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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GARIN5B_chr19_55349908_55368260 | 55359429 | C | CGGGATGG others(23): Show |
conservative_inframe_insertion | MODERATE | HG00738.hp1 HG01891.hp2 HG02572.hp1 others(5): Show |
a0009a0020a0028 | a0009c0009a0020c0024a0028c0020 | a0009c0009t0004a0009c0009t0008a0020c0024t0001others(1): Show | a0009c0009t0004g0012 a0009c0009t0004g0137 a0009c0009t0008g0136 others(2): Show |
8 | 354 | 0.0226 | 30 | c.140 others(39): Show |
p.Gln others(13): Show |
GARIN5B | ENSG00000180043.11 | transcript | ENST00000424985.3 | protein_coding | 9/11 | 1632/3191 | 1438/2769 | 480/922 | chr19 | TogoVar | |||
GAS2L3_chr12_100568684_100633288 | 100600497 | C | CCACTTTG others(26): Show |
conservative_inframe_insertion | MODERATE | NA18956.hp2 | a0007 | a0007c0009 | a0007c0009t0015 | a0007c0009t0015g0050 | 1 | 400 | 0.0025 | 33 | c.136 others(40): Show |
p.Thr others(11): Show |
GAS2L3 | ENSG00000139354.11 | transcript | ENST00000547754.6 | protein_coding | 4/10 | 422/5736 | 169/2085 | 57/694 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
GCNA_chrX_71573437_71618583 | 71603677 | A | AATG | conservative_inframe_insertion | MODERATE | HG02055.hp1 HG02257.hp1 |
a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0039 a0006c0006t0002g0040 |
2 | 263 | 0.0076 | 3 | c.403 others(10): Show |
p.Asp others(6): Show |
GCNA | ENSG00000147174.12 | transcript | ENST00000373696.8 | protein_coding | 8/13 | 494/2765 | 406/2076 | 136/691 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
GCNA_chrX_71573437_71618583 | 71603978 | T | TTCCCGAC others(23): Show |
conservative_inframe_insertion | MODERATE | HG02055.hp1 HG02056.hp1 HG02165.hp2 others(3): Show |
a0004a0006 | a0004c0004a0006c0006 | a0004c0004t0001a0006c0006t0002 | a0004c0004t0001g0013 a0004c0004t0001g0022 a0004c0004t0001g0027 others(3): Show |
6 | 263 | 0.0228 | 30 | c.823 others(37): Show |
p.Pro others(13): Show |
GCNA | ENSG00000147174.12 | transcript | ENST00000373696.8 | protein_coding | 8/13 | 941/2765 | 853/2076 | 285/691 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
GGA3_chr17_75231599_75266606 | 75239519 | G | GGGT | conservative_inframe_insertion | MODERATE | HG01884.hp2 HG02258.hp1 HG02717.hp1 others(3): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0031 a0003c0005t0001g0141 a0003c0005t0001g0196 others(2): Show |
6 | 362 | 0.0166 | 3 | c.163 others(12): Show |
p.Thr others(6): Show |
GGA3 | ENSG00000125447.18 | transcript | ENST00000537686.6 | protein_coding | 14/17 | 1654/3871 | 1635/2172 | 545/723 | chr17 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82344656 | T | TCCTCTCC others(11): Show |
conservative_inframe_insertion | MODERATE | HG00639.hp2 HG00735.hp1 HG01361.hp2 others(2): Show |
a0004 | a0004c0004 | a0004c0004t0009 | a0004c0004t0009g0010 | 5 | 205 | 0.0244 | 18 | c.118 others(27): Show |
p.Arg others(31): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 1303/4452 | 1203/1569 | 401/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82344688 | C | CGCAGCCT others(11): Show |
conservative_inframe_insertion | MODERATE | NA18522.hp2 | a0031 | a0031c0020 | a0031c0020t0039 | a0031c0020t0039g0045 | 1 | 300 | 0.0033 | 18 | c.117 others(27): Show |
p.Leu others(31): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 1271/4452 | 1171/1569 | 391/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82344887 | T | TCTCCTGT others(35): Show |
conservative_inframe_insertion | MODERATE | HG01257.hp1 HG01928.hp2 HG01943.hp1 others(4): Show |
a0009a0023 | a0009c0008a0023c0039 | a0009c0008t0001a0009c0008t0007a0023c0039t0009 | a0009c0008t0001g0091 a0009c0008t0007g0012 a0009c0008t0007g0061 others(1): Show |
7 | 298 | 0.0235 | 42 | c.931 others(49): Show |
p.Glu others(55): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 1072/4452 | 972/1569 | 324/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82344920 | A | ATAGCCTC others(35): Show |
conservative_inframe_insertion | MODERATE | HG01257.hp1 HG01515.hp1 HG01517.hp1 |
a0005a0023 | a0005c0007a0023c0039 | a0005c0007t0001a0023c0039t0009 | a0005c0007t0001g0021 a0023c0039t0009g0062 |
3 | 208 | 0.0144 | 42 | c.939 others(49): Show |
p.Leu others(55): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 1039/4452 | 939/1569 | 313/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82344920 | A | ATAGCCTC others(77): Show |
conservative_inframe_insertion | MODERATE | HG00438.hp2 HG00733.hp2 HG02004.hp2 others(2): Show |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0008 | 5 | 210 | 0.0238 | 84 | c.939 others(91): Show |
p.Leu others(97): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 1039/4452 | 939/1569 | 313/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345003 | C | CGTAGCCT others(77): Show |
conservative_inframe_insertion | MODERATE | NA19043.hp2 | a0037 | a0037c0025 | a0037c0025t0006 | a0037c0025t0006g0057 | 1 | 299 | 0.0033 | 84 | c.856 others(91): Show |
p.Cys others(96): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 956/4452 | 856/1569 | 286/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345004 | A | ATAGCCTC others(35): Show |
conservative_inframe_insertion | MODERATE | HG02683.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0004 | 1 | 94 | 0.0106 | 42 | c.814 others(49): Show |
p.Leu others(55): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 955/4452 | 855/1569 | 285/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345024 | C | CACAGCCT others(35): Show |
conservative_inframe_insertion | MODERATE | HG03471.hp2 | a0028 | a0028c0023 | a0028c0023t0006 | a0028c0023t0006g0059 | 1 | 290 | 0.0034 | 42 | c.835 others(49): Show |
p.Arg others(54): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 935/4452 | 835/1569 | 279/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345024 | C | CACAGCCT others(56): Show |
conservative_inframe_insertion | MODERATE | HG00735.hp2 HG01928.hp1 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0005 | 2 | 291 | 0.0069 | 63 | c.835 others(70): Show |
p.Arg others(75): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 935/4452 | 835/1569 | 279/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345024 | C | CACAGCCT others(77): Show |
conservative_inframe_insertion | MODERATE | HG01981.hp2 HG02004.hp1 HG02293.hp1 others(2): Show |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0005 a0006c0006t0001g0090 |
5 | 294 | 0.0170 | 84 | c.835 others(91): Show |
p.Arg others(96): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 935/4452 | 835/1569 | 279/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345045 | C | CACAGCCT others(14): Show |
conservative_inframe_insertion | MODERATE | HG02622.hp2 HG02717.hp1 HG02717.hp2 |
a0015 | a0015c0014a0015c0024 | a0015c0014t0006a0015c0024t0006 | a0015c0014t0006g0022 a0015c0024t0006g0060 |
3 | 274 | 0.0109 | 21 | c.814 others(28): Show |
p.Arg others(33): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 914/4452 | 814/1569 | 272/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345076 | C | CCTCCTGT others(35): Show |
conservative_inframe_insertion | MODERATE | NA19055.hp2 | a0039 | a0039c0026 | a0039c0026t0001 | a0039c0026t0001g0071 | 1 | 300 | 0.0033 | 42 | c.783 others(49): Show |
p.Glu others(55): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 883/4452 | 783/1569 | 261/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345084 | T | TCATGTAG others(35): Show |
conservative_inframe_insertion | MODERATE | NA19070.hp1 | a0040 | a0040c0047 | a0040c0047t0002 | a0040c0047t0002g0125 | 1 | 297 | 0.0034 | 42 | c.775 others(49): Show |
p.Arg others(55): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 875/4452 | 775/1569 | 259/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345087 | C | CACAGCCT others(35): Show |
conservative_inframe_insertion | MODERATE | NA18984.hp1 | a0035 | a0035c0048 | a0035c0048t0002 | a0035c0048t0002g0131 | 1 | 229 | 0.0044 | 42 | c.772 others(49): Show |
p.Arg others(54): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 872/4452 | 772/1569 | 258/522 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23129607 | A | ACATCTTC others(161): Show |
conservative_inframe_insertion | MODERATE | HG02258.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
