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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GPRIN1_chr5_176590802_176615156 | 176599118 | TCTCAAAG others(17): Show |
T | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(115): Show |
a0002a0009 | a0002c0002a0002c0008a0002c0009others(1): Show | a0002c0002t0001a0002c0002t0011a0002c0002t0015others(3): Show | a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0009 others(26): Show |
118 | 396 | 0.2980 | -24 | c.693 others(31): Show |
p.Lys others(13): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 2/2 | 917/4234 | 693/3027 | 231/1008 | chr5 | TogoVar | |||
GPSM2_chr1_108871985_108939545 | 108922543 | ACTT | A | disruptive_inframe_deletion | MODERATE | HG00140.hp1 HG00280.hp2 HG01099.hp1 others(96): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0005a0002c0006others(6): Show | a0002c0002t0002a0002c0002t0005a0002c0002t0006others(30): Show | a0002c0002t0002g0034 a0002c0002t0005g0019 a0002c0002t0005g0020 others(88): Show |
99 | 258 | 0.3837 | -3 | c.157 others(12): Show |
p.Ser others(6): Show |
GPSM2 | ENSG00000121957.15 | transcript | ENST00000264126.9 | protein_coding | 13/15 | 2064/7152 | 1572/2055 | 524/684 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
GPX1_chr3_49352176_49363353 | 49358240 | GGCC | G | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(75): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0006 | a0002c0002t0001g0007 a0002c0002t0002g0002 a0002c0002t0006g0014 |
78 | 125 | 0.6240 | -3 | c.36_ others(8): Show |
p.Ala others(5): Show |
GPX1 | ENSG00000233276.9 | transcript | ENST00000419783.3 | protein_coding | 1/2 | 113/899 | 36/612 | 12/203 | chr3 | TogoVar | |||
GPX1_chr3_49352176_49363353 | 49358240 | GGCCGCC | G | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(196): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(5): Show |
199 | 246 | 0.8089 | -6 | c.33_ others(11): Show |
p.Ala others(11): Show |
GPX1 | ENSG00000233276.9 | transcript | ENST00000419783.3 | protein_coding | 1/2 | 113/899 | 33/612 | 11/203 | chr3 | TogoVar | |||
GRIN2C_chr17_74837023_74864885 | 74842534 | ACTGTCT | A | disruptive_inframe_deletion | MODERATE | HG02630.hp1 HG02723.hp2 HG02818.hp1 |
a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0036 a0007c0012t0001g0119 |
3 | 358 | 0.0084 | -6 | c.359 others(15): Show |
p.Arg others(15): Show |
GRIN2C | ENSG00000161509.14 | transcript | ENST00000293190.10 | protein_coding | 13/13 | 3759/4271 | 3597/3702 | 1199/1233 | chr17 | TogoVar | |||
GRIN3B_chr19_995419_1014732 | 1009551 | GGCCCCCG others(20): Show |
G | disruptive_inframe_deletion | MODERATE | HG00642.hp2 HG00741.hp2 HG01069.hp1 others(72): Show |
a0003a0010a0011others(17): Show | a0003c0005a0003c0025a0003c0028others(29): Show | a0003c0005t0002a0003c0025t0002a0003c0028t0002others(29): Show | a0003c0005t0002g0006 a0003c0005t0002g0016 a0003c0005t0002g0028 others(45): Show |
75 | 444 | 0.1689 | -27 | c.308 others(36): Show |
p.Ala others(15): Show |
GRIN3B | ENSG00000116032.5 | transcript | ENST00000234389.3 | protein_coding | 9/9 | 3102/3281 | 3083/3132 | 1028/1043 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
GRM6_chr5_178973327_179000320 | 178994862 | CGCGCCAG others(8): Show |
C | disruptive_inframe_deletion | MODERATE | NA18967.hp1 | a0023 | a0023c0068 | a0023c0068t0002 | a0023c0068t0002g0415 | 1 | 466 | 0.0021 | -15 | c.68_ others(20): Show |
p.Gln others(11): Show |
GRM6 | ENSG00000113262.16 | transcript | ENST00000517717.3 | protein_coding | 2/11 | 143/6025 | 68/2634 | 23/877 | chr5 | TogoVar | |||
GRWD1_chr19_48440983_48462022 | 48446744 | TGAA | T | disruptive_inframe_deletion | MODERATE | HG00140.hp2 HG00280.hp1 HG00735.hp2 others(39): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0003a0003c0004t0012others(3): Show | a0003c0004t0001g0004 a0003c0004t0003g0004 a0003c0004t0003g0012 others(10): Show |
42 | 432 | 0.0972 | -3 | c.378 others(10): Show |
p.Glu others(6): Show |
GRWD1 | ENSG00000105447.13 | transcript | ENST00000253237.10 | protein_coding | 3/7 | 401/5361 | 378/1341 | 126/446 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
GSE1_chr16_85608322_85681200 | 85656376 | GGAGCGC | G | disruptive_inframe_deletion | MODERATE | HG00639.hp1 HG01123.hp1 HG01257.hp1 others(29): Show |
a0002a0014a0020others(1): Show | a0002c0004a0002c0005a0002c0012others(9): Show | a0002c0004t0001a0002c0004t0002a0002c0004t0003others(19): Show | a0002c0004t0001g0019 a0002c0004t0001g0208 a0002c0004t0002g0042 others(29): Show |
32 | 282 | 0.1135 | -6 | c.104 others(15): Show |
p.Glu others(13): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 7/16 | 1111/7385 | 1041/3654 | 347/1217 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
GSE1_chr16_85608322_85681200 | 85656376 | GGAGCGCG others(5): Show |
G | disruptive_inframe_deletion | MODERATE | HG03486.hp2 NA18952.hp1 |
a0006 | a0006c0042a0006c0043 | a0006c0042t0062a0006c0043t0002 | a0006c0042t0062g0075 a0006c0043t0002g0058 |
2 | 252 | 0.0079 | -12 | c.103 others(21): Show |
p.Glu others(13): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 7/16 | 1105/7385 | 1035/3654 | 345/1217 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
GSE1_chr16_85608322_85681200 | 85656388 | CGAGCGCG others(5): Show |
C | disruptive_inframe_deletion | MODERATE | NA18612.hp2 | a0006 | a0006c0041 | a0006c0041t0002 | a0006c0041t0002g0084 | 1 | 288 | 0.0035 | -12 | c.104 others(21): Show |
p.Glu others(13): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 7/16 | 1111/7385 | 1041/3654 | 347/1217 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
GZF1_chr20_23357182_23378062 | 23365273 | CGGAGGAG others(14): Show |
C | disruptive_inframe_deletion | MODERATE | HG02145.hp1 | a0006 | a0006c0012 | a0006c0012t0006 | a0006c0012t0006g0026 | 1 | 426 | 0.0023 | -21 | c.900 others(28): Show |
p.Glu others(13): Show |
GZF1 | ENSG00000125812.16 | transcript | ENST00000338121.10 | protein_coding | 2/6 | 977/4834 | 900/2136 | 300/711 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
HAGHL_chr16_722106_734715 | 727514 | AGGTCAAG others(50): Show |
A | disruptive_inframe_deletion | MODERATE | NA18965.hp1 | a0006 | a0006c0007 | a0006c0007t0012 | a0006c0007t0012g0001 | 1 | 396 | 0.0025 | -57 | c.6_6 others(61): Show |
p.Lys others(16): Show |
HAGHL | ENSG00000103253.19 | transcript | ENST00000389703.8 | protein_coding | 1/8 | 410/1512 | 6/849 | 2/282 | chr16 | TogoVar | |||
HASPIN_chr17_3718903_3731699 | 3724096 | TCGGCGAC others(29): Show |
T | disruptive_inframe_deletion | MODERATE | HG02647.hp2 | a0011 | a0011c0009 | a0011c0009t0001 | a0011c0009t0001g0000 | 1 | 412 | 0.0024 | -36 | c.164 others(43): Show |
p.Gly others(11): Show |
HASPIN | ENSG00000177602.5 | transcript | ENST00000325418.5 | protein_coding | 1/1 | 197/2797 | 164/2397 | 55/798 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
HAVCR1_chr5_157024413_157064116 | 157052432 | CTTG | C | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(88): Show |
a0002 | a0002c0002a0002c0010 | a0002c0002t0001a0002c0002t0002a0002c0002t0007others(1): Show | a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0010 others(77): Show |
91 | 350 | 0.2600 | -3 | c.599 others(10): Show |
p.Thr others(6): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 4/9 | 809/1623 | 599/1095 | 200/364 | chr5 | TogoVar | |||
HAVCR1_chr5_157024413_157064116 | 157052546 | GTTGGAAC others(8): Show |
G | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(197): Show |
a0001a0006a0009others(2): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(165): Show |
200 | 350 | 0.5714 | -15 | c.473 others(22): Show |
p.Met others(13): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 4/9 | 695/1623 | 473/1095 | 158/364 | chr5 | TogoVar | |||
HCN1_chr5_45249948_45701380 | 45695884 | GCCGCCGC others(2): Show |
G | disruptive_inframe_deletion | MODERATE | HG01433.hp2 HG02055.hp2 HG02257.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0014 | a0002c0002t0008g0224 a0002c0002t0008g0225 a0002c0002t0008g0226 others(2): Show |
5 | 224 | 0.0223 | -9 | c.201 others(16): Show |
p.Gly others(11): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 1/8 | 496/9933 | 201/2673 | 67/890 | chr5 | TogoVar | |||
HECA_chr6_139130080_139185802 | 139135568 | CCGGGCGC others(11): Show |
C | disruptive_inframe_deletion | MODERATE | HG02015.hp1 HG02027.hp1 HG02300.hp2 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0004 | a0002c0004t0001g0029 a0002c0004t0001g0159 a0002c0004t0004g0182 others(1): Show |
5 | 312 | 0.0160 | -18 | c.191 others(25): Show |
p.Ala others(11): Show |
HECA | ENSG00000112406.5 | transcript | ENST00000367658.3 | protein_coding | 1/4 | 508/5646 | 191/1632 | 64/543 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
HEG1_chr3_124960710_125060997 | 125055810 | GGCC | G | disruptive_inframe_deletion | MODERATE | HG00558.hp1 HG00558.hp2 HG01081.hp2 others(24): Show |
a0007a0009a0015others(2): Show | a0007c0012a0007c0013a0007c0060others(9): Show | a0007c0012t0013a0007c0012t0017a0007c0013t0004others(20): Show | a0007c0012t0013g0225 a0007c0012t0013g0226 a0007c0012t0017g0002 others(22): Show |
27 | 360 | 0.0750 | -3 | c.78_ others(8): Show |
p.Ala others(5): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 1/17 | 187/9195 | 78/4146 | 26/1381 | chr3 | TogoVar | |||
HESX1_chr3_57192838_57204978 | 57199736 | ATTGAAAC others(27): Show |
A | splice_donor_variant others(3): Show |
HIGH | HG01346.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0014 | 1 | 334 | 0.0030 | -34 | c.149 others(44): Show |
p.Ser others(17): Show |
HESX1 | ENSG00000163666.10 | transcript | ENST00000295934.8 | protein_coding | 1/4 | 149/558 | 50/185 | chr3 | TogoVar | ||||
HLA-E_chr6_30484509_30499194 | 30490476 | AAATACCT others(51): Show |
A | splice_donor_variant others(3): Show |
HIGH | NA18979.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0011 | 1 | 456 | 0.0022 | -58 | c.572 others(68): Show |
p.Tyr others(13): Show |
HLA-E | ENSG00000204592.9 | transcript | ENST00000376630.5 | protein_coding | 3/8 | 595/2548 | 572/1077 | 191/358 | chr6 | TogoVar | |||
HMCN2_chr9_130260760_130439123 | 130265925 | CGGCAGT | C | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(152): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(126): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(126): Show | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0104 others(152): Show |
155 | 256 | 0.6055 | -6 | c.63_ others(11): Show |
p.Val others(11): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 1/98 | 182/15789 | 63/15240 | 21/5079 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
HNF1A_chr12_120973543_121007512 | 120997538 | CCTGCAGC others(20): Show |
C | disruptive_inframe_deletion | MODERATE | HG00639.hp1 HG01074.hp2 |
a0007 | a0007c0016 | a0007c0016t0002 | a0007c0016t0002g0021 | 2 | 408 | 0.0049 | -27 | c.138 others(36): Show |
p.Gln others(13): Show |
HNF1A | ENSG00000135100.19 | transcript | ENST00000257555.11 | protein_coding | 7/10 | 1606/3442 | 1380/1896 | 460/631 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
HNRNPCL2_chr1_13110488_13121854 | 13116317 | GACA | G | disruptive_inframe_deletion | MODERATE | HG02895.hp1 HG02897.hp1 HG03579.hp2 |
a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0014 | 3 | 424 | 0.0071 | -3 | c.81_ others(8): Show |
p.Val others(5): Show |
HNRNPCL2 | ENSG00000275774.3 | transcript | ENST00000621994.3 | protein_coding | 2/2 | 326/1156 | 81/882 | 27/293 | chr1 | TogoVar | |||
HNRNPM_chr19_8439975_8494114 | 8486200 | GCATGGGC others(5): Show |
G | disruptive_inframe_deletion | MODERATE | HG02683.hp2 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0065 | 1 | 358 | 0.0028 | -12 | c.178 others(21): Show |
p.Ala others(13): Show |
HNRNPM | ENSG00000099783.13 | transcript | ENST00000325495.9 | protein_coding | 14/16 | 1806/2477 | 1782/2193 | 594/730 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
HOMEZ_chr14_23267422_23291132 | 23275591 | ACAT | A | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(146): Show |
a0002a0005a0010others(3): Show | a0002c0001a0002c0007a0002c0009others(8): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0005others(21): Show | a0002c0001t0001g0002 a0002c0001t0001g0003 a0002c0001t0001g0005 others(83): Show |
149 | 372 | 0.4005 | -3 | c.163 others(12): Show |
p.Asp others(6): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 2/2 | 1816/4986 | 1634/1653 | 545/550 | chr14 | TogoVar | |||
HOMEZ_chr14_23267422_23291132 | 23275591 | ACATCAT | A | disruptive_inframe_deletion | MODERATE | HG01928.hp1 HG02074.hp2 HG02129.hp2 others(17): Show |
a0004 | a0004c0006a0004c0010a0004c0014 | a0004c0006t0002a0004c0006t0011a0004c0010t0007others(1): Show | a0004c0006t0002g0008 a0004c0006t0002g0207 a0004c0006t0002g0214 others(8): Show |
20 | 243 | 0.0823 | -6 | c.163 others(15): Show |
p.Asp others(13): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 2/2 | 1816/4986 | 1631/1653 | 544/550 | chr14 | TogoVar | |||
HOMEZ_chr14_23267422_23291132 | 23275617 | TTCC | T | disruptive_inframe_deletion | MODERATE | HG00280.hp2 HG00597.hp1 HG00609.hp2 others(98): Show |
a0001a0003a0006others(4): Show | a0001c0002a0001c0003a0003c0004others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(28): Show | a0001c0002t0001g0161 a0001c0002t0002g0001 a0001c0002t0002g0149 others(78): Show |
101 | 383 | 0.2637 | -3 | c.160 others(12): Show |
p.Glu others(6): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 2/2 | 1790/4986 | 1608/1653 | 536/550 | chr14 | TogoVar | |||
HOMEZ_chr14_23267422_23291132 | 23275617 | TTCCTCC | T | disruptive_inframe_deletion | MODERATE | HG01109.hp2 HG02257.hp2 HG02622.hp2 others(6): Show |
a0001 | a0001c0008a0001c0016 | a0001c0008t0009a0001c0008t0010a0001c0008t0028others(1): Show | a0001c0008t0009g0012 a0001c0008t0009g0025 a0001c0008t0009g0047 others(3): Show |
9 | 291 | 0.0309 | -6 | c.160 others(15): Show |
p.Glu others(13): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 2/2 | 1790/4986 | 1605/1653 | 535/550 | chr14 | TogoVar | |||
HOXC8_chr12_54003985_54017769 | 54009528 | CACGGAGA others(8): Show |
C | disruptive_inframe_deletion | MODERATE | HG02647.hp1 | a0003 | a0003c0003 | a0003c0003t0020 | a0003c0003t0020g0001 | 1 | 304 | 0.0033 | -15 | c.246 others(22): Show |
p.His others(17): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 1/2 | 546/2417 | 246/729 | 82/242 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
HOXD13_chr2_176087721_176100944 | 176093057 | GGGCGGCG others(5): Show |
G | disruptive_inframe_deletion | MODERATE | HG02027.hp1 NA18978.hp1 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0001 a0005c0006t0001g0004 |
2 | 412 | 0.0049 | -12 | c.171 others(19): Show |
p.Ala others(11): Show |
HOXD13 | ENSG00000128714.6 | transcript | ENST00000392539.4 | protein_coding | 1/2 | 341/2416 | 171/1032 | 57/343 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
HOXD8_chr2_176124705_176137695 | 176130550 | CCGCACGC others(11): Show |
C | disruptive_inframe_deletion | MODERATE | HG02622.hp2 HG02886.hp1 HG03041.hp1 others(1): Show |
a0004 | a0004c0006 | a0004c0006t0001a0004c0006t0016 | a0004c0006t0001g0001 a0004c0006t0016g0001 |
4 | 398 | 0.0101 | -18 | c.194 others(25): Show |
p.Pro others(11): Show |
HOXD8 | ENSG00000175879.9 | transcript | ENST00000313173.6 | protein_coding | 1/2 | 856/2618 | 194/873 | 65/290 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
HRCT1_chr9_35901202_35912136 | 35906544 | GCCTCCAC others(32): Show |
G | disruptive_inframe_deletion | MODERATE | NA19002.hp2 | a0043 | a0043c0035 | a0043c0035t0001 | a0043c0035t0001g0000 | 1 | 428 | 0.0023 | -39 | c.281 others(46): Show |
p.Arg others(12): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 367/935 | 281/348 | 94/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
HRCT1_chr9_35901202_35912136 | 35906586 | TCCA | T | disruptive_inframe_deletion | MODERATE | HG00423.hp1 HG00438.hp1 HG00544.hp2 others(53): Show |
a0003a0005 | a0003c0004a0003c0009a0005c0005others(1): Show | a0003c0004t0001a0003c0009t0001a0005c0005t0001others(1): Show | a0003c0004t0001g0000 a0003c0009t0001g0000 a0005c0005t0001g0000 others(1): Show |
56 | 365 | 0.1534 | -3 | c.314 others(10): Show |
p.His others(6): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 400/935 | 314/348 | 105/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
HRC_chr19_49146198_49160396 | 49154453 | ACAT | A | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(129): Show |
a0002a0004a0008others(11): Show | a0002c0002a0002c0017a0002c0045others(16): Show | a0002c0002t0001a0002c0017t0001a0002c0045t0001others(16): Show | a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0015 others(28): Show |
132 | 355 | 0.3718 | -3 | c.782 others(10): Show |
p.Asp others(6): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1/6 | 943/2357 | 782/2100 | 261/699 | chr19 | TogoVar | |||
HRC_chr19_49146198_49160396 | 49154453 | ACATCAT | A | disruptive_inframe_deletion | MODERATE | HG02040.hp2 HG02109.hp1 HG02300.hp1 others(12): Show |
a0010a0017a0019others(6): Show | a0010c0012a0010c0056a0017c0052others(8): Show | a0010c0012t0001a0010c0056t0001a0017c0052t0001others(8): Show | a0010c0012t0001g0018 a0010c0056t0001g0081 a0017c0052t0001g0077 others(8): Show |
15 | 238 | 0.0630 | -6 | c.779 others(13): Show |
p.Asp others(13): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1/6 | 943/2357 | 779/2100 | 260/699 | chr19 | TogoVar | |||
HRC_chr19_49146198_49160396 | 49154453 | ACATCATC others(8): Show |
A | disruptive_inframe_deletion | MODERATE | HG02451.hp1 HG03139.hp1 HG03195.hp1 others(5): Show |
a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0009 | 8 | 231 | 0.0346 | -15 | c.770 others(22): Show |
p.Asp others(13): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1/6 | 943/2357 | 770/2100 | 257/699 | chr19 | TogoVar | |||
HRC_chr19_49146198_49160396 | 49154632 | TTCC | T | disruptive_inframe_deletion | MODERATE | HG02559.hp2 HG03831.hp1 HG03831.hp2 others(1): Show |
a0021a0031a0041 | a0021c0022a0031c0043a0041c0038 | a0021c0022t0001a0031c0043t0001a0041c0038t0001 | a0021c0022t0001g0029 a0031c0043t0001g0061 a0041c0038t0001g0050 |
4 | 285 | 0.0140 | -3 | c.603 others(10): Show |
p.Glu others(6): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1/6 | 764/2357 | 603/2100 | 201/699 | chr19 | TogoVar | |||
HRG_chr3_186661014_186683234 | 186677158 | GATC | G | disruptive_inframe_deletion | MODERATE | HG01175.hp2 HG02258.hp1 HG02280.hp1 others(4): Show |
a0009 | a0009c0009 | a0009c0009t0002 | a0009c0009t0002g0032 a0009c0009t0002g0048 a0009c0009t0002g0141 others(1): Show |
7 | 470 | 0.0149 | -3 | c.863 others(10): Show |
p.His others(6): Show |
HRG | ENSG00000113905.5 | transcript | ENST00000232003.5 | protein_coding | 7/7 | 881/1947 | 863/1578 | 288/525 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152213253 | TGAGCCAG others(1403): Show |
T | disruptive_inframe_deletion | MODERATE | HG00438.hp2 HG01109.hp1 HG02027.hp2 others(10): Show |
a0001 | a0001c0014a0001c0017a0001c0038others(2): Show | a0001c0014t0001a0001c0017t0005a0001c0038t0001others(2): Show | a0001c0014t0001g0013 a0001c0017t0005g0026 a0001c0017t0005g0151 others(3): Show |
13 | 328 | 0.0396 | -1410 | c.696 others(9): Show |
p.Gly others(15): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8451/9629 | 6966/8553 | 2322/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215156 | CGGGAAGA others(2813): Show |
C | disruptive_inframe_deletion | MODERATE | NA21309.hp2 | a0001 | a0001c0159 | a0001c0159t0013 | a0001c0159t0013g0159 | 1 | 415 | 0.0024 | -2820 | c.365 others(9): Show |
p.His others(15): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 6548/9629 | 3653/8553 | 1218/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215548 | CGATGACT others(701): Show |
C | disruptive_inframe_deletion | MODERATE | HG00438.hp2 HG02027.hp2 HG02040.hp1 others(1): Show |
a0001 | a0001c0017 | a0001c0017t0005 | a0001c0017t0005g0026 a0001c0017t0005g0151 |
4 | 415 | 0.0096 | -708 | c.537 others(9): Show |
p.Thr others(15): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 6156/9629 | 5373/8553 | 1791/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152216566 | CGGGAAGA others(1403): Show |
C | disruptive_inframe_deletion | MODERATE | HG00408.hp2 HG00609.hp1 HG00673.hp1 others(67): Show |
a0001a0013 | a0001c0002a0001c0004a0001c0039others(5): Show | a0001c0002t0002a0001c0002t0012a0001c0004t0003others(6): Show | a0001c0002t0002g0002 a0001c0002t0002g0031 a0001c0002t0002g0034 others(10): Show |
70 | 414 | 0.1691 | -1410 | c.365 others(9): Show |
p.His others(15): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 5138/9629 | 3653/8553 | 1218/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152218701 | GCTAGATC others(1391): Show |
G | disruptive_inframe_deletion | MODERATE | HG02145.hp2 | a0001 | a0001c0149 | a0001c0149t0001 | a0001c0149t0001g0064 | 1 | 416 | 0.0024 | -1398 | c.153 others(9): Show |
p.Ala others(13): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 3003/9629 | 1530/8553 | 510/2850 | chr1 | TogoVar | |||
HSPA1B_chr6_31822738_31835254 | 31829755 | TGTGTAAC others(44): Show |
T | disruptive_inframe_deletion | MODERATE | HG00735.hp2 | a0005 | a0005c0019 | a0005c0019t0001 | a0005c0019t0001g0000 | 1 | 420 | 0.0024 | -51 | c.180 others(60): Show |
p.Cys others(13): Show |
HSPA1B | ENSG00000204388.7 | transcript | ENST00000375650.5 | protein_coding | 1/1 | 2019/2517 | 1806/1926 | 602/641 | chr6 | TogoVar | |||
HTT_chr4_3069681_3248957 | 3074876 | CCAG | C | disruptive_inframe_deletion | MODERATE | HG00738.hp2 HG01109.hp1 HG01175.hp2 others(30): Show |
a0004a0005a0046 | a0004c0013a0004c0019a0004c0031others(14): Show | a0004c0013t0001a0004c0019t0001a0004c0031t0001others(15): Show | a0004c0013t0001g0223 a0004c0013t0001g0229 a0004c0013t0001g0248 others(30): Show |
33 | 164 | 0.2012 | -3 | c.108 others(10): Show |
p.Gln others(5): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 1/67 | 253/13472 | 108/9429 | 36/3142 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
HTT_chr4_3069681_3248957 | 3074876 | CCAGCAG | C | disruptive_inframe_deletion | MODERATE | HG00423.hp1 HG00609.hp2 HG00639.hp2 others(58): Show |
a0001a0035a0038 | a0001c0002a0001c0003a0001c0012others(14): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0003others(17): Show | a0001c0002t0001g0092 a0001c0002t0001g0194 a0001c0002t0001g0230 others(58): Show |
61 | 192 | 0.3177 | -6 | c.105 others(13): Show |
p.Gln others(11): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 1/67 | 250/13472 | 105/9429 | 35/3142 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
HTT_chr4_3069681_3248957 | 3074876 | CCAGCAGC others(2): Show |
C | disruptive_inframe_deletion | MODERATE | HG00735.hp2 HG02071.hp2 HG02145.hp1 others(16): Show |
a0006a0017a0029 | a0006c0004a0006c0011a0006c0053others(4): Show | a0006c0004t0001a0006c0011t0001a0006c0053t0001others(5): Show | a0006c0004t0001g0001 a0006c0004t0001g0057 a0006c0004t0001g0058 others(15): Show |
19 | 150 | 0.1267 | -9 | c.102 others(16): Show |
p.Gln others(11): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 1/67 | 247/13472 | 102/9429 | 34/3142 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
HTT_chr4_3069681_3248957 | 3074876 | CCAGCAGC others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG01074.hp1 HG01257.hp1 HG01258.hp1 others(8): Show |
a0008a0026 | a0008c0007a0008c0025a0008c0050others(2): Show | a0008c0007t0001a0008c0025t0002a0008c0050t0001others(2): Show | a0008c0007t0001g0189 a0008c0007t0001g0227 a0008c0007t0001g0231 others(8): Show |
11 | 142 | 0.0775 | -12 | c.99_ others(18): Show |
p.Gln others(11): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 1/67 | 244/13472 | 99/9429 | 33/3142 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
HTT_chr4_3069681_3248957 | 3074876 | CCAGCAGC others(8): Show |
C | disruptive_inframe_deletion | MODERATE | HG01891.hp1 | a0039 | a0039c0049 | a0039c0049t0001 | a0039c0049t0001g0056 | 1 | 132 | 0.0076 | -15 | c.96_ others(21): Show |
p.Gln others(11): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 1/67 | 241/13472 | 96/9429 | 32/3142 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |