Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
NXNL1_chr19_17450425_17465926	17463795	A A	AAGGAGAA others(8): Show AAGGAGAAGGAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	15	c.-29 others(26): Show c.-2927_-2926insCCTTCTCCTTCTCCT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2870		chr19	TogoVar
NXN_chr17_794310_984776	836963	C C	CTATTATT others(8): Show CTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01975.hp1 HG02056.hp2 others(18): Show HG00733.hp2 HG01975.hp1 HG02056.hp2 HG02486.hp1 HG02738.hp2 HG02922.hp1 HG03927.hp2 NA18939.hp2 NA18948.hp1 NA18951.hp1 NA18955.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18995.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0019	a0001c0001t0001g0107 a0001c0001t0001g0138 a0001c0001t0001g0221 others(18): Show a0001c0001t0001g0107 a0001c0001t0001g0138 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0002g0067 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0002g0114 a0001c0001t0002g0141 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0188 a0001c0001t0003g0044 a0001c0001t0003g0085 a0001c0001t0003g0143 a0001c0001t0003g0180 a0001c0001t0007g0040 a0001c0001t0019g0004	21	242	0.0868	15	c.361 others(34): Show c.361-10900_361-10886dupATAATAATAATAATA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	836963	C C	CTGTTATT others(8): Show CTGTTATTATTATTAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18972.hp1 NA18964.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0021 a0001c0001t0005g0054 a0001c0001t0002g0021 a0001c0001t0005g0054	2	242	0.0083	15	c.361 others(34): Show c.361-10886_361-10885insATAATAATAATAACA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	839797	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02109.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0171 a0001c0003t0001g0042 a0001c0001t0001g0171 a0001c0003t0001g0042	2	242	0.0083	15	c.361 others(34): Show c.361-13734_361-13720dupTTTTTTTTTTTTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	853723	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0055 a0001c0001t0005g0055	1	242	0.0041	15	c.361 others(34): Show c.361-27646_361-27645insAAAAATATATATATA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	876249	G G	GAAGAAAA others(8): Show GAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp2 HG02132.hp2 others(14): Show HG00642.hp1 HG01070.hp2 HG02132.hp2 HG02698.hp1 HG02723.hp2 HG02886.hp2 HG03491.hp1 HG03669.hp2 HG03704.hp2 HG03927.hp2 HG04204.hp1 HG04228.hp2 NA18952.hp2 NA19007.hp1 NA19030.hp1 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0023 a0001c0002t0032 a0001c0006t0005	a0001c0001t0001g0015 a0001c0001t0001g0118 a0001c0001t0001g0125 others(14): Show a0001c0001t0001g0015 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0195 a0001c0001t0002g0056 a0001c0001t0003g0027 a0001c0001t0003g0085 a0001c0001t0003g0165 a0001c0001t0005g0059 a0001c0001t0005g0074 a0001c0001t0005g0132 a0001c0001t0005g0209 a0001c0001t0006g0144 a0001c0001t0006g0172 a0001c0001t0023g0052 a0001c0002t0032g0242 a0001c0006t0005g0080	17	242	0.0703	15	c.361 others(34): Show c.361-50186_361-50172dupTTCTTTTCTTTTCTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	946682	A A	AAAAGAAT others(8): Show AAAAGAATCGGCTCTG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0109 a0001c0001t0014g0109	1	242	0.0041	15	c.360 others(34): Show c.360+32622_360+32636dupCAGAGCCGATTCTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXPE2_chr11_114673527_114712069	114695867	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	428	0.0023	15	c.133 others(32): Show c.133-2178_133-2177insCACACACACACACAC	NXPE2	ENSG00000204361.10	transcript	ENST00000389586.6	protein_coding	2/5			chr11	TogoVar
NXPE3_chr3_101774211_101833231	101818753	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0261 a0001c0001t0037g0261	1	380	0.0026	15	c.112 others(34): Show c.1129+1753_1129+1754insATATATATATATTTT	NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
NXPH1_chr7_8428609_8757961	8461836	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	208	0.0048	15	c.54+ others(32): Show c.54+26070_54+26084dupAAAAAAAAAAAAAAA	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH1_chr7_8428609_8757961	8678928	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0046 a0001c0001t0006g0046	1	208	0.0048	15	c.55- others(32): Show c.55-72059_55-72045dupTTTTTTTTTTTTTTT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH1_chr7_8428609_8757961	8756316	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02109.hp1 HG02523.hp2 others(5): Show HG01433.hp2 HG02109.hp1 HG02523.hp2 HG02622.hp1 HG02809.hp1 HG02809.hp2 HG03486.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0054 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0054 a0001c0001t0001g0149 a0001c0001t0001g0206 a0001c0001t0003g0011 a0001c0001t0003g0111 a0001c0001t0003g0133	8	208	0.0385	15	c.45 others(26): Show c.4547_*4548insTTTTTTTTTTTTTTT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding		3356		chr7	TogoVar
NXPH2_chr2_138664157_138785390	138707094	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02647.hp2 others(4): Show HG01243.hp1 HG01891.hp1 HG02647.hp2 HG02922.hp2 HG02976.hp1 HG03453.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0203 a0001c0001t0003g0313 a0001c0001t0003g0316 others(4): Show a0001c0001t0003g0203 a0001c0001t0003g0313 a0001c0001t0003g0316 a0001c0001t0003g0330 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0002t0001g0151	7	350	0.0200	15	c.52- others(32): Show c.52-35444_52-35430dupTTTTTTTTTTTTTTT	NXPH2	ENSG00000144227.5	transcript	ENST00000272641.4	protein_coding	1/1			chr2	TogoVar
NXPH2_chr2_138664157_138785390	138711145	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp1 HG03579.hp2 others(2): Show HG01109.hp2 HG02257.hp1 HG03579.hp2 NA18983.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0005 a0001c0002t0001 a0001c0003t0002 a0001c0001t0005 a0001c0002t0001 a0001c0003t0002	a0001c0001t0005g0339 a0001c0002t0001g0098 a0001c0002t0001g0132 others(2): Show a0001c0001t0005g0339 a0001c0002t0001g0098 a0001c0002t0001g0132 a0001c0002t0001g0169 a0001c0003t0002g0319	5	350	0.0143	15	c.52- others(32): Show c.52-39481_52-39480insAAAAAAAAAAAAAAA	NXPH2	ENSG00000144227.5	transcript	ENST00000272641.4	protein_coding	1/1			chr2	TogoVar
NYAP2_chr2_225394710_225708654	225665807	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0188 a0001c0017t0002g0188	1	192	0.0052	15	c.193 others(36): Show c.1932+14288_1932+14302dupAAAAAAAAAAAAAAA	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225704811	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0047	1	192	0.0052	15	c.62 others(26): Show c.6267_*6268insAAAAAAAAAAAAAAA	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding		1158		chr2	TogoVar
NYNRIN_chr14_24394003_24424283	24406201	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(40): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01975.hp2 HG01993.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp2 HG02698.hp1 HG02818.hp1 HG03041.hp1 HG03239.hp1 HG03490.hp2 HG03669.hp2 HG03710.hp1 HG04204.hp1 HG04228.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0005 a0002c0002 others(3): Show a0001c0001 a0001c0005 a0002c0002 a0002c0015 a0002c0017 a0005c0007	a0001c0001t0001 a0001c0005t0001 a0001c0005t0002 others(8): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0002 a0001c0005t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0009 a0002c0015t0021 a0002c0017t0001 a0005c0007t0002	a0001c0001t0001g0025 a0001c0005t0001g0011 a0001c0005t0001g0051 others(23): Show a0001c0001t0001g0025 a0001c0005t0001g0011 a0001c0005t0001g0051 a0001c0005t0001g0076 a0001c0005t0001g0140 a0001c0005t0002g0011 a0001c0005t0002g0071 a0001c0005t0009g0011 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0027 a0002c0002t0001g0053 a0002c0002t0001g0069 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0184 a0002c0002t0001g0200 a0002c0002t0002g0053 a0002c0002t0006g0015 a0002c0002t0009g0078 a0002c0015t0021g0199 a0002c0017t0001g0015 a0005c0007t0002g0050 a0005c0007t0002g0125 a0005c0007t0002g0155 a0005c0007t0002g0163	43	450	0.0956	15	c.199 others(32): Show c.199-1631_199-1617dupAAATAAAATAAAATA	NYNRIN	ENSG00000205978.6	transcript	ENST00000382554.4	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
OAF_chr11_120206032_120235334	120207647	T T	TATTGGAT others(8): Show TATTGGATCTGTACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0019	1	400	0.0025	15	c.-36 others(26): Show c.-3633_-3632insATTGGATCTGTACTA	OAF	ENSG00000184232.9	transcript	ENST00000328965.9	protein_coding		3384		chr11	TogoVar
OAS2_chr12_112973519_113016723	113005903	A A	AAACAACA others(8): Show AAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18906.hp1 HG02572.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0061 a0001c0001t0010g0049 a0001c0001t0003g0061 a0001c0001t0010g0049	2	380	0.0053	15	c.146 others(32): Show c.1469-507_1469-493dupCAACAACAACAACAA	OAS2	ENSG00000111335.14	transcript	ENST00000392583.7	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
OAS3_chr12_112933474_112978251	112934536	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0006 a0002c0004t0003g0006	1	370	0.0027	15	c.-39 others(26): Show c.-3995_-3994insAAGAAAGAAAGAAAG	OAS3	ENSG00000111331.14	transcript	ENST00000228928.12	protein_coding		3937		chr12	TogoVar
OASL_chr12_121014111_121044246	121039548	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01934.hp2 NA18982.hp1 others(6): Show HG01123.hp2 HG01934.hp2 NA18982.hp1 NA18983.hp2 NA19000.hp1 NA19010.hp1 NA19056.hp2 NA19077.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0011 a0001c0002t0001g0037 others(5): Show a0001c0002t0001g0001 a0001c0002t0001g0011 a0001c0002t0001g0037 a0001c0002t0001g0040 a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0131 a0001c0002t0001g0227	9	390	0.0231	15	c.-57 others(24): Show c.-578_-577insAAAAAAAAAAAAAAA	OASL	ENSG00000135114.14	transcript	ENST00000257570.10	protein_coding		303		chr12	TogoVar
OBI1_chr13_78609289_78664155	78659294	T T	TGAATGAA others(8): Show TGAATGAATGAATGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01074.hp2 HG02135.hp2 others(2): Show HG00642.hp2 HG01074.hp2 HG02135.hp2 NA18941.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0189 a0001c0001t0002g0220 others(2): Show a0001c0001t0002g0010 a0001c0001t0002g0189 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0237	5	296	0.0169	15	c.-17 others(24): Show c.-175_-174insTTCATTCATTCATTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		140		chr13	TogoVar
OBSCN_chr1_228203044_228383876	228381628	C C	CCTCCTCC others(8): Show CCTCCTCCTCCGTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0004 a0004	a0004c0150 a0004c0150	a0004c0150t0001 a0004c0150t0001	a0004c0150t0001g0010 a0004c0150t0001g0010	1	320	0.0031	15	c.28 others(26): Show c.2833_*2834insCTCCTCCTCCGTTGT	OBSCN	ENSG00000154358.23	transcript	ENST00000680850.1	protein_coding		2753		chr1	TogoVar
OCA2_chr15_27749875_28104315	27831284	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0108 a0001c0001t0005g0108	1	110	0.0091	15	c.243 others(36): Show c.2432+13660_2432+13674dupTTTTTTTTTTTTTTT	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27891023	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0001 a0006c0023t0001	a0006c0023t0001g0093 a0006c0023t0001g0093	1	110	0.0091	15	c.208 others(36): Show c.2080-19102_2080-19101insTTTTTTTTTTTTTTT	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	19/23			chr15	TogoVar
OCIAD2_chr4_48880019_48911774	48900157	C C	CGCAGGCA others(8): Show CGCAGGCAGCAGATTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01192.hp2 others(6): Show HG00099.hp1 HG00323.hp2 HG01192.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp1 HG03540.hp2 HG04199.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0123 a0001c0001t0003g0126 a0001c0001t0003g0009 a0001c0001t0003g0123 a0001c0001t0003g0126	9	364	0.0247	15	c.67- others(28): Show c.67-247_67-233dupAAATCTGCTGCCTGC	OCIAD2	ENSG00000145247.12	transcript	ENST00000508632.6	protein_coding	2/6			chr4	TogoVar
OCRL_chrX_129535259_129597556	129581831	T T	TCTCTCTC others(8): Show TCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	278	0.0036	15	c.211 others(34): Show c.2116-2513_2116-2512insCTCTCTCTCTCTCTC	OCRL	ENSG00000122126.18	transcript	ENST00000371113.9	protein_coding	18/23			chrX	TogoVar
OCSTAMP_chr20_46535946_46555654	46542574	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG02132.hp1 others(6): Show HG00544.hp2 HG00558.hp2 HG02132.hp1 NA18612.hp1 NA18974.hp1 NA19007.hp2 NA19056.hp1 NA19065.hp2 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0017 a0001c0002t0004g0118 a0001c0002t0004g0134 others(3): Show a0001c0002t0004g0017 a0001c0002t0004g0118 a0001c0002t0004g0134 a0001c0002t0004g0160 a0001c0002t0004g0221 a0001c0002t0004g0241	9	442	0.0204	15	c.104 others(32): Show c.1048-648_1048-647insTTTTTTTTTTTTTTT	OCSTAMP	ENSG00000149635.3	transcript	ENST00000279028.3	protein_coding	2/2			chr20	TogoVar
OCSTAMP_chr20_46535946_46555654	46555387	C C	CACACACA others(8): Show CACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	442	0.0023	15	c.-48 others(26): Show c.-4828_-4827insTGTGTGTGTGTGTGT	OCSTAMP	ENSG00000149635.3	transcript	ENST00000279028.3	protein_coding		4734		chr20	TogoVar
ODAD2_chr10_27807168_28004079	27820777	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp2 NA20300.hp1 HG02630.hp2 HG02647.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0037 a0001c0001 a0004c0037	a0001c0001t0001 a0004c0037t0001 a0001c0001t0001 a0004c0037t0001	a0001c0001t0001g0116 a0001c0001t0001g0141 a0004c0037t0001g0204 a0001c0001t0001g0116 a0001c0001t0001g0141 a0004c0037t0001g0204	3	304	0.0099	15	c.302 others(34): Show c.3022-8167_3022-8153dupAAAAAAAAAAAAAAA	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	19/19			chr10	TogoVar
ODAD2_chr10_27807168_28004079	27882173	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp2 HG03927.hp1 others(4): Show HG03225.hp1 HG03225.hp2 HG03927.hp1 NA18906.hp2 NA19009.hp1 NA19057.hp1 NA19057.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0002 a0007c0006 others(1): Show a0001c0001 a0001c0002 a0007c0006 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0007c0006t0001 a0008c0011t0002	a0001c0001t0001g0071 a0001c0001t0001g0301 a0001c0001t0002g0101 others(4): Show a0001c0001t0001g0071 a0001c0001t0001g0301 a0001c0001t0002g0101 a0001c0001t0002g0196 a0001c0002t0002g0285 a0007c0006t0001g0233 a0008c0011t0002g0146	7	304	0.0230	15	c.261 others(36): Show c.2611-19552_2611-19551insCTTTCTTTCTTTCTT	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	17/19			chr10	TogoVar
ODAD2_chr10_27807168_28004079	27952074	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01433.hp2 HG01515.hp1 others(30): Show HG01070.hp1 HG01433.hp2 HG01515.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02300.hp1 HG02300.hp2 HG02735.hp2 HG02809.hp1 HG03041.hp1 HG03490.hp2 HG04204.hp1 NA18747.hp1 NA18906.hp2 NA18942.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18967.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18990.hp2 NA18993.hp2 NA18999.hp1 NA19005.hp2 NA19054.hp2 NA19083.hp2 NA19088.hp1 NA19090.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0008 a0012 a0020	a0001c0002 a0002c0003 a0007c0029 others(3): Show a0001c0002 a0002c0003 a0007c0029 a0008c0011 a0012c0038 a0020c0023	a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 others(6): Show a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0007c0029t0001 a0008c0011t0002 a0012c0038t0002 a0020c0023t0001	a0001c0002t0001g0005 a0001c0002t0002g0022 a0001c0002t0002g0030 others(30): Show a0001c0002t0001g0005 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0002g0064 a0001c0002t0002g0078 a0001c0002t0002g0089 a0001c0002t0002g0098 a0002c0003t0001g0145 a0002c0003t0001g0165 a0002c0003t0001g0179 a0002c0003t0001g0180 a0002c0003t0002g0143 a0002c0003t0002g0144 a0002c0003t0002g0151 a0002c0003t0002g0152 a0002c0003t0002g0153 a0002c0003t0002g0158 a0002c0003t0002g0159 a0002c0003t0002g0162 a0002c0003t0002g0173 a0002c0003t0002g0175 a0002c0003t0002g0177 a0002c0003t0002g0182 a0002c0003t0002g0183 a0002c0003t0002g0185 a0002c0003t0002g0187 a0002c0003t0002g0188 a0002c0003t0003g0174 a0007c0029t0001g0166 a0008c0011t0002g0146 a0008c0011t0002g0147 a0012c0038t0002g0170 a0020c0023t0001g0178	33	304	0.1086	15	c.138 others(34): Show c.1387-7127_1387-7113dupTTTTTTTTTTTTTTT	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	10/19			chr10	TogoVar
ODAD2_chr10_27807168_28004079	27959192	A A	AGGAGGGG others(8): Show AGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03209.hp1 HG03098.hp1 HG03209.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0267 a0010c0016t0001g0268 a0010c0016t0001g0267 a0010c0016t0001g0268	2	304	0.0066	15	c.138 others(34): Show c.1386+2361_1386+2375dupCCTCCCCTCCCCTCC	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	10/19			chr10	TogoVar
ODAD4_chr17_41925617_41971503	41931909	T T	TTTGTTGT others(8): Show TTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01257.hp2 HG01258.hp2 others(4): Show HG01256.hp2 HG01257.hp2 HG01258.hp2 HG02074.hp2 HG02922.hp1 HG03130.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0328 a0001c0002t0001g0001 a0001c0002t0001g0028 others(2): Show a0001c0001t0001g0328 a0001c0002t0001g0001 a0001c0002t0001g0028 a0001c0002t0001g0049 a0001c0002t0001g0256	7	340	0.0206	15	c.114 others(32): Show c.114+1090_114+1104dupGTTGTTGTTGTTGTT	ODAD4	ENSG00000204815.10	transcript	ENST00000377540.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ODAD4_chr17_41925617_41971503	41944444	A A	ACACACAC others(8): Show ACACACACACACACCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18965.hp2 HG02559.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0042 a0001c0002t0001g0057 a0001c0001t0001g0042 a0001c0002t0001g0057	2	340	0.0059	15	c.105 others(32): Show c.1059-691_1059-690insACACACACACACCCC	ODAD4	ENSG00000204815.10	transcript	ENST00000377540.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ODAD4_chr17_41925617_41971503	41944444	A A	ACACACCC others(8): Show ACACACCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	340	0.0029	15	c.105 others(32): Show c.1059-691_1059-690insACACCCCCCCCCCCC	ODAD4	ENSG00000204815.10	transcript	ENST00000377540.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ODF1_chr8_102546589_102566018	102548311	C C	CAAGTTGG others(8): Show CAAGTTGGGCAACACT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0019 a0003c0003t0001g0019	1	460	0.0022	15	c.-34 others(26): Show c.-3417_-3416insAAGTTGGGCAACACT	ODF1	ENSG00000155087.4	transcript	ENST00000285402.4	protein_coding		3277		chr8	TogoVar
ODF2_chr9_128451006_128506292	128470016	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0191 a0002c0003t0001g0191	1	346	0.0029	15	c.669 others(30): Show c.669+663_669+664insTATATATATATATAT	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20			chr9	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	346	0.0029	15	c.669 others(30): Show c.669+666_669+667insATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03098.hp2 NA19055.hp1 HG02615.hp1 HG03098.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0006 a0001c0001t0001 a0001c0001t0002 a0001c0005t0006	a0001c0001t0001g0176 a0001c0001t0002g0051 a0001c0005t0006g0163 a0001c0001t0001g0176 a0001c0001t0002g0051 a0001c0005t0006g0163	3	346	0.0087	15	c.669 others(30): Show c.669+665_669+666insTATATATATATATAT	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20			chr9	TogoVar
ODF2_chr9_128451006_128506292	128497446	A A	AAAAAAAA others(8): Show AAAAAAAAAAACATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	346	0.0029	15	c.226 others(32): Show c.2262-966_2262-965insAAAAAAAAACATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128497446	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	346	0.0029	15	c.226 others(32): Show c.2262-966_2262-965insAAAAATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
OFD1_chrX_13729748_13774357	13755946	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19240.hp1 HG02717.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0144 a0001c0003t0001g0145	2	327	0.0061	15	c.122 others(32): Show c.1222-624_1222-610dupTTTTTTTTTTTTTTT	OFD1	ENSG00000046651.16	transcript	ENST00000340096.11	protein_coding	12/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
OGDH_chr7_44601627_44714066	44603188	A A	AAAATTAG others(8): Show AAAATTAGCCTAGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0075 a0002c0003t0001g0075	1	306	0.0033	15	c.-34 others(26): Show c.-3493_-3492insAAATTAGCCTAGCCT	OGDH	ENSG00000105953.16	transcript	ENST00000222673.6	protein_coding		3438		chr7	TogoVar
OGDH_chr7_44601627_44714066	44669145	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp2 HG03041.hp1 others(2): Show HG02615.hp2 HG02818.hp2 HG03041.hp1 NA18968.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0014 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0014 a0002c0003t0001	a0001c0001t0001g0196 a0001c0002t0001g0088 a0001c0002t0001g0186 others(2): Show a0001c0001t0001g0196 a0001c0002t0001g0088 a0001c0002t0001g0186 a0001c0002t0014g0087 a0002c0003t0001g0075	5	306	0.0163	15	c.633 others(32): Show c.633+2305_633+2319dupTTTTTTTTTTTTTTT	OGDH	ENSG00000105953.16	transcript	ENST00000222673.6	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
OGDH_chr7_44601627_44714066	44705051	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03209.hp1 HG03516.hp2 others(2): Show HG02895.hp2 HG03209.hp1 HG03516.hp2 HG03540.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0001 a0001c0001t0009 a0001c0002t0001	a0001c0001t0009g0141 a0001c0002t0001g0222 a0001c0002t0001g0225 others(2): Show a0001c0001t0009g0141 a0001c0002t0001g0222 a0001c0002t0001g0225 a0001c0002t0001g0234 a0001c0002t0001g0250	5	306	0.0163	15	c.263 others(34): Show c.2633-2169_2633-2155dupTTTTTTTTTTTTTTT	OGDH	ENSG00000105953.16	transcript	ENST00000222673.6	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
OGFOD1_chr16_56446554_56484104	56480352	C C	CACAAAAA others(8): Show CACAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG03098.hp1 NA19240.hp2 HG02572.hp2 HG03098.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0225 a0001c0001t0002g0237 a0001c0001t0002g0185 a0001c0001t0002g0225 a0001c0001t0002g0237	3	430	0.0070	15	c.41 others(26): Show c.4147_*4148insACAAAAAAAAAAAAA	OGFOD1	ENSG00000087263.17	transcript	ENST00000566157.6	protein_coding		1249		chr16	TogoVar
OGFOD1_chr16_56446554_56484104	56480352	C C	CACACAAA others(8): Show CACACAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0241 a0001c0013t0002g0241	1	430	0.0023	15	c.41 others(26): Show c.4147_*4148insACACAAAAAAAAAAA	OGFOD1	ENSG00000087263.17	transcript	ENST00000566157.6	protein_coding		1249		chr16	TogoVar
OGFOD1_chr16_56446554_56484104	56480354	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 NA18940.hp2 NA18941.hp2 others(8): Show HG02523.hp1 NA18940.hp2 NA18941.hp2 NA18945.hp1 NA18955.hp1 NA18975.hp1 NA18982.hp2 NA18992.hp1 NA19009.hp2 NA19077.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0033 a0001c0001t0004 a0001c0001t0033	a0001c0001t0004g0004 a0001c0001t0004g0009 a0001c0001t0004g0022 others(5): Show a0001c0001t0004g0004 a0001c0001t0004g0009 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0039 a0001c0001t0004g0094 a0001c0001t0004g0096 a0001c0001t0033g0004	11	430	0.0256	15	c.41 others(26): Show c.4149_*4150insAAAAAAAAAAAAAAC	OGFOD1	ENSG00000087263.17	transcript	ENST00000566157.6	protein_coding		1251		chr16	TogoVar
OGFOD1_chr16_56446554_56484104	56480355	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG02109.hp2 HG03831.hp2 others(1): Show HG01981.hp1 HG02109.hp2 HG03831.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0004 a0001c0001t0004 a0001c0004t0004	a0001c0001t0004g0022 a0001c0001t0004g0095 a0001c0001t0004g0102 others(1): Show a0001c0001t0004g0022 a0001c0001t0004g0095 a0001c0001t0004g0102 a0001c0004t0004g0099	4	430	0.0093	15	c.41 others(26): Show c.4150_*4151insAAAAAAAAAAAAAAC	OGFOD1	ENSG00000087263.17	transcript	ENST00000566157.6	protein_coding		1252		chr16	TogoVar

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