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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GNAS_chr20_58834748_58916192	58915950	GAACCTGG others(36): Show GAACCTGGCTGTATCTTTTCAATAACACTATTATGCATACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0147 a0004c0007t0002g0147	1	302	0.0033	-43	c.62 others(54): Show c.6213_*6255delAACCTGGCTGTATCTTTTCAATAACACTATTATG CATACACAC		GNAS	ENSG00000087460.29	transcript	ENST00000371075.7	protein_coding					4759		chr20	TogoVar
GNAS_chr20_58847716_58916192	58915950	GAACCTGG others(36): Show GAACCTGGCTGTATCTTTTCAATAACACTATTATGCATACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0264 a0002c0003t0002g0264	1	302	0.0033	-43	c.51 others(54): Show c.5122_*5164delAACCTGGCTGTATCTTTTCAATAACACTATTATG CATACACAC		GNAS	ENSG00000087460.29	transcript	ENST00000371100.9	protein_coding					4759		chr20	TogoVar
GNAS_chr20_58886421_58916192	58915950	GAACCTGG others(36): Show GAACCTGGCTGTATCTTTTCAATAACACTATTATGCATACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	432	0.0023	-43	c.51 others(54): Show c.5122_*5164delAACCTGGCTGTATCTTTTCAATAACACTATTATG CATACACAC		GNAS	ENSG00000087460.29	transcript	ENST00000371085.8	protein_coding					4759		chr20	TogoVar
GNRHR_chr4_67732118_67759388	67749737	CACTTTTA others(36): Show CACTTTTATATACGATACCTCCAAGACTTGAATTACTGTGCTCT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0150 a0003c0006t0006g0150	1	388	0.0026	-43	c.522 others(60): Show c.522+4034_522+4076delAGAGCACAGTAATTCAAGTCTTGGAGGT ATCGTATATAAAAGT		GNRHR	ENSG00000109163.7	transcript	ENST00000226413.5	protein_coding	1/2						chr4	TogoVar
GP6_chr19_55008705_55043264	55029331	TATATATA others(36): Show TATATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18979.hp1 NA19004.hp2 others(3): Show NA18955.hp1 NA18979.hp1 NA19004.hp2 NA19011.hp2 NA19057.hp1 NA19084.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0001 a0002c0004t0001g0099 a0002c0004t0001g0112 others(1): Show a0002c0004t0001g0001 a0002c0004t0001g0099 a0002c0004t0001g0112 a0002c0004t0001g0113	6	441	0.0136	-43	c.326 others(60): Show c.326-1512_326-1470delTATATATATATATATATATATATATATA TATATATATATATAT		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55029332	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00639.hp1 others(10): Show HG00140.hp1 HG00280.hp1 HG00639.hp1 HG01081.hp1 HG01168.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG04228.hp1 NA18995.hp1 NA19077.hp1 NA21309.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0086 a0002c0004t0001g0088 a0002c0004t0001g0090 others(10): Show a0002c0004t0001g0086 a0002c0004t0001g0088 a0002c0004t0001g0090 a0002c0004t0001g0091 a0002c0004t0001g0095 a0002c0004t0001g0096 a0002c0004t0001g0098 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0109 a0002c0004t0001g0110 a0002c0004t0001g0111 a0002c0004t0001g0121	13	441	0.0295	-43	c.326 others(60): Show c.326-1513_326-1471delATATATATATATATATATATATATATAT ATATATATATATATA		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55029334	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG01175.hp2 others(2): Show HG00099.hp1 HG00639.hp2 HG01175.hp2 HG01346.hp2 NA20805.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0087 a0002c0004t0001g0092 a0002c0004t0001g0094 others(2): Show a0002c0004t0001g0087 a0002c0004t0001g0092 a0002c0004t0001g0094 a0002c0004t0001g0097 a0002c0004t0001g0105	5	441	0.0113	-43	c.326 others(60): Show c.326-1515_326-1473delAAATATATATATATATATATATATATAT ATATATATATATATA		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55029336	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG01123.hp1 others(13): Show HG00140.hp2 HG00642.hp2 HG01123.hp1 HG01261.hp1 HG02080.hp1 HG02165.hp1 HG02280.hp1 HG02300.hp2 HG02683.hp2 NA18944.hp1 NA18988.hp1 NA18995.hp2 NA19064.hp1 NA19064.hp2 NA19085.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0001c0001t0001 a0002c0002t0001 a0002c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0137 a0001c0001t0001g0149 others(12): Show a0001c0001t0001g0007 a0001c0001t0001g0137 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0178 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0253 a0001c0001t0001g0254 a0002c0002t0001g0174 a0002c0004t0001g0093	16	441	0.0363	-43	c.326 others(60): Show c.326-1517_326-1475delAAAAATATATATATATATATATATATAT ATATATATATATATA		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55029338	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00597.hp2 others(63): Show HG00558.hp1 HG00558.hp2 HG00597.hp2 HG01069.hp2 HG01074.hp2 HG01192.hp2 HG01257.hp1 HG01261.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02165.hp2 HG02273.hp1 HG02451.hp2 HG02523.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG03098.hp1 HG03239.hp1 HG03239.hp2 HG03516.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG04199.hp2 NA18612.hp1 NA18945.hp1 NA18945.hp2 NA18952.hp2 NA18953.hp1 NA18963.hp2 NA18966.hp2 NA18970.hp1 NA18973.hp2 NA18977.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19043.hp2 NA19056.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19240.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0012 a0025 a0001 a0012 a0025	a0001c0001 a0001c0028 a0012c0014 others(1): Show a0001c0001 a0001c0028 a0012c0014 a0025c0026	a0001c0001t0001 a0001c0001t0007 a0001c0028t0001 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0028t0001 a0012c0014t0001 a0025c0026t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(59): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0074 a0001c0001t0001g0108 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0256 a0001c0001t0001g0278 a0001c0001t0001g0289 a0001c0001t0001g0295 a0001c0001t0001g0419 a0001c0001t0007g0027 a0001c0001t0007g0172 a0001c0001t0007g0207 a0001c0028t0001g0209 a0012c0014t0001g0190 a0012c0014t0001g0195 a0012c0014t0001g0232 a0025c0026t0001g0287	66	441	0.1497	-43	c.326 others(60): Show c.326-1519_326-1477delAAAAAAATATATATATATATATATATAT ATATATATATATATA		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55029340	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02132.hp1 HG02257.hp1 others(8): Show HG00673.hp2 HG02132.hp1 HG02257.hp1 HG02965.hp1 HG03130.hp2 HG03225.hp2 NA18940.hp2 NA18955.hp2 NA18974.hp2 NA19011.hp1 NA20752.hp2	a0001 a0011 a0024 a0001 a0011 a0024	a0001c0001 a0001c0020 a0011c0015 others(1): Show a0001c0001 a0001c0020 a0011c0015 a0024c0025	a0001c0001t0001 a0001c0020t0001 a0011c0015t0001 others(1): Show a0001c0001t0001 a0001c0020t0001 a0011c0015t0001 a0024c0025t0001	a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0182 others(8): Show a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0182 a0001c0001t0001g0200 a0001c0001t0001g0227 a0001c0001t0001g0321 a0001c0001t0001g0409 a0001c0020t0001g0167 a0011c0015t0001g0106 a0011c0015t0001g0383 a0024c0025t0001g0165	11	441	0.0249	-43	c.326 others(60): Show c.326-1521_326-1479delAAAAAAAAATATATATATATATATATAT ATATATATATATATA		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7						chr19	TogoVar
GPAT3_chr4_83531108_83610875	83562195	ATATAATA others(36): Show ATATAATATATATATATTATATATATATATAATATATATATAAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0331 a0001c0001t0005g0331	1	334	0.0030	-43	c.208 others(62): Show c.208+17594_208+17636delTATAATATATATATATTATATATATA TATAATATATATATAAT		GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11						chr4	TogoVar
GPC3_chrX_133530745_133990594	133661591	TCTCTCTC others(36): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp1 HG02257.hp2 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0126 a0001c0002t0002g0147 a0001c0002t0002g0126 a0001c0002t0002g0147	2	152	0.0132	-43	c.141 others(59): Show c.1413+96_1413+138delGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAG		GPC3	ENSG00000147257.16	transcript	ENST00000370818.8	protein_coding	6/7						chrX	TogoVar
GPIHBP1_chr8_143208218_143222170	143214526	GTGCCCCA others(36): Show GTGCCCCACCACACACAGCCCCTCCCTAGCCAGGGCCCCCAGCA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp2 HG02717.hp1 others(9): Show HG02109.hp2 HG02630.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02965.hp1 HG03041.hp1 HG03225.hp2 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0020 a0001c0001t0006 a0001c0001t0020	a0001c0001t0006g0005 a0001c0001t0006g0014 a0001c0001t0020g0005 a0001c0001t0006g0005 a0001c0001t0006g0014 a0001c0001t0020g0005	12	106	0.1132	-43	c.182 others(58): Show c.182-466_182-424delCTCCCTAGCCAGGGCCCCCAGCATGCCCCA CCACACACAGCCC		GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr8	TogoVar
GPR153_chr1_6242353_6266098	6259908	GTCTCCTG others(36): Show GTCTCCTGCAGGGCACTTAAAGCCCTGTCTTCTGCTGGGAAGTT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA20300.hp2 HG01884.hp2 NA20300.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0058 a0002c0004t0011g0062 a0002c0004t0011g0058 a0002c0004t0011g0062	2	374	0.0054	-43	c.-11 others(60): Show c.-110+874_-110+916delAACTTCCCAGCAGAAGACAGGGCTTTAA GTGCCCTGCAGGAGA		GPR153	ENSG00000158292.7	transcript	ENST00000377893.3	protein_coding	1/5						chr1	TogoVar
GPR45_chr2_105236743_105248467	105237326	CGGATCGT others(36): Show CGGATCGTCTTCACGCCTGATCTTGAGGATGGGAAAGGGAGACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02896.hp2 HG02615.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	412	0.0049	-43	c.-45 others(54): Show c.-4532_-4490delGGATCGTCTTCACGCCTGATCTTGAGGATGGGAA AGGGAGACA		GPR45	ENSG00000135973.3	transcript	ENST00000258456.3	protein_coding					4416		chr2	TogoVar
GPSM1_chr9_136322539_136364601	136355149	TGGGTGAC others(36): Show TGGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTG	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp2 HG02135.hp1 others(13): Show HG02004.hp1 HG02004.hp2 HG02135.hp1 HG02148.hp1 NA18939.hp1 NA18943.hp1 NA18951.hp1 NA18952.hp1 NA18966.hp2 NA18970.hp1 NA18982.hp1 NA18995.hp1 NA19004.hp2 NA19063.hp1 NA19068.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0002c0004t0003 a0001c0001t0003 a0002c0004t0003	a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0175 others(11): Show a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0180 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0221 a0001c0001t0003g0238 a0001c0001t0003g0271 a0001c0001t0003g0283 a0002c0004t0003g0332	16	400	0.0400	-43	c.145 others(60): Show c.1456-538_1456-496delGTGACACGTCCTGGGGGAGGGGTAGCCG GGTGCCGAGGGTGGG		GPSM1	ENSG00000160360.13	transcript	ENST00000440944.6	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
GPSM2_chr1_108871985_108939545	108873406	ATATATAT others(36): Show ATATATATACGTATATATATATACATATATATATATACGTATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02965.hp1 HG02818.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0019 a0002c0006t0010 a0002c0002t0019 a0002c0006t0010	a0002c0002t0019g0034 a0002c0006t0010g0021 a0002c0002t0019g0034 a0002c0006t0010g0021	2	260	0.0077	-43	c.-40 others(54): Show c.-4070_-4028delTATATATACGTATATATATATACATATATATATA TACGTATTT		GPSM2	ENSG00000121957.15	transcript	ENST00000264126.9	protein_coding					3578		chr1	TogoVar
GRB10_chr7_50585068_50787896	50773069	CAGAAGGT others(36): Show CAGAAGGTGAAAGGCATGTCTCACATGGTGGCAGACAAGAGAAG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	278	0.0036	-43	c.-21 others(62): Show c.-217+7515_-217+7557delCTTCTCTTGTCTGCCACCATGTGAGA CATGCCTTTCACCTTCT		GRB10	ENSG00000106070.20	transcript	ENST00000401949.6	protein_coding	2/18						chr7	TogoVar
GRIA2_chr4_157215728_157371075	157355726	TTATTTAT others(36): Show TTATTTATATATTTATTTATATATTTACATATATTAGTTATATA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	216	0.0046	-43	c.204 others(62): Show c.2044-4154_2044-4112delTTATATATTTACATATATTAGTTATA TATATTTATATATTTAT		GRIA2	ENSG00000120251.22	transcript	ENST00000264426.14	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
GRID2_chr4_92298966_93779566	92740672	CATAGATA others(36): Show CATAGATAGATAGATAGATGATAGATAGATAGATAGATAGATAG	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	34	0.0294	-43	c.244 others(64): Show c.244+150405_244+150447delGATAGATAGATAGATAGATAGATA GATAGATAGATAGATAGAT		GRID2	ENSG00000152208.13	transcript	ENST00000282020.9	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
GRID2_chr4_92298966_93779566	93257960	TACACACA others(36): Show TACACACAATATGTGTGTGTATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0028 a0001c0004t0007g0028	1	34	0.0294	-43	c.124 others(64): Show c.1245+19478_1245+19520delATATGTGTGTGTATATATATATAT ATATATATACACACACACA		GRID2	ENSG00000152208.13	transcript	ENST00000282020.9	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
GRIK4_chr11_120506748_120993906	120794095	GTGTTAGG others(36): Show GTGTTAGGGCTGAGAGCCGGGTGATGGTTACAGGTGAGGGAAGT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02896.hp1 HG03041.hp2 others(7): Show HG02486.hp2 HG02896.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp2 NA18948.hp1 NA19005.hp1 NA19011.hp2 NA19030.hp1 NA20300.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0012 a0008c0021	a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 others(7): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0004t0001 a0001c0004t0005 a0001c0012t0007 a0008c0021t0001	a0001c0001t0003g0017 a0001c0001t0008g0082 a0001c0001t0013g0032 others(7): Show a0001c0001t0003g0017 a0001c0001t0008g0082 a0001c0001t0013g0032 a0001c0002t0005g0010 a0001c0002t0007g0085 a0001c0002t0009g0093 a0001c0004t0001g0061 a0001c0004t0005g0054 a0001c0012t0007g0018 a0008c0021t0001g0110	10	128	0.0781	-43	c.83- others(58): Show c.83-8503_83-8461delCTGAGAGCCGGGTGATGGTTACAGGTGAGG GAAGTTGTTAGGG		GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	3/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
GRIK4_chr11_120506748_120993906	120794190	CTGAGAGC others(36): Show CTGAGAGCCGGGTGATGGTTACAGGTGAGGGAAGTTGTTAGGGT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03195.hp1 NA19043.hp1 HG02896.hp2 HG03195.hp1 NA19043.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0001c0009 a0007c0019 a0001c0002 a0001c0009 a0007c0019	a0001c0002t0002 a0001c0009t0012 a0007c0019t0022 a0001c0002t0002 a0001c0009t0012 a0007c0019t0022	a0001c0002t0002g0008 a0001c0009t0012g0002 a0007c0019t0022g0014 a0001c0002t0002g0008 a0001c0009t0012g0002 a0007c0019t0022g0014	3	128	0.0234	-43	c.83- others(58): Show c.83-8494_83-8452delGGGTGATGGTTACAGGTGAGGGAAGTTGTT AGGGTTGAGAGCC		GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	3/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
GRM4_chr6_34013643_34151087	34071878	CTACACAG others(36): Show CTACACAGCACACACAGACACACAATCACCACACACCACACAGA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00597.hp1 others(76): Show HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00609.hp1 HG00642.hp1 HG01069.hp2 HG01071.hp2 HG01167.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01978.hp2 HG02015.hp1 HG02027.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03654.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG04184.hp1 NA18522.hp1 NA18943.hp2 NA18963.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18974.hp2 NA18981.hp1 NA18982.hp1 NA18995.hp2 NA19009.hp2 NA19011.hp2 NA19043.hp2 NA19060.hp2 NA19065.hp1 NA19068.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0002c0010 a0003c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0003t0019 a0001c0003t0035 a0001c0003t0036 a0001c0004t0001 a0001c0004t0004 a0001c0004t0031 a0001c0007t0006 a0002c0010t0003 a0003c0013t0004	a0001c0001t0001g0005 a0001c0001t0001g0135 a0001c0001t0001g0137 others(75): Show a0001c0001t0001g0005 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0149 a0001c0001t0001g0176 a0001c0001t0002g0028 a0001c0001t0002g0065 a0001c0001t0002g0090 a0001c0001t0002g0109 a0001c0002t0001g0079 a0001c0002t0003g0140 a0001c0002t0004g0032 a0001c0002t0004g0096 a0001c0002t0004g0097 a0001c0002t0004g0099 a0001c0002t0004g0102 a0001c0002t0004g0106 a0001c0002t0004g0132 a0001c0002t0004g0133 a0001c0002t0004g0138 a0001c0002t0004g0148 a0001c0002t0004g0150 a0001c0002t0004g0161 a0001c0002t0004g0178 a0001c0002t0004g0264 a0001c0002t0005g0163 a0001c0002t0009g0100 a0001c0002t0009g0104 a0001c0002t0009g0105 a0001c0002t0009g0151 a0001c0002t0009g0179 a0001c0003t0002g0091 a0001c0003t0003g0001 a0001c0003t0003g0006 a0001c0003t0003g0007 a0001c0003t0003g0008 a0001c0003t0003g0009 a0001c0003t0003g0010 a0001c0003t0003g0011 a0001c0003t0003g0035 a0001c0003t0003g0064 a0001c0003t0003g0067 a0001c0003t0003g0071 a0001c0003t0003g0072 a0001c0003t0003g0073 a0001c0003t0003g0075 a0001c0003t0003g0082 a0001c0003t0003g0084 a0001c0003t0003g0114 a0001c0003t0003g0116 a0001c0003t0003g0121 a0001c0003t0003g0129 a0001c0003t0003g0168 a0001c0003t0003g0188 a0001c0003t0003g0190 a0001c0003t0003g0193 a0001c0003t0003g0202 a0001c0003t0003g0204 a0001c0003t0003g0205 a0001c0003t0003g0230 a0001c0003t0003g0242 a0001c0003t0003g0252 a0001c0003t0005g0016 a0001c0003t0005g0183 a0001c0003t0007g0134 a0001c0003t0008g0258 a0001c0003t0019g0165 a0001c0003t0019g0166 a0001c0003t0035g0081 a0001c0003t0036g0124 a0001c0004t0001g0181 a0001c0004t0004g0175 a0001c0004t0004g0277 a0001c0004t0031g0053 a0001c0007t0006g0066 a0001c0007t0006g0162 a0002c0010t0003g0070 a0003c0013t0004g0145	79	282	0.2801	-43	c.737 others(60): Show c.737-9893_737-9851delTCTGTGTGGTGTGTGGTGATTGTGTGTC TGTGTGTGCTGTGTA		GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	3/10						chr6	TogoVar
GRM7_chr3_6856115_7746533	7128636	AGCTGGGA others(36): Show AGCTGGGATTACAGGTACCCACCACCACGCCCAGCTAATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03195.hp2 NA19030.hp1 HG02922.hp2 HG03195.hp2 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0004 a0001c0003t0002 a0001c0003t0004	a0001c0003t0002g0056 a0001c0003t0004g0061 a0001c0003t0004g0062 a0001c0003t0002g0056 a0001c0003t0004g0061 a0001c0003t0004g0062	3	80	0.0375	-43	c.520 others(62): Show c.520-17815_520-17773delGCTGGGATTACAGGTACCCACCACCA CGCCCAGCTAATTTTTT		GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9						chr3	TogoVar
GSG1L_chr16_27782528_28068714	27827907	CACCTACC others(36): Show CACCTACCCATCCACCACTCATCCATCCATCCATCCATCCATCT	C C	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	240	0.0042	-43	c.830 others(58): Show c.830+839_830+881delAGATGGATGGATGGATGGATGGATGAGTGG TGGATGGGTAGGT		GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	5/6						chr16	TogoVar
GSTM4_chr1_109651099_109666700	109654173	AGAAAGAA others(36): Show AGAAAGAAAGAAAGAAAGGAAAGAAAGAAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	364	0.0028	-43	c.-22 others(54): Show c.-2216_-2174delGAAAGAAAGAAAGAAAGGAAAGAAAGAAAAGAAA GAAAGAAAG		GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding					1925		chr1	TogoVar
GUCY1A2_chr11_106669019_107023476	107021990	CAAGAGGG others(36): Show CAAGAGGGCAAATGTGCTTTCTCTGAGAAATACTGGCAGCAAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0002 a0001c0001t0066g0002	1	256	0.0039	-43	c.-39 others(54): Show c.-3978_-3936delATTTGCTGCCAGTATTTCTCAGAGAAAGCACATT TGCCCTCTT		GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding					3515		chr11	TogoVar
GUCY2C_chr12_14607632_14701599	14684582	TTCCTTCC others(36): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0177 a0001c0003t0001g0177	1	236	0.0042	-43	c.396 others(60): Show c.396-1368_396-1326delGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGA		GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding	3/26						chr12	TogoVar
GUCY2C_chr12_14607632_14701599	14696962	GTATATAT others(36): Show GTATATATATATATATATATATATATATAAAGTGTATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0177 a0001c0003t0001g0177	1	236	0.0042	-43	c.-55 others(52): Show c.-557_-515delTATATATATACACTTTATATATATATATATATATAT ATATATA		GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding					364		chr12	TogoVar
GUCY2C_chr12_14607632_14701599	14696995	GTATATAT others(36): Show GTATATATATATATATATATATATATATATAAAGTGTATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02615.hp2 HG02486.hp1 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0153 a0001c0002t0001g0094 a0001c0002t0001g0153	2	236	0.0085	-43	c.-59 others(52): Show c.-590_-548delTATATATACACTTTATATATATATATATATATATAT ATATATA		GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding					397		chr12	TogoVar
GZMM_chr19_539053_554922	549702	GTCTGCAC others(36): Show GTCTGCACTGACATCTTCAAGCCTCCCGTGGCCACCGCTGTGGC	G G	frameshift_variant frameshift_variant	HIGH	NA19083.hp2 NA19083.hp2	a0000 a0000	a0000c0015 a0000c0015	a0000c0015t0001 a0000c0015t0001	a0000c0015t0001g0230 a0000c0015t0001g0230	1	398	0.0025	-43	c.686 others(50): Show c.686_728delTCTGCACTGACATCTTCAAGCCTCCCGTGGCCACCGCT GTGGC	p.Val others(5): Show p.Val229fs	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding	5/5	705/924	686/774	229/257			chr19	TogoVar
HAUS7_chrX_153442668_153475576	153466959	ACATTTTG others(36): Show ACATTTTGGATATGGGACACTCAACCTGTAGAAGCATCTGAGGG	A A	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	321	0.0031	-43	c.225 others(60): Show c.225-1947_225-1905delCCCTCAGATGCTTCTACAGGTTGAGTGT CCCATATCCAAAATG		HAUS7	ENSG00000213397.12	transcript	ENST00000370211.10	protein_coding	2/9						chrX	TogoVar
HBM_chr16_160978_171764	164928	GGTCGCGG others(36): Show GGTCGCGGGGCGGGGCGCGGGGCGGGGCGGGGCGGGGTGGGGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	-43	c.-10 others(54): Show c.-1069_-1027delGTCGCGGGGCGGGGCGCGGGGCGGGGCGGGGCGG GGTGGGGTC		HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding					1049		chr16	TogoVar
HCN2_chr19_584881_622159	604607	ATATGAGG others(36): Show ATATGAGGGTTGTGCTGGGCGGGGTCAGGCAGCAAGGGCGGGAC	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03471.hp2 NA20129.hp2 HG02970.hp2 HG03471.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0042 a0002c0063 a0001c0003 a0001c0042 a0002c0063	a0001c0003t0001 a0001c0042t0008 a0002c0063t0001 a0001c0003t0001 a0001c0042t0008 a0002c0063t0001	a0001c0003t0001g0018 a0001c0042t0008g0112 a0002c0063t0001g0274 a0001c0003t0001g0018 a0001c0042t0008g0112 a0002c0063t0001g0274	3	408	0.0074	-43	c.105 others(60): Show c.1057-420_1057-378delAGGGCGGGACTATGAGGGTTGTGCTGGG CGGGGTCAGGCAGCA		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HDAC4_chr2_239043168_239406020	239059828	CACCAGCC others(36): Show CACCAGCCTGCAGGACAGTCCTCTGGGGGGCCTTGGACCCACCT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0132 a0001c0001t0025g0132	1	242	0.0041	-43	c.300 others(62): Show c.3004-5038_3004-4996delAGGTGGGTCCAAGGCCCCCCAGAGGA CTGTCCTGCAGGCTGGT		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	24/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239142591	CAGCTCAG others(36): Show CAGCTCAGCACTGATCACGCCCTGCCACGCATGGCTCCTGGGTG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01243.hp2 HG02109.hp1 others(9): Show HG01099.hp2 HG01243.hp2 HG02109.hp1 HG02257.hp2 HG02280.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03540.hp2 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0022	a0001c0001t0052 a0001c0003t0003 a0001c0003t0004 others(7): Show a0001c0001t0052 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0017 a0001c0004t0073 a0001c0005t0064 a0001c0007t0003 a0001c0009t0053 a0001c0022t0070	a0001c0001t0052g0073 a0001c0003t0003g0068 a0001c0003t0004g0042 others(9): Show a0001c0001t0052g0073 a0001c0003t0003g0068 a0001c0003t0004g0042 a0001c0003t0004g0123 a0001c0003t0007g0124 a0001c0003t0017g0001 a0001c0004t0073g0014 a0001c0005t0064g0039 a0001c0007t0003g0033 a0001c0007t0003g0076 a0001c0009t0053g0003 a0001c0022t0070g0094	12	242	0.0496	-43	c.865 others(60): Show c.865+1949_865+1991delCACCCAGGAGCCATGCGTGGCAGGGCGT GATCAGTGCTGAGCT		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	8/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239184632	GGGGTCCC others(36): Show GGGGTCCCTCAGTGTCTGTCCTGGAGGTTGTACCCTATGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00544.hp1 others(53): Show HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG01071.hp1 HG01099.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp2 HG01975.hp2 HG01993.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02148.hp2 HG02165.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02818.hp1 HG02895.hp1 HG02976.hp2 HG03130.hp1 HG03453.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18747.hp1 NA18946.hp1 NA18950.hp1 NA18961.hp1 NA18961.hp2 NA18993.hp1 NA19057.hp1 NA19057.hp2 NA19068.hp2 NA19079.hp2 NA19090.hp1 NA20300.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0015 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0033 a0001c0001t0046 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0012 a0001c0002t0016 a0001c0002t0020 a0001c0002t0024 a0001c0003t0005 a0001c0004t0068 a0001c0004t0073 a0001c0005t0007 a0001c0006t0002 a0001c0006t0045 a0001c0006t0048 a0001c0010t0041 a0001c0015t0074 a0004c0014t0002	a0001c0001t0001g0002 a0001c0001t0001g0049 a0001c0001t0001g0107 others(53): Show a0001c0001t0001g0002 a0001c0001t0001g0049 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0146 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0198 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0002g0112 a0001c0001t0002g0217 a0001c0001t0002g0223 a0001c0001t0003g0041 a0001c0001t0003g0087 a0001c0001t0004g0232 a0001c0001t0005g0083 a0001c0001t0005g0099 a0001c0001t0006g0116 a0001c0001t0006g0218 a0001c0001t0007g0052 a0001c0001t0008g0166 a0001c0001t0010g0125 a0001c0001t0011g0212 a0001c0001t0018g0056 a0001c0001t0018g0202 a0001c0001t0033g0152 a0001c0001t0046g0055 a0001c0002t0001g0012 a0001c0002t0001g0110 a0001c0002t0001g0113 a0001c0002t0001g0153 a0001c0002t0001g0208 a0001c0002t0002g0162 a0001c0002t0004g0222 a0001c0002t0006g0234 a0001c0002t0009g0100 a0001c0002t0012g0242 a0001c0002t0016g0051 a0001c0002t0020g0086 a0001c0002t0024g0145 a0001c0002t0024g0164 a0001c0003t0005g0230 a0001c0004t0068g0091 a0001c0004t0073g0014 a0001c0005t0007g0032 a0001c0006t0002g0063 a0001c0006t0045g0135 a0001c0006t0048g0060 a0001c0010t0041g0066 a0001c0015t0074g0028 a0004c0014t0002g0101 a0004c0014t0002g0102	56	242	0.2314	-43	c.339 others(60): Show c.339+5158_339+5200delTCCCCCATAGGGTACAACCTCCAGGACA GACACTGAGGGACCC		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	4/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239184796	GGGGGGGT others(36): Show GGGGGGGTCCCTCAGTGTCTGTCCTGGAGACTGTGTCCTATGGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(85): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01257.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG02015.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02738.hp1 HG02886.hp1 HG02896.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03491.hp1 HG03516.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18998.hp1 NA19010.hp1 NA19010.hp2 NA19056.hp1 NA19056.hp2 NA19068.hp1 NA19079.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0009 others(1): Show a0001 a0006 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0024 a0001c0027 a0001c0030 a0001c0032 a0001c0033 a0006c0025 a0009c0021 a0010c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0025 a0001c0001t0035 a0001c0001t0057 a0001c0001t0060 a0001c0001t0063 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0012 a0001c0002t0015 a0001c0002t0016 a0001c0002t0020 a0001c0002t0043 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0034 a0001c0004t0004 a0001c0004t0062 a0001c0005t0001 a0001c0005t0064 a0001c0006t0026 a0001c0007t0003 a0001c0008t0001 a0001c0009t0040 a0001c0009t0051 a0001c0011t0001 a0001c0011t0006 a0001c0011t0025 a0001c0012t0028 a0001c0012t0030 a0001c0024t0069 a0001c0027t0009 a0001c0030t0001 a0001c0032t0001 a0001c0033t0001 a0006c0025t0044 a0009c0021t0001 a0010c0020t0038	a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 others(85): Show a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0085 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0136 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0170 a0001c0001t0001g0200 a0001c0001t0001g0241 a0001c0001t0002g0160 a0001c0001t0002g0196 a0001c0001t0002g0224 a0001c0001t0003g0031 a0001c0001t0003g0065 a0001c0001t0003g0097 a0001c0001t0003g0147 a0001c0001t0004g0018 a0001c0001t0004g0186 a0001c0001t0005g0019 a0001c0001t0005g0082 a0001c0001t0005g0161 a0001c0001t0006g0189 a0001c0001t0006g0227 a0001c0001t0008g0174 a0001c0001t0011g0201 a0001c0001t0013g0109 a0001c0001t0014g0190 a0001c0001t0025g0132 a0001c0001t0035g0090 a0001c0001t0057g0088 a0001c0001t0060g0084 a0001c0001t0063g0149 a0001c0002t0001g0115 a0001c0002t0001g0167 a0001c0002t0001g0172 a0001c0002t0001g0183 a0001c0002t0001g0187 a0001c0002t0001g0197 a0001c0002t0001g0206 a0001c0002t0001g0214 a0001c0002t0001g0240 a0001c0002t0004g0210 a0001c0002t0006g0226 a0001c0002t0009g0185 a0001c0002t0012g0111 a0001c0002t0015g0120 a0001c0002t0015g0184 a0001c0002t0016g0178 a0001c0002t0020g0175 a0001c0002t0043g0089 a0001c0003t0002g0144 a0001c0003t0003g0068 a0001c0003t0004g0017 a0001c0003t0004g0042 a0001c0003t0007g0124 a0001c0003t0007g0229 a0001c0003t0034g0007 a0001c0004t0004g0009 a0001c0004t0004g0013 a0001c0004t0062g0075 a0001c0005t0001g0021 a0001c0005t0001g0128 a0001c0005t0064g0039 a0001c0006t0026g0058 a0001c0007t0003g0076 a0001c0008t0001g0207 a0001c0009t0040g0072 a0001c0009t0051g0020 a0001c0011t0001g0118 a0001c0011t0006g0119 a0001c0011t0025g0050 a0001c0012t0028g0133 a0001c0012t0030g0225 a0001c0024t0069g0106 a0001c0027t0009g0148 a0001c0030t0001g0064 a0001c0032t0001g0048 a0001c0033t0001g0179 a0006c0025t0044g0059 a0009c0021t0001g0117 a0010c0020t0038g0054	88	242	0.3636	-43	c.339 others(60): Show c.339+4994_339+5036delACCATAGGACACAGTCTCCAGGACAGAC ACTGAGGGACCCCCC		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	4/26						chr2	TogoVar
HERPUD2_chr7_35627659_35700135	35631697	AATATATA others(36): Show AATATATAAATTATATATATAAATTATATAAATATATAAATTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0368 a0002c0002t0002g0368	1	392	0.0026	-43	c.19 others(54): Show c.1950_*1992delATAATTTATATATTTATATAATTTATATATATAA TTTATATAT		HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding					961		chr7	TogoVar
HHIPL1_chr14_99640129_99685569	99656849	AAGGAAGG others(36): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG01074.hp2 others(14): Show HG00639.hp1 HG00642.hp2 HG01074.hp2 HG01167.hp1 HG01169.hp2 HG01515.hp2 HG01517.hp1 HG02109.hp1 HG02717.hp1 HG03130.hp2 HG03540.hp1 HG03942.hp2 NA18967.hp2 NA18981.hp2 NA19074.hp2 NA19083.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0004 a0001c0002 a0001c0003 a0002c0004	a0001c0002t0002 a0001c0002t0003 a0001c0002t0022 others(4): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0022 a0001c0003t0002 a0001c0003t0004 a0001c0003t0016 a0002c0004t0010	a0001c0002t0002g0117 a0001c0002t0003g0203 a0001c0002t0022g0256 others(13): Show a0001c0002t0002g0117 a0001c0002t0003g0203 a0001c0002t0022g0256 a0001c0003t0002g0006 a0001c0003t0002g0094 a0001c0003t0002g0095 a0001c0003t0002g0110 a0001c0003t0002g0111 a0001c0003t0002g0318 a0001c0003t0002g0340 a0001c0003t0002g0354 a0001c0003t0004g0127 a0001c0003t0004g0128 a0001c0003t0004g0133 a0001c0003t0016g0129 a0002c0004t0010g0131	17	374	0.0455	-43	c.903 others(58): Show c.903-149_903-107delGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGA		HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr14	TogoVar
HHIP_chr4_144641156_144750271	144742955	TACATATA others(36): Show TACATATAAGATATATGTATATATATATACATTATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp2 HG02735.hp1 HG02559.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0090 a0001c0001t0024g0226 a0001c0001t0024g0090 a0001c0001t0024g0226	2	316	0.0063	-43	c.50 others(54): Show c.5000_*5042delCATATAAGATATATGTATATATATATACATTATA TATATATAA		HHIP	ENSG00000164161.10	transcript	ENST00000296575.8	protein_coding	13/13				5000	INFO_REALIGN_3_PRIME	chr4	TogoVar
HIBADH_chr7_27520442_27667883	27613117	AATATATT others(36): Show AATATATTTATATATATTTATATAAATATATTTTATATAAATAT	A A	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0261 a0001c0002t0001g0261	1	326	0.0031	-43	c.484 others(62): Show c.484+16211_484+16253delATATTTATATAAAATATATTTATATA AATATATATAAATATAT		HIBADH	ENSG00000106049.9	transcript	ENST00000265395.7	protein_coding	4/7						chr7	TogoVar
HIBCH_chr2_190198920_190324826	190314278	AATATATA others(36): Show AATATATATATATGTATATATACATATATATGTGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0293 a0002c0002t0002g0293	1	368	0.0027	-43	c.36- others(58): Show c.36-3525_36-3483delCATATATATACACATATATATGTATATATA CATATATATATAT		HIBCH	ENSG00000198130.16	transcript	ENST00000359678.10	protein_coding	1/13						chr2	TogoVar
HK2_chr2_74829127_74898359	74896664	TATGGGAT others(36): Show TATGGGATAAATAAATCAGCCGTATTTAAACAACTGTTTTGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	394	0.0025	-43	c.57 others(54): Show c.5724_*5766delATGGGATAAATAAATCAGCCGTATTTAAACAACT GTTTTGCCA		HK2	ENSG00000159399.10	transcript	ENST00000290573.7	protein_coding					3306		chr2	TogoVar
HMCN1_chr1_185729391_186195949	186086791	TAGATGAT others(36): Show TAGATGATAGATAGATAGATAGATGATAGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01261.hp2 HG01978.hp2 others(11): Show HG00323.hp1 HG01261.hp2 HG01978.hp2 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02572.hp2 HG02698.hp2 HG02922.hp1 HG03540.hp1 HG03540.hp2 HG04115.hp2 NA19030.hp1 NA19240.hp1	a0001 a0002 a0006 others(5): Show a0001 a0002 a0006 a0007 a0015 a0036 a0039 a0044	a0001c0001 a0002c0004 a0006c0006 others(5): Show a0001c0001 a0002c0004 a0006c0006 a0007c0010 a0015c0012 a0036c0032 a0039c0033 a0044c0041	a0001c0001t0001 a0002c0004t0001 a0002c0004t0002 others(7): Show a0001c0001t0001 a0002c0004t0001 a0002c0004t0002 a0006c0006t0001 a0006c0006t0002 a0007c0010t0001 a0015c0012t0008 a0036c0032t0001 a0039c0033t0001 a0044c0041t0001	a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 others(11): Show a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0002c0004t0001g0030 a0002c0004t0001g0050 a0002c0004t0002g0023 a0002c0004t0002g0024 a0006c0006t0001g0049 a0006c0006t0002g0053 a0007c0010t0001g0005 a0015c0012t0008g0001 a0036c0032t0001g0064 a0039c0033t0001g0076 a0044c0041t0001g0060	14	92	0.1522	-43	c.904 others(60): Show c.9046+385_9047-383delAGATGATAGATAGATAGATAGATGATAG ATAGATAGATAGATA		HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	58/106						chr1	TogoVar
HMGCLL1_chr6_55429373_55584192	55477381	TTATCTAA others(36): Show TTATCTAAATATAATATATATTATCTAAATATATATTATCTTAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03195.hp1 HG03225.hp1 HG01884.hp1 HG03195.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0237 a0001c0001t0003g0217 a0001c0001t0006g0233 a0001c0001t0001g0237 a0001c0001t0003g0217 a0001c0001t0006g0233	3	334	0.0090	-43	c.795 others(62): Show c.795+17995_795+18037delTTAAGATAATATATATTTAGATAATA TATATTATATTTAGATA		HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8						chr6	TogoVar
HPGDS_chr4_94293535_94347836	94340289	CTTTCTTT others(36): Show CTTTCTTTCTTTCTTTCTTTCTCTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG01884.hp2 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0025 a0002c0002t0005g0026 a0002c0002t0005g0025 a0002c0002t0005g0026	2	312	0.0064	-43	c.-10 others(60): Show c.-10+2463_-10+2505delAAAAAAAAAAAAAAAAAAAAAGAGAAAG AAAGAAAGAAAGAAA		HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5						chr4	TogoVar
HRH3_chr20_62209960_62225278	62213477	GGGGGGTA others(36): Show GGGGGGTAAGGAGAGCGGGGATGGGGGGTAAGGAGAGCGGGGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 NA18983.hp2 NA19012.hp2 others(2): Show HG02165.hp1 NA18983.hp2 NA19012.hp2 NA19058.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0011 a0001c0002t0001g0006 a0001c0002t0001g0011	5	368	0.0136	-43	c.24 others(54): Show c.2486_*2528delATCCCCGCTCTCCTTACCCCCCATCCCCGCTCTC CTTACCCCC		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1482		chr20	TogoVar
HSD17B8_chr6_33199655_33211831	33209305	GGTAGCAC others(36): Show GGTAGCACCAGGACTTTAAAAAATTTTGTTGAATAGTTTTTCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	403	0.0025	-43	c.26 others(54): Show c.2652_*2694delGTAGCACCAGGACTTTAAAAAATTTTGTTGAATA GTTTTTCCC		HSD17B8	ENSG00000204228.4	transcript	ENST00000374662.4	protein_coding					2475		chr6	TogoVar

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