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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2909): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 7 | 0.1429 | 2916 | c.*16 others(2927): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(2909): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 | 1 | 7 | 0.1429 | 2916 | c.*22 others(2927): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
GLCE_chr15_69155635_69277207 | 69238208 | T | TAAGATTG others(2909): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0073 | 1 | 340 | 0.0029 | 2916 | c.-13 others(2935): Show |
GLCE | ENSG00000138604.10 | transcript | ENST00000261858.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583378 | A | ACAGCCAC others(2909): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0102 a0004c0004t0002g0105 |
2 | 143 | 0.0140 | 2916 | c.377 others(2933): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877495 | G | GGGAGGTT others(2909): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0107 | 1 | 241 | 0.0041 | 2916 | c.224 others(2935): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877540 | T | TGGAGGTG others(2909): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0009 | a0009c0014 | a0009c0014t0002 | a0009c0014t0002g0123 | 1 | 258 | 0.0039 | 2916 | c.224 others(2935): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(2909): Show |
downstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0096 | 1 | 9 | 0.1111 | 2916 | c.*39 others(2927): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431786 | A | ATAGGGTG others(2909): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0152 | 1 | 234 | 0.0043 | 2916 | c.101 others(2935): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432003 | T | TAGGGTGG others(2909): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0369 | 1 | 304 | 0.0033 | 2916 | c.101 others(2933): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(2909): Show |
intron_variant | MODIFIER | HG03041.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0004 | a0001c0001t0003g0074 a0001c0002t0004g0022 |
2 | 24 | 0.0833 | 2916 | c.284 others(2935): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2909): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0185 | 1 | 135 | 0.0074 | 2916 | c.10- others(2929): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2909): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0178 | 1 | 135 | 0.0074 | 2916 | c.10- others(2929): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2909): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 135 | 0.0074 | 2916 | c.10- others(2929): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2909): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 135 | 0.0074 | 2916 | c.10- others(2929): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2909): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0180 a0001c0001t0001g0182 others(26): Show |
31 | 165 | 0.1879 | 2916 | c.10- others(2929): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2909): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02523.hp2 NA18952.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0197 others(3): Show |
6 | 140 | 0.0429 | 2916 | c.10- others(2929): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2909): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 135 | 0.0074 | 2916 | c.10- others(2929): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2910): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0101 | 1 | 146 | 0.0068 | 2917 | c.127 others(2936): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2910): Show |
intron_variant | MODIFIER | HG00438.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0235 |
2 | 147 | 0.0136 | 2917 | c.127 others(2936): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2910): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0093 | 1 | 146 | 0.0068 | 2917 | c.127 others(2936): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2910): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 146 | 0.0068 | 2917 | c.127 others(2936): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2910): Show |
intron_variant | MODIFIER | HG01123.hp1 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0060 |
2 | 147 | 0.0136 | 2917 | c.127 others(2936): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2910): Show |
intron_variant | MODIFIER | HG01515.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0123 |
2 | 147 | 0.0136 | 2917 | c.127 others(2936): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(2910): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0021 | a0021c0125 | a0021c0125t0001 | a0021c0125t0001g0064 | 1 | 31 | 0.0323 | 2917 | c.956 others(2934): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2910): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0075 | 1 | 274 | 0.0036 | 2917 | c.130 others(2934): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2910): Show |
intron_variant | MODIFIER | HG01496.hp2 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 a0001c0001t0001g0227 |
2 | 136 | 0.0147 | 2917 | c.10- others(2930): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2910): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG01109.hp2 others(6): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0006 | a0001c0001t0001a0003c0003t0001a0005c0006t0001 | a0001c0001t0001g0181 a0001c0001t0001g0199 a0001c0001t0001g0213 others(6): Show |
9 | 143 | 0.0629 | 2917 | c.10- others(2930): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2910): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0015 a0001c0001t0001g0241 a0001c0001t0001g0242 others(2): Show |
6 | 140 | 0.0429 | 2917 | c.10- others(2930): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(2910): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0126 | 1 | 35 | 0.0286 | 2917 | c.-28 others(2936): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2911): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0059 | 1 | 166 | 0.0060 | 2918 | c.173 others(2939): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2911): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 146 | 0.0068 | 2918 | c.127 others(2937): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2911): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0040 | 1 | 146 | 0.0068 | 2918 | c.127 others(2937): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2911): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0049 | 1 | 146 | 0.0068 | 2918 | c.127 others(2937): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2911): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0110 | 1 | 146 | 0.0068 | 2918 | c.127 others(2937): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706433 | G | GATAGATA others(2911): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0024 | a0002c0024t0007 | a0002c0024t0007g0003 | 1 | 256 | 0.0039 | 2918 | c.228 others(2935): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706421 | G | GATAGATA others(2911): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 | a0004 | a0004c0014 | a0004c0014t0008 | a0004c0014t0008g0299 | 1 | 310 | 0.0032 | 2918 | c.-49 others(2929): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4779 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706433 | G | GATAGATA others(2911): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 | a0030 | a0030c0119 | a0030c0119t0006 | a0030c0119t0006g0212 | 1 | 322 | 0.0031 | 2918 | c.-49 others(2929): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4767 | chr4 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2911): Show |
intron_variant | MODIFIER | NA18979.hp1 NA19055.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 a0001c0001t0001g0226 a0001c0001t0001g0232 |
3 | 137 | 0.0219 | 2918 | c.10- others(2931): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2911): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 135 | 0.0074 | 2918 | c.10- others(2931): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2911): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 135 | 0.0074 | 2918 | c.10- others(2931): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2911): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 135 | 0.0074 | 2918 | c.10- others(2931): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2912): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0203 | 1 | 288 | 0.0035 | 2919 | c.96+ others(2934): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2912): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0205 | 1 | 288 | 0.0035 | 2919 | c.96+ others(2934): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2912): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0110 | 1 | 166 | 0.0060 | 2919 | c.173 others(2940): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2912): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0077 | 1 | 166 | 0.0060 | 2919 | c.173 others(2940): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2912): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0050 | 1 | 146 | 0.0068 | 2919 | c.127 others(2938): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2912): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 146 | 0.0068 | 2919 | c.127 others(2938): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2912): Show |
intron_variant | MODIFIER | HG02683.hp2 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0165 |
2 | 147 | 0.0136 | 2919 | c.127 others(2938): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716161 | G | GTGGTGTC others(2912): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 83 | 0.0120 | 2919 | c.86- others(2932): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2912): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 38 | 0.0263 | 2919 | c.*19 others(2930): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar |