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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GARIN2_chr14_67184440_67228940 | 67198163 | TGAA | T | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00621.hp1 HG01123.hp2 others(24): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0001 | a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0085 others(21): Show |
27 | 330 | 0.0818 | -3 | c.9_1 others(7): Show |
p.Lys others(4): Show |
GARIN2 | ENSG00000172717.17 | transcript | ENST00000696955.1 | protein_coding | 3/8 | 252/1620 | 9/1254 | 3/417 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
GARIN5B_chr19_55349908_55368260 | 55358511 | GGCTCCTT others(17): Show |
G | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(298): Show |
a0001a0003a0005others(27): Show | a0001c0001a0001c0014a0001c0028others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(112): Show |
301 | 354 | 0.8503 | -24 | c.233 others(33): Show |
p.Gln others(13): Show |
GARIN5B | ENSG00000180043.11 | transcript | ENST00000424985.3 | protein_coding | 9/11 | 2550/3191 | 2333/2769 | 778/922 | chr19 | TogoVar | |||
GARRE1_chr19_34249554_34360566 | 34352848 | ACCCCACC others(5): Show |
A | disruptive_inframe_deletion | MODERATE | HG01168.hp1 HG01169.hp1 HG02602.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0155 a0002c0003t0003g0156 a0002c0003t0003g0157 |
3 | 324 | 0.0093 | -12 | c.311 others(21): Show |
p.Gln others(15): Show |
GARRE1 | ENSG00000166398.14 | transcript | ENST00000299505.8 | protein_coding | 14/14 | 3972/6680 | 3116/3213 | 1039/1070 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
GATAD1_chr7_92442482_92465075 | 92447840 | CGGCGCGG others(8): Show |
C | disruptive_inframe_deletion | MODERATE | HG02155.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0034 | 1 | 328 | 0.0030 | -15 | c.117 others(22): Show |
p.Gly others(11): Show |
GATAD1 | ENSG00000157259.8 | transcript | ENST00000287957.5 | protein_coding | 1/5 | 365/4571 | 117/810 | 39/269 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
GCNA_chrX_71573437_71618583 | 71603724 | CGACGACA others(23): Show |
C | disruptive_inframe_deletion | MODERATE | HG00735.hp2 HG02895.hp1 HG02897.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0170 others(1): Show |
4 | 263 | 0.0152 | -30 | c.477 others(37): Show |
p.Asp others(13): Show |
GCNA | ENSG00000147174.12 | transcript | ENST00000373696.8 | protein_coding | 8/13 | 565/2765 | 477/2076 | 159/691 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
GDF2_chr10_47317454_47332588 | 47324861 | ACAGAGGA others(26): Show |
A | disruptive_inframe_deletion | MODERATE | HG01070.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0026 | 1 | 422 | 0.0024 | -33 | c.368 others(40): Show |
p.Thr others(19): Show |
GDF2 | ENSG00000263761.3 | transcript | ENST00000581492.3 | protein_coding | 2/2 | 583/3309 | 368/1290 | 123/429 | chr10 | TogoVar | |||
GDF7_chr2_20662144_20684243 | 20667362 | GGGC | G | disruptive_inframe_deletion | MODERATE | HG01346.hp2 HG02809.hp1 HG02809.hp2 others(1): Show |
a0008 | a0008c0011 | a0008c0011t0044a0008c0011t0163a0008c0011t0232 | a0008c0011t0044g0013 a0008c0011t0163g0013 a0008c0011t0232g0013 |
4 | 10 | 0.4000 | -3 | c.147 others(10): Show |
p.Gly others(5): Show |
GDF7 | ENSG00000143869.7 | transcript | ENST00000272224.5 | protein_coding | 1/2 | 243/9267 | 147/1353 | 49/450 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
GFM2_chr5_74716206_74772117 | 74726021 | TACTCAA | T | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(147): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0005a0002c0006others(10): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(12): Show | a0002c0002t0001g0020 a0002c0002t0001g0134 a0002c0002t0001g0147 others(124): Show |
150 | 370 | 0.4054 | -6 | c.182 others(15): Show |
p.Phe others(13): Show |
GFM2 | ENSG00000164347.18 | transcript | ENST00000296805.8 | protein_coding | 18/21 | 2035/2993 | 1826/2340 | 609/779 | chr5 | TogoVar | |||
GIGYF2_chr2_232692331_232865605 | 232847499 | TCAGCAGC others(14): Show |
T | disruptive_inframe_deletion | MODERATE | HG01175.hp2 NA20905.hp1 |
a0003 | a0003c0007 | a0003c0007t0011 | a0003c0007t0011g0329 a0003c0007t0011g0356 |
2 | 373 | 0.0054 | -21 | c.362 others(30): Show |
p.Leu others(15): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 27/29 | 3797/7816 | 3626/3900 | 1209/1299 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
GIGYF2_chr2_232692331_232865605 | 232847499 | TCAGCAGC others(17): Show |
T | disruptive_inframe_deletion | MODERATE | NA18951.hp1 | a0010 | a0010c0013 | a0010c0013t0003 | a0010c0013t0003g0145 | 1 | 372 | 0.0027 | -24 | c.362 others(33): Show |
p.Leu others(15): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 27/29 | 3797/7816 | 3626/3900 | 1209/1299 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
GIGYF2_chr2_232692331_232865605 | 232847516 | CACA | C | disruptive_inframe_deletion | MODERATE | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(188): Show |
a0001a0004a0007others(2): Show | a0001c0002a0001c0003a0001c0005others(8): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(23): Show | a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 others(188): Show |
191 | 321 | 0.5950 | -3 | c.363 others(12): Show |
p.Gln others(7): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 27/29 | 3801/7816 | 3630/3900 | 1210/1299 | chr2 | TogoVar | |||
GNAL_chr18_11684264_11890685 | 11689670 | CGGCCCT | C | disruptive_inframe_deletion | MODERATE | HG02145.hp2 HG02572.hp1 HG02976.hp2 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0034a0003c0004t0035a0003c0004t0043others(3): Show | a0003c0004t0034g0002 a0003c0004t0035g0003 a0003c0004t0043g0006 others(3): Show |
6 | 216 | 0.0278 | -6 | c.113 others(13): Show |
p.Leu others(11): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 1/12 | 413/6227 | 113/1377 | 38/458 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||
GNAS_chr20_58847716_58916192 | 58854492 | AGATCCCG others(20): Show |
A | disruptive_inframe_deletion | MODERATE | HG02055.hp1 | a0007 | a0007c0026 | a0007c0026t0006 | a0007c0026t0006g0231 | 1 | 300 | 0.0033 | -27 | c.123 others(36): Show |
p.Asp others(13): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371100.9 | protein_coding | 1/13 | 1783/4027 | 1233/3114 | 411/1037 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
GOLGA2_chr9_128250829_128281007 | 128258516 | GCCT | G | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(119): Show |
a0002a0003a0005others(4): Show | a0002c0002a0002c0021a0002c0022others(9): Show | a0002c0002t0003a0002c0002t0009a0002c0002t0011others(13): Show | a0002c0002t0003g0003 a0002c0002t0003g0004 a0002c0002t0003g0015 others(63): Show |
122 | 364 | 0.3352 | -3 | c.222 others(12): Show |
p.Glu others(6): Show |
GOLGA2 | ENSG00000167110.19 | transcript | ENST00000611957.5 | protein_coding | 22/27 | 2258/4359 | 2225/3090 | 742/1029 | chr9 | TogoVar | |||
GOLGA2_chr9_128250829_128281007 | 128258516 | GCCTCCT | G | disruptive_inframe_deletion | MODERATE | HG01891.hp2 HG02109.hp2 HG02145.hp2 others(19): Show |
a0004 | a0004c0006a0004c0008a0004c0014 | a0004c0006t0001a0004c0006t0004a0004c0006t0006others(3): Show | a0004c0006t0001g0037 a0004c0006t0001g0088 a0004c0006t0001g0089 others(9): Show |
22 | 264 | 0.0833 | -6 | c.222 others(15): Show |
p.Glu others(13): Show |
GOLGA2 | ENSG00000167110.19 | transcript | ENST00000611957.5 | protein_coding | 22/27 | 2258/4359 | 2222/3090 | 741/1029 | chr9 | TogoVar | |||
GOLGA6A_chr15_74064857_74087550 | 74074580 | TAGCCTCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | HG02559.hp2 | a0016 | a0016c0031 | a0016c0031t0001 | a0016c0031t0001g0117 | 1 | 136 | 0.0074 | -21 | c.124 others(30): Show |
