Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GRP_chr18_59215158_59235771	59234478	C C	CATACCAT others(28): Show CATACCATGGTATATATATAATATAACATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0048	1	140	0.0071	35	c.40 others(46): Show c.4010_*4011insATACCATGGTATATATATAATATAACATATTATA T	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3708		chr18	TogoVar
GRP_chr18_59215158_59235771	59234513	C C	CATACCAT others(28): Show CATACCATGGTATATATATAATATAACATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01358.hp1 others(34): Show HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02074.hp1 HG02080.hp2 HG02165.hp1 HG02451.hp1 HG03540.hp2 HG03927.hp2 NA18522.hp1 NA18945.hp1 NA18947.hp1 NA18954.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp2 NA18971.hp2 NA18981.hp1 NA18985.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp2 NA19010.hp2 NA19030.hp1 NA19065.hp1 NA19066.hp2 NA19082.hp2 NA19085.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0002 a0002c0002t0001 a0002c0003t0002	a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0028 others(2): Show a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0003t0002g0009	37	98	0.3776	35	c.40 others(46): Show c.4045_*4046insATACCATGGTATATATATAATATAACATATTATA T	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3743		chr18	TogoVar
GRP_chr18_59215158_59235771	59234513	C C	CATACCAT others(28): Show CATACCATGGTATATATATTATATAACATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0112 a0004c0005t0001g0112	1	62	0.0161	35	c.40 others(46): Show c.4045_*4046insATACCATGGTATATATATTATATAACATATTATA T	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3743		chr18	TogoVar
GRP_chr18_59215158_59235771	59234532	A A	AATATAAC others(28): Show AATATAACATATTATACATACCATGGTATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	401	0.0025	35	c.40 others(46): Show c.4064_*4065insATATAACATATTATACATACCATGGTATATATAT T	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3762		chr18	TogoVar
GRP_chr18_59215158_59235771	59234532	A A	AATATAAC others(28): Show AATATAACATATTATATATACCATGGTATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 NA19086.hp2 HG02683.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0002 a0002c0002t0001g0003	2	402	0.0050	35	c.40 others(46): Show c.4064_*4065insATATAACATATTATATATACCATGGTATATATAT T	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3762		chr18	TogoVar
GRP_chr18_59215158_59235771	59234548	C C	CATACCAT others(28): Show CATACCATGGTATATATATAATATAACATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01109.hp1 HG01256.hp1 others(8): Show HG00609.hp2 HG01109.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG02083.hp2 HG02273.hp2 HG02738.hp2 HG03834.hp2 HG04115.hp1 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0029 others(1): Show a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0029 a0002c0002t0001g0053	11	20	0.5500	35	c.40 others(46): Show c.4080_*4081insATACCATGGTATATATATAATATAACATATTATA T	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3778		chr18	TogoVar
GRP_chr18_59215158_59235771	59234548	C C	CATACCAT others(28): Show CATACCATGGTATATATATTATATAACATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	10	0.1000	35	c.40 others(46): Show c.4080_*4081insATACCATGGTATATATATTATATAACATATTATA T	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3778		chr18	TogoVar
GSDMD_chr8_143553346_143568062	143558921	C C	CGACACTC others(28): Show CGACACTCTGGCTGGGTTTTGCAGTGGGTCCCTGGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG00639.hp2 others(70): Show HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01346.hp2 HG01361.hp2 HG01884.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02135.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02602.hp2 HG02698.hp1 HG02723.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03490.hp1 HG03491.hp1 HG03654.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18950.hp2 NA18953.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18972.hp1 NA18983.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19009.hp1 NA19011.hp2 NA19065.hp1 NA19068.hp2 NA19079.hp2 NA19081.hp1 NA19084.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0004c0010	a0001c0001t0001 a0001c0002t0001 a0001c0013t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0013t0001 a0004c0010t0001	a0001c0001t0001g0003 a0001c0002t0001g0003 a0001c0002t0001g0024 others(11): Show a0001c0001t0001g0003 a0001c0002t0001g0003 a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0013t0001g0003 a0004c0010t0001g0025	73	416	0.1755	35	c.-4- others(48): Show c.-4-377_-4-343dupGTGACACTCTGGCTGGGTTTTGCAGTGGGTCC CTG	GSDMD	ENSG00000104518.11	transcript	ENST00000262580.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
GSE1_chr16_85608322_85681200	85627044	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0262 a0001c0002t0007g0262	1	22	0.0455	35	c.8-6 others(48): Show c.8-6838_8-6837insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85637463	G G	GCCCCCTT others(28): Show GCCCCCTTGATTGCAGCAGTGGCTATGTATCGAGTC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0031 a0001c0020t0031	a0001c0020t0031g0225 a0001c0020t0031g0225	1	288	0.0035	35	c.226 others(52): Show c.226+3342_226+3376dupTGCAGCAGTGGCTATGTATCGAGTCCCC CCTTGAT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85637474	T T	TGCGGCAG others(28): Show TGCGGCAGTGGCTATGTATCGAGTCCCCCCTTGATC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0077 a0001c0001t0015g0077	1	285	0.0035	35	c.226 others(52): Show c.226+3344_226+3345insGGCAGTGGCTATGTATCGAGTCCCCCCT TGATCGC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85645016	C C	CCTGTCCC others(28): Show CCTGTCCCCACCCTCTGCCCCTGAGGTGAGGGGCGT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0001 a0001c0045t0001	a0001c0045t0001g0150 a0001c0045t0001g0150	1	288	0.0035	35	c.227 others(52): Show c.227-3535_227-3501dupCTGTCCCCACCCTCTGCCCCTGAGGTGA GGGGCGT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSG1L_chr16_27782528_28068714	27842053	T T	TATCAGTA others(28): Show TATCAGTAGCACGATGTCGCGCGTGCCGAATTTCAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01496.hp1 HG02040.hp1 others(21): Show HG01074.hp2 HG01496.hp1 HG02040.hp1 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02257.hp2 HG02451.hp2 HG02615.hp2 HG02622.hp2 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp2 HG03098.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03704.hp1 HG03942.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0042 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0022	a0001c0001t0001g0167 a0001c0001t0002g0043 a0001c0001t0002g0050 others(21): Show a0001c0001t0001g0167 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0096 a0001c0001t0002g0159 a0001c0001t0002g0231 a0001c0001t0004g0143 a0001c0001t0006g0021 a0001c0001t0006g0164 a0001c0001t0042g0111 a0001c0002t0001g0015 a0001c0002t0001g0025 a0001c0002t0001g0059 a0001c0002t0001g0069 a0001c0002t0001g0122 a0001c0002t0001g0209 a0001c0002t0002g0100 a0001c0002t0002g0161 a0001c0002t0002g0170 a0001c0002t0003g0016 a0001c0002t0003g0142 a0001c0002t0005g0177 a0001c0002t0022g0185 a0001c0002t0022g0211	24	190	0.1263	35	c.662 others(52): Show c.662+2862_662+2896dupGTGAAATTCGGCACGCGCGACATCGTGC TACTGAT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	4/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27842099	C C	CGATGTCG others(28): Show CGATGTCGCGCGTGCCGAATTTCACATCAGTAGCAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	238	0.0042	35	c.662 others(52): Show c.662+2850_662+2851insATGCTACTGATGTGAAATTCGGCACGCG CGACATC	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	4/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	28031297	G G	GGATGGGA others(28): Show GGATGGGATGAGATGGAATGGGATGGGATGGGATGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp2 HG02630.hp1 others(7): Show HG02055.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG03139.hp2 HG03209.hp1 HG03486.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 others(5): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0017 a0001c0002t0046 a0001c0005t0023	a0001c0001t0002g0159 a0001c0001t0002g0231 a0001c0001t0006g0104 others(7): Show a0001c0001t0002g0159 a0001c0001t0002g0231 a0001c0001t0006g0104 a0001c0002t0001g0069 a0001c0002t0002g0065 a0001c0002t0002g0100 a0001c0002t0009g0014 a0001c0002t0017g0105 a0001c0002t0046g0103 a0001c0005t0023g0012	10	238	0.0420	35	c.349 others(54): Show c.349+31744_349+31778dupTCATCCCATCCCATCCCATTCCATCT CATCCCATC	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	1/6			chr16	TogoVar
GSPT1_chr16_11863128_11920956	11881655	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0059 a0001c0005t0010g0059	1	11	0.0909	35	c.142 others(54): Show c.1428+1359_1428+1360insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	GSPT1	ENSG00000103342.13	transcript	ENST00000434724.7	protein_coding	11/14			chr16	TogoVar
GTDC1_chr2_143933068_144337512	144136395	A A	AAAAGGAA others(28): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01243.hp2 HG01358.hp1 others(14): Show HG00438.hp1 HG01243.hp2 HG01358.hp1 HG01975.hp1 HG02135.hp1 HG02155.hp2 HG02976.hp2 HG03139.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 NA18986.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0014 a0001c0001 a0001c0003 a0001c0014	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0022 a0001c0001t0031 a0001c0001t0037 a0001c0001t0038 a0001c0003t0003 a0001c0003t0045 a0001c0014t0003	a0001c0001t0002g0009 a0001c0001t0002g0020 a0001c0001t0002g0021 others(14): Show a0001c0001t0002g0009 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0071 a0001c0001t0002g0092 a0001c0001t0004g0014 a0001c0001t0007g0091 a0001c0001t0012g0090 a0001c0001t0012g0109 a0001c0001t0022g0041 a0001c0001t0031g0018 a0001c0001t0037g0077 a0001c0001t0038g0045 a0001c0003t0003g0105 a0001c0003t0003g0106 a0001c0003t0045g0107 a0001c0014t0003g0087	17	35	0.4857	35	c.521 others(52): Show c.521+5452_521+5486dupCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144182808	A A	AATATATA others(28): Show AATATATATATATTATATATATAATATATATATAAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0062 a0002c0002t0010g0062	1	54	0.0185	35	c.179 others(54): Show c.179+25794_179+25795insATTATATATATATTATATATATAATA TATATATAT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	4/11			chr2	TogoVar
GTF2I_chr7_74652718_74765692	74680099	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 NA21309.hp1 HG01070.hp2 HG01071.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0120 a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0001g0120 a0001c0001t0003g0018 a0001c0001t0003g0020	3	125	0.0240	35	c.-5- others(50): Show c.-5-9024_-5-9023insAAAAAAAAAAAAATATATATATATATATAT ATATA	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr7	TogoVar
GUCA1B_chr6_42178284_42199956	42188886	T T	TTCTATCT others(28): Show TTCTATCTATCATCTATCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02257.hp1 HG02615.hp1 others(5): Show HG01081.hp2 HG02257.hp1 HG02615.hp1 HG02895.hp1 HG02896.hp1 HG02970.hp2 HG03579.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0002c0004t0001 a0001c0002t0001 a0002c0004t0001	a0001c0002t0001g0021 a0001c0002t0001g0128 a0001c0002t0001g0133 others(3): Show a0001c0002t0001g0021 a0001c0002t0001g0128 a0001c0002t0001g0133 a0001c0002t0001g0141 a0002c0004t0001g0143 a0002c0004t0001g0144	8	357	0.0224	35	c.208 others(50): Show c.208-156_208-155insTAGATAGATAGATAGATAGATAGATGATAG ATAGA	GUCA1B	ENSG00000112599.9	transcript	ENST00000230361.4	protein_coding	1/3			chr6	TogoVar
GUCA1B_chr6_42178284_42199956	42188886	T T	TTCTATCT others(28): Show TTCTATCTATTATCTATCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	350	0.0029	35	c.208 others(50): Show c.208-156_208-155insTAGATAGATAGATAGATAGATAGATAATAG ATAGA	GUCA1B	ENSG00000112599.9	transcript	ENST00000230361.4	protein_coding	1/3			chr6	TogoVar
GUCY1A2_chr11_106669019_107023476	106698119	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0184 a0001c0002t0004g0184	1	99	0.0101	35	c.199 others(56): Show c.1992-10364_1992-10363insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	7/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106944215	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA20752.hp2 HG00639.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0067 a0001c0001t0005 a0001c0002t0067	a0001c0001t0005g0170 a0001c0002t0067g0176 a0001c0001t0005g0170 a0001c0002t0067g0176	2	61	0.0328	35	c.488 others(52): Show c.488-4038_488-4037insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	3/7			chr11	TogoVar
GULP1_chr2_188286874_188600926	188308070	T T	TCTCAAGA others(28): Show TCTCAAGAGTTATTTCATTTTTCAATCCAATAACTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00639.hp2 others(104): Show HG00140.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp2 HG01433.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02080.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18959.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA19030.hp2 NA19065.hp1 NA19065.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032	a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0052 others(104): Show a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0140 a0001c0001t0002g0146 a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0004g0128 a0001c0001t0004g0147 a0001c0001t0004g0160 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0008g0032 a0001c0001t0008g0033 a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0008g0036 a0001c0001t0008g0037 a0001c0001t0009g0021 a0001c0001t0009g0023 a0001c0001t0009g0025 a0001c0001t0009g0031 a0001c0001t0010g0001 a0001c0001t0010g0014 a0001c0001t0010g0022 a0001c0001t0010g0024 a0001c0001t0011g0001 a0001c0001t0011g0026 a0001c0001t0011g0027 a0001c0001t0011g0030 a0001c0001t0012g0050 a0001c0001t0012g0127 a0001c0001t0012g0139 a0001c0001t0013g0016 a0001c0001t0013g0017 a0001c0001t0013g0018 a0001c0001t0014g0083 a0001c0001t0014g0084 a0001c0001t0015g0066 a0001c0001t0017g0152 a0001c0001t0018g0081 a0001c0001t0019g0149 a0001c0001t0020g0057 a0001c0001t0021g0055 a0001c0001t0022g0082 a0001c0001t0023g0085 a0001c0001t0024g0076 a0001c0001t0028g0012 a0001c0001t0029g0004 a0001c0001t0030g0006 a0001c0001t0031g0003 a0001c0001t0032g0015	107	160	0.6688	35	c.-17 others(56): Show c.-172+15904_-172+15905insCTCAAGAGTTATTTCATTTTTCAA TCCAATAACTA	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11			chr2	TogoVar
GYG1_chr3_148986540_149036775	149017582	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0049 a0002c0004t0049	a0002c0004t0049g0195 a0002c0004t0049g0195	1	87	0.0115	35	c.609 others(52): Show c.609-6441_609-6440insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	GYG1	ENSG00000163754.18	transcript	ENST00000345003.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
GYG2_chrX_2823930_2887818	2846056	T T	TATATACA others(28): Show TATATACACACACACATATATATACACATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp2 HG03579.hp1 HG02630.hp1 HG02886.hp2 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0004 a0002c0002t0005g0180 a0002c0002t0002g0004 a0002c0002t0005g0180	3	243	0.0123	35	c.149 others(52): Show c.149+2702_149+2703insATATACACACACACATATATATACACAT ATATATA	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10			chrX	TogoVar
GYPE_chr4_143865864_143910559	143883511	T T	TAATTTAT others(28): Show TAATTTATAATTAATAATAACATGTAATTAATTATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00597.hp1 others(42): Show HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00609.hp1 HG00733.hp2 HG01099.hp2 HG01109.hp2 HG01175.hp2 HG01361.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02132.hp1 HG02451.hp1 HG02523.hp1 HG02809.hp1 HG03017.hp1 HG03579.hp1 HG03654.hp1 HG03831.hp1 NA18612.hp1 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18948.hp2 NA18952.hp1 NA18961.hp1 NA18971.hp2 NA18972.hp2 NA18978.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18990.hp2 NA18998.hp2 NA18999.hp2 NA19009.hp1 NA19010.hp2 NA19057.hp2 NA19066.hp2 NA19076.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012	a0001c0001t0003g0003 a0001c0001t0003g0041 a0001c0001t0003g0054 others(26): Show a0001c0001t0003g0003 a0001c0001t0003g0041 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0174 a0001c0001t0003g0216 a0001c0001t0003g0222 a0001c0001t0003g0229 a0001c0001t0003g0246 a0001c0001t0004g0107 a0001c0001t0004g0115 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0005g0040 a0001c0001t0005g0129 a0001c0001t0006g0042 a0001c0001t0006g0141 a0001c0001t0006g0146 a0001c0001t0006g0228 a0001c0001t0007g0117 a0001c0001t0012g0140	45	395	0.1139	35	c.38- others(50): Show c.38-3037_38-3003dupTATAATTAATTACATGTTATTATTAATTAT AAATT	GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding	1/3			chr4	TogoVar
GYPE_chr4_143865864_143910559	143883527	A A	ATAACATG others(28): Show ATAACATGTAATTAATTATAAATTTATAATTAATAG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0105 a0001c0001t0004g0105	1	396	0.0025	35	c.38- others(50): Show c.38-3019_38-3018insCTATTAATTATAAATTTATAATTAATTACA TGTTA	GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding	1/3			chr4	TogoVar
GYPE_chr4_143865864_143910559	143883555	T T	TATAATTA others(28): Show TATAATTATTAATAACATGTAATTAATTATAAATTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02109.hp1 others(1): Show HG01243.hp1 HG01891.hp1 HG02109.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0011 a0001c0001t0008g0011	4	329	0.0122	35	c.38- others(50): Show c.38-3047_38-3046insTAATTTATAATTAATTACATGTTATTAATA ATTAT	GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding	1/3			chr4	TogoVar
GYS1_chr19_48963130_48998309	48992487	C C	CAGGCCCG others(28): Show CAGGCCCGCAAGCCTCTCCGACCCTAGGATCTAAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(212): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18945.hp2 NA18947.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18974.hp1 NA18974.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA19002.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19082.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0001c0002 a0001c0004 others(17): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0012 a0001c0015 a0001c0017 a0001c0019 a0001c0020 a0001c0021 a0001c0023 a0001c0024 a0002c0003 a0003c0022 a0004c0014 a0006c0026 a0007c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0012 a0001c0004t0001 a0001c0005t0001 a0001c0005t0007 a0001c0007t0006 a0001c0008t0006 a0001c0010t0008 a0001c0012t0006 a0001c0015t0007 a0001c0017t0005 a0001c0019t0007 a0001c0020t0001 a0001c0021t0001 a0001c0023t0001 a0001c0024t0006 a0002c0003t0001 a0002c0003t0005 a0003c0022t0001 a0004c0014t0001 a0006c0026t0001 a0007c0016t0005	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 others(185): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0002g0008 a0001c0001t0002g0056 a0001c0001t0002g0074 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0091 a0001c0001t0002g0117 a0001c0001t0002g0128 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0180 a0001c0001t0004g0007 a0001c0001t0004g0038 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0005g0039 a0001c0001t0005g0046 a0001c0001t0007g0037 a0001c0001t0010g0045 a0001c0001t0014g0090 a0001c0001t0015g0133 a0001c0001t0016g0136 a0001c0001t0017g0108 a0001c0001t0019g0347 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0069 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0112 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0153 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0195 a0001c0002t0002g0122 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0005g0040 a0001c0002t0012g0054 a0001c0004t0001g0020 a0001c0004t0001g0113 a0001c0005t0001g0197 a0001c0005t0007g0033 a0001c0007t0006g0065 a0001c0007t0006g0066 a0001c0008t0006g0075 a0001c0008t0006g0076 a0001c0010t0008g0032 a0001c0010t0008g0035 a0001c0012t0006g0173 a0001c0015t0007g0036 a0001c0017t0005g0041 a0001c0019t0007g0034 a0001c0020t0001g0177 a0001c0021t0001g0092 a0001c0023t0001g0143 a0001c0024t0006g0199 a0002c0003t0001g0071 a0002c0003t0001g0089 a0002c0003t0001g0157 a0002c0003t0001g0168 a0002c0003t0001g0198 a0002c0003t0005g0042 a0002c0003t0005g0044 a0003c0022t0001g0142 a0004c0014t0001g0156 a0006c0026t0001g0346 a0007c0016t0005g0043	215	388	0.5541	35	c.118 others(50): Show c.118+507_118+508insCCTTAGATCCTAGGGTCGGAGAGGCTTGCG GGCCT	GYS1	ENSG00000104812.15	transcript	ENST00000323798.8	protein_coding	1/15			chr19	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTTCCT others(28): Show CCCTTCCTTCCTTCTTCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02896.hp2 HG02922.hp2 others(2): Show HG01891.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0001 a0001c0001t0001 a0004c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0063 a0004c0008t0001g0061 a0001c0001t0001g0007 a0001c0001t0001g0063 a0004c0008t0001g0061	5	181	0.0276	35	c.-46 others(46): Show c.-4694_-4693insCCTTCCTTCCTTCTTCCTTCCTTCCTTCCTTCCT T	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H2AC18_chr1_149837218_149847750	149842102	C C	CCCCGCCC others(28): Show CCCCGCCCCGCCCCGCCCCGTCCCGTCCCGTCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	178	0.0056	35	c.20 others(44): Show c.203_*204insACGGGACGGGACGGGACGGGGCGGGGCGGGGCGGG	H2AC18	ENSG00000288825.1	transcript	ENST00000369159.3	protein_coding		115		chr1	TogoVar
H2AC19_chr1_149846061_149856594	149851705	A A	ACGGGACG others(28): Show ACGGGACGGGGCGGGGCGGGGCGGGGCGGGGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	151	0.0066	35	c.19 others(44): Show c.199_*200insCGGGACGGGGCGGGGCGGGGCGGGGCGGGGCGGGG	H2AC19	ENSG00000288859.1	transcript	ENST00000607355.3	protein_coding		112		chr1	TogoVar
H2AC4_chr6_26028092_26038618	26031178	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02965.hp1 HG02615.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	2	365	0.0055	35	c.19 others(46): Show c.1997_*1998insATATATATATATATATATATATATATATATATAT A	H2AC4	ENSG00000278463.2	transcript	ENST00000615868.2	protein_coding		1913		chr6	TogoVar
H3C11_chr6_27866845_27877346	27874952	T T	TTGACAGA others(28): Show TTGACAGAGTTTTGGTCTTGTCACCCCAGGCTGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	372	0.0027	35	c.-26 others(46): Show c.-2638_-2637insCTCCAGCCTGGGGTGACAAGACCAAAACTCTGTC A	H3C11	ENSG00000275379.2	transcript	ENST00000616365.2	protein_coding		2607		chr6	TogoVar
H3C14_chr1_149835687_149846208	149842102	C C	CCCCGCCC others(28): Show CCCCGCCCCGCCCCGCCCCGTCCCGTCCCGTCCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	163	0.0061	35	c.-94 others(44): Show c.-946_-945insACGGGACGGGACGGGACGGGGCGGGGCGGGGCGGG	H3C14	ENSG00000203811.2	transcript	ENST00000369158.2	protein_coding		895		chr1	TogoVar
H3C15_chr1_149847608_149858125	149851700	A A	ACGGGACG others(28): Show ACGGGACGGGACGGGGCGGGACGGGGCGGGACGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	246	0.0041	35	c.-95 others(44): Show c.-955_-954insCGGGACGGGACGGGGCGGGACGGGGCGGGACGGGG	H3C15	ENSG00000203852.4	transcript	ENST00000403683.2	protein_coding		907		chr1	TogoVar
H3C15_chr1_149847608_149858125	149851705	A A	ACGGGACG others(28): Show ACGGGACGGGGCGGGGCGGGGCGGGGCGGGGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	158	0.0063	35	c.-95 others(44): Show c.-950_-949insCGGGACGGGGCGGGGCGGGGCGGGGCGGGGCGGGG	H3C15	ENSG00000203852.4	transcript	ENST00000403683.2	protein_coding		902		chr1	TogoVar
H3C2_chr6_26026589_26037099	26031178	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02965.hp1 HG02615.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	356	0.0056	35	c.47 others(44): Show c.471_*472insATATATATATATATATATATATATATATATATATA	H3C2	ENSG00000286522.2	transcript	ENST00000621411.3	protein_coding		410		chr6	TogoVar
H4C13_chr6_27868148_27878534	27874952	T T	TTGACAGA others(28): Show TTGACAGAGTTTTGGTCTTGTCACCCCAGGCTGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	382	0.0026	35	c.-14 others(46): Show c.-1443_-1442insCTCCAGCCTGGGGTGACAAGACCAAAACTCTGTC A	H4C13	ENSG00000275126.2	transcript	ENST00000618305.2	protein_coding		1419		chr6	TogoVar
H4C2_chr6_26021896_26032283	26031178	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02965.hp2 HG02615.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	358	0.0056	35	c.-39 others(46): Show c.-3927_-3926insATATATATATATATATATATATATATATATATAT A	H4C2	ENSG00000278705.3	transcript	ENST00000377745.5	protein_coding		3896		chr6	TogoVar
HACD3_chr15_65525463_65583349	65527131	A A	AAAAATAA others(28): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01123.hp2 HG01168.hp2 others(30): Show HG00323.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01993.hp1 HG02040.hp2 HG02145.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02717.hp1 HG02809.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA18941.hp1 NA18990.hp1 NA19002.hp2 NA19005.hp2 NA19030.hp2 NA19072.hp1 NA19091.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0020 a0004c0005t0002	a0001c0001t0001g0011 a0001c0001t0001g0042 a0001c0001t0002g0004 others(23): Show a0001c0001t0001g0011 a0001c0001t0001g0042 a0001c0001t0002g0004 a0001c0001t0002g0024 a0001c0001t0002g0030 a0001c0001t0002g0181 a0001c0001t0002g0187 a0001c0001t0002g0190 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0204 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0271 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0025 a0001c0002t0002g0184 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0020g0220 a0004c0005t0002g0003	33	57	0.5789	35	c.-35 others(46): Show c.-3501_-3500insAAAATAAAATAAAATAAAATAAAATAAAATAAAA T	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding		3331		chr15	TogoVar
HACE1_chr6_104723094_104864919	104831918	A A	AAGAAGAG others(28): Show AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01256.hp1 NA18942.hp1 HG01243.hp1 HG01256.hp1 NA18942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0109 a0001c0002t0001g0120 a0001c0002t0001g0093 a0001c0002t0001g0109 a0001c0002t0001g0120	3	64	0.0469	35	c.534 others(52): Show c.534+1089_534+1123dupCTTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTTCT	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	6/23			chr6	TogoVar
HAS1_chr19_51708112_51728991	51727004	C C	CCTCCATC others(28): Show CCTCCATCCCCTCCTCCCTCAGACCAGGAGTCCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	233	0.0043	35	c.-30 others(46): Show c.-3072_-3071insCCTGGACTCCTGGTCTGAGGGAGGAGGGGATGGA G	HAS1	ENSG00000105509.11	transcript	ENST00000540069.7	protein_coding		3014		chr19	TogoVar
HASPIN_chr17_3718903_3731699	3730454	A A	AAAAAAAA others(28): Show AAAAAAAAAATAAAATAAAAAAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01515.hp2 HG03831.hp2 others(1): Show HG01099.hp2 HG01515.hp2 HG03831.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	4	309	0.0129	35	c.41 others(46): Show c.4122_*4123insAAAAAAAAATAAAATAAAAAAATAAATAAATAAA T	HASPIN	ENSG00000177602.5	transcript	ENST00000325418.5	protein_coding		3756		chr17	TogoVar
HAX1_chr1_154267629_154280875	154277333	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	283	0.0035	35	c.16 others(46): Show c.1632_*1633insATATATATATATATATATATATATATATATATAT A	HAX1	ENSG00000143575.16	transcript	ENST00000328703.12	protein_coding		1459		chr1	TogoVar
HCN1_chr5_45249948_45701380	45539697	A A	ATATTATT others(28): Show ATATTATTTTAAATATTTTAATAAAATATTTAATAT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA19000.hp1 NA19011.hp1 NA18992.hp1 NA19000.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0171 a0001c0001t0011g0155 a0001c0001t0011g0156 a0001c0001t0001g0171 a0001c0001t0011g0155 a0001c0001t0011g0156	3	224	0.0134	35	c.850 others(54): Show c.850-77725_850-77691dupATATTAAATATTTTATTAAAATATTT AAAATAATA	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	2/7			chr5	TogoVar
HCN2_chr19_584881_622159	614028	G G	GGGGGGCG others(28): Show GGGGGGCGTGGCCGGGGCGGGTGCCCTGGCGGGGGA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0092 a0001c0002t0004g0092	1	268	0.0037	35	c.199 others(50): Show c.1990+16_1990+17insGCGTGGCCGGGGCGGGTGCCCTGGCGGGGG AGGGG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HDAC4_chr2_239043168_239406020	239073955	A A	AGCAGGAC others(28): Show AGCAGGACTGAGGGGGGCCGCAGGACTGAGGGGGCC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0181 a0001c0001t0004g0181	1	240	0.0042	35	c.275 others(54): Show c.2751-5383_2751-5349dupGGCCCCCTCAGTCCTGCGGCCCCCCT CAGTCCTGC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26			chr2	TogoVar
HEATR4_chr14_73473484_73563947	73524310	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0154 a0003c0007t0003g0154	1	118	0.0085	35	c.-72 others(52): Show c.-72-1087_-72-1086insATATATATATATATATATATATTTTTTT TTTTTTT	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	2/17			chr14	TogoVar

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