regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR9Q1_chr11_58018881_58186616 | 58037687 | ATATTTTT others(6): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 324 | 0.0031 | -13 | c.-93 others(32): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OR9Q1_chr11_58018881_58186616 | 58037689 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG03130.hp1 HG03139.hp2 NA18953.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0011 | a0001c0001t0002g0011a0001c0001t0002g0016a0001c0001t0008g0066others(1): Show | 4 | 324 | 0.0124 | -13 | c.-93 others(32): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OR9Q1_chr11_58018881_58186616 | 58130573 | CTTGAGGC others(6): Show |
C | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 324 | 0.0031 | -13 | c.-14 others(32): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OR9Q1_chr11_58018881_58186616 | 58142025 | TTGTGGCC others(6): Show |
T | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 324 | 0.0031 | -13 | c.-14 others(32): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ORAI2_chr7_102428575_102461825 | 102443122 | CTTCTTCT others(6): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02615.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0001t0113a0001c0002t0009others(1): Show | a0001c0001t0017g0256a0001c0001t0113g0245a0001c0002t0009g0049others(6): Show | 11 | 404 | 0.0272 | -13 | c.226 others(30): Show |
ORAI2 | ENSG00000160991.17 | transcript | ENST00000495936.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ORC2_chr2_200903977_200968660 | 200913666 | TACTTGGC others(6): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0103 | 2 | 150 | 0.0133 | -13 | c.152 others(30): Show |
ORC2 | ENSG00000115942.9 | transcript | ENST00000234296.7 | protein_coding | 16/17 | chr2 | TogoVar | ||||||
ORC2_chr2_200903977_200968660 | 200915003 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0063a0001c0001t0003g0064 | 2 | 150 | 0.0133 | -13 | c.146 others(32): Show |
ORC2 | ENSG00000115942.9 | transcript | ENST00000234296.7 | protein_coding | 15/17 | chr2 | TogoVar | ||||||
ORC3_chr6_87585135_87672451 | 87644079 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02109.hp2 NA19043.hp2 NA20300.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0340a0001c0002t0001g0341a0001c0002t0001g0342 | 3 | 378 | 0.0079 | -13 | c.138 others(32): Show |
ORC3 | ENSG00000135336.16 | transcript | ENST00000392844.8 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ORC4_chr2_147925396_148025737 | 148005656 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0061 | 1 | 336 | 0.0030 | -13 | c.-18 others(32): Show |
ORC4 | ENSG00000115947.14 | transcript | ENST00000392857.10 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
ORC6_chr16_46684659_46703394 | 46702078 | TAAGTTAA others(6): Show |
T | downstream_gene_variant | MODIFIER | NA18963.hp1 NA18968.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0090 | 3 | 368 | 0.0082 | -13 | c.*44 others(24): Show |
ORC6 | ENSG00000091651.9 | transcript | ENST00000219097.7 | protein_coding | 3685 | chr16 | TogoVar | ||||||
OSBP2_chr22_30689874_30912813 | 30713566 | TCCTCCCA others(6): Show |
T | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0130 | 1 | 268 | 0.0037 | -13 | c.644 others(32): Show |
OSBP2 | ENSG00000184792.16 | transcript | ENST00000332585.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
OSBP2_chr22_30689874_30912813 | 30858130 | TGTTTGTT others(6): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00621.hp1 others(71): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(17): Show | a0001c0001t0001g0067a0001c0001t0001g0068a0001c0001t0001g0073others(71): Show | 74 | 268 | 0.2761 | -13 | c.854 others(32): Show |
OSBP2 | ENSG00000184792.16 | transcript | ENST00000332585.11 | protein_coding | 2/13 | chr22 | TogoVar | ||||||
OSBP2_chr22_30689874_30912813 | 30865631 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0011 | 1 | 268 | 0.0037 | -13 | c.854 others(30): Show |
OSBP2 | ENSG00000184792.16 | transcript | ENST00000332585.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
OSBP2_chr22_30689874_30912813 | 30902127 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG01358.hp2 HG01884.hp2 HG01891.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(3): Show | a0001c0001t0001g0161a0001c0004t0001g0043a0001c0007t0001g0241others(9): Show | 12 | 268 | 0.0448 | -13 | c.237 others(32): Show |
OSBP2 | ENSG00000184792.16 | transcript | ENST00000332585.11 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
OSBPL10_chr3_31655825_31986262 | 31769457 | AACAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02622.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0083a0001c0001t0001g0092a0001c0001t0001g0098others(2): Show | 5 | 186 | 0.0269 | -13 | c.730 others(32): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 4/11 | chr3 | TogoVar | ||||||
OSBPL10_chr3_31655825_31986262 | 31783788 | TTAAAAAA others(6): Show |
T | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 186 | 0.0054 | -13 | c.730 others(32): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 4/11 | chr3 | TogoVar | ||||||
OSBPL10_chr3_31655825_31986262 | 31898006 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG01123.hp1 others(35): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0053others(35): Show | 38 | 186 | 0.2043 | -13 | c.282 others(32): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 1/11 | chr3 | TogoVar | ||||||
OSBPL10_chr3_31655825_31986262 | 31965763 | AAGATAAT others(6): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG02717.hp2 HG03098.hp1 |
a0001 | a0001c0001a0001c0006a0001c0026 | a0001c0001t0001a0001c0006t0002a0001c0026t0002 | a0001c0001t0001g0079a0001c0006t0002g0081a0001c0026t0002g0150 | 3 | 186 | 0.0161 | -13 | c.281 others(32): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 1/11 | chr3 | TogoVar | ||||||
OSBPL11_chr3_125523858_125600497 | 125543280 | TGCCACCA others(6): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151a0001c0001t0001g0185 | 2 | 340 | 0.0059 | -13 | c.184 others(32): Show |
OSBPL11 | ENSG00000144909.8 | transcript | ENST00000296220.6 | protein_coding | 10/12 | chr3 | TogoVar | ||||||
OSBPL11_chr3_125523858_125600497 | 125583581 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0270 | 1 | 340 | 0.0029 | -13 | c.165 others(28): Show |
OSBPL11 | ENSG00000144909.8 | transcript | ENST00000296220.6 | protein_coding | 1/12 | chr3 | TogoVar | ||||||
OSBPL1A_chr18_24157052_24402824 | 24361996 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 206 | 0.0049 | -13 | c.282 others(30): Show |
OSBPL1A | ENSG00000141447.19 | transcript | ENST00000319481.8 | protein_coding | 4/27 | chr18 | TogoVar | ||||||
OSBPL1A_chr18_24157052_24402824 | 24362007 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00639.hp1 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0009a0001c0001t0001g0033a0001c0001t0001g0045others(44): Show | 47 | 206 | 0.2282 | -13 | c.282 others(30): Show |
OSBPL1A | ENSG00000141447.19 | transcript | ENST00000319481.8 | protein_coding | 4/27 | chr18 | TogoVar | ||||||
OSBPL3_chr7_24791540_24985178 | 24828609 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01099.hp2 others(32): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0009a0001c0004t0001 | a0001c0001t0001g0013a0001c0001t0001g0017a0001c0001t0001g0055others(32): Show | 35 | 326 | 0.1074 | -13 | c.188 others(32): Show |
OSBPL3 | ENSG00000070882.13 | transcript | ENST00000313367.7 | protein_coding | 16/22 | chr7 | TogoVar | ||||||
OSBPL6_chr2_178189512_178407893 | 178265191 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01358.hp1 HG02738.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0129a0001c0001t0003g0131a0001c0001t0004g0104others(2): Show | 5 | 200 | 0.0250 | -13 | c.-35 others(34): Show |
OSBPL6 | ENSG00000079156.17 | transcript | ENST00000190611.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
OSBPL6_chr2_178189512_178407893 | 178395772 | TAAAAAAA others(6): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01361.hp1 HG02647.hp1 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0032a0002c0003t0053 | a0001c0001t0032g0185a0001c0001t0032g0186a0002c0003t0053g0161 | 3 | 200 | 0.0150 | -13 | c.*22 others(22): Show |
OSBPL6 | ENSG00000079156.17 | transcript | ENST00000190611.9 | protein_coding | 25/25 | 229 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
OSBPL8_chr12_76346797_76564771 | 76388949 | AGTGGCAC others(6): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 238 | 0.0042 | -13 | c.135 others(30): Show |
OSBPL8 | ENSG00000091039.17 | transcript | ENST00000261183.8 | protein_coding | 12/23 | chr12 | TogoVar | ||||||
OSBPL8_chr12_76346797_76564771 | 76526635 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0017 | a0001c0001t0003g0009a0001c0001t0003g0010a0001c0001t0003g0012others(35): Show | 38 | 238 | 0.1597 | -13 | c.-68 others(32): Show |