p.Trp others(13): Show |
GOLGA6A | ENSG00000159289.6 | transcript | ENST00000290438.3 | protein_coding | 11/18 | 1309/3176 | 1248/2082 | 416/693 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82344643 | CCCAGCTC others(11): Show |
C | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00408.hp2 HG02056.hp2 others(3): Show |
a0008 | a0008c0009 | a0008c0009t0003a0008c0009t0016 | a0008c0009t0003g0030 a0008c0009t0003g0100 a0008c0009t0003g0117 others(1): Show |
6 | 299 | 0.0201 | -18 | c.119 others(27): Show |
p.Glu others(13): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 1316/4452 | 1199/1569 | 400/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82344643 | CCCAGCTC others(29): Show |
C | disruptive_inframe_deletion | MODERATE | HG03471.hp1 | a0027 | a0027c0033 | a0027c0033t0038 | a0027c0033t0038g0053 | 1 | 294 | 0.0034 | -36 | c.118 others(45): Show |
p.Glu others(13): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 1316/4452 | 1181/1569 | 394/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82344900 | CAGCCTCT others(119): Show |
C | disruptive_inframe_deletion | MODERATE | HG01069.hp1 | a0021 | a0021c0046 | a0021c0046t0024 | a0021c0046t0024g0129 | 1 | 300 | 0.0033 | -126 | c.834 others(7): Show |
p.Arg others(13): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 1059/4452 | 834/1569 | 278/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82344963 | TAGCCTCT others(140): Show |
T | disruptive_inframe_deletion | MODERATE | HG00639.hp2 HG00735.hp1 HG01361.hp2 others(2): Show |
a0004 | a0004c0004 | a0004c0004t0009 | a0004c0004t0009g0010 | 5 | 300 | 0.0167 | -147 | c.750 others(7): Show |
p.Cys others(13): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 996/4452 | 750/1569 | 250/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82344981 | ACACAGCC others(8): Show |
A | disruptive_inframe_deletion | MODERATE | HG02040.hp2 NA19084.hp2 |
a0024a0042 | a0024c0027a0042c0034 | a0024c0027t0001a0042c0034t0001 | a0024c0027t0001g0069 a0042c0034t0001g0080 |
2 | 300 | 0.0067 | -15 | c.864 others(22): Show |
p.Gln others(19): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 978/4452 | 864/1569 | 288/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82344984 | CAGCCTCT others(14): Show |
C | disruptive_inframe_deletion | MODERATE | NA18522.hp2 | a0031 | a0031c0020 | a0031c0020t0039 | a0031c0020t0039g0045 | 1 | 297 | 0.0034 | -21 | c.855 others(28): Show |
p.Cys others(13): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 975/4452 | 855/1569 | 285/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82344984 | CAGCCTCT others(35): Show |
C | disruptive_inframe_deletion | MODERATE | HG03139.hp1 NA18522.hp1 |
a0003 | a0003c0003 | a0003c0003t0005a0003c0003t0028 | a0003c0003t0005g0013 a0003c0003t0028g0108 |
2 | 298 | 0.0067 | -42 | c.834 others(49): Show |
p.Arg others(13): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 975/4452 | 834/1569 | 278/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345045 | CGTAGCCT others(182): Show |
C | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00408.hp2 HG02056.hp2 others(9): Show |
a0008a0012a0027others(1): Show | a0008c0009a0012c0018a0012c0019others(2): Show | a0008c0009t0003a0008c0009t0016a0012c0018t0003others(3): Show | a0008c0009t0003g0030 a0008c0009t0003g0100 a0008c0009t0003g0117 others(7): Show |
12 | 283 | 0.0424 | -189 | c.626 others(7): Show |
p.His others(13): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 914/4452 | 626/1569 | 209/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345047 | TAGCCTCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | NA18972.hp2 | a0034 | a0034c0035 | a0034c0035t0037 | a0034c0035t0037g0054 | 1 | 299 | 0.0033 | -21 | c.792 others(28): Show |
p.Cys others(13): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 912/4452 | 792/1569 | 264/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345089 | TAGCCTCT others(56): Show |
T | disruptive_inframe_deletion | MODERATE | HG02723.hp1 HG02922.hp2 HG03540.hp1 others(3): Show |
a0010 | a0010c0010a0010c0021 | a0010c0010t0003a0010c0010t0032a0010c0021t0003 | a0010c0010t0003g0031 a0010c0010t0003g0098 a0010c0010t0003g0112 others(2): Show |
6 | 299 | 0.0201 | -63 | c.708 others(70): Show |
p.Cys others(13): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 870/4452 | 708/1569 | 236/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345131 | TAGCCTCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | NA18522.hp2 | a0031 | a0031c0020 | a0031c0020t0039 | a0031c0020t0039g0045 | 1 | 296 | 0.0034 | -21 | c.708 others(28): Show |
p.Cys others(13): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 828/4452 | 708/1569 | 236/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345150 | CACAGCCT others(77): Show |
C | disruptive_inframe_deletion | MODERATE | NA18522.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0013 | 1 | 300 | 0.0033 | -84 | c.626 others(91): Show |
p.His others(19): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 809/4452 | 626/1569 | 209/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345171 | CGTAGCCT others(56): Show |
C | disruptive_inframe_deletion | MODERATE | HG02723.hp1 HG02922.hp2 HG03540.hp1 others(3): Show |
a0010 | a0010c0010a0010c0021 | a0010c0010t0003a0010c0010t0032a0010c0021t0003 | a0010c0010t0003g0031 a0010c0010t0003g0098 a0010c0010t0003g0112 others(2): Show |
6 | 299 | 0.0201 | -63 | c.626 others(70): Show |
p.His others(13): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 788/4452 | 626/1569 | 209/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345192 | CACAGCCT others(35): Show |
C | disruptive_inframe_deletion | MODERATE | HG00140.hp2 HG00423.hp1 HG00609.hp2 others(51): Show |
a0003a0019a0033 | a0003c0003a0019c0038a0033c0030 | a0003c0003t0003a0003c0003t0005a0003c0003t0014others(7): Show | a0003c0003t0003g0002 a0003c0003t0003g0011 a0003c0003t0003g0014 others(18): Show |
54 | 300 | 0.1800 | -42 | c.626 others(49): Show |
p.His others(19): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 767/4452 | 626/1569 | 209/522 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23129575 | TTCCTGCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | HG03239.hp2 | a0038 | a0038c0035 | a0038c0035t0001 | a0038c0035t0001g0077 | 1 | 204 | 0.0049 | -21 | c.185 others(30): Show |
p.Glu others(13): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1968/3822 | 1857/2007 | 619/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23129668 | CCATATCT others(14): Show |
C | disruptive_inframe_deletion | MODERATE | HG02970.hp2 | a0035 | a0035c0039 | a0035c0039t0003 | a0035c0039t0003g0052 | 1 | 203 | 0.0049 | -21 | c.176 others(30): Show |
p.Glu others(13): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1875/3822 | 1764/2007 | 588/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23129668 | CCATATCT others(158): Show |
C | disruptive_inframe_deletion | MODERATE | HG03239.hp2 | a0038 | a0038c0035 | a0038c0035t0001 | a0038c0035t0001g0077 | 1 | 203 | 0.0049 | -165 | c.162 others(9): Show |
p.Glu others(13): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1875/3822 | 1620/2007 | 540/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23129689 | TCGTATCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | HG02135.hp2 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0064 | 1 | 197 | 0.0051 | -21 | c.174 others(30): Show |
p.Glu others(13): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1854/3822 | 1743/2007 | 581/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23129749 | CCTCCGCA others(11): Show |
C | disruptive_inframe_deletion | MODERATE | HG00741.hp1 HG01192.hp2 HG02273.hp2 others(4): Show |
a0012a0016a0036others(1): Show | a0012c0020a0012c0054a0016c0012others(2): Show | a0012c0020t0004a0012c0020t0023a0012c0054t0024others(3): Show | a0012c0020t0004g0119 a0012c0020t0023g0117 a0012c0054t0024g0120 others(3): Show |
7 | 204 | 0.0343 | -18 | c.168 others(27): Show |
p.Gln others(13): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1794/3822 | 1686/2007 | 562/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23129819 | ATCTCCTC others(14): Show |
A | disruptive_inframe_deletion | MODERATE | HG00621.hp2 | a0025 | a0025c0044 | a0025c0044t0003 | a0025c0044t0003g0087 | 1 | 202 | 0.0050 | -21 | c.161 others(30): Show |
p.Lys others(13): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1724/3822 | 1613/2007 | 538/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23130316 | TATCTTCT others(35): Show |
T | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG00438.hp2 HG00544.hp2 others(24): Show |
a0003a0010a0024others(4): Show | a0003c0003a0003c0047a0010c0017others(7): Show | a0003c0003t0002a0003c0003t0018a0003c0047t0002others(9): Show | a0003c0003t0002g0005 a0003c0003t0002g0014 a0003c0003t0002g0015 others(17): Show |
27 | 200 | 0.1350 | -42 | c.109 others(51): Show |
p.Met others(13): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1227/3822 | 1095/2007 | 365/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23136585 | AGGATGGG others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG00323.hp1 HG00621.hp2 HG00735.hp2 others(22): Show |
a0002a0016a0019others(1): Show | a0002c0002a0002c0014a0002c0043others(3): Show | a0002c0002t0001a0002c0002t0021a0002c0014t0001others(4): Show | a0002c0002t0001g0003 a0002c0002t0001g0022 a0002c0002t0001g0023 others(13): Show |
25 | 141 | 0.1773 | -18 | c.129 others(25): Show |
p.His others(11): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 237/3822 | 129/2007 | 43/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23136585 | AGGATGGG others(29): Show |
A | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG00438.hp2 HG00544.hp2 others(37): Show |
a0003a0006a0009others(7): Show | a0003c0003a0003c0047a0006c0007others(10): Show | a0003c0003t0002a0003c0003t0018a0003c0047t0002others(14): Show | a0003c0003t0002g0005 a0003c0003t0002g0014 a0003c0003t0002g0015 others(26): Show |
40 | 156 | 0.2564 | -36 | c.111 others(43): Show |
p.His others(11): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 237/3822 | 111/2007 | 37/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23136585 | AGGATGGG others(47): Show |
A | disruptive_inframe_deletion | MODERATE | HG01243.hp1 HG01884.hp1 HG01952.hp2 others(7): Show |
a0011a0017a0022others(2): Show | a0011c0011a0011c0052a0017c0019others(3): Show | a0011c0011t0001a0011c0052t0001a0017c0019t0008others(3): Show | a0011c0011t0001g0027 a0011c0011t0001g0113 a0011c0052t0001g0110 others(5): Show |
10 | 126 | 0.0794 | -54 | c.93_ others(60): Show |
p.His others(11): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 237/3822 | 93/2007 | 31/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23136585 | AGGATGGG others(65): Show |
A | disruptive_inframe_deletion | MODERATE | HG00741.hp1 HG02273.hp2 HG02622.hp1 others(3): Show |
a0012a0020a0041 | a0012c0020a0012c0054a0020c0021others(1): Show | a0012c0020t0004a0012c0020t0023a0012c0054t0024others(2): Show | a0012c0020t0004g0119 a0012c0020t0023g0117 a0012c0054t0024g0120 others(3): Show |
6 | 122 | 0.0492 | -72 | c.75_ others(78): Show |
p.His others(11): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 237/3822 | 75/2007 | 25/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23136660 | ATGGGTAG others(47): Show |
A | disruptive_inframe_deletion | MODERATE | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(73): Show |
a0001a0007a0029others(1): Show | a0001c0001a0001c0034a0007c0005others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(28): Show |
76 | 204 | 0.3725 | -54 | c.18_ others(59): Show |
p.Gln others(10): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 162/3822 | 18/2007 | 6/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23136678 | ATGGGTAG others(29): Show |
A | disruptive_inframe_deletion | MODERATE | HG02451.hp1 HG02486.hp1 HG03471.hp2 others(2): Show |
a0008a0040 | a0008c0009a0040c0059 | a0008c0009t0001a0040c0059t0001 | a0008c0009t0001g0013 a0008c0009t0001g0123 a0040c0059t0001g0124 |
5 | 204 | 0.0245 | -36 | c.18_ others(41): Show |
p.Gln others(10): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 144/3822 | 18/2007 | 6/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23136696 | ATGGGTAG others(11): Show |
A | disruptive_inframe_deletion | MODERATE | NA19088.hp2 | a0047 | a0047c0058 | a0047c0058t0001 | a0047c0058t0001g0122 | 1 | 204 | 0.0049 | -18 | c.18_ others(23): Show |
p.Gln others(10): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 126/3822 | 18/2007 | 6/668 | chr15 | TogoVar | |||
GOLGA6L22_chr15_22453903_22474226 | 22459006 | CCCCAACC others(29): Show |
C | disruptive_inframe_deletion | MODERATE | HG00738.hp1 | a0007 | a0007c0015 | a0007c0015t0009 | a0007c0015t0009g0032 | 1 | 224 | 0.0045 | -36 | c.18_ others(41): Show |
p.Gln others(10): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 1/9 | 109/4401 | 18/2565 | 6/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22459011 | ACCCCACC others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG00738.hp2 HG01258.hp1 HG02027.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0003 | a0001c0001t0001g0001 a0004c0004t0003g0034 a0004c0004t0003g0035 |
6 | 20 | 0.3000 | -18 | c.111 others(25): Show |
p.His others(11): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 1/9 | 202/4401 | 111/2565 | 37/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22459011 | ACCCCACC others(29): Show |
A | disruptive_inframe_deletion | MODERATE | HG01891.hp1 HG01891.hp2 HG02451.hp1 others(7): Show |
a0003a0005 | a0003c0003a0003c0005a0005c0006 | a0003c0003t0003a0003c0003t0004a0003c0005t0004others(2): Show | a0003c0003t0003g0005 a0003c0003t0003g0029 a0003c0003t0004g0033 others(5): Show |
10 | 24 | 0.4167 | -36 | c.93_ others(42): Show |
p.His others(11): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 1/9 | 184/4401 | 93/2565 | 31/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22459011 | ACCCCACC others(47): Show |
A | disruptive_inframe_deletion | MODERATE | HG01361.hp2 NA19007.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0002g0001 |
3 | 17 | 0.1765 | -54 | c.75_ others(60): Show |
p.His others(11): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 1/9 | 166/4401 | 75/2565 | 25/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22465239 | CAGGAGGA others(35): Show |
C | disruptive_inframe_deletion | MODERATE | HG01891.hp1 HG02129.hp2 HG02970.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0001 a0003c0003t0003g0005 |
3 | 224 | 0.0134 | -42 | c.103 others(51): Show |
p.Met others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1126/4401 | 1035/2565 | 345/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22465822 | GGCAGGAG others(14): Show |
G | disruptive_inframe_deletion | MODERATE | HG00738.hp1 HG01891.hp2 HG03453.hp2 |
a0003a0007 | a0003c0003a0007c0015 | a0003c0003t0003a0003c0003t0004a0007c0015t0009 | a0003c0003t0003g0029 a0003c0003t0004g0033 a0007c0015t0009g0032 |
3 | 224 | 0.0134 | -21 | c.159 others(30): Show |
p.Lys others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1686/4401 | 1595/2565 | 532/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |