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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GOLGA6L22_chr15_22453903_22474226 | 22465939 | AGCAGGAG others(14): Show |
A | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(48): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0005others(1): Show | a0001c0001t0001a0001c0007t0001a0003c0005t0004others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0017 others(7): Show |
51 | 224 | 0.2277 | -21 | c.168 others(30): Show |
p.Asp others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1780/4401 | 1689/2565 | 563/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22466082 | AGGGAGCA others(14): Show |
A | disruptive_inframe_deletion | MODERATE | HG02155.hp2 HG02886.hp1 HG02886.hp2 others(1): Show |
a0004a0005 | a0004c0004a0005c0006 | a0004c0004t0003a0005c0006t0003a0005c0006t0004 | a0004c0004t0003g0034 a0005c0006t0003g0031 a0005c0006t0003g0037 others(1): Show |
4 | 223 | 0.0179 | -21 | c.186 others(30): Show |
p.Glu others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1957/4401 | 1866/2565 | 622/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22466105 | GGAGCAGG others(35): Show |
G | disruptive_inframe_deletion | MODERATE | HG00738.hp1 | a0007 | a0007c0015 | a0007c0015t0009 | a0007c0015t0009g0032 | 1 | 224 | 0.0045 | -42 | c.185 others(51): Show |
p.Lys others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1950/4401 | 1859/2565 | 620/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22466124 | CGGGAGCA others(179): Show |
C | disruptive_inframe_deletion | MODERATE | NA18973.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 223 | 0.0045 | -186 | c.193 others(9): Show |
p.Glu others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 2029/4401 | 1938/2565 | 646/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22466124 | CGGGAGCA others(242): Show |
C | disruptive_inframe_deletion | MODERATE | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 223 | 0.0045 | -249 | c.188 others(9): Show |
p.Arg others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1975/4401 | 1884/2565 | 628/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22466133 | GAGGAGAA others(137): Show |
G | disruptive_inframe_deletion | MODERATE | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 224 | 0.0045 | -144 | c.190 others(9): Show |
p.Met others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1992/4401 | 1901/2565 | 634/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22466541 | GGGGAGCA others(140): Show |
G | disruptive_inframe_deletion | MODERATE | HG00673.hp2 HG02027.hp1 HG02040.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0016 others(1): Show |
12 | 224 | 0.0536 | -147 | c.229 others(9): Show |
p.Glu others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 2383/4401 | 2292/2565 | 764/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22466543 | GGAGCAGG others(161): Show |
G | disruptive_inframe_deletion | MODERATE | HG02132.hp1 NA18942.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0001 a0002c0002t0002g0001 |
2 | 224 | 0.0089 | -168 | c.234 others(9): Show |
p.Ile others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 2434/4401 | 2343/2565 | 781/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22466616 | AAGAAGAT others(14): Show |
A | disruptive_inframe_deletion | MODERATE | HG02886.hp1 HG03453.hp2 |
a0003a0005 | a0003c0003a0005c0006 | a0003c0003t0004a0005c0006t0004 | a0003c0003t0004g0033 a0005c0006t0004g0030 |
2 | 222 | 0.0090 | -21 | c.236 others(30): Show |
p.Glu others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 2458/4401 | 2367/2565 | 789/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L24_chr15_28342851_28363084 | 28350524 | TTCCTGCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | NA18950.hp2 NA18954.hp2 |
a0012a0013 | a0012c0026a0013c0027 | a0012c0026t0007a0013c0027t0007 | a0012c0026t0007g0082 a0013c0027t0007g0083 |
2 | 200 | 0.0100 | -21 | c.220 others(30): Show |
p.Gly others(13): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 8/9 | 2286/4304 | 2205/2499 | 735/832 | chr15 | TogoVar | |||
GOLGA6L24_chr15_28342851_28363084 | 28350975 | ATCTTCTC others(11): Show |
A | disruptive_inframe_deletion | MODERATE | NA18950.hp2 NA18954.hp2 NA19001.hp2 |
a0012a0013a0016 | a0012c0026a0013c0027a0016c0028 | a0012c0026t0007a0013c0027t0007a0016c0028t0009 | a0012c0026t0007g0082 a0013c0027t0007g0083 a0016c0028t0009g0084 |
3 | 200 | 0.0150 | -18 | c.175 others(27): Show |
p.Thr others(13): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 8/9 | 1835/4304 | 1757/2499 | 586/832 | chr15 | TogoVar | |||
GOLGA6L24_chr15_28342851_28363084 | 28357919 | AGGATGGG others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(108): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0008a0001c0009others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0021 others(49): Show |
111 | 131 | 0.8473 | -18 | c.87_ others(24): Show |
p.His others(11): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 1/9 | 165/4304 | 87/2499 | 29/832 | chr15 | TogoVar | |||
GOLGA6L25_chr15_28548568_28568779 | 28553640 | ACCCCACC others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG03239.hp1 | a0015 | a0015c0014 | a0015c0014t0001 | a0015c0014t0001g0011 | 1 | 88 | 0.0114 | -18 | c.69_ others(23): Show |
p.His others(11): Show |
GOLGA6L25 | ENSG00000227717.5 | transcript | ENST00000620691.5 | protein_coding | 1/9 | 130/4286 | 69/2481 | 23/826 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23327098 | ATCTCCTC others(35): Show |
A | disruptive_inframe_deletion | MODERATE | HG00741.hp1 HG01515.hp1 HG02735.hp1 others(6): Show |
a0003a0005a0006others(2): Show | a0003c0003a0005c0005a0006c0007others(2): Show | a0003c0003t0001a0003c0003t0002a0005c0005t0002others(3): Show | a0003c0003t0001g0046 a0003c0003t0002g0012 a0003c0003t0002g0047 others(5): Show |
9 | 182 | 0.0495 | -42 | c.172 others(51): Show |
p.Lys others(13): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1823/3731 | 1721/1950 | 574/649 | chr15 | TogoVar | |||
GOLGA6L26_chr15_23319535_23339196 | 23327133 | CCATATCT others(14): Show |
C | disruptive_inframe_deletion | MODERATE | HG01517.hp1 | a0010 | a0010c0034 | a0010c0034t0002 | a0010c0034t0002g0045 | 1 | 182 | 0.0055 | -21 | c.170 others(30): Show |
p.Glu others(13): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1788/3731 | 1707/1950 | 569/649 | chr15 | TogoVar | |||
GOLGA6L26_chr15_23319535_23339196 | 23327298 | TCGTATCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG01109.hp1 HG01169.hp2 others(34): Show |
a0004a0007a0009others(14): Show | a0004c0004a0004c0042a0007c0009others(20): Show | a0004c0004t0005a0004c0042t0005a0007c0009t0002others(23): Show | a0004c0004t0005g0008 a0004c0004t0005g0015 a0004c0004t0005g0065 others(29): Show |
37 | 87 | 0.4253 | -21 | c.154 others(30): Show |
p.Glu others(13): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1623/3731 | 1542/1950 | 514/649 | chr15 | TogoVar | |||
GOLGA6L26_chr15_23319535_23339196 | 23327836 | AGCCTCCG others(35): Show |
A | disruptive_inframe_deletion | MODERATE | NA19081.hp1 | a0042 | a0042c0050 | a0042c0050t0002 | a0042c0050t0002g0069 | 1 | 76 | 0.0132 | -42 | c.983 others(50): Show |
p.Gln others(13): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1085/3731 | 983/1950 | 328/649 | chr15 | TogoVar | |||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | AGGATGGG others(11): Show |
A | disruptive_inframe_deletion | MODERATE | NA18950.hp1 NA19004.hp1 |
a0020 | a0020c0020 | a0020c0020t0001 | a0020c0020t0001g0022 | 2 | 126 | 0.0159 | -18 | c.51_ others(23): Show |
p.His others(11): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 51/1950 | 17/649 | chr15 | TogoVar | |||
GOLGA6L2_chr15_23434038_23452243 | 23439857 | GCATCTCC others(11): Show |
G | disruptive_inframe_deletion | MODERATE | NA18939.hp1 | a0001 | a0001c0048 | a0001c0048t0001 | a0001c0048t0001g0070 | 1 | 8 | 0.1250 | -18 | c.260 others(27): Show |
p.Val others(13): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2679/3499 | 2600/2730 | 867/909 | chr15 | TogoVar | |||
GOLGA6L2_chr15_23434038_23452243 | 23439898 | ATCT | A | disruptive_inframe_deletion | MODERATE | HG02145.hp1 HG02818.hp1 HG02965.hp2 |
a0010 | a0010c0016 | a0010c0016t0002 | a0010c0016t0002g0026 | 3 | 394 | 0.0076 | -3 | c.257 others(12): Show |
p.Glu others(6): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2638/3499 | 2574/2730 | 858/909 | chr15 | TogoVar | |||
GOLGA6L2_chr15_23434038_23452243 | 23440163 | GCTCCTGC others(26): Show |
G | disruptive_inframe_deletion | MODERATE | HG03579.hp1 | a0025 | a0025c0030 | a0025c0030t0002 | a0025c0030t0002g0111 | 1 | 393 | 0.0025 | -33 | c.227 others(42): Show |
p.Glu others(13): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2373/3499 | 2279/2730 | 760/909 | chr15 | TogoVar | |||
GOLGA6L4_chr15_84230773_84250358 | 84240457 | AGGAGAGG others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG03927.hp1 | a0035 | a0035c0059 | a0035c0059t0001 | a0035c0059t0001g0069 | 1 | 250 | 0.0040 | -18 | c.111 others(27): Show |
p.Arg others(13): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 1181/4553 | 1119/1725 | 373/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240569 | CGAGGTGG others(14): Show |
C | disruptive_inframe_deletion | MODERATE | HG03927.hp1 | a0035 | a0035c0059 | a0035c0059t0001 | a0035c0059t0001g0069 | 1 | 250 | 0.0040 | -21 | c.123 others(30): Show |
p.Asp others(13): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 1298/4553 | 1236/1725 | 412/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240659 | TCTGCAGG others(11): Show |
T | disruptive_inframe_deletion | MODERATE | HG03927.hp1 | a0035 | a0035c0059 | a0035c0059t0001 | a0035c0059t0001g0069 | 1 | 250 | 0.0040 | -18 | c.131 others(27): Show |
p.Gln others(13): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 1372/4553 | 1310/1725 | 437/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L6_chr15_20526856_20546800 | 20534338 | TTCTCCTC others(161): Show |
T | disruptive_inframe_deletion | MODERATE | HG01071.hp2 HG01255.hp1 HG01257.hp2 others(7): Show |
a0010a0011a0019 | a0010c0014a0010c0015a0011c0012others(2): Show | a0010c0014t0007a0010c0015t0009a0011c0012t0007others(2): Show | a0010c0014t0007g0013 a0010c0015t0009g0037 a0010c0015t0009g0038 others(3): Show |
10 | 212 | 0.0472 | -168 | c.192 others(9): Show |
p.Thr others(13): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 2186/4013 | 1928/2175 | 643/724 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20534590 | ATCTCCTC others(14): Show |
A | disruptive_inframe_deletion | MODERATE | HG02486.hp2 | a0023 | a0023c0046 | a0023c0046t0002 | a0023c0046t0002g0099 | 1 | 211 | 0.0047 | -21 | c.182 others(30): Show |
p.Lys others(13): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1934/4013 | 1823/2175 | 608/724 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20534590 | ATCTCCTC others(35): Show |
A | disruptive_inframe_deletion | MODERATE | HG01884.hp2 | a0021 | a0021c0045 | a0021c0045t0002 | a0021c0045t0002g0096 | 1 | 211 | 0.0047 | -42 | c.180 others(51): Show |
p.Lys others(13): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1934/4013 | 1802/2175 | 601/724 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20534604 | TCGTATCT others(35): Show |
T | disruptive_inframe_deletion | MODERATE | HG01070.hp1 HG01256.hp2 HG01346.hp1 others(11): Show |
a0001a0007a0020others(1): Show | a0001c0001a0007c0006a0020c0035others(1): Show | a0001c0001t0004a0001c0001t0017a0007c0006t0004others(2): Show | a0001c0001t0004g0006 a0001c0001t0004g0086 a0001c0001t0017g0087 others(4): Show |
14 | 212 | 0.0660 | -42 | c.178 others(51): Show |
p.Glu others(13): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1920/4013 | 1788/2175 | 596/724 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20534800 | TTATCCTC others(68): Show |
T | disruptive_inframe_deletion | MODERATE | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(6): Show |
a0006 | a0006c0005a0006c0019 | a0006c0005t0006a0006c0019t0006 | a0006c0005t0006g0009 a0006c0005t0006g0017 a0006c0005t0006g0030 others(1): Show |
9 | 212 | 0.0425 | -75 | c.155 others(84): Show |
p.Met others(13): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1724/4013 | 1559/2175 | 520/724 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20535333 | TATCTTCT others(35): Show |
T | disruptive_inframe_deletion | MODERATE | HG01346.hp2 HG02129.hp2 NA18968.hp1 |
a0012 | a0012c0013 | a0012c0013t0008 | a0012c0013t0008g0024 a0012c0013t0008g0050 |
3 | 103 | 0.0291 | -42 | c.105 others(51): Show |
p.Met others(13): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1191/4013 | 1059/2175 | 353/724 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20541599 | AGGATGGG others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG00558.hp2 HG00733.hp1 HG00735.hp1 others(34): Show |
a0004a0006a0007others(3): Show | a0004c0004a0004c0049a0006c0005others(6): Show | a0004c0004t0003a0004c0049t0003a0006c0005t0006others(8): Show | a0004c0004t0003g0005 a0004c0004t0003g0028 a0004c0004t0003g0106 others(19): Show |
37 | 159 | 0.2327 | -18 | c.93_ others(24): Show |
p.His others(11): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 1/9 | 201/4013 | 93/2175 | 31/724 | chr15 | TogoVar | |||
GOLGA6L7_chr15_28836832_28853644 | 28842910 | TCGCATCT others(56): Show |
T | disruptive_inframe_deletion | MODERATE | HG00408.hp2 HG00673.hp1 HG00741.hp2 others(74): Show |
a0003a0005a0006others(3): Show | a0003c0003a0003c0019a0003c0027others(8): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0005others(17): Show | a0003c0003t0001g0050 a0003c0003t0002g0002 a0003c0003t0002g0021 others(30): Show |
77 | 387 | 0.1990 | -63 | c.113 others(72): Show |
p.Lys others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1288/2367 | 1131/1869 | 377/622 | chr15 | TogoVar | |||
GOLGA6L9_chr15_82424816_82444153 | 82434225 | CGTGAACA others(14): Show |
C | disruptive_inframe_deletion | MODERATE | HG01496.hp2 | a0021 | a0021c0031 | a0021c0031t0001 | a0021c0031t0001g0002 | 1 | 454 | 0.0022 | -21 | c.666 others(28): Show |
p.Cys others(13): Show |
GOLGA6L9 | ENSG00000197978.10 | transcript | ENST00000618348.2 | protein_coding | 6/9 | 930/4305 | 666/1299 | 222/432 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA8F_chr15_28373664_28397021 | 28385289 | GAGGAGAG others(14): Show |
G | disruptive_inframe_deletion | MODERATE | HG00741.hp1 HG01361.hp1 HG01361.hp2 others(10): Show |
a0004 | a0004c0005a0004c0032a0004c0033others(1): Show | a0004c0005t0001a0004c0005t0002a0004c0005t0005others(6): Show | a0004c0005t0001g0027 a0004c0005t0002g0027 a0004c0005t0005g0005 others(9): Show |
13 | 269 | 0.0483 | -21 | c.105 others(30): Show |
p.Gln others(13): Show |
GOLGA8F | ENSG00000153684.16 | transcript | ENST00000526619.7 | protein_coding | 12/19 | 1153/4967 | 1055/1911 | 352/636 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA8G_chr15_28514611_28537971 | 28526313 | GGAAGCCT others(14): Show |
G | disruptive_inframe_deletion | MODERATE | HG02109.hp2 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0026 | 1 | 100 | 0.0100 | -21 | c.109 others(30): Show |
p.Gln others(13): Show |
GOLGA8G | ENSG00000183629.14 | transcript | ENST00000525590.3 | protein_coding | 12/19 | 1173/4971 | 1091/1947 | 364/648 | chr15 | TogoVar | |||
GOLGA8J_chr15_30077955_30101690 | 30092757 | TGAA | T | disruptive_inframe_deletion | MODERATE | HG01243.hp2 HG01261.hp1 HG03239.hp2 others(1): Show |
a0016a0037a0049 | a0016c0021a0037c0028a0049c0053 | a0016c0021t0018a0037c0028t0019a0049c0053t0019 | a0016c0021t0018g0166 a0016c0021t0018g0167 a0037c0028t0019g0079 others(1): Show |
4 | 344 | 0.0116 | -3 | c.142 others(12): Show |
p.Lys others(6): Show |
GOLGA8J | ENSG00000179938.13 | transcript | ENST00000567927.2 | protein_coding | 16/19 | 1520/5188 | 1422/1899 | 474/632 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA8N_chr15_32588456_32612237 | 32602524 | CGGA | C | disruptive_inframe_deletion | MODERATE | HG01070.hp1 HG01071.hp1 HG02145.hp1 others(7): Show |
a0008a0042a0043 | a0008c0008a0042c0041a0043c0059 | a0008c0008t0001a0008c0008t0012a0008c0008t0024others(3): Show | a0008c0008t0001g0005 a0008c0008t0012g0005 a0008c0008t0024g0005 others(3): Show |
10 | 286 | 0.0350 | -3 | c.128 others(12): Show |
p.Gly others(6): Show |
GOLGA8N | ENSG00000232653.9 | transcript | ENST00000448387.7 | protein_coding | 15/19 | 1384/5256 | 1286/1899 | 429/632 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA8O_chr15_32436914_32460634 | 32446553 | TCTC | T | disruptive_inframe_deletion | MODERATE | HG00544.hp1 HG00639.hp2 HG01361.hp1 others(10): Show |
a0004 | a0004c0007a0004c0014a0004c0017others(2): Show | a0004c0007t0001a0004c0007t0027a0004c0007t0052others(4): Show | a0004c0007t0001g0112 a0004c0007t0001g0118 a0004c0007t0001g0120 others(9): Show |
13 | 214 | 0.0607 | -3 | c.128 others(12): Show |
p.Gly others(6): Show |
GOLGA8O | ENSG00000206127.11 | transcript | ENST00000509311.7 | protein_coding | 15/19 | 1386/5189 | 1286/1899 | 429/632 | chr15 | TogoVar | |||
GOLGA8T_chr15_30130051_30153748 | 30144117 | CGGA | C | disruptive_inframe_deletion | MODERATE | HG02572.hp1 HG02622.hp2 HG03017.hp1 others(2): Show |
a0018a0019a0034 | a0018c0039a0018c0046a0019c0015others(1): Show | a0018c0039t0013a0018c0046t0013a0019c0015t0001others(1): Show | a0018c0039t0013g0149 a0018c0046t0013g0148 a0019c0015t0001g0103 others(2): Show |
5 | 290 | 0.0172 | -3 | c.128 others(12): Show |
p.Gly others(6): Show |
GOLGA8T | ENSG00000261247.2 | transcript | ENST00000569052.2 | protein_coding | 15/19 | 1384/5175 | 1286/1896 | 429/631 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGB1_chr3_121658201_121754741 | 121677324 | GGAA | G | disruptive_inframe_deletion | MODERATE | HG01433.hp1 HG02257.hp2 HG02717.hp1 others(3): Show |
a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0057 a0006c0010t0001g0058 a0006c0010t0001g0059 others(3): Show |
6 | 368 | 0.0163 | -3 | c.899 others(12): Show |
p.Ser others(7): Show |
GOLGB1 | ENSG00000173230.17 | transcript | ENST00000614479.5 | protein_coding | 16/22 | 9111/11186 | 8997/9795 | 2999/3264 | chr3 | TogoVar | |||
GOLM2_chr15_44283719_44420758 | 44332050 | TAGC | T | disruptive_inframe_deletion | MODERATE | NA18960.hp1 NA19063.hp2 |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0128 a0003c0004t0002g0129 |
2 | 148 | 0.0135 | -3 | c.551 others(10): Show |
p.Ala others(6): Show |
GOLM2 | ENSG00000166734.20 | transcript | ENST00000299957.11 | protein_coding | 4/10 | 862/3974 | 551/1311 | 184/436 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOPC_chr6_117555269_117607511 | 117563254 | TTAA | T | disruptive_inframe_deletion | MODERATE | HG01891.hp2 HG02145.hp2 HG02896.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0009 a0002c0002t0008g0170 a0002c0002t0008g0186 |
7 | 380 | 0.0184 | -3 | c.138 others(12): Show |
p.Tyr others(6): Show |
GOPC | ENSG00000047932.14 | transcript | ENST00000368498.7 | protein_coding | 9/9 | 1611/4597 | 1386/1389 | 462/462 | chr6 | TogoVar | |||
GP1BA_chr17_4927277_4940023 | 4933822 | AAGCCCGA others(32): Show |
A | disruptive_inframe_deletion | MODERATE | HG06807.hp1 | a0011 | a0011c0022 | a0011c0022t0002 | a0011c0022t0002g0001 | 1 | 344 | 0.0029 | -39 | c.123 others(48): Show |
p.Glu others(13): Show |
GP1BA | ENSG00000185245.9 | transcript | ENST00000329125.6 | protein_coding | 2/2 | 1328/2514 | 1233/1959 | 411/652 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
GP1BA_chr17_4927277_4940023 | 4933822 | AAGCCCGA others(110): Show |
A | disruptive_inframe_deletion | MODERATE | HG01168.hp2 HG01169.hp2 |
a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0001 | 2 | 345 | 0.0058 | -117 | c.123 others(9): Show |
p.Glu others(13): Show |
GP1BA | ENSG00000185245.9 | transcript | ENST00000329125.6 | protein_coding | 2/2 | 1328/2514 | 1233/1959 | 411/652 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
GP1BA_chr17_4927277_4940023 | 4933876 | GGAGCCCA others(32): Show |
G | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(262): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0001 others(9): Show |
265 | 422 | 0.6280 | -39 | c.131 others(48): Show |
p.Glu others(13): Show |
GP1BA | ENSG00000185245.9 | transcript | ENST00000329125.6 | protein_coding | 2/2 | 1406/2514 | 1311/1959 | 437/652 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
GPR137C_chr14_52547836_52642713 | 52553246 | CGCTGCAG others(14): Show |
C | disruptive_inframe_deletion | MODERATE | HG02257.hp1 | a0007 | a0007c0011 | a0007c0011t0002 | a0007c0011t0002g0167 | 1 | 344 | 0.0029 | -21 | c.101 others(28): Show |
p.Ala others(11): Show |
GPR137C | ENSG00000180998.12 | transcript | ENST00000321662.11 | protein_coding | 1/7 | 413/4200 | 101/1290 | 34/429 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
GPR146_chr7_1039546_1064261 | 1058284 | ACGGTCAT others(8): Show |
A | disruptive_inframe_deletion | MODERATE | HG00735.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0236 | 1 | 432 | 0.0023 | -15 | c.770 others(22): Show |
p.Thr others(13): Show |
GPR146 | ENSG00000164849.10 | transcript | ENST00000444847.2 | protein_coding | 2/2 | 907/1883 | 770/1002 | 257/333 | chr7 | TogoVar | |||
GPR153_chr1_6242353_6266098 | 6249732 | GGCGAGTC others(41): Show |
G | disruptive_inframe_deletion | MODERATE | NA18946.hp2 NA18995.hp1 NA19058.hp1 |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0041 a0006c0008t0001g0132 |
3 | 372 | 0.0081 | -48 | c.138 others(57): Show |
p.Leu others(13): Show |
GPR153 | ENSG00000158292.7 | transcript | ENST00000377893.3 | protein_coding | 6/6 | 1818/4198 | 1388/1830 | 463/609 | chr1 | TogoVar | |||
GPR50_chrX_151171584_151186465 | 151181085 | CCACCACT others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
a0002a0004a0006others(1): Show | a0002c0002a0002c0005a0002c0008others(4): Show | a0002c0002t0001a0002c0005t0001a0002c0008t0001others(4): Show | a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 others(58): Show |
132 | 354 | 0.3729 | -12 | c.150 others(21): Show |
p.Thr others(13): Show |
GPR50 | ENSG00000102195.10 | transcript | ENST00000218316.4 | protein_coding | 2/2 | 1643/2020 | 1505/1854 | 502/617 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
GPRC5B_chr16_19851691_19889848 | 19861912 | CCCCAAGC others(17): Show |
C | disruptive_inframe_deletion | MODERATE | HG01255.hp2 | a0003 | a0003c0011 | a0003c0011t0026 | a0003c0011t0026g0255 | 1 | 406 | 0.0025 | -24 | c.106 others(33): Show |
p.Lys others(13): Show |
GPRC5B | ENSG00000167191.12 | transcript | ENST00000300571.7 | protein_coding | 3/4 | 1214/5144 | 1068/1212 | 356/403 | chr16 | TogoVar |