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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTH2_chr19_49417419_49428441 | 49427714 | C | CGAGGGAG others(30): Show |
upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 186 | 0.0054 | 37 | c.-43 others(48): Show |
PTH2 | ENSG00000142538.2 | transcript | ENST00000270631.2 | protein_coding | 4274 | chr19 | TogoVar | |||||||
PTN_chr7_137222341_137348733 | 137280699 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 12 | 0.0833 | 37 | c.-1- others(54): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
PTN_chr7_137222341_137348733 | 137324433 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 62 | 0.0161 | 37 | c.-2+ others(54): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
PTP4A3_chr8_141387021_141437454 | 141437022 | A | ATGGGGAG others(30): Show |
downstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 231 | 0.0043 | 37 | c.*59 others(48): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 4569 | chr8 | TogoVar | |||||||
PTPN1_chr20_50505383_50590241 | 50524569 | C | CTTTTTTT others(30): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0281 | 1 | 108 | 0.0093 | 37 | c.63+ others(54): Show |
PTPN1 | ENSG00000196396.10 | transcript | ENST00000371621.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0346 | 1 | 58 | 0.0172 | 37 | c.859 others(54): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | |||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02273.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 a0001c0001t0001g0357 |
2 | 59 | 0.0339 | 37 | c.859 others(54): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | |||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 a0001c0001t0001g0173 |
2 | 59 | 0.0339 | 37 | c.859 others(54): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | |||||||
PTPN4_chr2_119754922_119989899 | 119973655 | G | GTTTTTTT others(30): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0038 | a0001c0001t0004g0036 a0001c0001t0038g0037 |
2 | 21 | 0.0952 | 37 | c.269 others(56): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTPRA_chr20_2868481_3043669 | 2910408 | G | GTATATTA others(30): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0292 | 1 | 62 | 0.0161 | 37 | c.-12 others(58): Show |
PTPRA | ENSG00000132670.21 | transcript | ENST00000399903.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PTPRD_chr9_8309246_10618002 | 9947387 | A | ATATAATA others(30): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02683.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0022a0001c0002t0009a0001c0003t0007others(2): Show | a0001c0001t0022g0012 a0001c0002t0009g0017 a0001c0003t0007g0029 others(2): Show |
5 | 32 | 0.1563 | 37 | c.-47 others(56): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 4/45 | chr9 | TogoVar | |||||||
PTPRG_chr3_61556571_62302609 | 61803479 | T | TCATGTTG others(30): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02109.hp2 HG02145.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0066 a0001c0001t0002g0035 others(6): Show |
9 | 94 | 0.0957 | 37 | c.190 others(56): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRH_chr19_55176247_55214501 | 55190492 | T | TTTATATA others(30): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02886.hp1 HG03041.hp1 others(2): Show |
a0003a0005a0025 | a0003c0067a0005c0006a0025c0065 | a0003c0067t0004a0005c0006t0001a0025c0065t0001 | a0003c0067t0004g0130 a0005c0006t0001g0085 a0005c0006t0001g0287 others(2): Show |
5 | 242 | 0.0207 | 37 | c.238 others(56): Show |
PTPRH | ENSG00000080031.10 | transcript | ENST00000376350.8 | protein_coding | 12/19 | chr19 | TogoVar | |||||||
PTPRH_chr19_55176247_55214501 | 55208637 | T | TGGGGGTC others(30): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0040 | a0001c0040t0001 | a0001c0040t0001g0158 | 1 | 361 | 0.0028 | 37 | c.51+ others(50): Show |
PTPRH | ENSG00000080031.10 | transcript | ENST00000376350.8 | protein_coding | 1/19 | chr19 | TogoVar | |||||||
PTPRO_chr12_15317508_15603331 | 15549245 | G | GAAATCTG others(30): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02630.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003a0001c0002t0008 | a0001c0001t0003g0030 a0001c0002t0003g0028 a0001c0002t0008g0027 |
3 | 162 | 0.0185 | 37 | c.243 others(52): Show |
PTPRO | ENSG00000151490.15 | transcript | ENST00000281171.9 | protein_coding | 14/26 | chr12 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 42086753 | A | AAATATAT others(30): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0013 | 1 | 50 | 0.0200 | 37 | c.384 others(54): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 27/30 | chr20 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 42184594 | C | CTTCTTCT others(30): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0041 | 1 | 62 | 0.0161 | 37 | c.249 others(58): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 16/30 | chr20 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 31038984 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0073 | 1 | 94 | 0.0106 | 37 | c.364 others(56): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | |||||||
PUM2_chr2_20243737_20355844 | 20274957 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 6 | 0.1667 | 37 | c.195 others(56): Show |
PUM2 | ENSG00000055917.17 | transcript | ENST00000361078.7 | protein_coding | 13/20 | chr2 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105455576 | A | ATATATAT others(30): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0314 | 1 | 6 | 0.1667 | 37 | c.*22 others(48): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 926 | chr7 | TogoVar | |||||||
PVR_chr19_44638910_44671162 | 44645128 | A | AATATATA others(30): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(55): Show |
a0001a0003a0009 | a0001c0001a0003c0003a0009c0009 | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(22): Show | a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0037 others(44): Show |
58 | 273 | 0.2125 | 37 | c.79+ others(50): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PVR_chr19_44638910_44671162 | 44645128 | A | AATATATT others(30): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00673.hp2 NA18944.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0071 others(4): Show |
14 | 229 | 0.0611 | 37 | c.79+ others(50): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PVR_chr19_44638910_44671162 | 44645183 | T | TTATTATT others(30): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01123.hp2 others(56): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0006a0002c0002t0008others(12): Show | a0002c0002t0004g0004 a0002c0002t0004g0007 a0002c0002t0004g0022 others(35): Show |
59 | 405 | 0.1457 | 37 | c.79+ others(52): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PVR_chr19_44638910_44671162 | 44667732 | A | ATATATAT others(30): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0004 | a0001c0004t0026 | a0001c0004t0026g0153 | 1 | 409 | 0.0024 | 37 | c.*59 others(48): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 1571 | chr19 | TogoVar | |||||||
PVR_chr19_44638910_44671162 | 44668554 | T | TTATACAC others(30): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0006 | a0006c0012 | a0006c0012t0029 | a0006c0012t0029g0042 | 1 | 410 | 0.0024 | 37 | c.*67 others(48): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 2393 | chr19 | TogoVar | |||||||
PVR_chr19_44638910_44671162 | 44668559 | T | TACATATT others(30): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01168.hp1 others(10): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0002a0001c0001t0013a0001c0001t0015others(6): Show | a0001c0001t0002g0005 a0001c0001t0013g0164 a0001c0001t0015g0013 others(8): Show |
13 | 366 | 0.0355 | 37 | c.*67 others(48): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 2398 | chr19 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51599773 | T | TCTTATAT others(30): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0013 | a0013c0010 | a0013c0010t0002 | a0013c0010t0002g0108 | 1 | 77 | 0.0130 | 37 | c.237 others(54): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51599787 | T | TATCGTTT others(30): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03130.hp2 HG06807.hp1 |
a0013a0017a0032 | a0013c0010a0017c0017a0032c0034 | a0013c0010t0002a0017c0017t0001a0032c0034t0002 | a0013c0010t0002g0108 a0017c0017t0001g0074 a0032c0034t0002g0122 |
3 | 93 | 0.0323 | 37 | c.237 others(54): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51599791 | G | GTTTAGAT others(30): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0029 | a0029c0047 | a0029c0047t0001 | a0029c0047t0001g0075 | 1 | 119 | 0.0084 | 37 | c.237 others(54): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51599948 | A | ATAAATTA others(30): Show |
intron_variant | MODIFIER | HG01192.hp2 NA19030.hp1 |
a0003a0033 | a0003c0005a0033c0035 | a0003c0005t0003a0033c0035t0003 | a0003c0005t0003g0010 a0033c0035t0003g0011 |
2 | 120 | 0.0167 | 37 | c.237 others(54): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51600181 | T | TATATAAA others(30): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01192.hp2 HG02735.hp2 others(2): Show |
a0003a0005a0013others(2): Show | a0003c0005a0005c0018a0013c0010others(2): Show | a0003c0005t0003a0005c0018t0001a0013c0010t0002others(2): Show | a0003c0005t0003g0010 a0005c0018t0001g0085 a0013c0010t0002g0108 others(2): Show |
5 | 98 | 0.0510 | 37 | c.237 others(54): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51600330 | A | ATATAAAT others(30): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03209.hp1 |
a0017a0029 | a0017c0017a0029c0047 | a0017c0017t0001a0029c0047t0001 | a0017c0017t0001g0074 a0029c0047t0001g0075 |
2 | 69 | 0.0290 | 37 | c.237 others(54): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51600529 | A | ATTTAGAT others(30): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01192.hp2 HG02735.hp2 others(7): Show |
a0001a0003a0005others(4): Show | a0001c0001a0003c0003a0003c0005others(5): Show | a0001c0001t0001a0003c0003t0001a0003c0005t0003others(5): Show | a0001c0001t0001g0019 a0001c0001t0001g0032 a0003c0003t0001g0079 others(7): Show |
10 | 77 | 0.1299 | 37 | c.237 others(54): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
PYM1_chr12_55896413_55932894 | 55905892 | T | TTATATAT others(30): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 335 | 0.0030 | 37 | c.38- others(52): Show |
PYM1 | ENSG00000170473.17 | transcript | ENST00000408946.7 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
QPCT_chr2_37339630_37378322 | 37347170 | T | TATATATA others(30): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 283 | 0.0035 | 37 | c.120 others(54): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
QPCT_chr2_37339630_37378322 | 37347170 | T | TATATATA others(30): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0236 | 1 | 283 | 0.0035 | 37 | c.120 others(54): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
QRICH1_chr3_49024707_49099071 | 49050248 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 59 | 0.0169 | 37 | c.133 others(56): Show |
QRICH1 | ENSG00000198218.12 | transcript | ENST00000395443.7 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
QRICH2_chr17_76269049_76313276 | 76310740 | G | GATTATAG others(30): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0227 | 1 | 362 | 0.0028 | 37 | c.-27 others(48): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 2465 | chr17 | TogoVar | |||||||
R3HDM2_chr12_57248764_57436043 | 57260263 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0289 | 1 | 12 | 0.0833 | 37 | c.213 others(56): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 19/23 | chr12 | TogoVar | |||||||
R3HDM4_chr19_891503_918219 | 891879 | G | GGGGGCTG others(30): Show |
downstream_gene_variant | MODIFIER | NA18970.hp1 NA19091.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0031 | 2 | 430 | 0.0047 | 37 | c.*55 others(48): Show |
R3HDM4 | ENSG00000198858.10 | transcript | ENST00000361574.10 | protein_coding | 4623 | chr19 | TogoVar | |||||||
RAB11FIP4_chr17_31386675_31543211 | 31505622 | T | TATAATAA others(30): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0035 | 1 | 63 | 0.0159 | 37 | c.337 others(56): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB15_chr14_64940816_64977336 | 64973893 | C | CAAAAAAA others(30): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 HG01515.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0189 a0001c0001t0006g0253 |
2 | 134 | 0.0149 | 37 | c.-18 others(48): Show |
RAB15 | ENSG00000139998.16 | transcript | ENST00000533601.7 | protein_coding | 1558 | chr14 | TogoVar | |||||||
RAB18_chr10_27499304_27547239 | 27546498 | A | ATTTTTTT others(30): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03209.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0008 | a0001c0001t0004g0055 a0002c0002t0008g0015 a0002c0002t0008g0089 |
3 | 11 | 0.2727 | 37 | c.*84 others(48): Show |
RAB18 | ENSG00000099246.18 | transcript | ENST00000356940.11 | protein_coding | 4260 | chr10 | TogoVar | |||||||
RAB1A_chr2_65081854_65135106 | 65103299 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0077 |
2 | 279 | 0.0072 | 37 | c.96+ others(52): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58596825 | T | TACATATA others(30): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0134 | 1 | 218 | 0.0046 | 37 | c.24+ others(54): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB5B_chr12_55969078_56001683 | 55996003 | A | ATATATAT others(30): Show |
3_prime_UTR_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0010 | 1 | 188 | 0.0053 | 37 | c.*37 others(48): Show |
RAB5B | ENSG00000111540.16 | transcript | ENST00000360299.10 | protein_coding | 6/6 | 3793 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RAB5B_chr12_55969078_56001683 | 55996003 | A | ATATATAT others(30): Show |
3_prime_UTR_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0010 | 1 | 188 | 0.0053 | 37 | c.*37 others(48): Show |
RAB5B | ENSG00000111540.16 | transcript | ENST00000360299.10 | protein_coding | 6/6 | 3793 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RAB6A_chr11_73670638_73766074 | 73739278 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 332 | 0.0030 | 37 | c.71- others(52): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73739282 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 253 | 0.0040 | 37 | c.71- others(52): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73739284 | A | AAAAAAAT others(30): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 55 | 0.0182 | 37 | c.71- others(52): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar |