Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CMKLR2_chr2_206170316_206218371	206172842	CGGGAGAG others(99): Show CGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGA CGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGA CGGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0244 a0002c0003t0003g0244	1	295	0.0034	-106	c.32 others(11): Show c.3232_*3337del	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2473		chr2	TogoVar
CNN2_chr19_1021608_1044065	1033707	CGGGAGCG others(99): Show CGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTG GGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGT GTAGACG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02818.hp1 others(1): Show HG01109.hp2 HG01891.hp1 HG02818.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0123 a0001c0001t0006g0127 a0001c0001t0006g0128 others(1): Show a0001c0001t0006g0123 a0001c0001t0006g0127 a0001c0001t0006g0128 a0001c0001t0006g0150	4	372	0.0108	-106	c.390 others(17): Show c.390+1029_390+1134del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNTRL_chr9_121069955_121182610	121092636	ATAATATA others(99): Show ATAATATATATCTATATATAATATATATCTATATATATAATATATATCTA TATATATAATATATATCTATATATATAATATATATCTATATATATATAAT ATATATC	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	326	0.0031	-106	c.348 others(17): Show c.348+2234_349-2144del	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
COG3_chr13_45459939_45541701	45513395	TTATACAT others(99): Show TTATACATATAATATATACATATAAATTATATATATAATATATACATATA AATTATATATATAATATATACATATAAATTATATATATAATATATACATA TAAATTA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0224 a0002c0007t0002g0224	1	336	0.0030	-106	c.180 others(19): Show c.1809+1546_1809+1651del	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL18A1_chr21_45400165_45518720	45490468	GGGTCCCT others(99): Show GGGTCCCTGGGCCTCCGTGTGCCCTCCCGGGTCTCTGGGCCTCCGTGTGC CCACTCCCGGGTCTCTGGGCCTCCGTGTGCCCTCCTGGGTCTCCGTGTGC CCTCTCA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03098.hp1 HG02257.hp1 HG03098.hp1	a0003 a0019 a0003 a0019	a0003c0097 a0019c0067 a0003c0097 a0019c0067	a0003c0097t0001 a0019c0067t0001 a0003c0097t0001 a0019c0067t0001	a0003c0097t0001g0037 a0019c0067t0001g0012 a0003c0097t0001g0037 a0019c0067t0001g0012	2	290	0.0069	-106	c.203 others(17): Show c.2031+155_2032-230del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	20/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
CSMD1_chr8_2930361_4999914	4486124	TATATATA others(99): Show TATATATATATATACATACATATATATATATATACATACATATATATATA TACATACATATATATATATATATATACATACATATATATATATATATATA TACATAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG06807.hp2 others(2): Show HG02258.hp2 HG02622.hp1 HG06807.hp2 NA18906.hp1 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0068 a0001c0115 a0002c0030 others(2): Show a0001c0068 a0001c0115 a0002c0030 a0002c0032 a0002c0036	a0001c0068t0015 a0001c0115t0042 a0002c0030t0018 others(2): Show a0001c0068t0015 a0001c0115t0042 a0002c0030t0018 a0002c0032t0053 a0002c0036t0030	a0001c0068t0015g0049 a0001c0115t0042g0055 a0002c0030t0018g0122 others(2): Show a0001c0068t0015g0049 a0001c0115t0042g0055 a0002c0030t0018g0122 a0002c0032t0053g0061 a0002c0036t0030g0009	5	126	0.0397	-106	c.303 others(19): Show c.303-66165_303-66060del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CTIF_chr18_48534031_48868217	48807493	CAATTTCA others(99): Show CAATTTCAGTTTTGCTTTTTTCATTTAACATTATATAAACATTTTCCCCA TGCTATTGTAAACGTTTCATAAACTTTTTGTTGTTGTGTTTTTTTTTTTT TTTTTTG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG02055.hp2 others(25): Show HG00735.hp1 HG01109.hp1 HG02055.hp2 HG02258.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp2 HG03579.hp1 HG03710.hp2 NA18906.hp1 NA18972.hp2 NA19011.hp2 NA19043.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0036 a0001c0001t0037 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0053 a0002c0004t0010	a0001c0001t0001g0105 a0001c0001t0002g0004 a0001c0001t0002g0029 others(25): Show a0001c0001t0001g0105 a0001c0001t0002g0004 a0001c0001t0002g0029 a0001c0001t0002g0064 a0001c0001t0004g0008 a0001c0001t0004g0084 a0001c0001t0004g0134 a0001c0001t0006g0001 a0001c0001t0007g0040 a0001c0001t0008g0007 a0001c0001t0008g0023 a0001c0001t0008g0139 a0001c0001t0008g0142 a0001c0001t0009g0003 a0001c0001t0013g0127 a0001c0001t0019g0132 a0001c0001t0019g0137 a0001c0001t0022g0009 a0001c0001t0023g0048 a0001c0001t0027g0028 a0001c0001t0027g0034 a0001c0001t0036g0069 a0001c0001t0037g0039 a0001c0001t0042g0053 a0001c0001t0045g0140 a0001c0001t0046g0031 a0001c0001t0053g0094 a0002c0004t0010g0085	28	142	0.1972	-106	c.137 others(19): Show c.1372-9726_1372-9621del	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CYP4V2_chr4_186186567_186218463	186217937	GCAGATTT others(99): Show GCAGATTTCAGCCAACCTTATCTGTAGAGTCAGATAGTAAATCTTCTTGG CTTTTGAGGCCATGCTGCCTCTGTAGCAACTTCTTAACTCTGCCATTGTA AGGTGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0092 a0002c0001t0092	a0002c0001t0092g0006 a0002c0001t0092g0006	1	450	0.0022	-106	c.72 others(11): Show c.7297_*7402del	CYP4V2	ENSG00000145476.16	transcript	ENST00000378802.5	protein_coding		4475		chr4	TogoVar
DCC_chr18_52335197_53540899	52988904	GGTTTTTT others(99): Show GGTTTTTTACATGGTATTATTTTGAAAAATCCAAGCGATATCCCTTTATC ATTACTACAATGTTCTAACTTTGACAACCTAGAAAATAGATTTTTTTTTC AAAAGAT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0022 a0001c0015t0022	a0001c0015t0022g0101 a0001c0015t0022g0101	1	114	0.0088	-106	c.985 others(19): Show c.985+63535_985+63640del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28			chr18	TogoVar
DDX51_chr12_132131594_132149319	132135157	CACGGTGC others(99): Show CACGGTGCCCGCTCCTCCCACCTCCCGAGTATGCCCCGGTGCCCGCTCCT CCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGT GTGCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG02486.hp2 others(1): Show HG02145.hp1 HG02451.hp1 HG02486.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	325	0.0123	-106	c.40 others(11): Show c.4009_*4114del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1436		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136106	ACGGTGCC others(99): Show ACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCC TCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAG TGTGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	332	0.0030	-106	c.30 others(11): Show c.3060_*3165del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		487		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136186	CGCTCCTC others(99): Show CGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCC CGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACG GTGCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02896.hp2 HG03540.hp2 HG02723.hp2 HG02896.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0022 a0002c0002 a0002c0022	a0002c0002t0002 a0002c0022t0004 a0002c0002t0002 a0002c0022t0004	a0002c0002t0002g0003 a0002c0002t0002g0021 a0002c0022t0004g0035 a0002c0002t0002g0003 a0002c0002t0002g0021 a0002c0022t0004g0035	3	322	0.0093	-106	c.29 others(11): Show c.2980_*3085del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		407		chr12	TogoVar
DEUP1_chr11_93325742_93443470	93335170	ATTTACAA others(99): Show ATTTACAAAATGTAATTTCAAGGGGCATTTAGTTATCTTTTTATTATTAC TTTTTAATCTTTCTACTGTCATAGTCATAGGATATGGACTATATGATTTT GACTCTG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01891.hp2 HG03669.hp2 others(1): Show HG01255.hp1 HG01891.hp2 HG03669.hp2 HG04204.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0003 a0002c0002t0007 a0003c0003t0001 a0002c0002t0003 a0002c0002t0007 a0003c0003t0001	a0002c0002t0003g0126 a0002c0002t0007g0125 a0003c0003t0001g0127 others(1): Show a0002c0002t0003g0126 a0002c0002t0007g0125 a0003c0003t0001g0127 a0003c0003t0001g0128	4	366	0.0109	-106	c.29+ others(15): Show c.29+2884_29+2989del	DEUP1	ENSG00000165325.15	transcript	ENST00000298050.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
DHRS12_chr13_51762993_51809163	51774362	AGTATTCT others(99): Show AGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAG TATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTACATGTATT CTCCTAC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02145.hp2 HG02148.hp2 others(3): Show HG01261.hp2 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02698.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0181 a0002c0002t0003g0197 a0002c0002t0003g0209 others(3): Show a0002c0002t0003g0181 a0002c0002t0003g0197 a0002c0002t0003g0209 a0002c0002t0003g0233 a0002c0002t0003g0239 a0002c0002t0003g0246	6	413	0.0145	-106	c.364 others(15): Show c.364-434_364-329del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51774912	AGTATTCT others(99): Show AGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAG TATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTACATGTATT CTCCTAC	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02738.hp2 HG01975.hp1 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0182 a0002c0002t0003g0151 a0002c0002t0001g0182 a0002c0002t0003g0151	2	385	0.0052	-106	c.364 others(15): Show c.364-984_364-879del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DIP2C_chr10_269201_694668	429453	CGGACCCT others(99): Show CGGACCCTGGCTGCCTCCCCCCGGACCCTGGCTGCCTCCCCCCGGACCCT GGCTGCCTCCCCCCGGACCCTGGCTGCCTCCCCCACAGACCCTGGCTGCC TCCCCCT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	88	0.0114	-106	c.395 others(17): Show c.395-6526_395-6421del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIPK1B_chr9_136707572_136729742	136718134	AGGATAGC others(99): Show AGGATAGCGACCCCCGTGTGCTGGCCTCACTGGCCTGGGATAGAGACCAC CGTGTGCTGGCCTCACTGGTCCAGGATAGAGACCACTGTGTGCTGGCCTC ACTGGTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(259): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19059.hp1 NA19059.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0008	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0001c0021 a0002c0003 a0002c0005 a0002c0006 a0002c0007 a0002c0013 a0002c0015 a0005c0019 a0006c0010 a0008c0022	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0002t0002 a0001c0004t0003 a0001c0009t0001 a0001c0021t0003 a0002c0003t0001 a0002c0005t0001 a0002c0006t0004 a0002c0007t0001 a0002c0013t0001 a0002c0015t0001 a0005c0019t0003 a0006c0010t0001 a0008c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(136): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0005g0025 a0001c0001t0006g0028 a0001c0001t0008g0006 a0001c0001t0009g0002 a0001c0002t0002g0201 a0001c0004t0003g0004 a0001c0004t0003g0017 a0001c0004t0003g0041 a0001c0004t0003g0048 a0001c0004t0003g0117 a0001c0004t0003g0177 a0001c0004t0003g0197 a0001c0004t0003g0198 a0001c0004t0003g0200 a0001c0004t0003g0204 a0001c0009t0001g0002 a0001c0009t0001g0015 a0001c0021t0003g0205 a0002c0003t0001g0044 a0002c0003t0001g0083 a0002c0003t0001g0118 a0002c0003t0001g0124 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0210 a0002c0003t0001g0219 a0002c0003t0001g0220 a0002c0005t0001g0024 a0002c0005t0001g0034 a0002c0005t0001g0134 a0002c0005t0001g0135 a0002c0005t0001g0206 a0002c0006t0004g0062 a0002c0006t0004g0123 a0002c0006t0004g0186 a0002c0007t0001g0077 a0002c0013t0001g0143 a0002c0015t0001g0202 a0005c0019t0003g0081 a0006c0010t0001g0063 a0008c0022t0001g0010	262	419	0.6253	-106	c.198 others(15): Show c.198+424_198+529del	DIPK1B	ENSG00000165716.11	transcript	ENST00000371692.9	protein_coding	2/4			chr9	TogoVar
DLC1_chr8_13078361_13519851	13453396	ATATATGT others(99): Show ATATATGTGTATATATATATATATATATGTGTATATATATATGTATATAT ATACATATATATATGTATATATATACATATATATGTATATATATACATAT ATATATG	A A	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA21309.hp2 HG04184.hp2 NA21309.hp2	a0002 a0009 a0002 a0009	a0002c0006 a0009c0013 a0002c0006 a0009c0013	a0002c0006t0008 a0009c0013t0002 a0002c0006t0008 a0009c0013t0002	a0002c0006t0008g0015 a0009c0013t0002g0165 a0002c0006t0008g0015 a0009c0013t0002g0165	2	209	0.0096	-106	c.102 others(21): Show c.1023+45547_1023+45652del	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1442746	CAGCCACT others(99): Show CAGCCACTGGAGGAGACGGATCCGGGCATAGACCCACCAGGCTGCTGGGG GTTCAGCCACTGGGGGAGACGGATCCAGGCATAGACCCTCTAGGCTGCTG TGGGTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02922.hp2 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0019 a0002c0001t0002 a0002c0001t0019	a0002c0001t0002g0032 a0002c0001t0019g0031 a0002c0001t0002g0032 a0002c0001t0019g0031	2	40	0.0500	-106	c.107 others(19): Show c.107-58610_107-58505del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32452393	GGGAAGGG others(99): Show GGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp1 HG01106.hp1 others(8): Show HG00140.hp1 HG01069.hp1 HG01106.hp1 HG01192.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG02145.hp1 HG02293.hp1 HG03490.hp1 NA18966.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0009 a0018 a0020	a0001c0001 a0004c0004 a0004c0054 others(5): Show a0001c0001 a0004c0004 a0004c0054 a0005c0007 a0005c0022 a0009c0015 a0018c0039 a0020c0042	a0001c0001t0001 a0004c0004t0001 a0004c0054t0001 others(5): Show a0001c0001t0001 a0004c0004t0001 a0004c0054t0001 a0005c0007t0001 a0005c0022t0016 a0009c0015t0001 a0018c0039t0001 a0020c0042t0011	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0020 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0020 a0004c0004t0001g0002 a0004c0004t0001g0084 a0004c0054t0001g0003 a0005c0007t0001g0073 a0005c0022t0016g0107 a0009c0015t0001g0098 a0018c0039t0001g0040 a0020c0042t0011g0090	11	119	0.0924	-106	c.360 others(19): Show c.3603+2163_3603+2268del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78			chrX	TogoVar
DOCK3_chr3_50669927_51389198	51016270	TATATCAT others(99): Show TATATCATATATTTCTACATATATATCATATATTTCTACATATATATATC ATATATTTCTACATATATATATCATATATTTCTACATATATATATCATAT ATTTCTA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0091 a0001c0001t0007g0091	1	191	0.0052	-106	c.316 others(19): Show c.316-48177_316-48072del	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DPH7_chr9_137549444_137583925	137550618	AGGGTGCA others(99): Show AGGGTGCAGCTGGGGAGGGGGTGGATCCGGCGTGTAGGGGTACCGCTGGG GAGTGGGTGCAGCTGGGGAGGGGGTGGATCTGGGGTGTGGGGGTGCCGCT GGGGAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	338	0.0030	-106	c.45 others(11): Show c.4515_*4620del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding		3825		chr9	TogoVar
EHD2_chr19_47708422_47748134	47718827	GGGGCCTG others(99): Show GGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGACTGGGGTCTGGACTCC TGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCTGGGTCTGAGGGAG AGGGGCT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0029 a0001c0004t0009g0029	1	396	0.0025	-106	c.502 others(15): Show c.502+246_502+351del	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ERC1_chr12_986223_1500931	1122361	ATCTCTAT others(99): Show ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGT CTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCT CTATCTC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0153 a0001c0001t0021g0153	1	144	0.0069	-106	c.156 others(19): Show c.1569+6330_1569+6435del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ESPNL_chr2_238095340_238138287	238118445	GGTGGATG others(99): Show GGTGGATGGAGGAGAGTGAATGGAGGAGGTGGATGGAAAAGAGTGGATGG TGGGAGATGGAGGAGGGTGGATGGAGAAGGGTGGATGGAGGAGGAATGGA TGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02818.hp2 NA19043.hp2 HG01243.hp2 HG02818.hp2 NA19043.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0018 a0002c0031 a0006c0047 a0001c0018 a0002c0031 a0006c0047	a0001c0018t0003 a0002c0031t0007 a0006c0047t0003 a0001c0018t0003 a0002c0031t0007 a0006c0047t0003	a0001c0018t0003g0033 a0002c0031t0007g0152 a0006c0047t0003g0033 a0001c0018t0003g0033 a0002c0031t0007g0152 a0006c0047t0003g0033	3	406	0.0074	-106	c.987 others(17): Show c.987+1413_987+1518del	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ETNPPL_chr4_108737053_108768053	108747143	TATATAAT others(99): Show TATATAATATATATATATATATTATATATATATATATAATATATATATAT ATTATATATATATATAATATATATATATATATTATATATATATATATAAT ATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00544.hp2 others(97): Show HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00673.hp2 HG01192.hp2 HG01261.hp2 HG01496.hp1 HG01943.hp1 HG01952.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02698.hp2 HG02735.hp1 HG03490.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18972.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19067.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA20905.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0009 a0002c0002 a0008c0009	a0002c0002t0002 a0008c0009t0002 a0002c0002t0002 a0008c0009t0002	a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0005 others(71): Show a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0013 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0035 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0292 a0008c0009t0002g0103	100	365	0.2740	-106	c.108 others(17): Show c.1083-398_1083-293del	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	9/12			chr4	TogoVar
EXOC2_chr6_480154_698139	675972	TCTGAGGT others(99): Show TCTGAGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGCCTCCTCTG GCAACTGCGGTTCCCCATACTCTTCAGCATTACAGAAAGGACAGGTTCCT CTGGCGA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00639.hp1 others(27): Show HG00408.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG01106.hp1 HG02040.hp1 HG02135.hp1 HG02300.hp1 HG02602.hp1 HG03704.hp1 HG03834.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18954.hp2 NA18962.hp1 NA18972.hp2 NA18973.hp2 NA18980.hp1 NA18982.hp1 NA19012.hp1 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA20752.hp1 NA20905.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0006 others(1): Show a0001c0001 a0001c0002 a0003c0006 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0002t0001 a0001c0002t0004 a0001c0002t0010 a0003c0006t0004 a0004c0009t0002	a0001c0001t0001g0007 a0001c0001t0001g0237 a0001c0001t0001g0238 others(27): Show a0001c0001t0001g0007 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0002g0239 a0001c0001t0003g0241 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0004g0145 a0001c0001t0004g0247 a0001c0001t0005g0195 a0001c0001t0005g0256 a0001c0001t0006g0255 a0001c0001t0010g0144 a0001c0002t0001g0114 a0001c0002t0001g0253 a0001c0002t0004g0113 a0001c0002t0004g0250 a0001c0002t0010g0251 a0003c0006t0004g0236 a0003c0006t0004g0243 a0003c0006t0004g0244 a0003c0006t0004g0254 a0004c0009t0002g0194	30	270	0.1111	-106	c.-44 others(19): Show c.-44+16941_-44+17046del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC2_chr6_480154_698139	676897	TGCGGTTC others(99): Show TGCGGTTCCCCATACTCTTCAACATTACAGAAAGGACAGGTTCCTCTGAA GACTCTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGCTTTCT CTGGAGA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03453.hp2 HG02717.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0146 a0001c0001t0008g0147 a0001c0001t0002g0146 a0001c0001t0008g0147	2	270	0.0074	-106	c.-44 others(19): Show c.-44+16016_-44+16121del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC2_chr6_480154_698139	677005	TGCGGTTC others(99): Show TGCGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGCTTTCTCTGGA GACTCTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGCTTTCT CTGGAGA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01123.hp1 HG01167.hp1 others(22): Show HG00323.hp2 HG01123.hp1 HG01167.hp1 HG02015.hp1 HG02055.hp2 HG02132.hp1 HG02451.hp2 HG02717.hp1 HG02723.hp1 HG03041.hp1 HG03942.hp1 NA18522.hp2 NA18906.hp1 NA18946.hp1 NA18971.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18998.hp1 NA19055.hp2 NA19074.hp1 NA19077.hp2 NA19086.hp1 NA20129.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0004c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0022 a0001c0001t0025 a0001c0001t0027 a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0004c0014t0003	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0215 others(22): Show a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0215 a0001c0001t0003g0217 a0001c0001t0007g0212 a0001c0001t0022g0214 a0001c0001t0025g0216 a0001c0001t0027g0272 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0222 a0001c0003t0003g0205 a0001c0003t0003g0208 a0001c0003t0003g0223 a0001c0003t0006g0209 a0001c0004t0001g0003 a0001c0004t0001g0213 a0001c0004t0001g0221 a0001c0004t0004g0210 a0001c0004t0004g0211 a0001c0004t0005g0219 a0001c0004t0005g0220 a0001c0004t0005g0224 a0001c0004t0005g0225 a0004c0014t0003g0218	25	270	0.0926	-106	c.-44 others(19): Show c.-44+15908_-44+16013del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
F13A1_chr6_6139084_6325662	6226945	GAGGGAGA others(99): Show GAGGGAGATGACAGGCAAACTGGCCAGAAAAGGCCATCTACATAGTGGAA ACAGTTTTAATAAATGTGTAGTGTCATGAAACAATATGGCAGGCTCTGGG ACCTTCT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02135.hp2 HG03491.hp2 others(12): Show HG00408.hp1 HG02135.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG04184.hp2 NA18942.hp2 NA18953.hp2 NA18974.hp1 NA18979.hp1 NA18990.hp2 NA19007.hp2 NA19060.hp1 NA19060.hp2 NA20905.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0008 a0015	a0001c0001 a0002c0002 a0005c0005 others(2): Show a0001c0001 a0002c0002 a0005c0005 a0008c0010 a0015c0020	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0005c0005t0002 a0008c0010t0002 a0015c0020t0001	a0001c0001t0001g0047 a0001c0001t0001g0118 a0001c0001t0001g0151 others(11): Show a0001c0001t0001g0047 a0001c0001t0001g0118 a0001c0001t0001g0151 a0001c0001t0001g0285 a0001c0001t0002g0031 a0002c0002t0001g0041 a0002c0002t0002g0020 a0002c0002t0002g0171 a0002c0002t0002g0191 a0002c0002t0002g0274 a0005c0005t0002g0122 a0005c0005t0002g0192 a0008c0010t0002g0001 a0015c0020t0001g0128	15	290	0.0517	-106	c.799 others(17): Show c.799-2191_799-2086del	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	6/14			chr6	TogoVar
FAM50A_chrX_154439141_154455654	154451701	GCAGTGGT others(99): Show GCAGTGGTGCAATCTCAGCTCGCTGCAGCCCCCACCTCCTGGGCTCAAGT GATCCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCACCA CAATGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG03516.hp2 HG01884.hp2 HG02451.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	273	0.0110	-106	c.12 others(11): Show c.1270_*1375del	FAM50A	ENSG00000071859.15	transcript	ENST00000393600.8	protein_coding		1048		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9022617	TATATTAT others(99): Show TATATTATATTATGTATAAGATATAATATATATTATATTATGTATAAGAT ATAATATATATTATATTATGTATAAGATATAATATATATTATGTATAAGA TATAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG03209.hp1 HG02630.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0003 a0001c0001t0001g0040	2	256	0.0078	-106	c.26 others(11): Show c.2686_*2791del	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		1614		chrX	TogoVar
FAN1_chr15_30898915_30948108	30929805	AAATATAT others(99): Show AAATATATAATATATTATATCATATATAATATAATATATAAAATATATAT CATATATAATATATATAAAATATATAATATATATCATATATAATATATAA AATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG06807.hp2 HG02615.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0037 a0001c0001t0001g0038	2	297	0.0067	-106	c.278 others(17): Show c.2787+417_2787+522del	FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
FGL1_chr8_17859389_17900524	17875481	CTCTTTCT others(99): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(154): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18992.hp2 NA18993.hp2 NA18997.hp1 NA19007.hp1 NA19043.hp1 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19067.hp1 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0006 a0007 a0008 a0010 a0012 a0014 a0016	a0001c0001 a0003c0003 a0004c0004 others(7): Show a0001c0001 a0003c0003 a0004c0004 a0006c0006 a0007c0007 a0008c0008 a0010c0009 a0012c0017 a0014c0016 a0016c0013	a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 others(7): Show a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 a0006c0006t0001 a0007c0007t0001 a0008c0008t0002 a0010c0009t0001 a0012c0017t0003 a0014c0016t0001 a0016c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(105): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0003c0003t0001g0004 a0003c0003t0001g0028 a0003c0003t0001g0102 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0106 a0003c0003t0001g0107 a0003c0003t0001g0108 a0003c0003t0001g0109 a0003c0003t0001g0205 a0004c0004t0001g0164 a0006c0006t0001g0122 a0006c0006t0001g0123 a0006c0006t0001g0124 a0006c0006t0001g0125 a0006c0006t0001g0126 a0007c0007t0001g0016 a0007c0007t0001g0156 a0008c0008t0002g0127 a0008c0008t0002g0128 a0008c0008t0002g0129 a0010c0009t0001g0033 a0012c0017t0003g0041 a0014c0016t0001g0158 a0016c0013t0001g0133	157	334	0.4701	-106	c.245 others(16): Show c.245-1066_245-961del	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	3/7			chr8	TogoVar
FLT1_chr13_28295346_28500128	28473341	ACAGCCAA others(99): Show ACAGCCAAAAAGAAACAACCCAGGCCCAGCGCAGTGGCTCACGCCTGTAA CCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACCTGAGGTCAGGAGT TCGAGGC	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	226	0.0044	-106	c.65- others(15): Show c.65-5830_65-5725del	FLT1	ENSG00000102755.13	transcript	ENST00000282397.9	protein_coding	1/29			chr13	TogoVar
FMN1_chr15_32760544_33199714	32949948	TATATATA others(99): Show TATATATATATATATATACACACATATATATACACACACATATATATACA CATACACATATATATATACACATATATATATATATACACATATATATATA TATACAC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0036 a0036	a0036c0047 a0036c0047	a0036c0047t0036 a0036c0047t0036	a0036c0047t0036g0108 a0036c0047t0036g0108	1	194	0.0052	-106	c.313 others(21): Show c.3138+14053_3138+14158del	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	9/20			chr15	TogoVar
FTHL17_chrX_31066233_31077041	31070562	CTTCTTGC others(99): Show CTTCTTGCCTGTATGGCCTCCCTTTTTGTCACTAATAAAGTCATGATACT TGTCCTTCCTTCTTCCTGAGATTCTTGTAAAAACAAAGTACAACAATGTA AATAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	334	0.0030	-106	c.73 others(9): Show c.734_*839del	FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding		670		chrX	TogoVar
GABRG3_chr15_26966181_27546984	27307477	ATAGGTTT others(99): Show ATAGGTTTATAGGTTTATATATTTATATATAAACATAGGTTTATAGGTTT ATATATTTATATATAAACATAGGTTTATAGGTTTATATATTTATATATAA ACAGGTT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	85	0.0118	-106	c.271 others(19): Show c.271-19329_271-19224del	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GAL3ST2_chr2_241771822_241809287	241806161	CCCCTCAG others(99): Show CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01943.hp2 HG02055.hp2 others(1): Show HG00544.hp2 HG01943.hp2 HG02055.hp2 NA18948.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0011 a0001c0001 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0003c0011t0001 a0001c0001t0001 a0001c0001t0002 a0003c0011t0001	a0001c0001t0001g0190 a0001c0001t0002g0002 a0003c0011t0001g0089 a0001c0001t0001g0190 a0001c0001t0002g0002 a0003c0011t0001g0089	4	280	0.0143	-106	c.19 others(11): Show c.1996_*2101del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1875		chr2	TogoVar
GLB1L3_chr11_134271379_134324564	134308274	CCACCACC others(99): Show CCACCACCAAATACCACCACCACCACCACCACCACCACTACCACCACCAT CACCATCACCATCACCATCATCACCATCACCACTACCACCACCACCACCA CCACCAT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0011 a0001c0016t0011	a0001c0016t0011g0101 a0001c0016t0011g0101	1	407	0.0025	-106	c.961 others(17): Show c.961+1075_961+1180del	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GMEB2_chr20_63582605_63632101	63609098	CCTCTGAC others(99): Show CCTCTGACCCACCTCCATTTCCAGAAACATGCCCCTCTGACCCCACACAT CCATTTCTAGAAACATGTCCCTCTGACTCACCTCCATTTCTAGAAACATG CCACTCT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	328	0.0030	-106	c.132 others(17): Show c.132-4364_132-4259del	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMPR_chr6_16233587_16300549	16266386	GGACGTGC others(99): Show GGACGTGCCACCTTTAAGAGCTGTAACACTCACTGTGAAAAAGGTGGCAC GTCGGACGTGCCACCTTTAAGAGCTGTAACACTTCCTGTGGAAAAGGTGG CACGTCC	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0274 a0002c0002t0002g0274	1	342	0.0029	-106	c.466 others(17): Show c.466-8000_466-7895del	GMPR	ENSG00000137198.10	transcript	ENST00000259727.5	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
GNAL_chr18_11684264_11890685	11768977	ATTATATA others(99): Show ATTATATATTCTATATTATAATATAGAATATATATATTCTATATTATAAT ATATTATATATAATATATAATATATATAATATATATTATAATATAGATTA TATAAAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0066 a0002c0002t0066	a0002c0002t0066g0227 a0002c0002t0066g0227	1	246	0.0041	-106	c.624 others(19): Show c.624+15034_624+15139del	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11768977	ATTATATA others(99): Show ATTATATATTCTATATTATAATATAGAATATATATATTCTATATTATAAT ATATTATATATAATATATAATATATATAATATATATTATAATATAGATTA TATAAAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0161 a0001c0001t0161	a0001c0001t0161g0282 a0001c0001t0161g0282	1	282	0.0035	-106	c.393 others(19): Show c.393+15034_393+15139del	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GOLGA4_chr3_37238271_37371879	37257904	TATATATA others(99): Show TATATATATATGTATGTATATATGTATATATACATACATATATATGTATG TATATATGTATATATACATACATATATATATGTATGTATATATGTATATA TACATAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp2 HG01168.hp2 others(8): Show HG01074.hp1 HG01099.hp2 HG01168.hp2 HG01256.hp1 HG01891.hp2 HG01981.hp2 HG02647.hp2 HG02965.hp2 HG03041.hp1 HG03130.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0188 others(8): Show a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0195 a0003c0003t0001g0196	11	261	0.0421	-106	c.162 others(17): Show c.162+6465_162+6570del	GOLGA4	ENSG00000144674.19	transcript	ENST00000361924.7	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr3	TogoVar
GPBP1_chr5_57169059_57269673	57219972	ACCTGGGA others(99): Show ACCTGGGAGGCAGAGGTTGTAGTGAGCTGAGATCGTGTCATTGCACTTCA GCCTGGGCAACAAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAATCTG GAAAGAT	A A	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	288	0.0035	-106	c.63+ others(15): Show c.63+5780_63+5885del	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	3/11			chr5	TogoVar
GSTT2B_chr22_23952414_23966195	23954661	CATACACC others(99): Show CATACACCCACATACACAAATTCACACTGCTCAGTCACATTTACACACCA TTCAAATTCACACACATATACACCTACATACACACAGTTCACTCACATCA CACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA19090.hp1 NA18954.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0057 a0001c0001t0001g0001 a0001c0001t0001g0057	2	118	0.0169	-106	c.29 others(11): Show c.2956_*3061del	GSTT2B	ENSG00000133433.11	transcript	ENST00000290765.9	protein_coding		2752		chr22	TogoVar
GYG2_chrX_2823930_2887818	2844504	ATATATGT others(99): Show ATATATGTGTATACGCACACGCATGCGTATATATGTGTATACGCACACGC ATGCGTATATGTGTATACGCACACGCATGCGTATATGTGTATACGCACAC GCATGCG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0107 a0002c0005t0006g0107	1	236	0.0042	-106	c.149 others(17): Show c.149+1182_149+1287del	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
HIP1_chr7_75528298_75743941	75663962	ATATATAT others(99): Show ATATATATATACACATATATGTGTATATATATACACATATATGTGTATAT ATATACACATATATGTGTATATATATACACATATATGTGTATATACACAT ATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(74): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00609.hp2 HG00639.hp2 HG00738.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02109.hp1 HG02145.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 NA18953.hp1 NA18964.hp2 NA18967.hp1 NA18971.hp1 NA18989.hp1 NA18993.hp2 NA19030.hp1 NA19056.hp2 NA19070.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0010	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0015 a0002c0004 a0003c0006 a0004c0008 a0007c0016 a0010c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0029 a0001c0001t0034 a0001c0002t0001 a0001c0002t0004 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0016 a0001c0003t0024 a0001c0005t0001 a0001c0007t0005 a0001c0015t0001 a0002c0004t0001 a0003c0006t0004 a0004c0008t0019 a0007c0016t0003 a0010c0021t0005	a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0046 others(74): Show a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0119 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0186 a0001c0001t0001g0207 a0001c0001t0002g0035 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0237 a0001c0001t0003g0022 a0001c0001t0003g0049 a0001c0001t0003g0057 a0001c0001t0003g0097 a0001c0001t0003g0124 a0001c0001t0004g0021 a0001c0001t0004g0044 a0001c0001t0004g0070 a0001c0001t0004g0178 a0001c0001t0005g0037 a0001c0001t0005g0086 a0001c0001t0005g0236 a0001c0001t0008g0136 a0001c0001t0009g0036 a0001c0001t0010g0152 a0001c0001t0010g0154 a0001c0001t0011g0225 a0001c0001t0014g0038 a0001c0001t0017g0047 a0001c0001t0017g0069 a0001c0001t0018g0067 a0001c0001t0020g0155 a0001c0001t0022g0250 a0001c0001t0023g0249 a0001c0001t0023g0253 a0001c0001t0027g0138 a0001c0001t0029g0080 a0001c0001t0034g0129 a0001c0002t0001g0052 a0001c0002t0004g0048 a0001c0003t0002g0078 a0001c0003t0007g0066 a0001c0003t0007g0185 a0001c0003t0009g0062 a0001c0003t0016g0137 a0001c0003t0024g0248 a0001c0005t0001g0058 a0001c0007t0005g0140 a0001c0015t0001g0055 a0002c0004t0001g0001 a0003c0006t0004g0125 a0004c0008t0019g0053 a0007c0016t0003g0135 a0010c0021t0005g0088	77	201	0.3831	-106	c.121 others(19): Show c.121-64821_121-64716del	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30			chr7	TogoVar
HMCN2_chr9_130260760_130439123	130277855	ACCACCAT others(99): Show ACCACCATCATCATCATCACCACCACCATCATCATCACCACCACCATCAT CATCACCACCACCACCATCATCATCATCACCACCACCATCATCATCATCA CCACCAC	A A	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	256	0.0039	-106	c.260 others(17): Show c.260-6746_260-6641del	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	1/97		INFO_REALIGN_3_PRIME	chr9	TogoVar

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