02486.hp2 |
a0001a0021 | a0001c0009a0021c0037 | a0001c0009t0002a0021c0037t0012 | a0001c0009t0002g0058 a0021c0037t0012g0045 |
2 | 165 | 0.0121 | 6064 | c.141 others(6083): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | TogoVar | |||||||
POTEF_chr2_130068535_130134222 | 130095312 | C | CCCATGTC others(6057): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0039 | a0001c0039t0002 | a0001c0039t0002g0059 | 1 | 165 | 0.0061 | 6064 | c.141 others(6083): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | TogoVar | |||||||
PTPRB_chr12_70510870_70642429 | 70626254 | T | TGAAACAG others(6057): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0005 | a0005c0022 | a0005c0022t0003 | a0005c0022t0003g0151 | 1 | 300 | 0.0033 | 6064 | c.452 others(6081): Show |
PTPRB | ENSG00000127329.16 | transcript | ENST00000334414.11 | protein_coding | 2/33 | chr12 | TogoVar | |||||||
PTPRB_chr12_70510870_70642429 | 70626254 | T | TGAAACAG others(6057): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18979.hp2 |
a0004a0006 | a0004c0004a0006c0008 | a0004c0004t0021a0006c0008t0003 | a0004c0004t0021g0150 a0006c0008t0003g0156 |
2 | 300 | 0.0067 | 6064 | c.452 others(6081): Show |
PTPRB | ENSG00000127329.16 | transcript | ENST00000334414.11 | protein_coding | 2/33 | chr12 | TogoVar | |||||||
PTPRB_chr12_70510870_70642429 | 70626254 | T | TGAAACAG others(6057): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0005 | a0005c0021 | a0005c0021t0005 | a0005c0021t0005g0155 | 1 | 300 | 0.0033 | 6064 | c.452 others(6081): Show |
PTPRB | ENSG00000127329.16 | transcript | ENST00000334414.11 | protein_coding | 2/33 | chr12 | TogoVar | |||||||
PTPRB_chr12_70510870_70642429 | 70626254 | T | TGAAACAG others(6057): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0004 | a0004c0006 | a0004c0006t0014 | a0004c0006t0014g0164 | 1 | 300 | 0.0033 | 6064 | c.452 others(6081): Show |
PTPRB | ENSG00000127329.16 | transcript | ENST00000334414.11 | protein_coding | 2/33 | chr12 | TogoVar | |||||||
RTL4_chrX_112078016_112462514 | 112314521 | A | AAGGACTT others(6057): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0063 | 1 | 134 | 0.0075 | 6064 | c.-28 others(6083): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TBCK_chr4_106036599_106321209 | 106173846 | T | TGGCACTA others(6057): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0016 | 1 | 320 | 0.0031 | 6064 | c.206 others(6083): Show |
TBCK | ENSG00000145348.17 | transcript | ENST00000394708.7 | protein_coding | 22/25 | chr4 | TogoVar | |||||||
TBCK_chr4_106036599_106321209 | 106173846 | T | TGGCACTA others(6057): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0015 | 1 | 320 | 0.0031 | 6064 | c.206 others(6083): Show |
TBCK | ENSG00000145348.17 | transcript | ENST00000394708.7 | protein_coding | 22/25 | chr4 | TogoVar | |||||||
TTLL9_chr20_31865634_31950000 | 31886517 | T | TAAGAGTA others(6057): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 | 1 | 264 | 0.0038 | 6064 | c.70- others(6077): Show |
TTLL9 | ENSG00000131044.19 | transcript | ENST00000535842.6 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33797438 | T | TAAAATAA others(6058): Show |
intron_variant | MODIFIER | HG00408.hp2 HG03927.hp2 NA18957.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(1): Show | a0001c0001t0001g0024 a0001c0001t0003g0022 a0001c0001t0020g0033 others(1): Show |
4 | 224 | 0.0179 | 6065 | c.490 others(6084): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33797438 | T | TAAAATAA others(6058): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0143 | 1 | 224 | 0.0045 | 6065 | c.490 others(6084): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
AFDN_chr6_167821911_167977023 | 167884564 | T | TGAGCAGT others(6058): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0143 | 1 | 326 | 0.0031 | 6065 | c.897 others(6082): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 6/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARHGAP15_chr2_143124419_143773352 | 143253209 | T | TAAAAAGT others(6058): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 162 | 0.0062 | 6065 | c.474 others(6082): Show |
ARHGAP15 | ENSG00000075884.14 | transcript | ENST00000295095.11 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ARHGAP15_chr2_143124419_143773352 | 143253209 | T | TAAAAAGT others(6058): Show |
intron_variant | MODIFIER | HG00738.hp2 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 a0001c0001t0001g0136 |
2 | 162 | 0.0124 | 6065 | c.474 others(6082): Show |
ARHGAP15 | ENSG00000075884.14 | transcript | ENST00000295095.11 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ARHGAP15_chr2_143124419_143773352 | 143253209 | T | TAAAAAGT others(6058): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 162 | 0.0062 | 6065 | c.474 others(6082): Show |
ARHGAP15 | ENSG00000075884.14 | transcript | ENST00000295095.11 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LNX1_chr4_53454301_53596486 | 53502122 | A | ATAATAAT others(6058): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 356 | 0.0028 | 6065 | c.776 others(6082): Show |
LNX1 | ENSG00000072201.14 | transcript | ENST00000263925.8 | protein_coding | 4/10 | chr4 | TogoVar | |||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6058): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0002 | a0001c0002t0070 | a0001c0002t0070g0092 | 1 | 374 | 0.0027 | 6065 | c.283 others(6082): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6058): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02132.hp1 NA18980.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0005 a0001c0002t0016g0089 a0001c0002t0016g0091 |
4 | 374 | 0.0107 | 6065 | c.283 others(6082): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113367370 | C | CAATAATT others(6058): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0125 | 1 | 160 | 0.0063 | 6065 | c.415 others(6084): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 2/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113367370 | C | CAATAATT others(6058): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18986.hp1 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0123 a0002c0001t0002g0124 |
2 | 160 | 0.0125 | 6065 | c.415 others(6084): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 2/18 | chr5 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6058): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01496.hp2 HG02559.hp2 others(11): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0007a0001c0002t0007a0001c0007t0007others(5): Show | a0001c0001t0007g0159 a0001c0002t0007g0168 a0001c0007t0007g0033 others(11): Show |
14 | 280 | 0.0500 | 6065 | c.649 others(6082): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PGM5_chr9_68351611_68536061 | 68402264 | A | AAAAAAAT others(6058): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0061 | 1 | 246 | 0.0041 | 6065 | c.104 others(6084): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |