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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PUM2_chr2_20243737_20355844 | 20310669 | G | GATAATTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(351): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(350): Show |
354 | 356 | 0.9944 | 7 | c.518 others(22): Show |
PUM2 | ENSG00000055917.17 | transcript | ENST00000361078.7 | protein_coding | 5/20 | chr2 | TogoVar | |||||||
PUM2_chr2_20243737_20355844 | 20354595 | A | ACAACAAC | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0094 a0001c0001t0005g0235 a0001c0001t0005g0236 others(1): Show |
4 | 350 | 0.0114 | 7 | c.-40 others(18): Show |
PUM2 | ENSG00000055917.17 | transcript | ENST00000361078.7 | protein_coding | 3752 | chr2 | TogoVar | |||||||
PUS10_chr2_60935223_61023255 | 60996642 | G | GATATGCC | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01884.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0005 a0001c0001t0002g0142 a0001c0001t0002g0159 others(5): Show |
9 | 244 | 0.0369 | 7 | c.468 others(24): Show |
PUS10 | ENSG00000162927.14 | transcript | ENST00000316752.11 | protein_coding | 4/17 | chr2 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105515791 | T | TTTATTTA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp1 others(109): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(109): Show |
112 | 164 | 0.6829 | 7 | c.-33 others(24): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PUSL1_chr1_1303597_1316677 | 1308546 | C | CGGGGGGG | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG02040.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0002c0002t0001g0001 |
22 | 192 | 0.1146 | 7 | c.-98 others(14): Show |
PUSL1 | ENSG00000169972.13 | transcript | ENST00000379031.10 | protein_coding | 50 | chr1 | TogoVar | |||||||
PUSL1_chr1_1303597_1316677 | 1312198 | T | TGGGGGGG | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01074.hp1 others(15): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0012t0001g0002 |
18 | 85 | 0.2118 | 7 | c.*81 others(16): Show |
PUSL1 | ENSG00000169972.13 | transcript | ENST00000379031.10 | protein_coding | 522 | chr1 | TogoVar | |||||||
PVR_chr19_44638910_44671162 | 44668130 | T | TTATATAA | downstream_gene_variant | MODIFIER | HG00738.hp1 HG02258.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0039a0001c0001t0114 | a0001c0001t0039g0115 a0001c0001t0039g0118 a0001c0001t0114g0086 |
3 | 410 | 0.0073 | 7 | c.*63 others(18): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 1969 | chr19 | TogoVar | |||||||
PVR_chr19_44638910_44671162 | 44668398 | A | ATTATTAT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01517.hp2 |
a0004 | a0004c0006 | a0004c0006t0009a0004c0006t0034 | a0004c0006t0009g0001 a0004c0006t0034g0009 |
3 | 410 | 0.0073 | 7 | c.*65 others(18): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 2237 | chr19 | TogoVar | |||||||
PVR_chr19_44638910_44671162 | 44668700 | T | TTATATTA | downstream_gene_variant | MODIFIER | HG01123.hp1 HG01358.hp2 HG01361.hp2 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0005a0001c0001t0039a0001c0001t0046others(28): Show | a0001c0001t0005g0044 a0001c0001t0005g0140 a0001c0001t0039g0115 others(31): Show |
36 | 408 | 0.0882 | 7 | c.*68 others(18): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 2539 | chr19 | TogoVar | |||||||
PWP1_chr12_107680799_107718162 | 107688030 | C | CAAAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG01515.hp2 HG02155.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0001 | a0001c0001t0001g0040 a0001c0001t0001g0191 a0001c0001t0006g0148 others(2): Show |
6 | 97 | 0.0619 | 7 | c.73- others(20): Show |
PWP1 | ENSG00000136045.12 | transcript | ENST00000412830.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PWWP2A_chr5_160086339_160124450 | 160095047 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00597.hp2 others(26): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 others(26): Show |
29 | 84 | 0.3452 | 7 | c.585 others(22): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
PWWP2A_chr5_160086339_160124450 | 160104122 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00609.hp2 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0013others(4): Show | a0001c0001t0005a0001c0001t0010a0002c0002t0004others(8): Show | a0001c0001t0005g0240 a0001c0001t0005g0294 a0001c0001t0010g0291 others(28): Show |
31 | 158 | 0.1962 | 7 | c.585 others(26): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
PWWP2A_chr5_160086339_160124450 | 160109774 | A | ATATATAT | intron_variant | MODIFIER | NA18956.hp2 NA18992.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0169 |
3 | 283 | 0.0106 | 7 | c.584 others(24): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
PWWP2B_chr10_132392200_132422859 | 132422474 | A | ACGCCTGT | downstream_gene_variant | MODIFIER | HG00741.hp2 HG02451.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0105 a0001c0001t0001g0207 |
3 | 372 | 0.0081 | 7 | c.*54 others(18): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4616 | chr10 | TogoVar | |||||||
PXDC1_chr6_3717619_3756713 | 3751917 | C | CGGAGCCG | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02559.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0003 | a0001c0001t0012g0196 a0001c0001t0012g0197 a0001c0001t0012g0199 others(1): Show |
5 | 410 | 0.0122 | 7 | c.-38 others(16): Show |
PXDC1 | ENSG00000168994.14 | transcript | ENST00000380283.5 | protein_coding | 205 | chr6 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51471062 | T | TGGGAGTA | intron_variant | MODIFIER | HG00438.hp2 HG00741.hp2 HG01109.hp1 others(41): Show |
a0001a0002a0004others(12): Show | a0001c0046a0002c0002a0002c0021others(16): Show | a0001c0046t0001a0002c0002t0001a0002c0002t0002others(20): Show | a0001c0046t0001g0020 a0002c0002t0001g0023 a0002c0002t0001g0028 others(41): Show |
44 | 120 | 0.3667 | 7 | c.812 others(24): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 8/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51545948 | T | TAAAGTCC | intron_variant | MODIFIER | HG02258.hp1 HG03486.hp1 HG03669.hp2 others(2): Show |
a0001a0002a0003others(2): Show | a0001c0011a0002c0002a0003c0003others(2): Show | a0001c0011t0002a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0011t0002g0099 a0002c0002t0001g0039 a0003c0003t0001g0021 others(2): Show |
5 | 120 | 0.0417 | 7 | c.380 others(26): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 4/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51608836 | C | CAAAAAAA | intron_variant | MODIFIER | HG02258.hp1 HG03669.hp2 NA18956.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0011a0002c0002others(1): Show | a0001c0001t0001a0001c0011t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0011t0002g0099 others(2): Show |
5 | 38 | 0.1316 | 7 | c.237 others(26): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51675792 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG01243.hp2 HG03516.hp2 others(4): Show |
a0001a0003a0011others(2): Show | a0001c0001a0003c0003a0003c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(4): Show | a0001c0001t0001g0025 a0001c0001t0002g0093 a0003c0003t0001g0051 others(4): Show |
7 | 58 | 0.1207 | 7 | c.165 others(26): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1733748 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG01099.hp1 others(16): Show |
a0001a0004a0010 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0125 a0001c0001t0001g0225 a0001c0001t0001g0282 others(16): Show |
19 | 56 | 0.3393 | 7 | c.200 others(26): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXK_chr3_58327892_58431127 | 58336072 | T | TATATATA | intron_variant | MODIFIER | HG00738.hp2 NA19088.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0105 a0001c0001t0001g0157 a0001c0001t0008g0289 |
3 | 252 | 0.0119 | 7 | c.102 others(24): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 1/17 | chr3 | TogoVar | |||||||
PXMP2_chr12_132682587_132709985 | 132707728 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG00639.hp2 others(15): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0003a0001c0003t0008 | a0001c0002t0002g0028 a0001c0002t0002g0126 a0001c0002t0002g0142 others(14): Show |
18 | 152 | 0.1184 | 7 | c.*30 others(18): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2744 | chr12 | TogoVar | |||||||
PXMP4_chr20_33697758_33725310 | 33717639 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp2 others(78): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0009others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(15): Show | a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0010 others(28): Show |
81 | 288 | 0.2813 | 7 | c.113 others(24): Show |
PXMP4 | ENSG00000101417.12 | transcript | ENST00000409299.8 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
PXT1_chr6_36385551_36447854 | 36446024 | G | GTTTTTTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(206): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0023 others(190): Show |
209 | 217 | 0.9631 | 7 | c.-36 others(18): Show |
PXT1 | ENSG00000179165.12 | transcript | ENST00000454782.3 | protein_coding | 3171 | chr6 | TogoVar | |||||||
PXYLP1_chr3_141226825_141299924 | 141289276 | C | CAAAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01884.hp2 others(34): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0307 others(32): Show |
37 | 277 | 0.1336 | 7 | c.505 others(24): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PYCR2_chr1_225914878_225929250 | 225924018 | G | GCCGCCTC | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00609.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0021 others(5): Show |
53 | 446 | 0.1188 | 7 | c.67+ others(18): Show |
PYCR2 | ENSG00000143811.20 | transcript | ENST00000343818.11 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
PYGB_chr20_25243085_25303012 | 25268161 | G | GCCCCCGC | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(54): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0015a0001c0006t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0035 others(40): Show |
57 | 121 | 0.4711 | 7 | c.346 others(22): Show |
PYGB | ENSG00000100994.12 | transcript | ENST00000216962.9 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PYGB_chr20_25243085_25303012 | 25268167 | C | CCCCCCCT | intron_variant | MODIFIER | HG01255.hp1 HG01496.hp1 HG01981.hp1 others(17): Show |
a0001a0005a0010 | a0001c0002a0001c0004a0005c0011others(1): Show | a0001c0002t0002a0001c0004t0002a0005c0011t0002others(1): Show | a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0004t0002g0009 others(12): Show |
20 | 355 | 0.0563 | 7 | c.346 others(22): Show |
PYGB | ENSG00000100994.12 | transcript | ENST00000216962.9 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PYGL_chr14_50900217_50949483 | 50928643 | T | TATTTTCC | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(107): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(8): Show | a0001c0001t0001g0225 a0001c0001t0001g0248 a0001c0001t0001g0249 others(73): Show |
110 | 388 | 0.2835 | 7 | c.528 others(24): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 4/19 | chr14 | TogoVar | |||||||
PYGO1_chr15_55533884_55593345 | 55567197 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(82): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0054 a0001c0001t0001g0176 a0001c0001t0001g0177 others(76): Show |
85 | 129 | 0.6589 | 7 | c.50- others(24): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
PYROXD2_chr10_98378568_98420182 | 98401273 | A | AAAAAAAC | intron_variant | MODIFIER | HG01255.hp2 HG02109.hp2 HG02257.hp2 others(15): Show |
a0001a0003 | a0001c0004a0003c0003a0003c0005 | a0001c0004t0002a0003c0003t0001a0003c0005t0001 | a0001c0004t0002g0028 a0001c0004t0002g0056 a0003c0003t0001g0038 others(10): Show |
18 | 237 | 0.0759 | 7 | c.316 others(24): Show |
PYROXD2 | ENSG00000119943.13 | transcript | ENST00000370575.5 | protein_coding | 4/15 | chr10 | TogoVar | |||||||
PYURF_chr4_88515998_88528776 | 88516483 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01517.hp1 HG03486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0002g0008 others(1): Show |
7 | 43 | 0.1628 | 7 | c.*54 others(18): Show |
PYURF | ENSG00000145337.5 | transcript | ENST00000273968.5 | protein_coding | 4514 | chr4 | TogoVar | |||||||
QARS1_chr3_49090932_49109757 | 49096798 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG01099.hp2 HG02027.hp1 others(31): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0057 a0001c0001t0001g0062 others(8): Show |
34 | 56 | 0.6071 | 7 | c.227 others(24): Show |
QARS1 | ENSG00000172053.18 | transcript | ENST00000306125.12 | protein_coding | 23/23 | chr3 | TogoVar | |||||||
QDPR_chr4_17481395_17517090 | 17496442 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01258.hp2 others(16): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0010 a0001c0003t0004g0024 a0001c0003t0004g0067 others(10): Show |
19 | 48 | 0.3958 | 7 | c.437 others(24): Show |
QDPR | ENSG00000151552.13 | transcript | ENST00000281243.10 | protein_coding | 4/6 | chr4 | TogoVar | |||||||
QKI_chr6_163409718_163583592 | 163572670 | A | ACCCCCCC | 3_prime_UTR_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00673.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0015others(12): Show | a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0012 others(43): Show |
47 | 70 | 0.6714 | 7 | c.*19 others(18): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 8/8 | 1972 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
QPCT_chr2_37339630_37378322 | 37347144 | T | TTTATATA | intron_variant | MODIFIER | HG00544.hp2 HG02080.hp2 NA18949.hp2 others(2): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0002a0002c0002t0008a0004c0005t0001 | a0002c0002t0002g0041 a0002c0002t0002g0288 a0002c0002t0008g0290 others(1): Show |
5 | 335 | 0.0149 | 7 | c.120 others(24): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
QPCT_chr2_37339630_37378322 | 37347164 | A | ATATATAT | intron_variant | MODIFIER | HG03139.hp2 NA18522.hp1 NA19078.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0089 a0001c0003t0001g0143 a0001c0003t0001g0228 |
3 | 162 | 0.0185 | 7 | c.120 others(24): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | chr2 | TogoVar | |||||||
QPCT_chr2_37339630_37378322 | 37347170 | T | TATATAAC | intron_variant | MODIFIER | HG01515.hp2 HG02965.hp1 HG03098.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0168 a0001c0001t0001g0169 others(2): Show |
7 | 289 | 0.0242 | 7 | c.120 others(24): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
QPCT_chr2_37339630_37378322 | 37371431 | C | CAAAAAAA | intron_variant | MODIFIER | HG02015.hp2 HG02109.hp2 HG02135.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0234 a0001c0001t0002g0311 a0002c0002t0002g0237 others(7): Show |
10 | 92 | 0.1087 | 7 | c.824 others(22): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
QRFPR_chr4_121323642_121386018 | 121365526 | T | TTATATAA | intron_variant | MODIFIER | HG02145.hp2 HG03130.hp1 HG03225.hp2 |
a0007a0009 | a0007c0010a0009c0013 | a0007c0010t0005a0009c0013t0003 | a0007c0010t0005g0141 a0007c0010t0005g0147 a0009c0013t0003g0218 |
3 | 243 | 0.0123 | 7 | c.340 others(26): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
QRICH1_chr3_49024707_49099071 | 49096798 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01099.hp2 HG02071.hp1 HG02074.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0074 others(22): Show |
25 | 46 | 0.5435 | 7 | c.-29 others(18): Show |
QRICH1 | ENSG00000198218.12 | transcript | ENST00000395443.7 | protein_coding | 2728 | chr3 | TogoVar | |||||||
QRICH2_chr17_76269049_76313276 | 76301703 | A | ATTTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01069.hp2 others(49): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0005a0003c0003others(14): Show | a0001c0001t0001a0001c0005t0001a0003c0003t0001others(14): Show | a0001c0001t0001g0188 a0001c0005t0001g0182 a0001c0005t0001g0184 others(47): Show |
52 | 153 | 0.3399 | 7 | c.705 others(24): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 3/18 | chr17 | TogoVar | |||||||
QRSL1_chr6_106624578_106673417 | 106639116 | G | GTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00609.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0002c0003t0002a0002c0003t0009 | a0001c0001t0005g0001 a0001c0001t0005g0022 a0001c0001t0005g0303 others(4): Show |
8 | 349 | 0.0229 | 7 | c.25- others(22): Show |
QRSL1 | ENSG00000130348.11 | transcript | ENST00000369046.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
QSOX1_chr1_180149869_180209030 | 180184494 | C | CTACAGCA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(52): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(162): Show |
231 | 386 | 0.5984 | 7 | c.887 others(22): Show |
QSOX1 | ENSG00000116260.17 | transcript | ENST00000367602.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
R3HDM2_chr12_57248764_57436043 | 57371083 | C | CTTTTTTT | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG02071.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0318 others(4): Show |
7 | 25 | 0.2800 | 7 | c.-36 others(26): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 2/23 | chr12 | TogoVar | |||||||
R3HDM4_chr19_891503_918219 | 892874 | A | AGCCCCGC | downstream_gene_variant | MODIFIER | HG00544.hp2 HG02523.hp1 NA18998.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007 a0001c0001t0001g0114 a0001c0001t0001g0118 others(2): Show |
5 | 396 | 0.0126 | 7 | c.*45 others(18): Show |
R3HDM4 | ENSG00000198858.10 | transcript | ENST00000361574.10 | protein_coding | 3628 | chr19 | TogoVar | |||||||
R3HDM4_chr19_891503_918219 | 892881 | A | AGCCCCGC | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00621.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0112 a0001c0001t0001g0184 others(19): Show |
22 | 119 | 0.1849 | 7 | c.*45 others(18): Show |
R3HDM4 | ENSG00000198858.10 | transcript | ENST00000361574.10 | protein_coding | 3621 | chr19 | TogoVar | |||||||
R3HDM4_chr19_891503_918219 | 915271 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG00639.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0016 others(35): Show |
38 | 147 | 0.2585 | 7 | c.-21 others(18): Show |
R3HDM4 | ENSG00000198858.10 | transcript | ENST00000361574.10 | protein_coding | 2053 | chr19 | TogoVar | |||||||
RAB10_chr2_26029084_26142454 | 26124389 | C | CTTTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01070.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0092 others(16): Show |
19 | 30 | 0.6333 | 7 | c.328 others(24): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB10_chr2_26029084_26142454 | 26138128 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0211 others(3): Show |
6 | 43 | 0.1395 | 7 | c.*31 others(18): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 675 | chr2 | TogoVar |