a0010a0033 | a0010c0017a0010c0045a0033c0037 | a0010c0017t0006a0010c0017t0009a0010c0045t0006others(1): Show | a0010c0017t0006g0107 a0010c0017t0009g0103 a0010c0045t0006g0106 others(1): Show |
4 | 198 | 0.0202 | 168 | c.184 others(177): Show |
p.Met others(181): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1936/3822 | 1845/2007 | 615/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23129607 | A | ACATCTTC others(308): Show |
conservative_inframe_insertion | MODERATE | HG03130.hp2 | a0037 | a0037c0057 | a0037c0057t0009 | a0037c0057t0009g0121 | 1 | 195 | 0.0051 | 315 | c.184 others(324): Show |
p.Met others(328): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1936/3822 | 1845/2007 | 615/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23129675 | T | TTCTTCTC others(119): Show |
conservative_inframe_insertion | MODERATE | HG00408.hp1 HG00438.hp2 HG00544.hp2 others(17): Show |
a0003a0024a0026others(1): Show | a0003c0003a0003c0047a0024c0048others(2): Show | a0003c0003t0002a0003c0003t0018a0003c0047t0002others(3): Show | a0003c0003t0002g0005 a0003c0003t0002g0014 a0003c0003t0002g0015 others(11): Show |
20 | 203 | 0.0985 | 126 | c.177 others(135): Show |
p.Glu others(139): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1868/3822 | 1777/2007 | 593/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23129675 | T | TTCTTCTC others(119): Show |
conservative_inframe_insertion | MODERATE | NA18977.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0005 | 1 | 184 | 0.0054 | 126 | c.177 others(135): Show |
p.Glu others(139): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1868/3822 | 1777/2007 | 593/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23129733 | T | TTATCTTC others(293): Show |
conservative_inframe_insertion | MODERATE | HG01074.hp1 | a0027 | a0027c0033 | a0027c0033t0001 | a0027c0033t0001g0074 | 1 | 196 | 0.0051 | 300 | c.171 others(309): Show |
p.Ile others(313): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1810/3822 | 1719/2007 | 573/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23129760 | T | TCTC | conservative_inframe_insertion | MODERATE | HG00408.hp1 HG00438.hp2 HG00544.hp2 others(18): Show |
a0003a0024a0026others(1): Show | a0003c0003a0003c0047a0024c0048others(2): Show | a0003c0003t0002a0003c0003t0018a0003c0047t0002others(3): Show | a0003c0003t0002g0005 a0003c0003t0002g0014 a0003c0003t0002g0015 others(11): Show |
21 | 204 | 0.1029 | 3 | c.169 others(12): Show |
p.Glu others(6): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1783/3822 | 1692/2007 | 564/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23129819 | A | ATCTCCTC others(77): Show |
conservative_inframe_insertion | MODERATE | HG04115.hp1 | a0043 | a0043c0031 | a0043c0031t0017 | a0043c0031t0017g0030 | 1 | 202 | 0.0050 | 84 | c.163 others(93): Show |
p.Glu others(97): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1724/3822 | 1633/2007 | 545/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23129861 | T | TTCTCCTC others(236): Show |
conservative_inframe_insertion | MODERATE | HG02258.hp1 HG02572.hp1 HG02965.hp1 others(3): Show |
a0010a0033a0037 | a0010c0017a0010c0045a0010c0050others(2): Show | a0010c0017t0006a0010c0017t0009a0010c0045t0006others(3): Show | a0010c0017t0006g0107 a0010c0017t0009g0103 a0010c0045t0006g0106 others(3): Show |
6 | 204 | 0.0294 | 243 | c.159 others(252): Show |
p.Glu others(256): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1682/3822 | 1591/2007 | 531/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23129988 | T | TCTC | conservative_inframe_insertion | MODERATE | HG00408.hp1 HG00438.hp2 HG00544.hp2 others(31): Show |
a0003a0010a0012others(8): Show | a0003c0003a0003c0047a0010c0017others(12): Show | a0003c0003t0002a0003c0003t0018a0003c0047t0002others(15): Show | a0003c0003t0002g0005 a0003c0003t0002g0014 a0003c0003t0002g0015 others(23): Show |
34 | 204 | 0.1667 | 3 | c.146 others(12): Show |
p.Glu others(6): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1555/3822 | 1464/2007 | 488/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23130350 | A | AGCCTCCG others(35): Show |
conservative_inframe_insertion | MODERATE | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(90): Show |
a0001a0005a0007others(8): Show | a0001c0001a0001c0034a0005c0006others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(41): Show |
93 | 193 | 0.4819 | 42 | c.106 others(51): Show |
p.Gln others(13): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1193/3822 | 1102/2007 | 368/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23130366 | C | CCTCCTTC others(32): Show |
conservative_inframe_insertion | MODERATE | HG01516.hp1 | a0030 | a0030c0030 | a0030c0030t0001 | a0030c0030t0001g0081 | 1 | 204 | 0.0049 | 39 | c.104 others(48): Show |
p.Glu others(52): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1177/3822 | 1086/2007 | 362/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23130404 | T | TTCTCCTC others(14): Show |
conservative_inframe_insertion | MODERATE | HG01243.hp2 | a0028 | a0028c0041 | a0028c0041t0015 | a0028c0041t0015g0073 | 1 | 204 | 0.0049 | 21 | c.102 others(30): Show |
p.Met others(13): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1139/3822 | 1048/2007 | 350/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23136587 | G | GATGGGTA others(29): Show |
conservative_inframe_insertion | MODERATE | HG02647.hp1 | a0034 | a0034c0042 | a0034c0042t0003 | a0034c0042t0003g0085 | 1 | 203 | 0.0049 | 36 | c.144 others(43): Show |
p.His others(47): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 235/3822 | 144/2007 | 48/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23136599 | G | GGTGGGGA others(11): Show |
conservative_inframe_insertion | MODERATE | HG02451.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0061 |
2 | 204 | 0.0098 | 18 | c.132 others(25): Show |
p.His others(29): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 223/3822 | 132/2007 | 44/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23136605 | G | GATGGGTA others(11): Show |
conservative_inframe_insertion | MODERATE | NA18906.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0084 | 1 | 204 | 0.0049 | 18 | c.126 others(25): Show |
p.His others(29): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 217/3822 | 126/2007 | 42/668 | chr15 | TogoVar | |||
GOLGA6L22_chr15_22453903_22474226 | 22459036 | C | CTCCCTAC others(137): Show |
conservative_inframe_insertion | MODERATE | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 224 | 0.0045 | 144 | c.96_ others(149): Show |
p.His others(155): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 1/9 | 188/4401 | 97/2565 | 33/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22465785 | C | CAGG | conservative_inframe_insertion | MODERATE | HG00738.hp1 HG01891.hp2 HG03453.hp2 |
a0003a0007 | a0003c0003a0007c0015 | a0003c0003t0003a0003c0003t0004a0007c0015t0009 | a0003c0003t0003g0029 a0003c0003t0004g0033 a0007c0015t0009g0032 |
3 | 224 | 0.0134 | 3 | c.152 others(12): Show |
p.Glu others(6): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1622/4401 | 1531/2565 | 511/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22465850 | G | GGAGAAGG others(362): Show |
conservative_inframe_insertion | MODERATE | HG02040.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0035 | 1 | 224 | 0.0045 | 369 | c.159 others(378): Show |
p.Lys others(382): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1688/4401 | 1597/2565 | 533/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22465961 | G | GCAGGAGG others(116): Show |
conservative_inframe_insertion | MODERATE | HG02040.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0035 | 1 | 224 | 0.0045 | 123 | c.171 others(132): Show |
p.Arg others(136): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1808/4401 | 1717/2565 | 573/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22466085 | G | GAGCAGGA others(77): Show |
conservative_inframe_insertion | MODERATE | HG02040.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0035 | 1 | 224 | 0.0045 | 84 | c.183 others(93): Show |
p.Lys others(97): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1931/4401 | 1840/2565 | 614/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22466394 | T | TGGGAGCA others(140): Show |
conservative_inframe_insertion | MODERATE | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 217 | 0.0046 | 147 | c.228 others(156): Show |
p.Gly others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 2519/4401 | 2428/2565 | 810/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22466606 | G | GGAGCAGG others(179): Show |
conservative_inframe_insertion | MODERATE | NA18978.hp1 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 224 | 0.0089 | 186 | c.235 others(195): Show |
p.Glu others(199): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 2447/4401 | 2356/2565 | 786/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22466625 | C | CGGGAGCA others(14): Show |
conservative_inframe_insertion | MODERATE | HG01891.hp1 HG02970.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0005 | 2 | 224 | 0.0089 | 21 | c.238 others(30): Show |
p.Ile others(34): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 2477/4401 | 2386/2565 | 796/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L24_chr15_28342851_28363084 | 28350820 | T | TCTGCTCC others(14): Show |
conservative_inframe_insertion | MODERATE | NA19086.hp2 | a0019 | a0019c0021 | a0019c0021t0002 | a0019c0021t0002g0048 | 1 | 200 | 0.0050 | 21 | c.190 others(30): Show |
p.Gln others(34): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 8/9 | 1990/4304 | 1929/2499 | 643/832 | chr15 | TogoVar | |||
GOLGA6L24_chr15_28342851_28363084 | 28351221 | T | TCCTCCTG others(152): Show |
conservative_inframe_insertion | MODERATE | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0005 | 1 | 148 | 0.0068 | 159 | c.152 others(168): Show |
p.Glu others(172): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 8/9 | 1589/4304 | 1528/2499 | 510/832 | chr15 | TogoVar | |||
GOLGA6L24_chr15_28342851_28363084 | 28351546 | T | TCTCCTGC others(14): Show |
conservative_inframe_insertion | MODERATE | HG01069.hp2 HG01109.hp2 HG01169.hp1 others(3): Show |
a0005 | a0005c0004 | a0005c0004t0001a0005c0004t0003 | a0005c0004t0001g0007 a0005c0004t0003g0027 |
6 | 200 | 0.0300 | 21 | c.118 others(30): Show |
p.Glu others(34): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 8/9 | 1264/4304 | 1203/2499 | 401/832 | chr15 | TogoVar | |||
GOLGA6L25_chr15_28548568_28568779 | 28560062 | A | AGAGAAGA others(14): Show |
conservative_inframe_insertion | MODERATE | NA18947.hp2 NA19005.hp2 |
a0011 | a0011c0013 | a0011c0013t0002 | a0011c0013t0002g0003 | 2 | 98 | 0.0204 | 21 | c.116 others(30): Show |
p.Glu others(13): Show |
GOLGA6L25 | ENSG00000227717.5 | transcript | ENST00000620691.5 | protein_coding | 8/9 | 1247/4286 | 1186/2481 | 396/826 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L25_chr15_28548568_28568779 | 28560496 | G | GGCAGGAG others(14): Show |
conservative_inframe_insertion | MODERATE | HG03669.hp1 | a0016 | a0016c0021 | a0016c0021t0003 | a0016c0021t0003g0002 | 1 | 98 | 0.0102 | 21 | c.161 others(30): Show |
p.Ile others(13): Show |
GOLGA6L25 | ENSG00000227717.5 | transcript | ENST00000620691.5 | protein_coding | 8/9 | 1694/4286 | 1633/2481 | 545/826 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23327225 | T | TCTC | conservative_inframe_insertion | MODERATE | HG00733.hp2 HG00741.hp2 HG01069.hp1 others(92): Show |
a0001a0008a0014others(10): Show | a0001c0001a0001c0006a0001c0017others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(50): Show |
95 | 182 | 0.5220 | 3 | c.163 others(12): Show |
p.Glu others(6): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1696/3731 | 1635/1950 | 545/649 | chr15 | TogoVar | |||
GOLGA6L26_chr15_23319535_23339196 | 23327474 | T | TCTC | conservative_inframe_insertion | MODERATE | HG00733.hp2 HG00741.hp2 HG01069.hp1 others(92): Show |
a0001a0008a0014others(10): Show | a0001c0001a0001c0006a0001c0017others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(50): Show |
95 | 182 | 0.5220 | 3 | c.138 others(12): Show |
p.Glu others(6): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1447/3731 | 1386/1950 | 462/649 | chr15 | TogoVar | |||
GOLGA6L26_chr15_23319535_23339196 | 23327810 | C | CCTCCTTC others(35): Show |
conservative_inframe_insertion | MODERATE | NA18966.hp1 | a0038 | a0038c0045 | a0038c0045t0003 | a0038c0045t0003g0090 | 1 | 182 | 0.0055 | 42 | c.105 others(51): Show |
p.Glu others(55): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1111/3731 | 1050/1950 | 350/649 | chr15 | TogoVar |