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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAA others(2805): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 | 1 | 106 | 0.0094 | 2812 | c.353 others(2829): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LAMC2_chr1_183181264_183250127 | 183201318 | T | TGATGTGC others(2805): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0004 | a0004c0006 | a0004c0006t0008 | a0004c0006t0008g0073 | 1 | 331 | 0.0030 | 2812 | c.80- others(2827): Show |
LAMC2 | ENSG00000058085.15 | transcript | ENST00000264144.5 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MED16_chr19_862963_898187 | 871891 | C | CGGGGAGA others(2805): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 6 | 0.1667 | 2812 | c.209 others(2827): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
PHACTR4_chr1_28364740_28505364 | 28462012 | T | TTGCTTTC others(2805): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0006 | a0001c0006t0023 | a0001c0006t0023g0117 | 1 | 225 | 0.0044 | 2812 | c.271 others(2829): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2805): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 159 | 0.0063 | 2812 | c.-27 others(2829): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2805): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 159 | 0.0063 | 2812 | c.-27 others(2829): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2805): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 159 | 0.0063 | 2812 | c.-27 others(2829): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(2805): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 208 | 0.0048 | 2812 | c.115 others(2829): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294020 | C | CAGTGGAG others(2805): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 395 | 0.0025 | 2812 | c.340 others(2829): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1064797 | T | TTATGTGA others(2806): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 118 | 0.0085 | 2813 | c.118 others(2832): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
EI24_chr11_125564477_125589684 | 125589067 | A | AAGAACTA others(2806): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0030 | 1 | 322 | 0.0031 | 2813 | c.*53 others(2824): Show |
EI24 | ENSG00000149547.15 | transcript | ENST00000278903.11 | protein_coding | 4384 | chr11 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71435687 | G | GGGACGGA others(2806): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0072 | 1 | 11 | 0.0909 | 2813 | c.-16 others(2834): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(2806): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0151 | 1 | 25 | 0.0400 | 2813 | c.206 others(2834): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(2806): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02922.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0002 | a0001c0001t0005g0076 a0002c0002t0002g0057 |
2 | 26 | 0.0769 | 2813 | c.206 others(2834): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(2806): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02818.hp1 HG02895.hp1 others(3): Show |
a0001a0002 | a0001c0013a0001c0014a0002c0002others(1): Show | a0001c0013t0009a0001c0014t0002a0002c0002t0001others(2): Show | a0001c0013t0009g0159 a0001c0013t0009g0160 a0001c0014t0002g0108 others(3): Show |
6 | 30 | 0.2000 | 2813 | c.206 others(2834): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(2806): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0010 | a0002c0010t0018 | a0002c0010t0018g0020 | 1 | 25 | 0.0400 | 2813 | c.206 others(2834): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(2806): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02083.hp2 HG02451.hp2 others(2): Show |
a0001a0002a0010 | a0001c0006a0002c0002a0010c0018 | a0001c0006t0003a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0006t0003g0086 a0002c0002t0001g0067 a0002c0002t0002g0061 others(2): Show |
5 | 29 | 0.1724 | 2813 | c.206 others(2834): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(2806): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01167.hp2 HG01169.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0030others(4): Show | a0001c0001t0007a0001c0003t0005a0001c0003t0008others(7): Show | a0001c0001t0007g0045 a0001c0003t0005g0097 a0001c0003t0005g0098 others(10): Show |
13 | 37 | 0.3514 | 2813 | c.206 others(2834): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(2806): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0015 | a0001c0015t0004 | a0001c0015t0004g0104 | 1 | 25 | 0.0400 | 2813 | c.206 others(2834): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(2806): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01261.hp1 HG01346.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0133 a0001c0001t0003g0091 a0001c0001t0004g0123 others(7): Show |
10 | 34 | 0.2941 | 2813 | c.206 others(2834): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(2806): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0037 | 1 | 25 | 0.0400 | 2813 | c.206 others(2834): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(2806): Show |
intron_variant | MODIFIER | HG01981.hp2 NA18970.hp1 NA18989.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0010 a0001c0001t0003g0033 a0001c0001t0003g0035 others(1): Show |
4 | 28 | 0.1429 | 2813 | c.206 others(2834): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(2806): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0011 | a0011c0027 | a0011c0027t0011 | a0011c0027t0011g0006 | 1 | 25 | 0.0400 | 2813 | c.206 others(2834): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(2806): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0003 | a0001c0003t0028 | a0001c0003t0028g0152 | 1 | 25 | 0.0400 | 2813 | c.206 others(2834): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(2806): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01261.hp2 |
a0003 | a0003c0008 | a0003c0008t0002a0003c0008t0023 | a0003c0008t0002g0118 a0003c0008t0002g0147 a0003c0008t0023g0139 |
3 | 27 | 0.1111 | 2813 | c.206 others(2834): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(2806): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0062 | 1 | 25 | 0.0400 | 2813 | c.206 others(2834): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2806): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 159 | 0.0063 | 2813 | c.-27 others(2830): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
SLC35F2_chr11_107785991_107863787 | 107851888 | T | TTAAATAA others(2806): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 340 | 0.0029 | 2813 | c.110 others(2830): Show |
SLC35F2 | ENSG00000110660.15 | transcript | ENST00000525815.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2806): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03486.hp1 |
a0001 | a0001c0002a0001c0023 | a0001c0002t0001a0001c0023t0001 | a0001c0002t0001g0135 a0001c0023t0001g0134 |
2 | 19 | 0.1053 | 2813 | c.372 others(2828): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
STT3A_chr11_125587852_125628091 | 125589067 | A | AAGAACTA others(2806): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0036 | 1 | 324 | 0.0031 | 2813 | c.-38 others(2824): Show |
STT3A | ENSG00000134910.14 | transcript | ENST00000392708.9 | protein_coding | 3784 | chr11 | TogoVar | |||||||
USP6_chr17_5111032_5179991 | 5157923 | G | GCCCAGGC others(2806): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0146 | 1 | 358 | 0.0028 | 2813 | c.282 others(2832): Show |
USP6 | ENSG00000129204.17 | transcript | ENST00000574788.6 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7835801 | C | CAAGGTTA others(2807): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02071.hp1 HG02922.hp1 others(5): Show |
a0001 | a0001c0004a0001c0022a0001c0031 | a0001c0004t0008a0001c0004t0065a0001c0022t0024others(1): Show | a0001c0004t0008g0237 a0001c0004t0008g0238 a0001c0004t0008g0293 others(5): Show |
8 | 309 | 0.0259 | 2814 | c.726 others(2831): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
ALDH16A1_chr19_49448225_49476050 | 49461540 | G | GAGGTCTG others(2807): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0151 | 1 | 328 | 0.0030 | 2814 | c.578 others(2827): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | chr19 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716082 | G | GTGGTGGG others(2807): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0062 | 1 | 145 | 0.0069 | 2814 | c.86- others(2827): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92705644 | T | TAGTGATG others(2807): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0036 | a0001c0036t0015 | a0001c0036t0015g0036 | 1 | 24 | 0.0417 | 2814 | c.366 others(2833): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | chr11 | TogoVar | |||||||
IPP_chr1_45693711_45755653 | 45703341 | G | GGCCTCCC others(2807): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 10 | 0.1000 | 2814 | c.153 others(2833): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
IPP_chr1_45693711_45755653 | 45703341 | G | GGCCTCCC others(2807): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0020 | 1 | 10 | 0.1000 | 2814 | c.153 others(2833): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
IPP_chr1_45693711_45755653 | 45703341 | G | GGCCTCCC others(2807): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0057 | 1 | 10 | 0.1000 | 2814 | c.153 others(2833): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
IPP_chr1_45693711_45755653 | 45703341 | G | GGCCTCCC others(2807): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 | 1 | 10 | 0.1000 | 2814 | c.153 others(2833): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAA others(2807): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 | 1 | 106 | 0.0094 | 2814 | c.353 others(2831): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAA others(2807): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 106 | 0.0094 | 2814 | c.353 others(2831): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAA others(2807): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG01123.hp2 others(34): Show |
a0001a0003 | a0001c0001a0001c0017a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0170 a0001c0001t0002g0008 a0001c0001t0002g0009 others(33): Show |
37 | 142 | 0.2606 | 2814 | c.353 others(2831): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LAMC2_chr1_183181264_183250127 | 183201318 | T | TGATGTGC others(2807): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0004 | a0004c0006 | a0004c0006t0008 | a0004c0006t0008g0075 | 1 | 331 | 0.0030 | 2814 | c.80- others(2829): Show |
LAMC2 | ENSG00000058085.15 | transcript | ENST00000264144.5 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAL2_chr8_119203363_119250673 | 119237857 | C | CATTCCCT others(2807): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02572.hp2 NA20300.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0009 | a0002c0002t0003g0096 a0002c0002t0009g0030 |
3 | 379 | 0.0079 | 2814 | c.304 others(2831): Show |
MAL2 | ENSG00000147676.14 | transcript | ENST00000614891.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MAL2_chr8_119203363_119250673 | 119237857 | C | CATTCCCT others(2807): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0097 | 1 | 377 | 0.0027 | 2814 | c.304 others(2831): Show |
MAL2 | ENSG00000147676.14 | transcript | ENST00000614891.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYLK_chr3_123605049_123889332 | 123871865 | T | TGAATATA others(2807): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0003 | a0003c0010 | a0003c0010t0008 | a0003c0010t0008g0046 | 1 | 111 | 0.0090 | 2814 | c.-12 others(2833): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2/33 | chr3 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2807): Show |
downstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 7 | 0.1429 | 2814 | c.*27 others(2825): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2807): Show |
downstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 7 | 0.1429 | 2814 | c.*27 others(2825): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2807): Show |
downstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 7 | 0.1429 | 2814 | c.*27 others(2825): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
SNPH_chr20_1261294_1314327 | 1301962 | A | ATTTCTAA others(2807): Show |
intron_variant | MODIFIER | HG01361.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0006 | 2 | 324 | 0.0062 | 2814 | c.440 others(2831): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |