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 annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HTRA3_chr4_8264754_8312098	8288878	T T	TTTCCTTC others(1): Show TTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG00741.hp2 others(34): Show HG00423.hp1 HG00609.hp2 HG00741.hp2 HG01109.hp2 HG01167.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01516.hp1 HG01943.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02145.hp2 HG02486.hp2 HG02622.hp1 HG02647.hp1 HG02735.hp2 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03654.hp2 HG03688.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18948.hp2 NA18994.hp2 NA19030.hp2 NA19083.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0014 a0008c0009 a0001c0001 a0001c0014 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0014t0001 a0008c0009t0001	a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0039 others(31): Show a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0153 a0001c0001t0002g0011 a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0152 a0001c0001t0002g0156 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0003g0161 a0001c0001t0005g0120 a0001c0001t0007g0181 a0001c0014t0001g0346 a0008c0009t0001g0347	37	388	0.0954	8	c.708 others(25): Show c.708+2104_708+2111dupTTCCTTCC	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8288899	G G	GTCCTTCC others(1): Show GTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02809.hp2 others(5): Show HG02257.hp1 HG02559.hp2 HG02809.hp2 HG02976.hp2 HG03041.hp2 HG03471.hp2 NA18906.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0010 a0001c0001t0001 a0001c0001t0002 a0002c0002t0010	a0001c0001t0001g0032 a0001c0001t0001g0167 a0001c0001t0001g0184 others(4): Show a0001c0001t0001g0032 a0001c0001t0001g0167 a0001c0001t0001g0184 a0001c0001t0001g0343 a0001c0001t0002g0005 a0001c0001t0002g0087 a0002c0002t0010g0059	8	388	0.0206	8	c.708 others(25): Show c.708+2145_708+2152dupTCCTTCCT	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8303900	T T	TCATCCAT others(1): Show TCATCCATC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp1 HG03098.hp1 others(1): Show HG01109.hp2 HG02257.hp1 HG03098.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0001 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0343 a0001c0001t0007g0159 a0001c0001t0007g0181 others(1): Show a0001c0001t0001g0343 a0001c0001t0007g0159 a0001c0001t0007g0181 a0001c0001t0008g0175	4	388	0.0103	8	c.110 others(25): Show c.1101-262_1101-255dupATCCATCC	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA4_chr8_38969228_38993663	38969941	C C	CTGTGTGT others(1): Show CTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02451.hp2 others(17): Show HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp1 HG02896.hp2 HG02965.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03516.hp1 HG06807.hp2 NA18944.hp2 NA18988.hp2 NA19074.hp1 NA19083.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007	a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0047 others(9): Show a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0047 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0130 a0001c0001t0002g0138 a0001c0001t0006g0027 a0001c0001t0007g0012 a0001c0001t0007g0048 a0001c0001t0007g0148 a0001c0001t0007g0149	20	428	0.0467	8	c.-43 others(19): Show c.-4323_-4322insTGTGTGTG	HTRA4	ENSG00000169495.5	transcript	ENST00000302495.5	protein_coding		4286		chr8	TogoVar
HTRA4_chr8_38969228_38993663	38981076	T T	TTTTTTTT others(1): Show TTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG02040.hp1 others(6): Show HG00438.hp1 HG00558.hp2 HG02040.hp1 NA18612.hp2 NA18985.hp2 NA18989.hp2 NA19006.hp2 NA19080.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0002 a0001c0001t0005 a0001c0001t0015	a0001c0001t0002g0023 a0001c0001t0002g0101 a0001c0001t0002g0121 others(5): Show a0001c0001t0002g0023 a0001c0001t0002g0101 a0001c0001t0002g0121 a0001c0001t0002g0162 a0001c0001t0005g0023 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0015g0023	9	428	0.0210	8	c.100 others(25): Show c.1000-570_1000-569insGTTTTTTT	HTRA4	ENSG00000169495.5	transcript	ENST00000302495.5	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
HTT_chr4_3069681_3248957	3083526	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18939.hp2 NA18950.hp2 others(4): Show HG03704.hp2 NA18939.hp2 NA18950.hp2 NA18963.hp1 NA18989.hp2 NA19082.hp1 NA19087.hp2	a0002 a0005 a0011 a0002 a0005 a0011	a0002c0001 a0005c0004 a0011c0028 a0002c0001 a0005c0004 a0011c0028	a0002c0001t0002 a0002c0001t0024 a0005c0004t0002 others(1): Show a0002c0001t0002 a0002c0001t0024 a0005c0004t0002 a0011c0028t0001	a0002c0001t0002g0237 a0002c0001t0002g0241 a0002c0001t0002g0281 others(4): Show a0002c0001t0002g0237 a0002c0001t0002g0241 a0002c0001t0002g0281 a0002c0001t0002g0282 a0002c0001t0024g0238 a0005c0004t0002g0239 a0011c0028t0001g0240	7	294	0.0238	8	c.264 others(25): Show c.264-3408_264-3407insTATATATA	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3138065	G G	GTTCCTTC others(1): Show GTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18956.hp2 NA18968.hp2 others(2): Show NA18954.hp1 NA18956.hp2 NA18968.hp2 NA18980.hp2 NA19087.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0015 a0001c0002 a0006c0015	a0001c0002t0001 a0006c0015t0001 a0001c0002t0001 a0006c0015t0001	a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0172 others(2): Show a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0176 a0006c0015t0001g0162	5	294	0.0170	8	c.279 others(27): Show c.2798+1767_2798+1774dupCTTCCTTC	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	21/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
HUNK_chr21_31868020_32009064	31900446	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp2 HG01257.hp1 others(14): Show HG00140.hp1 HG01081.hp2 HG01257.hp1 HG01258.hp2 HG01952.hp1 HG02148.hp2 HG02602.hp1 HG02622.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG03471.hp1 HG03540.hp1 HG03927.hp1 HG04115.hp2 NA18961.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0012 a0001c0013 a0002c0003	a0001c0001t0001 a0001c0001t0012 a0001c0001t0028 others(9): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0028 a0001c0002t0002 a0001c0002t0021 a0001c0002t0070 a0001c0007t0005 a0001c0012t0067 a0001c0013t0029 a0002c0003t0003 a0002c0003t0004 a0002c0003t0040	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0069 others(14): Show a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0322 a0001c0001t0012g0067 a0001c0001t0028g0230 a0001c0002t0002g0167 a0001c0002t0021g0246 a0001c0002t0070g0224 a0001c0007t0005g0082 a0001c0007t0005g0083 a0001c0007t0005g0085 a0001c0012t0067g0086 a0001c0013t0029g0084 a0002c0003t0003g0151 a0002c0003t0004g0291 a0002c0003t0040g0141	17	328	0.0518	8	c.262 others(27): Show c.262-23996_262-23989dupCACACACA	HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
HUNK_chr21_31868020_32009064	31917695	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03130.hp2 NA18747.hp2 others(10): Show HG02165.hp1 HG03130.hp2 NA18747.hp2 NA18940.hp2 NA18945.hp2 NA18969.hp2 NA18971.hp1 NA18980.hp1 NA18982.hp1 NA19057.hp1 NA19065.hp2 NA19072.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0015 others(1): Show a0001c0001 a0001c0002 a0001c0015 a0002c0003	a0001c0001t0001 a0001c0001t0020 a0001c0001t0068 others(5): Show a0001c0001t0001 a0001c0001t0020 a0001c0001t0068 a0001c0002t0002 a0001c0015t0050 a0002c0003t0003 a0002c0003t0004 a0002c0003t0019	a0001c0001t0001g0176 a0001c0001t0001g0245 a0001c0001t0001g0306 others(10): Show a0001c0001t0001g0176 a0001c0001t0001g0245 a0001c0001t0001g0306 a0001c0001t0020g0191 a0001c0001t0068g0163 a0001c0002t0002g0199 a0001c0002t0002g0249 a0001c0002t0002g0308 a0001c0015t0050g0287 a0002c0003t0003g0186 a0002c0003t0003g0250 a0002c0003t0004g0307 a0002c0003t0019g0315	13	328	0.0396	8	c.262 others(25): Show c.262-6718_262-6711dupACACACAC	HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
HUNK_chr21_31868020_32009064	31949575	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02965.hp1 others(2): Show HG02451.hp2 HG02572.hp1 HG02965.hp1 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 others(2): Show a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0017 a0001c0002t0023	a0001c0002t0005g0243 a0001c0002t0006g0073 a0001c0002t0007g0046 others(2): Show a0001c0002t0005g0243 a0001c0002t0006g0073 a0001c0002t0007g0046 a0001c0002t0017g0098 a0001c0002t0023g0226	5	328	0.0152	8	c.746 others(25): Show c.746+3416_746+3423dupACACACAC	HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
HUNK_chr21_31868020_32009064	31958285	A A	ACTTTCTT others(1): Show ACTTTCTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00735.hp2 others(41): Show HG00140.hp1 HG00423.hp1 HG00735.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG02015.hp2 HG02027.hp1 HG02074.hp2 HG02155.hp2 HG02451.hp2 HG02698.hp1 HG02809.hp1 HG02886.hp2 HG02965.hp1 HG03098.hp2 HG03139.hp1 HG03239.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG04199.hp1 NA18940.hp2 NA18941.hp1 NA18945.hp1 NA18945.hp2 NA18959.hp2 NA18963.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19057.hp1 NA19065.hp1 NA19074.hp1 NA19081.hp1 NA19082.hp2 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0001c0008 others(4): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0002c0009 a0005c0024 a0006c0016	a0001c0001t0001 a0001c0001t0062 a0001c0001t0069 others(16): Show a0001c0001t0001 a0001c0001t0062 a0001c0001t0069 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0016 a0001c0002t0017 a0001c0002t0038 a0001c0002t0058 a0001c0002t0071 a0001c0008t0007 a0002c0003t0003 a0002c0003t0004 a0002c0003t0019 a0002c0003t0040 a0002c0009t0025 a0005c0024t0016 a0006c0016t0052	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0095 others(41): Show a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0095 a0001c0001t0001g0105 a0001c0001t0001g0118 a0001c0001t0001g0263 a0001c0001t0062g0059 a0001c0001t0069g0024 a0001c0002t0002g0132 a0001c0002t0002g0174 a0001c0002t0002g0179 a0001c0002t0002g0201 a0001c0002t0002g0249 a0001c0002t0002g0308 a0001c0002t0002g0314 a0001c0002t0002g0317 a0001c0002t0005g0243 a0001c0002t0007g0046 a0001c0002t0016g0318 a0001c0002t0017g0098 a0001c0002t0038g0147 a0001c0002t0058g0158 a0001c0002t0071g0326 a0001c0008t0007g0264 a0001c0008t0007g0272 a0002c0003t0003g0107 a0002c0003t0003g0258 a0002c0003t0003g0269 a0002c0003t0003g0309 a0002c0003t0003g0316 a0002c0003t0004g0116 a0002c0003t0004g0117 a0002c0003t0004g0139 a0002c0003t0004g0192 a0002c0003t0004g0225 a0002c0003t0004g0244 a0002c0003t0004g0255 a0002c0003t0004g0307 a0002c0003t0019g0305 a0002c0003t0019g0315 a0002c0003t0040g0141 a0002c0009t0025g0033 a0005c0024t0016g0302 a0006c0016t0052g0193	44	328	0.1342	8	c.747 others(23): Show c.747-541_747-534dupCTTTCTTT	HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
HUNK_chr21_31868020_32009064	31990517	C C	CTTTATTT others(1): Show CTTTATTTA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01109.hp1 HG01255.hp2 others(14): Show HG00609.hp2 HG01109.hp1 HG01255.hp2 HG01258.hp1 HG01891.hp2 HG01978.hp2 HG02602.hp2 HG02630.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp2 HG03471.hp2 NA19240.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0015 a0006c0016	a0001c0001t0012 a0001c0002t0005 a0001c0002t0006 others(9): Show a0001c0001t0012 a0001c0002t0005 a0001c0002t0006 a0001c0004t0011 a0001c0005t0010 a0001c0005t0041 a0001c0006t0002 a0001c0006t0007 a0001c0008t0031 a0001c0008t0032 a0001c0015t0050 a0006c0016t0052	a0001c0001t0012g0070 a0001c0002t0005g0030 a0001c0002t0006g0027 others(14): Show a0001c0001t0012g0070 a0001c0002t0005g0030 a0001c0002t0006g0027 a0001c0002t0006g0028 a0001c0004t0011g0016 a0001c0004t0011g0025 a0001c0004t0011g0077 a0001c0004t0011g0298 a0001c0005t0010g0052 a0001c0005t0010g0296 a0001c0005t0041g0227 a0001c0006t0002g0319 a0001c0006t0007g0310 a0001c0008t0031g0064 a0001c0008t0032g0065 a0001c0015t0050g0287 a0006c0016t0052g0193	17	328	0.0518	8	c.130 others(25): Show c.1305+376_1305+383dupTATTTATT	HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
HUNK_chr21_31868020_32009064	32001653	T T	TTGTGTGT others(1): Show TTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp1 HG02109.hp1 HG02257.hp1 others(3): Show HG01433.hp1 HG02109.hp1 HG02257.hp1 HG02965.hp1 HG03195.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0014 a0001c0022 a0001c0002 a0001c0014 a0001c0022	a0001c0002t0017 a0001c0002t0023 a0001c0002t0036 others(2): Show a0001c0002t0017 a0001c0002t0023 a0001c0002t0036 a0001c0014t0023 a0001c0022t0017	a0001c0002t0017g0098 a0001c0002t0017g0155 a0001c0002t0023g0226 others(3): Show a0001c0002t0017g0098 a0001c0002t0017g0155 a0001c0002t0023g0226 a0001c0002t0036g0146 a0001c0014t0023g0007 a0001c0022t0017g0020	6	328	0.0183	8	c.24 others(19): Show c.2482_*2489dupTGTGTGTG	HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	11/11	2490	INFO_REALIGN_3_PRIME	chr21	TogoVar
HUS1B_chr6_650939_662100	651656	A A	AAAATAAA others(1): Show AAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02896.hp2 NA18957.hp2 others(11): Show HG02135.hp1 HG02896.hp2 NA18957.hp2 NA18967.hp1 NA18968.hp1 NA18972.hp2 NA18982.hp1 NA18989.hp2 NA19002.hp1 NA19010.hp1 NA19065.hp1 NA19065.hp2 NA19081.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0000 a0003c0003t0001g0000 a0001c0001t0001g0000 a0003c0003t0001g0000	14	432	0.0324	8	c.44 others(19): Show c.4444_*4451dupATTTATTT	HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding		4282		chr6	TogoVar
HUWE1_chrX_53527096_53691719	53538722	A A	ACTCTCTC others(1): Show ACTCTCTCT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0101 a0001c0001t0001g0102	2	214	0.0094	8	c.118 others(27): Show c.11878+112_11878+113insAGAGAGAG	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	76/83			chrX	TogoVar
HUWE1_chrX_53527096_53691719	53542845	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00597.hp1 others(4): Show HG00438.hp1 HG00558.hp1 HG00597.hp1 HG03017.hp1 HG03491.hp1 NA18949.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 others(4): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0115 a0001c0001t0002g0149 a0001c0001t0004g0193 a0001c0001t0004g0198	7	214	0.0327	8	c.113 others(27): Show c.11380-314_11380-307dupCACACACA	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	73/83			chrX	TogoVar
HUWE1_chrX_53527096_53691719	53566133	G G	GTGTATAT others(1): Show GTGTATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00558.hp2 others(20): Show HG00140.hp1 HG00280.hp1 HG00558.hp2 HG00597.hp2 HG00741.hp1 HG01109.hp1 HG01433.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02080.hp2 HG02809.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG04228.hp1 NA18940.hp1 NA18961.hp1 NA18993.hp2 NA19060.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0015 a0003c0016	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(10): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0003t0019 a0001c0004t0003 a0001c0006t0001 a0001c0006t0002 a0001c0015t0002 a0003c0016t0002	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0002t0002g0136 others(20): Show a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0002t0002g0136 a0001c0002t0002g0145 a0001c0002t0002g0156 a0001c0002t0002g0165 a0001c0002t0002g0175 a0001c0002t0002g0182 a0001c0002t0003g0023 a0001c0002t0005g0121 a0001c0002t0005g0122 a0001c0002t0005g0180 a0001c0002t0007g0209 a0001c0003t0001g0068 a0001c0003t0002g0162 a0001c0003t0002g0173 a0001c0003t0019g0213 a0001c0004t0003g0010 a0001c0004t0003g0011 a0001c0006t0001g0067 a0001c0006t0002g0148 a0001c0015t0002g0130 a0003c0016t0002g0119	23	214	0.1075	8	c.670 others(25): Show c.6708-895_6708-894insTATATACA	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	49/83			chrX	TogoVar
HUWE1_chrX_53527096_53691719	53566133	G G	GTGTGTAT others(1): Show GTGTGTATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	214	0.0047	8	c.670 others(25): Show c.6708-895_6708-894insTATACACA	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	49/83			chrX	TogoVar
HUWE1_chrX_53527096_53691719	53566133	G G	GTGTGTGT others(1): Show GTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19005.hp1 HG03139.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0088 a0001c0009t0001g0077 a0001c0001t0001g0088 a0001c0009t0001g0077	2	214	0.0094	8	c.670 others(25): Show c.6708-895_6708-894insTACACACA	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	49/83			chrX	TogoVar
HUWE1_chrX_53527096_53691719	53577457	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0008 a0001c0001t0011g0008	1	214	0.0047	8	c.571 others(25): Show c.5717-398_5717-391dupTTTTTTTT	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	43/83			chrX	TogoVar
HUWE1_chrX_53527096_53691719	53626216	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG02055.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0015 a0001c0008t0004 a0001c0001t0015 a0001c0008t0004	a0001c0001t0015g0062 a0001c0008t0004g0208 a0001c0001t0015g0062 a0001c0008t0004g0208	2	214	0.0094	8	c.149 others(25): Show c.1490-966_1490-959dupACACACAC	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	17/83			chrX	TogoVar
HUWE1_chrX_53527096_53691719	53688966	T T	TTTTCTTT others(1): Show TTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01069.hp1 HG01071.hp1 others(4): Show HG00438.hp1 HG01069.hp1 HG01071.hp1 HG02015.hp1 NA18906.hp2 NA19087.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0010 a0001c0001 a0001c0002 a0004c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0003 a0004c0010t0003	a0001c0001t0001g0074 a0001c0001t0001g0091 a0001c0001t0003g0038 others(4): Show a0001c0001t0001g0074 a0001c0001t0001g0091 a0001c0001t0003g0038 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0002t0003g0022 a0004c0010t0003g0061	7	214	0.0327	8	c.-26 others(19): Show c.-2641_-2640insGAAAGAAA	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding		2248		chrX	TogoVar
HYAL1_chr3_50294893_50308574	50304274	C C	CAAAAAAA others(1): Show CAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG00741.hp2 others(10): Show HG00140.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01952.hp1 HG02258.hp2 HG02886.hp2 HG03239.hp1 HG03834.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0003c0003t0001 a0001c0001t0001 a0001c0001t0003 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0003g0006 a0003c0003t0001g0011 a0001c0001t0001g0001 a0001c0001t0003g0006 a0003c0003t0001g0011	13	384	0.0339	8	c.-84 others(17): Show c.-841_-834dupTTTTTTTT	HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding		701		chr3	TogoVar
HYAL1_chr3_50294893_50308574	50304296	A A	AAAAAAAA others(1): Show AAAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01109.hp1 NA18941.hp1 others(4): Show HG00738.hp1 HG01109.hp1 NA18941.hp1 NA18942.hp2 NA18955.hp1 NA19011.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0001 a0001c0001t0001g0013	7	384	0.0182	8	c.-85 others(17): Show c.-856_-855insATTTTTTT	HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding		723		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304274	C C	CAAAAAAA others(1): Show CAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG00741.hp1 others(10): Show HG00140.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG02258.hp2 HG02886.hp1 HG03239.hp1 HG03834.hp1 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0002 a0001c0001t0001g0001 a0002c0002t0001g0002	13	378	0.0344	8	c.-50 others(19): Show c.-5087_-5080dupTTTTTTTT	HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding		4870		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304296	A A	AAAAAAAA others(1): Show AAAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 NA18941.hp2 NA18942.hp2 others(4): Show HG00738.hp1 NA18941.hp2 NA18942.hp2 NA18955.hp2 NA19011.hp1 NA19012.hp1 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	7	378	0.0185	8	c.-51 others(19): Show c.-5102_-5101insATTTTTTT	HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding		4892		chr3	TogoVar
HYAL4_chr7_123840169_123882481	123857665	G G	GTTTCTTT others(1): Show GTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01952.hp1 HG01952.hp2 others(8): Show HG01433.hp1 HG01952.hp1 HG01952.hp2 HG02109.hp1 HG02896.hp2 HG03098.hp1 HG03540.hp1 NA18747.hp1 NA18942.hp2 NA19002.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001 a0002c0005t0001 a0003c0003t0004	a0001c0001t0001g0078 a0001c0001t0001g0215 a0001c0001t0001g0228 others(6): Show a0001c0001t0001g0078 a0001c0001t0001g0215 a0001c0001t0001g0228 a0001c0001t0002g0227 a0001c0001t0003g0240 a0001c0001t0005g0217 a0002c0002t0001g0016 a0002c0005t0001g0016 a0003c0003t0004g0055	11	394	0.0279	8	c.-52 others(25): Show c.-52+9510_-52+9511insCTTTCTTT	HYAL4	ENSG00000106302.10	transcript	ENST00000223026.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
HYAL4_chr7_123840169_123882481	123857669	G G	GTTTCTTT others(1): Show GTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01346.hp2 HG02257.hp2 others(6): Show HG00733.hp2 HG01346.hp2 HG02257.hp2 HG03688.hp1 HG03704.hp2 NA18942.hp1 NA19010.hp2 NA19054.hp2 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0007 a0003c0003t0004 a0001c0001t0001 a0001c0001t0007 a0003c0003t0004	a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 others(6): Show a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0007g0255 a0001c0001t0007g0256 a0003c0003t0004g0189	9	394	0.0228	8	c.-52 others(25): Show c.-52+9568_-52+9575dupTTTCTTTC	HYAL4	ENSG00000106302.10	transcript	ENST00000223026.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
HYAL4_chr7_123840169_123882481	123857669	G G	GTTTGTTT others(1): Show GTTTGTTTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01074.hp1 others(7): Show HG01069.hp1 HG01071.hp1 HG01074.hp1 HG02258.hp1 HG02559.hp2 NA18960.hp2 NA18964.hp2 NA18991.hp1 NA19090.hp1 NA20805.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0003 a0006c0008t0004 a0001c0001t0001 a0001c0001t0003 a0006c0008t0004	a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0149 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0003g0105 a0006c0008t0004g0148	10	394	0.0254	8	c.-52 others(25): Show c.-52+9514_-52+9515insGTTTCTTT	HYAL4	ENSG00000106302.10	transcript	ENST00000223026.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
HYAL4_chr7_123840169_123882481	123857685	C C	CTTTGTTT others(1): Show CTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01243.hp1 HG01256.hp1 others(1): Show HG00733.hp1 HG01243.hp1 HG01256.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0051 a0001c0001t0001g0250 a0001c0001t0001g0251	4	394	0.0102	8	c.-52 others(25): Show c.-52+9530_-52+9531insGTTTGTTT	HYAL4	ENSG00000106302.10	transcript	ENST00000223026.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
HYCC1_chr7_22929211_23019130	23002164	A A	ATACACAA others(1): Show ATACACAAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG03098.hp1 HG02145.hp2 HG02486.hp1 HG03098.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0080 a0003c0003t0075 a0003c0003t0081 a0001c0001t0080 a0003c0003t0075 a0003c0003t0081	a0001c0001t0080g0053 a0003c0003t0075g0051 a0003c0003t0081g0050 a0001c0001t0080g0053 a0003c0003t0075g0051 a0003c0003t0081g0050	3	386	0.0078	8	c.-28 others(27): Show c.-28-11026_-28-11025insATTGTGTA	HYCC1	ENSG00000122591.13	transcript	ENST00000432176.7	protein_coding	1/10			chr7	TogoVar
HYCC1_chr7_22929211_23019130	23016499	G G	GCACACAC others(1): Show GCACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00642.hp1 others(43): Show HG00438.hp1 HG00558.hp1 HG00642.hp1 HG00733.hp1 HG01074.hp1 HG01099.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02630.hp2 HG03139.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04228.hp1 NA18946.hp1 NA18961.hp2 NA18965.hp1 NA18966.hp1 NA18978.hp2 NA18992.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19066.hp1 NA19067.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA19091.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 others(17): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0011 a0001c0002t0022 a0001c0002t0037 a0001c0002t0038 a0001c0002t0084 a0001c0002t0085 a0001c0002t0095 a0001c0002t0096 a0001c0002t0103 a0001c0002t0105 a0001c0002t0106 a0001c0002t0107 a0001c0002t0111 a0001c0002t0112 a0004c0005t0001	a0001c0001t0002g0297 a0001c0001t0009g0178 a0001c0002t0001g0241 others(39): Show a0001c0001t0002g0297 a0001c0001t0009g0178 a0001c0002t0001g0241 a0001c0002t0001g0248 a0001c0002t0001g0252 a0001c0002t0005g0019 a0001c0002t0005g0024 a0001c0002t0005g0030 a0001c0002t0005g0272 a0001c0002t0005g0276 a0001c0002t0005g0277 a0001c0002t0005g0281 a0001c0002t0005g0282 a0001c0002t0005g0284 a0001c0002t0005g0286 a0001c0002t0005g0287 a0001c0002t0005g0288 a0001c0002t0005g0289 a0001c0002t0005g0290 a0001c0002t0005g0292 a0001c0002t0005g0294 a0001c0002t0005g0302 a0001c0002t0007g0204 a0001c0002t0007g0219 a0001c0002t0011g0018 a0001c0002t0011g0299 a0001c0002t0011g0301 a0001c0002t0022g0268 a0001c0002t0037g0274 a0001c0002t0038g0283 a0001c0002t0038g0285 a0001c0002t0084g0260 a0001c0002t0085g0197 a0001c0002t0095g0227 a0001c0002t0096g0232 a0001c0002t0103g0280 a0001c0002t0105g0035 a0001c0002t0106g0034 a0001c0002t0107g0225 a0001c0002t0111g0247 a0001c0002t0112g0304 a0004c0005t0001g0016	46	386	0.1192	8	c.-26 others(19): Show c.-2604_-2603insTGTGTGTG	HYCC1	ENSG00000122591.13	transcript	ENST00000432176.7	protein_coding		2370		chr7	TogoVar
HYCC2_chr2_200968718_201076671	201013526	C C	CCAAACAC others(1): Show CCAAACACA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG06807.hp2 HG02965.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0149 a0001c0001t0017g0150 a0001c0001t0017g0149 a0001c0001t0017g0150	2	176	0.0114	8	c.334 others(25): Show c.334-2062_334-2055dupTGTGTTTG	HYCC2	ENSG00000155744.10	transcript	ENST00000681958.1	protein_coding	5/12			chr2	TogoVar
HYCC2_chr2_200968718_201076671	201033196	T T	TGTGTGAG others(1): Show TGTGTGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00140.hp1 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0042 a0001c0001t0007 a0001c0001t0042	a0001c0001t0007g0077 a0001c0001t0042g0060 a0001c0001t0007g0077 a0001c0001t0042g0060	2	176	0.0114	8	c.-30 others(25): Show c.-30-9158_-30-9157insTCTCACAC	HYCC2	ENSG00000155744.10	transcript	ENST00000681958.1	protein_coding	2/12			chr2	TogoVar
HYCC2_chr2_200968718_201076671	201033196	T T	TGTGTGTG others(1): Show TGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03516.hp1 HG02896.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0021 a0001c0001t0003g0036 a0001c0001t0002g0021 a0001c0001t0003g0036	2	176	0.0114	8	c.-30 others(25): Show c.-30-9158_-30-9157insTCACACAC	HYCC2	ENSG00000155744.10	transcript	ENST00000681958.1	protein_coding	2/12			chr2	TogoVar
HYCC2_chr2_200968718_201076671	201047445	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp2 HG02886.hp1 others(8): Show HG02615.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03195.hp1 HG03486.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0031 a0001c0001t0043 others(1): Show a0001c0001t0005 a0001c0001t0031 a0001c0001t0043 a0002c0002t0005	a0001c0001t0005g0019 a0001c0001t0005g0147 a0001c0001t0005g0148 others(8): Show a0001c0001t0005g0019 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0031g0091 a0001c0001t0043g0146 a0002c0002t0005g0151	11	176	0.0625	8	c.-12 others(27): Show c.-128-1860_-128-1853dupATATATAT	HYCC2	ENSG00000155744.10	transcript	ENST00000681958.1	protein_coding	1/12			chr2	TogoVar
HYCC2_chr2_200968718_201076671	201069579	C C	CACACACA others(1): Show CACACACAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0147 a0001c0001t0005g0148	2	176	0.0114	8	c.-12 others(27): Show c.-129+2030_-129+2031insTTGTGTGT	HYCC2	ENSG00000155744.10	transcript	ENST00000681958.1	protein_coding	1/12			chr2	TogoVar
HYDIN_chr16_70797084_71235722	70849069	A A	ATGGGGGC others(1): Show ATGGGGGCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp2 HG02647.hp2 HG02451.hp1 HG02622.hp2 HG02647.hp2	a0001 a0030 a0031 a0001 a0030 a0031	a0001c0062 a0030c0069 a0031c0070 a0001c0062 a0030c0069 a0031c0070	a0001c0062t0013 a0030c0069t0013 a0031c0070t0001 a0001c0062t0013 a0030c0069t0013 a0031c0070t0001	a0001c0062t0013g0104 a0030c0069t0013g0068 a0031c0070t0001g0042 a0001c0062t0013g0104 a0030c0069t0013g0068 a0031c0070t0001g0042	3	174	0.0172	8	c.128 others(27): Show c.12873+649_12873+656dupAGCCCCCA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	75/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70951248	C C	CAGAGAGA others(1): Show CAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03195.hp2 HG02965.hp1 HG03195.hp2	a0001 a0007 a0001 a0007	a0001c0048 a0007c0007 a0001c0048 a0007c0007	a0001c0048t0003 a0007c0007t0007 a0001c0048t0003 a0007c0007t0007	a0001c0048t0003g0139 a0007c0007t0007g0168 a0001c0048t0003g0139 a0007c0007t0007g0168	2	174	0.0115	8	c.653 others(27): Show c.6531+1165_6531+1172dupCTCTCTCT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	41/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70979922	T T	TCAAACAA others(1): Show TCAAACAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0006 a0012c0013t0006	a0012c0013t0006g0049 a0012c0013t0006g0050 a0012c0013t0006g0049 a0012c0013t0006g0050	2	174	0.0115	8	c.451 others(25): Show c.4511-889_4511-882dupTTTGTTTG	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	29/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	71061861	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02486.hp1 HG02486.hp2 others(5): Show HG00639.hp2 HG02486.hp1 HG02486.hp2 HG03130.hp1 HG03669.hp1 NA18978.hp1 NA18986.hp2 NA19043.hp2	a0001 a0002 a0010 others(3): Show a0001 a0002 a0010 a0011 a0025 a0041	a0001c0002 a0002c0010 a0002c0043 others(4): Show a0001c0002 a0002c0010 a0002c0043 a0010c0034 a0011c0028 a0025c0061 a0041c0089	a0001c0002t0002 a0002c0010t0017 a0002c0043t0002 others(4): Show a0001c0002t0002 a0002c0010t0017 a0002c0043t0002 a0010c0034t0004 a0011c0028t0001 a0025c0061t0013 a0041c0089t0005	a0001c0002t0002g0019 a0002c0010t0017g0149 a0002c0010t0017g0150 others(5): Show a0001c0002t0002g0019 a0002c0010t0017g0149 a0002c0010t0017g0150 a0002c0043t0002g0011 a0010c0034t0004g0063 a0011c0028t0001g0134 a0025c0061t0013g0117 a0041c0089t0005g0118	8	174	0.0460	8	c.237 others(25): Show c.2376+300_2376+307dupACACACAC	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	17/85			chr16	TogoVar
HYI_chr1_43445989_43458931	43455965	C C	CTTTTTTT others(1): Show CTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02148.hp2 HG02257.hp1 others(6): Show HG02015.hp1 HG02148.hp2 HG02257.hp1 HG02647.hp2 NA18959.hp2 NA18963.hp2 NA18975.hp1 NA19067.hp2 NA19080.hp2	a0001 a0011 a0001 a0011	a0001c0002 a0001c0011 a0011c0010 a0001c0002 a0001c0011 a0011c0010	a0001c0002t0001 a0001c0002t0012 a0001c0011t0001 others(1): Show a0001c0002t0001 a0001c0002t0012 a0001c0011t0001 a0011c0010t0001	a0001c0002t0001g0002 a0001c0002t0012g0039 a0001c0011t0001g0029 others(1): Show a0001c0002t0001g0002 a0001c0002t0012g0039 a0001c0011t0001g0029 a0011c0010t0001g0028	9	422	0.0213	8	c.-21 others(19): Show c.-2173_-2172insAAAAAAAA	HYI	ENSG00000178922.18	transcript	ENST00000372430.9	protein_coding		2035		chr1	TogoVar
HYKK_chr15_78502577_78541645	78514889	C C	CCTCTCTC others(1): Show CCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp1 HG02965.hp1 others(5): Show HG02886.hp2 HG02895.hp1 HG02965.hp1 HG03139.hp1 HG03486.hp1 NA18977.hp2 NA19066.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0022 a0001c0001t0051 a0001c0001t0063 others(3): Show a0001c0001t0022 a0001c0001t0051 a0001c0001t0063 a0001c0002t0010 a0001c0002t0045 a0001c0002t0046	a0001c0001t0022g0028 a0001c0001t0022g0267 a0001c0001t0051g0266 others(4): Show a0001c0001t0022g0028 a0001c0001t0022g0267 a0001c0001t0051g0266 a0001c0001t0063g0284 a0001c0002t0010g0268 a0001c0002t0045g0088 a0001c0002t0046g0120	8	412	0.0194	8	c.338 others(21): Show c.338-66_338-59dupCTCTCTCT	HYKK	ENSG00000188266.14	transcript	ENST00000388988.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
HYKK_chr15_78502577_78541645	78514908	C C	CTCTCTAT others(1): Show CTCTCTATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03834.hp2 HG04228.hp2 HG03831.hp2 HG03834.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0010 a0001c0002t0002 a0001c0002t0010	a0001c0002t0002g0092 a0001c0002t0010g0017 a0001c0002t0002g0092 a0001c0002t0010g0017	3	412	0.0073	8	c.338 others(21): Show c.338-59_338-58insCTCTATAT	HYKK	ENSG00000188266.14	transcript	ENST00000388988.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
HYKK_chr15_78502577_78541645	78514908	C C	CTCTCTCT others(1): Show CTCTCTCTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03927.hp1 HG04204.hp1 others(2): Show HG02622.hp1 HG03927.hp1 HG04204.hp1 NA18986.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0010 a0001c0002t0018 a0003c0004t0005 a0001c0002t0010 a0001c0002t0018 a0003c0004t0005	a0001c0002t0010g0093 a0001c0002t0010g0114 a0001c0002t0010g0118 others(2): Show a0001c0002t0010g0093 a0001c0002t0010g0114 a0001c0002t0010g0118 a0001c0002t0018g0271 a0003c0004t0005g0305	5	412	0.0121	8	c.338 others(21): Show c.338-59_338-58insCTCTCTAT	HYKK	ENSG00000188266.14	transcript	ENST00000388988.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
HYKK_chr15_78502577_78541645	78520220	C C	CTTTATTT others(1): Show CTTTATTTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01358.hp2 HG02735.hp2 others(12): Show HG00408.hp1 HG01358.hp2 HG02735.hp2 HG02886.hp2 HG02965.hp1 HG03139.hp1 HG03486.hp1 NA18943.hp1 NA18953.hp1 NA18960.hp1 NA18983.hp2 NA18989.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0013 a0001c0001t0022 others(3): Show a0001c0001t0012 a0001c0001t0013 a0001c0001t0022 a0001c0001t0063 a0001c0001t0069 a0001c0002t0002	a0001c0001t0012g0024 a0001c0001t0012g0163 a0001c0001t0012g0164 others(10): Show a0001c0001t0012g0024 a0001c0001t0012g0163 a0001c0001t0012g0164 a0001c0001t0012g0165 a0001c0001t0012g0214 a0001c0001t0013g0166 a0001c0001t0013g0213 a0001c0001t0013g0340 a0001c0001t0022g0028 a0001c0001t0022g0267 a0001c0001t0063g0284 a0001c0001t0069g0215 a0001c0002t0002g0129	15	412	0.0364	8	c.477 others(25): Show c.477+5141_477+5148dupATTTATTT	HYKK	ENSG00000188266.14	transcript	ENST00000388988.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
IARS1_chr9_92205207_92298697	92229358	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG01109.hp2 others(44): Show HG00099.hp2 HG00323.hp2 HG01109.hp2 HG01257.hp1 HG01358.hp2 HG01516.hp2 HG01952.hp1 HG02056.hp1 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp2 HG06807.hp2 NA18522.hp1 NA18940.hp2 NA18948.hp1 NA18956.hp1 NA18969.hp1 NA18977.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19056.hp2 NA19090.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0003t0001 a0002c0002t0002 a0002c0005t0002	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(43): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0081 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0005g0317 a0001c0001t0010g0101 a0001c0003t0001g0007 a0001c0003t0001g0055 a0001c0003t0001g0097 a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 a0002c0002t0002g0265 a0002c0005t0002g0167 a0002c0005t0002g0268 a0002c0005t0002g0269 a0002c0005t0002g0272 a0002c0005t0002g0276	47	338	0.1391	8	c.328 others(25): Show c.3284-240_3284-233dupGTGTGTGT	IARS1	ENSG00000196305.19	transcript	ENST00000443024.7	protein_coding	30/33			chr9	TogoVar
IARS1_chr9_92205207_92298697	92282860	A A	ATATATTT others(1): Show ATATATTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02257.hp2 HG02818.hp2 others(3): Show HG01255.hp1 HG02257.hp2 HG02818.hp2 HG02970.hp1 HG03195.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0037 a0001c0001t0004g0036 a0001c0001t0004g0038 others(3): Show a0001c0001t0001g0037 a0001c0001t0004g0036 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041	6	338	0.0178	8	c.598 others(25): Show c.598-1968_598-1967insAAAATATA	IARS1	ENSG00000196305.19	transcript	ENST00000443024.7	protein_coding	6/33			chr9	TogoVar
IARS1_chr9_92205207_92298697	92292171	C C	CCACACTC others(1): Show CCACACTCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG01168.hp1 others(18): Show HG00280.hp2 HG00642.hp1 HG01168.hp1 HG01169.hp2 HG01346.hp2 HG02015.hp2 HG02165.hp1 HG02486.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 NA18951.hp2 NA18963.hp2 NA18973.hp2 NA18980.hp1 NA18984.hp1 NA18995.hp2 NA19075.hp2 NA19078.hp1 NA19091.hp1	a0002 a0003 a0002 a0003	a0002c0004 a0003c0006 a0002c0004 a0003c0006	a0002c0004t0003 a0002c0004t0006 a0002c0004t0007 others(1): Show a0002c0004t0003 a0002c0004t0006 a0002c0004t0007 a0003c0006t0003	a0002c0004t0003g0018 a0002c0004t0003g0019 a0002c0004t0003g0020 others(18): Show a0002c0004t0003g0018 a0002c0004t0003g0019 a0002c0004t0003g0020 a0002c0004t0003g0021 a0002c0004t0003g0023 a0002c0004t0003g0024 a0002c0004t0003g0025 a0002c0004t0003g0026 a0002c0004t0003g0027 a0002c0004t0003g0028 a0002c0004t0003g0030 a0002c0004t0003g0031 a0002c0004t0003g0032 a0002c0004t0003g0033 a0002c0004t0003g0034 a0002c0004t0003g0035 a0002c0004t0006g0015 a0002c0004t0007g0022 a0003c0006t0003g0016 a0003c0006t0003g0017 a0003c0006t0003g0029	21	338	0.0621	8	c.-8+ others(23): Show c.-8+1432_-8+1439dupTGAGTGTG	IARS1	ENSG00000196305.19	transcript	ENST00000443024.7	protein_coding	1/33			chr9	TogoVar
IARS1_chr9_92205207_92298697	92296712	C C	CTTTTTTT others(1): Show CTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG01255.hp1 others(19): Show HG01074.hp2 HG01081.hp2 HG01255.hp1 HG01433.hp1 HG01517.hp2 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02486.hp2 HG02630.hp1 HG02723.hp1 HG02738.hp1 HG02818.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp2 HG03710.hp1 HG03927.hp1 NA18906.hp2 NA18973.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0019 others(1): Show a0001c0001 a0002c0002 a0004c0019 a0005c0007	a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 a0004c0019t0001 a0005c0007t0002	a0001c0001t0001g0037 a0001c0001t0001g0241 a0001c0001t0001g0247 others(19): Show a0001c0001t0001g0037 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0310 a0001c0001t0004g0036 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0159 a0002c0002t0002g0273 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0316 a0004c0019t0001g0248 a0005c0007t0002g0170 a0005c0007t0002g0171	22	338	0.0651	8	c.-31 others(19): Show c.-3110_-3109insAAAAAAAA	IARS1	ENSG00000196305.19	transcript	ENST00000443024.7	protein_coding		3016		chr9	TogoVar

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