OSBPL8 | ENSG00000091039.17 | transcript | ENST00000261183.8 | protein_coding | 1/23 | chr12 | TogoVar | ||||||
OSBPL8_chr12_76346797_76564771 | 76549922 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0049 | 1 | 238 | 0.0042 | -13 | c.-68 others(30): Show |
OSBPL8 | ENSG00000091039.17 | transcript | ENST00000261183.8 | protein_coding | 1/23 | chr12 | TogoVar | ||||||
OSBPL9_chr1_51612092_51794219 | 51636152 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02723.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0182a0001c0001t0006g0183a0001c0001t0006g0184others(1): Show | 4 | 186 | 0.0215 | -13 | c.112 others(32): Show |
OSBPL9 | ENSG00000117859.19 | transcript | ENST00000428468.6 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
OSBPL9_chr1_51612092_51794219 | 51747553 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02723.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0182a0001c0001t0006g0183a0001c0001t0006g0184others(1): Show | 4 | 186 | 0.0215 | -13 | c.463 others(28): Show |
OSBPL9 | ENSG00000117859.19 | transcript | ENST00000428468.6 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
OSCP1_chr1_36412906_36455451 | 36452948 | TCAGGAGT others(6): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00558.hp2 others(79): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0004others(2): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0005others(3): Show | a0001c0001t0001g0240a0001c0001t0001g0244a0001c0001t0001g0248others(74): Show | 82 | 380 | 0.2158 | -13 | c.-25 others(24): Show |
OSCP1 | ENSG00000116885.18 | transcript | ENST00000235532.9 | protein_coding | 2498 | chr1 | TogoVar | ||||||
OSER1_chr20_44190939_44215771 | 44215351 | AGGCTGCA others(6): Show |
A | upstream_gene_variant | MODIFIER | NA18997.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 444 | 0.0023 | -13 | c.-47 others(24): Show |
OSER1 | ENSG00000132823.11 | transcript | ENST00000255174.3 | protein_coding | 4581 | chr20 | TogoVar | ||||||
OSGEPL1_chr2_189741660_189767792 | 189742968 | ACACACAC others(6): Show |
A | downstream_gene_variant | MODIFIER | HG03942.hp2 NA18980.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0029 | 3 | 358 | 0.0084 | -13 | c.*42 others(24): Show |
OSGEPL1 | ENSG00000128694.12 | transcript | ENST00000264151.10 | protein_coding | 3691 | chr2 | TogoVar | ||||||
OSGIN2_chr8_89897570_89932888 | 89909038 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0185 | 1 | 420 | 0.0024 | -13 | c.45- others(26): Show |
OSGIN2 | ENSG00000164823.11 | transcript | ENST00000451899.7 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
OSMR_chr5_38841012_38940641 | 38852718 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG00735.hp2 others(40): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0235a0001c0001t0001g0243a0001c0001t0001g0248others(36): Show | 43 | 382 | 0.1126 | -13 | c.-14 others(30): Show |
OSMR | ENSG00000145623.13 | transcript | ENST00000274276.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
OSTF1_chr9_75083514_75152265 | 75128401 | TATATATT others(6): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076a0001c0001t0002g0079a0001c0001t0002g0090 | 3 | 366 | 0.0082 | -13 | c.132 others(28): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OSTF1_chr9_75083514_75152265 | 75128422 | TATATATT others(6): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0218a0001c0001t0006g0220 | 2 | 366 | 0.0055 | -13 | c.132 others(28): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OSTF1_chr9_75083514_75152265 | 75128568 | TATATATT others(6): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01070.hp1 others(24): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0016a0001c0001t0017others(3): Show | a0001c0001t0002g0001a0001c0001t0002g0065a0001c0001t0002g0066others(22): Show | 27 | 366 | 0.0738 | -13 | c.132 others(28): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OSTF1_chr9_75083514_75152265 | 75141291 | CATATCTC others(6): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01099.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(1): Show | a0001c0001t0004g0002a0001c0001t0004g0152a0001c0001t0004g0153others(7): Show | 11 | 366 | 0.0301 | -13 | c.586 others(28): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OSTN_chr3_191194241_191270615 | 191214436 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0060 | 1 | 402 | 0.0025 | -13 | c.102 others(30): Show |
OSTN | ENSG00000188729.7 | transcript | ENST00000682035.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
OSTN_chr3_191194241_191270615 | 191232331 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG02300.hp2 HG02738.hp1 NA19076.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0145a0001c0001t0001g0181a0001c0001t0002g0070 | 3 | 402 | 0.0075 | -13 | c.317 others(32): Show |
OSTN | ENSG00000188729.7 | transcript | ENST00000682035.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
OSTN_chr3_191194241_191270615 | 191250077 | ATGGATCG others(6): Show |
A | frameshift_variant | HIGH | HG01978.hp1 | a0000 | a0000c0003 | a0000c0003t0002 | a0000c0003t0002g0085 | 1 | 402 | 0.0025 | -13 | c.360 others(20): Show |
p.Met others(5): Show |
OSTN | ENSG00000188729.7 | transcript | ENST00000682035.1 | protein_coding | 4/5 | 427/3231 | 360/402 | 120/133 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
OSTN_chr3_191194241_191270615 | 191264376 | GTACTTAG others(6): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0262 | 1 | 402 | 0.0025 | -13 | c.*15 others(24): Show |
OSTN | ENSG00000188729.7 | transcript | ENST00000682035.1 | protein_coding | 5/5 | 14258 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
OTOA_chr16_21658968_21765729 | 21721266 | CACACACA others(6): Show |
C | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0082 | 1 | 320 | 0.0031 | -13 | c.180 others(32): Show |
OTOA | ENSG00000155719.18 | transcript | ENST00000646100.2 | protein_coding | 17/28 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
OTOF_chr2_26452203_26563756 | 26497089 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02109.hp2 others(5): Show |
a0003a0005a0011others(1): Show | a0003c0010a0005c0012a0011c0039others(1): Show | a0003c0010t0001a0003c0010t0006a0005c0012t0001others(2): Show | a0003c0010t0001g0173a0003c0010t0001g0194a0003c0010t0006g0014others(5): Show | 8 | 284 | 0.0282 | -13 | c.766 others(30): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000272371.7 | protein_coding | 8/46 | chr2 | TogoVar | ||||||
OTOF_chr2_26452203_26563756 | 26524225 | AGGCTGGA others(6): Show |
A | intron_variant | MODIFIER | HG02738.hp2 HG04184.hp1 |
a0002 | a0002c0003a0002c0071 | a0002c0003t0001a0002c0071t0001 | a0002c0003t0001g0196a0002c0071t0001g0201 | 2 | 284 | 0.0070 | -13 | c.227 others(30): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000272371.7 | protein_coding | 3/46 | chr2 | TogoVar | ||||||
OTOGL_chr12_80094537_80385880 | 80190786 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG02683.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0003 | a0001c0001t0001g0094a0005c0005t0003g0096a0005c0005t0003g0097others(2): Show | 5 | 168 | 0.0298 | -13 | c.-19 others(32): Show |
OTOGL | ENSG00000165899.12 | transcript | ENST00000547103.7 | protein_coding | 1/58 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
OTOG_chr11_17542259_17651044 | 17548418 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02257.hp1 others(4): Show |
a0016a0034a0054others(2): Show | a0016c0010a0034c0031a0054c0166others(2): Show | a0016c0010t0001a0034c0031t0001a0054c0166t0001others(2): Show | a0016c0010t0001g0030a0016c0010t0001g0031a0016c0010t0001g0032others(4): Show | 7 | 268 | 0.0261 | -13 | c.216 others(28): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OTOG_chr11_17542259_17651044 | 17613182 | CTTTCTTT others(6): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00621.hp1 others(9): Show |
a0002a0005a0010others(7): Show | a0002c0006a0002c0007a0002c0059others(9): Show | a0002c0006t0001a0002c0007t0001a0002c0059t0001others(9): Show | a0002c0006t0001g0264a0002c0007t0001g0079a0002c0059t0001g0162others(9): Show | 12 | 268 | 0.0448 | -13 | c.643 others(30): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 38/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OTOG_chr11_17542259_17651044 | 17626814 | ATCATAAA others(6): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG00738.hp1 others(23): Show |
a0007a0013a0027others(14): Show | a0007c0009a0007c0114a0013c0030others(17): Show | a0007c0009t0002a0007c0114t0002a0013c0030t0001others(18): Show | a0007c0009t0002g0189a0007c0009t0002g0192a0007c0009t0002g0194others(23): Show | 26 | 268 | 0.0970 | -13 | c.652 others(32): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 39/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |