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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALPL_chr1_21504423_21583410 | 21575290 | GATC | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(107): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0005a0001c0017others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0053 a0001c0001t0001g0107 a0001c0001t0002g0001 others(105): Show |
110 | 368 | 0.2989 | -3 | c.998 others(18): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21580730 | CAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(266): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(33): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0107 others(264): Show |
269 | 279 | 0.9642 | -3 | c.*30 others(14): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2321 | chr1 | TogoVar | |||||||
ALPP_chr2_232373751_232387889 | 232385165 | GGAA | G | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01891.hp2 HG01978.hp2 others(3): Show |
a0002a0009 | a0002c0002a0009c0016 | a0002c0002t0001a0009c0016t0001 | a0002c0002t0001g0004 a0002c0002t0001g0027 a0009c0016t0001g0004 |
6 | 405 | 0.0148 | -3 | c.*33 others(14): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2277 | chr2 | TogoVar | |||||||
ALPP_chr2_232373751_232387889 | 232385251 | GGAA | G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(61): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0009a0003c0003others(4): Show | a0001c0001t0001a0002c0009t0001a0003c0003t0002others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0002c0009t0001g0014 others(9): Show |
64 | 408 | 0.1569 | -3 | c.*34 others(14): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2363 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201725697 | CAGA | C | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG01943.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0250 others(6): Show |
9 | 352 | 0.0256 | -3 | c.324 others(20): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 19/33 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201740536 | AAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(119): Show |
a0001a0002a0007others(6): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(15): Show | a0001c0001t0001g0046 a0001c0001t0001g0081 a0001c0001t0001g0083 others(116): Show |
122 | 352 | 0.3466 | -3 | c.235 others(22): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 11/33 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201750190 | AAAG | A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(39): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(36): Show |
42 | 352 | 0.1193 | -3 | c.173 others(20): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 7/33 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201758740 | TATA | T | intron_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG01081.hp1 others(13): Show |
a0002 | a0002c0005a0002c0006a0002c0020 | a0002c0005t0001a0002c0006t0001a0002c0020t0001 | a0002c0005t0001g0002 a0002c0005t0001g0005 a0002c0005t0001g0056 others(10): Show |
16 | 352 | 0.0455 | -3 | c.111 others(20): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 4/33 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201770309 | CCTA | C | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01257.hp2 others(7): Show |
a0001a0010 | a0001c0001a0001c0004a0010c0014 | a0001c0001t0001a0001c0004t0001a0010c0014t0001 | a0001c0001t0001g0046 a0001c0004t0001g0004 a0001c0004t0001g0044 others(6): Show |
10 | 352 | 0.0284 | -3 | c.-60 others(20): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 1/33 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201771042 | ATTT | A | intron_variant | MODIFIER | HG01496.hp2 HG02055.hp2 HG02486.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0003a0003c0007t0001 | a0001c0001t0003g0023 a0001c0001t0003g0031 a0003c0007t0001g0032 others(4): Show |
7 | 110 | 0.0636 | -3 | c.-60 others(20): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 1/33 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201772278 | TAAC | T | intron_variant | MODIFIER | HG01109.hp2 HG01123.hp1 HG02027.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(1): Show | a0001c0001t0001g0217 a0001c0001t0003g0020 a0001c0001t0003g0021 others(9): Show |
12 | 166 | 0.0723 | -3 | c.-60 others(20): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 1/33 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201772850 | ATTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01070.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0205 a0001c0001t0003g0031 a0001c0002t0001g0072 others(24): Show |
31 | 110 | 0.2818 | -3 | c.-60 others(20): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 1/33 | chr2 | TogoVar | |||||||
ALX1_chr12_85275220_85306784 | 85295943 | GTGT | G | intron_variant | MODIFIER | HG02145.hp2 HG02647.hp2 HG02809.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(4): Show |
11 | 382 | 0.0288 | -3 | c.661 others(20): Show |
ALX1 | ENSG00000180318.4 | transcript | ENST00000316824.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ALX3_chr1_110054870_110075672 | 110061318 | AGTG | A | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp2 HG02615.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0045 a0001c0001t0001g0046 others(3): Show |
10 | 420 | 0.0238 | -3 | c.723 others(18): Show |
ALX3 | ENSG00000156150.9 | transcript | ENST00000647563.2 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
ALX3_chr1_110054870_110075672 | 110062642 | TGTG | T | intron_variant | MODIFIER | HG01517.hp1 HG01517.hp2 HG03490.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0002 a0001c0001t0002g0010 a0001c0001t0002g0059 others(3): Show |
7 | 420 | 0.0167 | -3 | c.595 others(20): Show |
ALX3 | ENSG00000156150.9 | transcript | ENST00000647563.2 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
ALX4_chr11_44255440_44315139 | 44264044 | CCTT | C | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01168.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0007a0002c0004others(5): Show | a0001c0002t0011a0001c0002t0019a0001c0002t0027others(15): Show | a0001c0002t0011g0179 a0001c0002t0011g0289 a0001c0002t0011g0292 others(24): Show |
27 | 386 | 0.0699 | -3 | c.*80 others(12): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 4/4 | 807 | chr11 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44293167 | GGAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00738.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0007others(17): Show | a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0001g0242 others(26): Show |
29 | 386 | 0.0751 | -3 | c.466 others(22): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ALX4_chr11_44255440_44315139 | 44297009 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(130): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(37): Show | a0001c0001t0001g0004 a0001c0001t0001g0215 a0001c0001t0001g0216 others(126): Show |
133 | 180 | 0.7389 | -3 | c.466 others(22): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ALX4_chr11_44255440_44315139 | 44299354 | GTTT | G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01099.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0004 | a0001c0001t0001g0368 a0001c0001t0001g0370 a0001c0002t0003g0345 others(5): Show |
8 | 220 | 0.0364 | -3 | c.466 others(22): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ALX4_chr11_44255440_44315139 | 44310286 | TCCC | T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01256.hp2 HG01258.hp2 others(20): Show |
a0003 | a0003c0006a0003c0010a0003c0014others(1): Show | a0003c0006t0003a0003c0006t0004a0003c0006t0007others(13): Show | a0003c0006t0003g0022 a0003c0006t0003g0025 a0003c0006t0003g0037 others(20): Show |
23 | 60 | 0.3833 | -3 | c.-22 others(12): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 148 | chr11 | TogoVar | |||||||
ALYREF_chr17_81882835_81896586 | 81893755 | CTTT | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02280.hp1 others(5): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0003a0001c0004t0001 | a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0003g0034 others(1): Show |
8 | 302 | 0.0265 | -3 | c.-21 others(14): Show |
ALYREF | ENSG00000183684.8 | transcript | ENST00000505490.3 | protein_coding | 2170 | chr17 | TogoVar | |||||||
AMACR_chr5_33981165_34013050 | 33985072 | CATT | C | downstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp2 NA19084.hp1 |
a0002a0014 | a0002c0002a0014c0015 | a0002c0002t0002a0014c0015t0012 | a0002c0002t0002g0003 a0014c0015t0012g0037 |
3 | 436 | 0.0069 | -3 | c.*40 others(14): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 1092 | chr5 | TogoVar | |||||||
AMACR_chr5_33981165_34013050 | 33985756 | CATT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(213): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0003c0003others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(31): Show | a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0095 others(86): Show |
216 | 436 | 0.4954 | -3 | c.*33 others(14): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 408 | chr5 | TogoVar | |||||||
AMACR_chr5_33981165_34013050 | 33991029 | AATG | A | intron_variant | MODIFIER | HG02074.hp1 NA18944.hp1 NA18964.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0006 | a0001c0001t0006g0032 a0001c0001t0006g0161 a0001c0001t0006g0162 others(1): Show |
6 | 436 | 0.0138 | -3 | c.740 others(20): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
AMBN_chr4_70587256_70612288 | 70588930 | TATA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(56): Show |
a0001a0005a0008others(1): Show | a0001c0001a0001c0003a0005c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 others(22): Show |
59 | 478 | 0.1234 | -3 | c.-34 others(14): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3325 | chr4 | TogoVar | |||||||
AMBN_chr4_70587256_70612288 | 70602628 | CAGG | C | disruptive_inframe_deletion | MODERATE | HG00280.hp2 HG00323.hp1 HG00597.hp1 others(51): Show |
a0002a0016a0020 | a0002c0002a0002c0008a0002c0025others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0006 a0002c0002t0001g0012 a0002c0002t0001g0028 others(33): Show |
54 | 478 | 0.1130 | -3 | c.539 others(10): Show |
p.Gly others(6): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 7/13 | 642/2005 | 539/1344 | 180/447 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
AMBN_chr4_70587256_70612288 | 70602727 | TTTA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00735.hp2 others(18): Show |
a0001a0003 | a0001c0003a0003c0022 | a0001c0003t0001a0003c0022t0002 | a0001c0003t0001g0008 a0001c0003t0001g0067 a0001c0003t0001g0151 others(8): Show |
21 | 478 | 0.0439 | -3 | c.570 others(16): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70604992 | TAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(243): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0002c0002others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(124): Show |
246 | 459 | 0.5359 | -3 | c.798 others(20): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AMBP_chr9_114055127_114083300 | 114072132 | GAGA | G | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00673.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0081 a0001c0001t0001g0160 a0001c0001t0001g0169 others(12): Show |
20 | 452 | 0.0442 | -3 | c.556 others(18): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 5/9 | chr9 | TogoVar | |||||||
AMBP_chr9_114055127_114083300 | 114077304 | GCTC | G | intron_variant | MODIFIER | HG02922.hp2 HG02970.hp1 NA18906.hp1 |
a0001 | a0001c0004a0001c0010 | a0001c0004t0001a0001c0010t0001 | a0001c0004t0001g0305 a0001c0004t0001g0306 a0001c0010t0001g0307 |
3 | 452 | 0.0066 | -3 | c.118 others(18): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46444044 | TCTC | T | intron_variant | MODIFIER | HG00673.hp2 HG01496.hp1 HG02040.hp1 others(9): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0007 | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(1): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(9): Show |
12 | 158 | 0.0759 | -3 | c.252 others(20): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46468389 | AAAG | A | intron_variant | MODIFIER | HG02280.hp2 HG02818.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 others(1): Show |
4 | 158 | 0.0253 | -3 | c.252 others(24): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46487335 | ATTG | A | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 others(5): Show |
8 | 158 | 0.0506 | -3 | c.252 others(22): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46489466 | AAAG | A | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 others(5): Show |
8 | 158 | 0.0506 | -3 | c.252 others(22): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46503060 | CAAA | C | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0004 a0001c0003t0004g0008 a0001c0003t0004g0009 others(2): Show |
5 | 90 | 0.0556 | -3 | c.233 others(22): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 9/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46513265 | TTTC | T | intron_variant | MODIFIER | HG01109.hp2 HG01261.hp2 HG01884.hp1 others(15): Show |
a0001a0006 | a0001c0002a0001c0004a0006c0010 | a0001c0002t0002a0001c0004t0001a0006c0010t0002 | a0001c0002t0002g0013 a0001c0002t0002g0058 a0001c0002t0002g0097 others(15): Show |
18 | 158 | 0.1139 | -3 | c.207 others(20): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 7/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46533255 | ATTG | A | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01074.hp2 others(35): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0005a0004c0006t0001 | a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 others(35): Show |
38 | 158 | 0.2405 | -3 | c.207 others(22): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 7/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46552368 | CAAA | C | intron_variant | MODIFIER | HG01496.hp1 HG02145.hp1 HG02258.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0002a0001c0003t0004a0001c0004t0001 | a0001c0002t0002g0013 a0001c0002t0002g0143 a0001c0002t0002g0150 others(3): Show |
6 | 13 | 0.4615 | -3 | c.-12 others(22): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46569428 | TAAA | T | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01074.hp2 others(30): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0005a0004c0006t0001 | a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0034 others(30): Show |
33 | 146 | 0.2260 | -3 | c.-12 others(24): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46569439 | AAAT | A | intron_variant | MODIFIER | HG01361.hp2 HG02280.hp2 HG02965.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 others(4): Show |
7 | 158 | 0.0443 | -3 | c.-12 others(24): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46569441 | ATAT | A | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02258.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(1): Show | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0135 others(7): Show |
10 | 149 | 0.0671 | -3 | c.-12 others(24): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46585696 | ATAT | A | intron_variant | MODIFIER | HG02559.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0132 a0001c0002t0002g0143 |
2 | 156 | 0.0128 | -3 | c.-12 others(22): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMD1_chr6_110869785_110900713 | 110886222 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(101): Show |
286 | 355 | 0.8056 | -3 | c.111 others(20): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AMD1_chr6_110869785_110900713 | 110891396 | TATA | T | intron_variant | MODIFIER | NA18947.hp2 NA18962.hp2 NA18977.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0102 |
5 | 392 | 0.0128 | -3 | c.428 others(18): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AMD1_chr6_110869785_110900713 | 110899071 | CTTT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(141): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 others(41): Show |
144 | 247 | 0.5830 | -3 | c.*54 others(14): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 3359 | chr6 | TogoVar | |||||||
AMDHD2_chr16_2515371_2536417 | 2533430 | ATTT | A | downstream_gene_variant | MODIFIER | HG01168.hp1 HG01978.hp2 HG02074.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0015 others(2): Show |
8 | 20 | 0.4000 | -3 | c.*38 others(14): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2014 | chr16 | TogoVar | |||||||
AMELY_chrY_6860918_6916752 | 6871960 | AAAC | A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 128 | 0.0078 | -3 | c.54+ others(16): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 3/6 | chrY | TogoVar | |||||||
AMELY_chrY_6860918_6916752 | 6912829 | CAAA | C | upstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 66 | 0.0152 | -3 | c.-12 others(14): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 1078 | chrY | TogoVar | |||||||
AMER1_chrX_64180117_64210708 | 64185948 | TCAA | T | 3_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02451.hp1 |
a0002 | a0002c0002 | a0002c0002t0037a0002c0002t0038a0002c0002t0039 | a0002c0002t0037g0061 a0002c0002t0038g0065 a0002c0002t0039g0062 |
3 | 241 | 0.0124 | -3 | c.*39 others(14): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 3928 | chrX | TogoVar | ||||||
AMER1_chrX_64180117_64210708 | 64189535 | TATA | T | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG02280.hp1 HG02572.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0012a0001c0003t0022a0002c0002t0012 | a0001c0003t0012g0066 a0001c0003t0022g0045 a0002c0002t0012g0047 others(1): Show |
4 | 240 | 0.0167 | -3 | c.*34 others(12): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 341 | chrX | TogoVar |