Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
USH2A_chr1_215617891_216428448	215743386	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0062 a0062	a0062c0042 a0062c0042	a0062c0042t0001 a0062c0042t0001	a0062c0042t0001g0031 a0062c0042t0001g0031	1	24	0.0417	36	c.113 others(53): Show c.11390-52_11390-51insCACATATATATATATATATATATATATA TATATATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	58/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	215743386	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0034 a0034	a0034c0045 a0034c0045	a0034c0045t0006 a0034c0045t0006	a0034c0045t0006g0028 a0034c0045t0006g0028	1	24	0.0417	36	c.113 others(53): Show c.11390-52_11390-51insCACACACATATATATATATATATATATA TATATATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	58/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	215743386	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0050 a0050	a0050c0013 a0050c0013	a0050c0013t0001 a0050c0013t0001	a0050c0013t0001g0023 a0050c0013t0001g0023	1	24	0.0417	36	c.113 others(53): Show c.11390-52_11390-51insCACACACACATATATATATATATATATA TATATATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	58/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216029992	T T	TAGATATA others(29): Show TAGATATATAATATATGATATATATGATATATATCAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01069.hp2 others(19): Show HG00140.hp1 HG00140.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG02004.hp2 HG02055.hp2 HG02451.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02896.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1	a0002 a0004 a0005 others(19): Show a0002 a0004 a0005 a0006 a0007 a0008 a0010 a0012 a0013 a0016 a0018 a0022 a0031 a0032 a0035 a0037 a0056 a0059 a0061 a0066 a0068 a0070	a0002c0071 a0004c0069 a0005c0029 others(19): Show a0002c0071 a0004c0069 a0005c0029 a0006c0073 a0007c0036 a0008c0037 a0010c0063 a0012c0021 a0013c0065 a0016c0041 a0018c0027 a0022c0057 a0031c0040 a0032c0070 a0035c0033 a0037c0011 a0056c0034 a0059c0025 a0061c0012 a0066c0051 a0068c0046 a0070c0068	a0002c0071t0001 a0004c0069t0001 a0005c0029t0007 others(19): Show a0002c0071t0001 a0004c0069t0001 a0005c0029t0007 a0006c0073t0001 a0007c0036t0001 a0008c0037t0001 a0010c0063t0001 a0012c0021t0005 a0013c0065t0004 a0016c0041t0004 a0018c0027t0002 a0022c0057t0001 a0031c0040t0001 a0032c0070t0001 a0035c0033t0001 a0037c0011t0001 a0056c0034t0003 a0059c0025t0001 a0061c0012t0002 a0066c0051t0001 a0068c0046t0004 a0070c0068t0001	a0002c0071t0001g0058 a0004c0069t0001g0057 a0005c0029t0007g0043 others(19): Show a0002c0071t0001g0058 a0004c0069t0001g0057 a0005c0029t0007g0043 a0006c0073t0001g0054 a0007c0036t0001g0027 a0008c0037t0001g0033 a0010c0063t0001g0056 a0012c0021t0005g0003 a0013c0065t0004g0074 a0016c0041t0004g0026 a0018c0027t0002g0042 a0022c0057t0001g0064 a0031c0040t0001g0034 a0032c0070t0001g0052 a0035c0033t0001g0037 a0037c0011t0001g0046 a0056c0034t0003g0045 a0059c0025t0001g0039 a0061c0012t0002g0005 a0066c0051t0001g0066 a0068c0046t0004g0016 a0070c0068t0001g0053	22	70	0.3143	36	c.632 others(57): Show c.6325+16403_6325+16438dupGTGATATATATCATATATATCATA TATTATATATCT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	32/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216394720	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0042 a0042	a0042c0056 a0042c0056	a0042c0056t0005 a0042c0056t0005	a0042c0056t0005g0070 a0042c0056t0005g0070	1	41	0.0244	36	c.651 others(55): Show c.651+23793_651+23794insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	3/71			chr1	TogoVar
USP10_chr16_84695000_84784922	84720576	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 NA18947.hp2 HG00280.hp2 HG00621.hp1 NA18947.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0079 a0002c0001t0001g0215 a0002c0001t0001g0385 a0002c0001t0001g0079 a0002c0001t0001g0215 a0002c0001t0001g0385	3	50	0.0600	36	c.22- others(53): Show c.22-12836_22-12835insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
USP13_chr3_179648040_179794401	179687659	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp2 NA18612.hp1 NA18612.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0011 a0004c0013t0001 a0001c0001t0011 a0004c0013t0001	a0001c0001t0011g0224 a0004c0013t0001g0010 a0001c0001t0011g0224 a0004c0013t0001g0010	2	25	0.0800	36	c.295 others(53): Show c.295-2556_295-2555insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP20_chr9_129830458_129886828	129846247	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0029 a0001c0001t0001g0030	2	105	0.0190	36	c.-12 others(55): Show c.-128-3565_-128-3564insATATATATATATATATATATATATAT ATATTTTTTT	USP20	ENSG00000136878.14	transcript	ENST00000372429.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
USP27X_chrX_49874484_49887558	49879574	A A	AGGGGAAG others(29): Show AGGGGAAGGCGGAGGCGGCGGGGAAGGCGGAGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01258.hp1 NA18992.hp2 HG01258.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0000 a0001c0001t0009g0000	2	261	0.0077	36	c.-72 others(45): Show c.-725_-690dupCGGAGGCGGCGGGGAAGGCGGAGGCGGCGGGGAAGG	USP27X	ENSG00000273820.2	transcript	ENST00000621775.2	protein_coding	1/1	689	INFO_REALIGN_3_PRIME	chrX	TogoVar
USP34_chr2_61182463_61476087	61311460	G G	GAGAATAA others(29): Show GAGAATAAAAGAAAAGGAAAGGAGAAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0021 a0001c0005t0021	a0001c0005t0021g0074 a0001c0005t0021g0074	1	310	0.0032	36	c.381 others(51): Show c.3817+79_3817+80insTTCTTTCTCTTTTCTCCTTTCCTTTTCTTT TATTCT	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding	27/79			chr2	TogoVar
USP34_chr2_61182463_61476087	61475510	C C	CTATTCCT others(29): Show CTATTCCTATTGGTCCTTTCTTTTTCTTCTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0309 a0001c0003t0027g0309	1	310	0.0032	36	c.-48 others(47): Show c.-4819_-4818insCAAAAAAAGAAGAAAAAGAAAGGACCAATAGGAA TA	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding		4424		chr2	TogoVar
USP36_chr17_78790652_78845814	78821420	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0248 a0009c0010t0001g0248	1	265	0.0038	36	c.758 others(51): Show c.758-360_758-359insAAAAAAAAAATATATATATATATATATATA TATATA	USP36	ENSG00000055483.20	transcript	ENST00000449938.7	protein_coding	7/20			chr17	TogoVar
USP36_chr17_78790652_78845814	78834997	G G	GTGTATAT others(29): Show GTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19240.hp2 HG02615.hp2 NA19240.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0243 a0009c0010t0001g0245 a0009c0010t0001g0243 a0009c0010t0001g0245	2	71	0.0282	36	c.475 others(51): Show c.475+282_475+283insTATATATATATATATATATATATATATATA TATACA	USP36	ENSG00000055483.20	transcript	ENST00000449938.7	protein_coding	4/20			chr17	TogoVar
USP3_chr15_63499593_63599633	63580641	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0126 a0001c0001t0005g0126	1	204	0.0049	36	c.109 others(55): Show c.1096+6248_1096+6249insATATATATATATATATATATATATAT ATATATATAT	USP3	ENSG00000140455.17	transcript	ENST00000380324.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
USP46_chr4_52585960_52664301	52632918	G G	GAGAAAGA others(29): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	120	0.0083	36	c.37- others(51): Show c.37-1810_37-1775dupTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	USP46	ENSG00000109189.13	transcript	ENST00000441222.8	protein_coding	1/8			chr4	TogoVar
USP49_chr6_41784896_41900375	41828825	T T	TTTTTTTT others(29): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03139.hp1 HG01891.hp2 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0043 a0001c0003t0012g0044 a0001c0003t0012g0043 a0001c0003t0012g0044	2	380	0.0053	36	c.-28 others(55): Show c.-28-21815_-28-21814insCTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAA	USP49	ENSG00000164663.15	transcript	ENST00000682992.1	protein_coding	3/7			chr6	TogoVar
USP50_chr15_50495562_50551666	50525572	G G	GTATATGT others(29): Show GTATATGTATATATGTATATGTATATATGTATATGTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	379	0.0026	36	c.936 others(53): Show c.936+4189_936+4224dupTACATATACATATATACATATACATATA TACATATA	USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	6/6			chr15	TogoVar
USP53_chr4_119207713_119300518	119213641	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0025 a0001c0001t0019g0025	1	280	0.0036	36	c.-94 others(53): Show c.-941-409_-941-408insATATATATATATATATATATATATATAT ATATATAT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(29): Show ATATATATATATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0228 a0001c0001t0009g0228	1	232	0.0043	36	c.-94 others(53): Show c.-941-409_-941-408insATATATATATATGTGTGTGTGTGTGTGT GTGTGTGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(29): Show ATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03831.hp1 NA18950.hp1 HG03195.hp1 HG03831.hp1 NA18950.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0004 a0001c0003t0003 a0001c0003t0004	a0001c0003t0003g0240 a0001c0003t0004g0239 a0001c0003t0004g0241 a0001c0003t0003g0240 a0001c0003t0004g0239 a0001c0003t0004g0241	3	234	0.0128	36	c.-94 others(53): Show c.-941-409_-941-408insATATATATATGTGTGTGTGTGTGTGTGT GTGTGTGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(29): Show ATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01257.hp1 HG01258.hp1 others(10): Show HG01070.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01433.hp1 HG02004.hp1 HG02004.hp2 HG03041.hp1 HG03239.hp2 NA18943.hp1 NA18981.hp1 NA18999.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0001c0003t0004 a0001c0003t0039 others(1): Show a0001c0003t0003 a0001c0003t0004 a0001c0003t0039 a0002c0002t0014	a0001c0003t0003g0022 a0001c0003t0003g0277 a0001c0003t0003g0280 others(9): Show a0001c0003t0003g0022 a0001c0003t0003g0277 a0001c0003t0003g0280 a0001c0003t0003g0286 a0001c0003t0004g0278 a0001c0003t0004g0279 a0001c0003t0004g0281 a0001c0003t0004g0283 a0001c0003t0004g0284 a0001c0003t0004g0285 a0001c0003t0039g0276 a0002c0002t0014g0282	13	244	0.0533	36	c.-94 others(53): Show c.-941-409_-941-408insATATATATGTGTGTGTGTGTGTGTGTGT GTGTGTGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(29): Show ATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp2 HG02922.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0023 a0001c0001t0026g0023	2	233	0.0086	36	c.-94 others(53): Show c.-941-409_-941-408insATATATGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATGT others(29): Show ATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0294 a0001c0001t0017g0294	1	232	0.0043	36	c.-94 others(53): Show c.-941-409_-941-408insATATGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119227256	T T	TATACACA others(29): Show TATACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0324 a0001c0004t0005g0324	1	26	0.0385	36	c.-66 others(55): Show c.-664-8033_-664-8032insTACACACACACACACACACACACACA CACACACACA	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP7_chr16_8887097_8968906	8897726	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	27	0.0370	36	c.271 others(53): Show c.2719-628_2719-627insATATATATATATATATATATATTTTTTT TTTTTTTT	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	25/30			chr16	TogoVar
USP8_chr15_50419405_50519421	50450462	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0141 a0002c0003t0141	a0002c0003t0141g0098 a0002c0003t0141g0098	1	117	0.0085	36	c.335 others(53): Show c.335+1001_335+1002insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr15	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACACAC others(29): Show ACACACACACACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	64	0.0156	36	c.96+ others(51): Show c.96+1961_96+1962insACACACACACACACACACACACTCTCTCTC TCTCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACACAC others(29): Show ACACACACACACACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0164 a0001c0003t0001g0164	1	64	0.0156	36	c.96+ others(51): Show c.96+1961_96+1962insACACACACACACACACACTCTCTCTCTCTC TCTCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACACAC others(29): Show ACACACACACTCACTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0180 a0001c0001t0021g0180	1	64	0.0156	36	c.96+ others(51): Show c.96+1961_96+1962insACACACACTCACTCTCTCTCTCTCTCTCTC TCTCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41161635	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18994.hp1 HG03831.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0189 a0001c0001t0001g0005 a0001c0001t0001g0189	2	96	0.0208	36	c.189 others(55): Show c.1898-1132_1898-1131insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	14/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
UTP11_chr1_38007734_38029820	38012048	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	143	0.0070	36	c.-75 others(45): Show c.-755_-754insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	UTP11	ENSG00000183520.12	transcript	ENST00000373014.5	protein_coding		685		chr1	TogoVar
UTP20_chr12_101275105_101391618	101310577	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0037 a0004c0009t0001g0037	1	89	0.0112	36	c.223 others(53): Show c.2231+759_2231+760insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTP20_chr12_101275105_101391618	101310595	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0117 a0002c0005t0005g0117	1	325	0.0031	36	c.223 others(53): Show c.2231+759_2231+760insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGAAA	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTRN_chr6_144280335_144858034	144690074	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0006 a0001c0045t0006	a0001c0045t0006g0060 a0001c0045t0006g0060	1	66	0.0152	36	c.765 others(55): Show c.7653-9991_7653-9990insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	52/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144824472	A A	AGTATATA others(29): Show AGTATATATACACATATACAATAAATATGTATATATT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG03098.hp1 others(5): Show HG00735.hp1 HG01099.hp1 HG03098.hp1 HG03486.hp1 HG03927.hp2 HG04228.hp2 NA18954.hp2 NA19074.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0003 a0001c0052 a0002c0024 others(2): Show a0001c0003 a0001c0052 a0002c0024 a0003c0004 a0013c0046	a0001c0003t0006 a0001c0052t0028 a0002c0024t0003 others(3): Show a0001c0003t0006 a0001c0052t0028 a0002c0024t0003 a0003c0004t0002 a0003c0004t0003 a0013c0046t0020	a0001c0003t0006g0029 a0001c0052t0028g0113 a0002c0024t0003g0097 others(5): Show a0001c0003t0006g0029 a0001c0052t0028g0113 a0002c0024t0003g0097 a0003c0004t0002g0027 a0003c0004t0003g0107 a0003c0004t0003g0108 a0003c0004t0003g0111 a0013c0046t0020g0069	8	125	0.0640	36	c.949 others(55): Show c.9495-2866_9495-2831dupCACATATACAATAAATATGTATATAT TGTATATATA	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	66/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTS2_chr1_7842612_7858065	7857100	A A	AAAGGAAG others(29): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	359	0.0028	36	c.-40 others(47): Show c.-4098_-4097insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TT	UTS2	ENSG00000049247.14	transcript	ENST00000361696.10	protein_coding		4036		chr1	TogoVar
UTS2_chr1_7842612_7858065	7857107	T T	TGAAGGAA others(29): Show TGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	4	0.2500	36	c.-41 others(47): Show c.-4105_-4104insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TC	UTS2	ENSG00000049247.14	transcript	ENST00000361696.10	protein_coding		4043		chr1	TogoVar
UTY_chrY_13243385_13485033	13446619	T T	TAGATAGA others(29): Show TAGATAGATAGATAGACAGACAGACAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	33	0.0303	36	c.375 others(53): Show c.375+2397_375+2398insGTCTGTCTGTCTGTCTGTCTGTCTATCT ATCTATCT	UTY	ENSG00000183878.16	transcript	ENST00000545955.6	protein_coding	4/29			chrY	TogoVar
UTY_chrY_13243385_13485033	13446619	T T	TAGATAGA others(29): Show TAGATAGATAGATAGATAGACAGACAGACAGACAGAC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	33	0.0303	36	c.375 others(53): Show c.375+2397_375+2398insGTCTGTCTGTCTGTCTGTCTATCTATCT ATCTATCT	UTY	ENSG00000183878.16	transcript	ENST00000545955.6	protein_coding	4/29			chrY	TogoVar
UTY_chrY_13243385_13485033	13446619	T T	TAGATAGA others(29): Show TAGATAGATAGATAGATAGATAGATAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18959.hp1 HG02698.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0061 a0001c0001t0001g0062	2	34	0.0588	36	c.375 others(53): Show c.375+2397_375+2398insGTCTGTCTGTCTATCTATCTATCTATCT ATCTATCT	UTY	ENSG00000183878.16	transcript	ENST00000545955.6	protein_coding	4/29			chrY	TogoVar
UVRAG_chr11_75810210_76149232	76003288	T T	TTTTTTTT others(29): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	144	0.0069	36	c.827 others(51): Show c.827-717_827-716insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTG	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	8/14			chr11	TogoVar
UXT_chrX_47646796_47664180	47660105	C C	CCCTTCCT others(29): Show CCCTTCCTTCCTTCCTTCCGTCCTTCCTTCCGTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	189	0.0106	36	c.-10 others(47): Show c.-1001_-1000insAAGGACGGAAGGAAGGACGGAAGGAAGGAAGGAA GG	UXT	ENSG00000126756.12	transcript	ENST00000333119.8	protein_coding		926		chrX	TogoVar
UXT_chrX_47646796_47664180	47660105	C C	CCCTTCCT others(29): Show CCCTTCCTTCCTTCCTTCCGTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02818.hp2 HG02886.hp2 others(2): Show HG02572.hp1 HG02818.hp2 HG02886.hp2 HG02970.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0009 a0001c0001t0001g0011	5	192	0.0260	36	c.-10 others(47): Show c.-1001_-1000insAAGGAAGGAAGGAAGGACGGAAGGAAGGAAGGAA GG	UXT	ENSG00000126756.12	transcript	ENST00000333119.8	protein_coding		926		chrX	TogoVar
VAV1_chr19_6767708_6862361	6814667	C C	CCTTTCTT others(29): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	204	0.0049	36	c.205 others(53): Show c.205-6032_205-6031insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	27	0.0370	36	c.205 others(53): Show c.205-6028_205-6027insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	27	0.0370	36	c.205 others(53): Show c.205-6028_205-6027insCCTTCCTTCCTTCCTTCCTTCCTTTCTT TCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	27	0.0370	36	c.205 others(53): Show c.205-6028_205-6027insCCTTCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(29): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18994.hp1 NA19054.hp2 HG02074.hp1 NA18994.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0138 a0001c0001t0001g0203 a0001c0001t0001g0081 a0001c0001t0001g0138 a0001c0001t0001g0203	3	29	0.1034	36	c.205 others(53): Show c.205-6028_205-6027insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTTCTT others(29): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA19082.hp2 HG02155.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0285 a0001c0001t0001g0288	2	28	0.0714	36	c.205 others(53): Show c.205-6005_205-5970dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6832527	C C	CTCCTCCC others(29): Show CTCCTCCCCTTCCTCTTCTTCTTCCTCCTCCTCTCCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	304	0.0033	36	c.150 others(53): Show c.1508+342_1508+377dupTTCTTCTTCCTCCTCCTCTCCTTCCTCC CCTTCCTC	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	15/26		INFO_REALIGN_3_PRIME	chr19	TogoVar

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