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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AMER1_chrX_64180117_64210708 | 64201448 | A | AACAC | intron_variant | MODIFIER | HG00423.hp1 HG02257.hp1 NA18955.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(3): Show | a0001c0001t0001g0011 a0001c0001t0003g0112 a0001c0001t0016g0069 others(3): Show |
9 | 118 | 0.0763 | 4 | c.-99 others(21): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 1/1 | chrX | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25159105 | T | TATAA | downstream_gene_variant | MODIFIER | HG03225.hp2 HG03453.hp1 HG03831.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0027a0004c0004t0026 | a0001c0001t0001g0000 a0001c0001t0027g0000 a0004c0004t0026g0000 |
6 | 414 | 0.0145 | 4 | c.*10 others(17): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2573 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25174741 | T | TCCTC | upstream_gene_variant | MODIFIER | HG00408.hp2 HG01109.hp2 HG01192.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 others(11): Show |
35 | 408 | 0.0858 | 4 | c.-31 others(15): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2454 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25174782 | T | TTTCC | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01361.hp2 HG01884.hp1 others(22): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(16): Show |
25 | 334 | 0.0749 | 4 | c.-31 others(15): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2495 | chr13 | TogoVar | |||||||
AMER3_chr2_130750540_130773134 | 130752076 | T | TTAAA | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp1 others(108): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0016a0001c0021others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(45): Show |
111 | 302 | 0.3676 | 4 | c.-36 others(15): Show |
AMER3 | ENSG00000178171.12 | transcript | ENST00000321420.5 | protein_coding | 3463 | chr2 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56360588 | C | CAGAA | downstream_gene_variant | MODIFIER | HG02559.hp1 HG02809.hp1 HG03098.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0014a0002c0003t0014 | a0001c0001t0014g0136 a0001c0001t0014g0137 a0002c0003t0014g0138 others(1): Show |
4 | 354 | 0.0113 | 4 | c.*23 others(15): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 863 | chr16 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56384703 | T | TACAC | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG00733.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0020a0001c0001t0024 | a0001c0001t0010g0204 a0001c0001t0020g0219 a0001c0001t0024g0099 others(1): Show |
4 | 90 | 0.0444 | 4 | c.138 others(23): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 10/13 | chr16 | TogoVar | |||||||
AMIGO1_chr1_109499178_109514727 | 109503476 | T | TTATA | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01884.hp2 HG01978.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0005g0005 others(4): Show |
26 | 195 | 0.1333 | 4 | c.*39 others(15): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 701 | chr1 | TogoVar | |||||||
AMMECR1L_chr2_127856630_127890956 | 127867796 | A | AAAGG | intron_variant | MODIFIER | HG01175.hp2 HG02723.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0175 a0001c0001t0010g0166 a0001c0001t0010g0167 |
3 | 331 | 0.0091 | 4 | c.725 others(19): Show |
AMMECR1L | ENSG00000144233.12 | transcript | ENST00000272647.10 | protein_coding | 6/7 | chr2 | TogoVar | |||||||
AMMECR1L_chr2_127856630_127890956 | 127875799 | C | CTCTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(128): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(14): Show | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0011 others(93): Show |
131 | 329 | 0.3982 | 4 | c.-38 others(21): Show |
AMMECR1L | ENSG00000144233.12 | transcript | ENST00000272647.10 | protein_coding | 2/7 | chr2 | TogoVar | |||||||
AMMECR1L_chr2_127856630_127890956 | 127877036 | C | CATAT | intron_variant | MODIFIER | HG00642.hp2 HG01516.hp1 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0004g0042 a0001c0001t0004g0043 |
4 | 317 | 0.0126 | 4 | c.-38 others(21): Show |
AMMECR1L | ENSG00000144233.12 | transcript | ENST00000272647.10 | protein_coding | 2/7 | chr2 | TogoVar | |||||||
AMMECR1L_chr2_127856630_127890956 | 127880773 | T | TACAC | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00609.hp1 others(61): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0076 a0001c0001t0002g0005 a0001c0001t0002g0006 others(39): Show |
64 | 252 | 0.2540 | 4 | c.-39 others(21): Show |
AMMECR1L | ENSG00000144233.12 | transcript | ENST00000272647.10 | protein_coding | 2/7 | chr2 | TogoVar | |||||||
AMMECR1_chrX_110189186_110323085 | 110196175 | A | ATATG | 3_prime_UTR_variant | MODIFIER | HG01106.hp1 HG02109.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 others(4): Show |
7 | 153 | 0.0458 | 4 | c.*23 others(15): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 6/6 | 2344 | chrX | TogoVar | ||||||
AMMECR1_chrX_110189186_110323085 | 110217502 | T | TACAC | intron_variant | MODIFIER | HG03516.hp1 HG03710.hp1 NA18982.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0023 a0001c0001t0001g0052 a0001c0001t0001g0081 others(2): Show |
5 | 109 | 0.0459 | 4 | c.585 others(19): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 2/5 | chrX | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31666648 | T | TTTTA | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(92): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0038 others(84): Show |
95 | 430 | 0.2209 | 4 | c.*56 others(15): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 4493 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31695471 | A | ATTTC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(87): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0115 a0001c0001t0001g0135 a0001c0001t0001g0136 others(80): Show |
90 | 430 | 0.2093 | 4 | c.591 others(21): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 5/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31696280 | G | GTATT | intron_variant | MODIFIER | HG00140.hp2 HG01433.hp2 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0173 |
3 | 6 | 0.5000 | 4 | c.591 others(21): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 5/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31699395 | C | CAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0115 others(54): Show |
63 | 83 | 0.7590 | 4 | c.317 others(21): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31702549 | T | TGTGA | intron_variant | MODIFIER | HG02809.hp2 HG03098.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0371 a0001c0001t0005g0372 a0001c0001t0005g0373 others(2): Show |
5 | 430 | 0.0116 | 4 | c.172 others(19): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31710551 | T | TACAC | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00544.hp1 others(65): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0038 others(60): Show |
68 | 111 | 0.6126 | 4 | c.39- others(19): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31722130 | G | GACAC | intron_variant | MODIFIER | HG01099.hp2 HG02717.hp1 HG02717.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0193 others(9): Show |
12 | 70 | 0.1714 | 4 | c.38+ others(19): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31730453 | A | AAAAG | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG02004.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0038 others(17): Show |
22 | 143 | 0.1538 | 4 | c.-14 others(15): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 1433 | chr12 | TogoVar | |||||||
AMOTL1_chr11_94763356_94881748 | 94818994 | T | TTTTG | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00642.hp1 others(94): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0018others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(27): Show | a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0003g0022 others(91): Show |
97 | 244 | 0.3975 | 4 | c.112 others(23): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AMOTL1_chr11_94763356_94881748 | 94867605 | C | CAGGG | intron_variant | MODIFIER | HG00738.hp2 HG01243.hp2 HG01346.hp1 others(27): Show |
a0001a0003a0010 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0007a0001c0001t0016a0001c0001t0017others(16): Show | a0001c0001t0007g0045 a0001c0001t0007g0094 a0001c0001t0007g0130 others(27): Show |
30 | 244 | 0.1230 | 4 | c.248 others(23): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AMOTL1_chr11_94763356_94881748 | 94871955 | G | GCATA | 3_prime_UTR_variant | MODIFIER | HG02615.hp1 HG02647.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0009 a0001c0001t0009g0155 a0001c0001t0009g0156 others(1): Show |
5 | 244 | 0.0205 | 4 | c.*11 others(15): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 13/13 | 1162 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AMOTL1_chr11_94763356_94881748 | 94873776 | T | TACAC | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG01934.hp1 HG02258.hp2 others(15): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0009 | a0001c0001t0003a0001c0001t0011a0001c0002t0003others(1): Show | a0001c0001t0003g0022 a0001c0001t0003g0047 a0001c0001t0003g0070 others(15): Show |
18 | 112 | 0.1607 | 4 | c.*30 others(15): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 13/13 | 3019 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AMOTL2_chr3_134350347_134379447 | 134372530 | A | AACAC | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG02615.hp1 others(8): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0006a0001c0008t0006 | a0001c0001t0002g0147 a0001c0001t0006g0037 a0001c0001t0006g0038 others(4): Show |
11 | 63 | 0.1746 | 4 | c.-61 others(21): Show |
AMOTL2 | ENSG00000114019.15 | transcript | ENST00000249883.10 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
AMOTL2_chr3_134350347_134379447 | 134374901 | C | CTGTG | upstream_gene_variant | MODIFIER | HG00673.hp1 HG00738.hp1 HG01106.hp2 others(14): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0002g0005 a0001c0001t0002g0028 a0001c0001t0002g0033 others(8): Show |
17 | 275 | 0.0618 | 4 | c.-62 others(13): Show |
AMOTL2 | ENSG00000114019.15 | transcript | ENST00000249883.10 | protein_coding | 455 | chr3 | TogoVar | |||||||
AMOT_chrX_112769877_112845831 | 112783691 | A | ATGTG | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG00738.hp1 others(60): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0083 a0001c0001t0002g0237 a0001c0001t0004g0139 others(57): Show |
63 | 225 | 0.2800 | 4 | c.211 others(23): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 10/13 | chrX | TogoVar | |||||||
AMOT_chrX_112769877_112845831 | 112825035 | G | GCACA | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02809.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0145 others(7): Show |
10 | 194 | 0.0515 | 4 | c.-63 others(17): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 3/13 | chrX | TogoVar | |||||||
AMOT_chrX_112769877_112845831 | 112831445 | C | CAATA | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(58): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0026 others(57): Show |
61 | 197 | 0.3096 | 4 | c.-21 others(21): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 2/13 | chrX | TogoVar | |||||||
AMPD1_chr1_114668098_114700546 | 114668520 | A | AACAC | downstream_gene_variant | MODIFIER | HG01255.hp1 HG01891.hp2 HG02083.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0012 others(12): Show |
18 | 119 | 0.1513 | 4 | c.*45 others(15): Show |
AMPD1 | ENSG00000116748.22 | transcript | ENST00000520113.7 | protein_coding | 4577 | chr1 | TogoVar | |||||||
AMPD1_chr1_114668098_114700546 | 114677795 | C | CTCCT | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG00741.hp1 others(8): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0061 others(6): Show |
11 | 349 | 0.0315 | 4 | c.122 others(21): Show |
AMPD1 | ENSG00000116748.22 | transcript | ENST00000520113.7 | protein_coding | 9/15 | chr1 | TogoVar | |||||||
AMPD1_chr1_114668098_114700546 | 114677799 | C | CTCCT | intron_variant | MODIFIER | HG00733.hp1 HG01255.hp1 HG01891.hp1 others(16): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0056 others(9): Show |
19 | 67 | 0.2836 | 4 | c.122 others(21): Show |
AMPD1 | ENSG00000116748.22 | transcript | ENST00000520113.7 | protein_coding | 9/15 | chr1 | TogoVar | |||||||
AMPD1_chr1_114668098_114700546 | 114693117 | A | AAAAT | intron_variant | MODIFIER | HG02145.hp2 HG02622.hp1 HG02965.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0204 others(2): Show |
7 | 130 | 0.0538 | 4 | c.34+ others(17): Show |
AMPD1 | ENSG00000116748.22 | transcript | ENST00000520113.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
AMPD1_chr1_114668098_114700546 | 114693160 | A | ATAAG | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp2 HG01515.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0061 a0001c0001t0001g0064 others(1): Show |
6 | 325 | 0.0185 | 4 | c.34+ others(17): Show |
AMPD1 | ENSG00000116748.22 | transcript | ENST00000520113.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
AMPD2_chr1_109614837_109637051 | 109631172 | C | CACCA | 3_prime_UTR_variant | MODIFIER | HG01516.hp2 HG01517.hp2 HG02451.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0003 a0002c0002t0006g0006 |
4 | 386 | 0.0104 | 4 | c.*21 others(11): Show |
AMPD2 | ENSG00000116337.20 | transcript | ENST00000528667.7 | protein_coding | 19/19 | 25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AMPD3_chr11_10450264_10512579 | 10450339 | A | AGTGT | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00639.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0068 a0001c0001t0001g0082 a0001c0001t0001g0086 others(25): Show |
29 | 121 | 0.2397 | 4 | c.-51 others(15): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 4924 | chr11 | TogoVar | |||||||
AMPD3_chr11_10450264_10512579 | 10458254 | T | TAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(14): Show | a0001c0001t0001g0214 a0001c0001t0005g0190 a0001c0001t0016g0130 others(32): Show |
35 | 151 | 0.2318 | 4 | c.-6+ others(19): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AMPD3_chr11_10450264_10512579 | 10471281 | C | CTCCT | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0294 a0001c0001t0002g0002 a0001c0001t0002g0014 others(43): Show |
51 | 388 | 0.1314 | 4 | c.222 others(21): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AMPD3_chr11_10450264_10512579 | 10476923 | T | TAGCA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(223): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0027 others(207): Show |
226 | 388 | 0.5825 | 4 | c.222 others(21): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AMPD3_chr11_10450264_10512579 | 10504115 | C | CATCT | intron_variant | MODIFIER | HG00558.hp1 HG01515.hp2 HG02132.hp1 others(11): Show |
a0001a0002a0010 | a0001c0001a0002c0006a0010c0023 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0055 a0001c0001t0001g0225 a0001c0001t0001g0294 others(10): Show |
14 | 70 | 0.2000 | 4 | c.201 others(21): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38383670 | C | CAAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00597.hp2 others(23): Show |
a0001a0002a0008 | a0001c0001a0001c0005a0001c0007others(3): Show | a0001c0001t0005a0001c0005t0006a0001c0007t0005others(4): Show | a0001c0001t0005g0033 a0001c0005t0006g0127 a0001c0005t0006g0128 others(23): Show |
26 | 146 | 0.1781 | 4 | c.*11 others(15): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 33 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38390961 | C | CAGAG | intron_variant | MODIFIER | HG01433.hp2 HG02738.hp1 NA18986.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0059 a0001c0001t0001g0108 others(1): Show |
4 | 23 | 0.1739 | 4 | c.187 others(21): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 19/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38392377 | C | CTTTT | intron_variant | MODIFIER | HG01099.hp2 HG01496.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0004a0001c0009t0006 | a0001c0001t0004g0009 a0001c0001t0004g0012 a0001c0001t0004g0025 others(5): Show |
8 | 9 | 0.8889 | 4 | c.160 others(21): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 18/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38406717 | T | TCTCC | intron_variant | MODIFIER | HG00597.hp1 HG02135.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0141 a0001c0001t0003g0173 a0001c0001t0003g0237 |
3 | 286 | 0.0105 | 4 | c.139 others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38406728 | T | TTCTC | intron_variant | MODIFIER | NA18963.hp1 NA18979.hp2 NA18983.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0209 a0001c0001t0001g0244 a0001c0001t0001g0247 others(1): Show |
4 | 147 | 0.0272 | 4 | c.139 others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38407021 | C | CCTCT | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG02148.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0019a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0102 a0001c0001t0001g0144 a0001c0001t0001g0192 others(17): Show |
20 | 137 | 0.1460 | 4 | c.139 others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38407296 | G | GAGAT | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(75): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0005a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0091 a0001c0001t0001g0192 a0001c0001t0001g0193 others(75): Show |
78 | 281 | 0.2776 | 4 | c.139 others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38416102 | A | AATAT | intron_variant | MODIFIER | HG02622.hp2 HG03471.hp2 NA20752.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0004a0003c0006t0004 | a0001c0001t0004g0025 a0003c0006t0004g0083 a0003c0006t0004g0084 |
3 | 22 | 0.1364 | 4 | c.139 others(23): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar |