Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GTF3C1_chr16_27455613_27554913	27525185	T T	TAAAAGAA others(13): Show TAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02896.hp2 HG02965.hp1 others(10): Show HG02258.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 NA19043.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0033 others(8): Show a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0003t0001g0005 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0028	13	220	0.0591	20	c.973 others(37): Show c.973+3393_973+3412dupCTTTTCTTTTCTTTTCTTTT	GTF3C1	ENSG00000077235.18	transcript	ENST00000356183.9	protein_coding	6/36			chr16	TogoVar
GTF3C3_chr2_196758035_196804683	196781355	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	252	0.0040	20	c.111 others(37): Show c.1115-694_1115-693insATATATATATATATATATAT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781357	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG00741.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0209 a0001c0001t0002g0210	2	252	0.0079	20	c.111 others(37): Show c.1115-696_1115-695insATTTTTTTTTTTTTTTTTTT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781357	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	252	0.0040	20	c.111 others(37): Show c.1115-696_1115-695insATATTTTTTTTTTTTTTTTT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781357	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	252	0.0040	20	c.111 others(37): Show c.1115-696_1115-695insATATATTTTTTTTTTTTTTT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781357	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	252	0.0040	20	c.111 others(37): Show c.1115-715_1115-696dupATATATATATATATATATAT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C6_chr6_110953706_110972872	110958467	A A	ACTCCCTA others(13): Show ACTCCCTAGGTCGCAGGGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00597.hp1 others(58): Show HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00673.hp1 HG00673.hp2 HG01257.hp1 HG01433.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp2 HG02486.hp1 HG02647.hp1 HG02717.hp2 HG02738.hp1 HG02965.hp2 HG03834.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18952.hp2 NA18954.hp2 NA18959.hp1 NA18961.hp1 NA18964.hp1 NA18969.hp1 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18987.hp2 NA18992.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19011.hp2 NA19054.hp2 NA19057.hp1 NA19064.hp1 NA19067.hp1 NA19076.hp2 NA19079.hp2 NA19082.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0022 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0073 a0001c0001t0002g0074	61	346	0.1763	20	c.-30 others(29): Show c.-303_-302insCTCCCTAGGTCGCAGGGCCT	GTF3C6	ENSG00000155115.7	transcript	ENST00000329970.8	protein_coding		238		chr6	TogoVar
GTPBP10_chr7_90341716_90396453	90371010	G G	GATAAATA others(13): Show GATAAATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0036 a0004c0004t0036	a0004c0004t0036g0061 a0004c0004t0036g0061	1	390	0.0026	20	c.465 others(37): Show c.465-1125_465-1106dupAATAAATAAATAAATAAATA	GTPBP10	ENSG00000105793.16	transcript	ENST00000222511.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTPBP1_chr22_38700944_38738587	38704273	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0148 a0001c0001t0009g0148	1	382	0.0026	20	c.-16 others(31): Show c.-1683_-1682insTTTTTTTTTTTTTTTTTTTT	GTPBP1	ENSG00000100226.16	transcript	ENST00000216044.10	protein_coding		1670		chr22	TogoVar
GTPBP6_chrX_299759_323796	315685	T T	TACACACG others(13): Show TACACACGCAGACACACACAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02486.hp1 HG02970.hp2 others(4): Show HG01071.hp1 HG02486.hp1 HG02970.hp2 HG03491.hp1 HG03654.hp2 HG06807.hp2 NA19002.hp2	a0001 a0002 a0014 others(1): Show a0001 a0002 a0014 a0015	a0001c0003 a0002c0002 a0014c0023 others(1): Show a0001c0003 a0002c0002 a0014c0023 a0015c0022	a0001c0003t0001 a0002c0002t0001 a0014c0023t0001 others(1): Show a0001c0003t0001 a0002c0002t0001 a0014c0023t0001 a0015c0022t0004	a0001c0003t0001g0081 a0002c0002t0001g0109 a0002c0002t0001g0120 others(4): Show a0001c0003t0001g0081 a0002c0002t0001g0109 a0002c0002t0001g0120 a0002c0002t0001g0131 a0002c0002t0001g0139 a0014c0023t0001g0075 a0015c0022t0004g0103	7	155	0.0452	20	c.488 others(35): Show c.488-387_488-386insGTGTGTGTGTCTGCGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GUCA1A_chr6_42168364_42185056	42182828	G G	GCTTCCTT others(13): Show GCTTCCTTCCTTCCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0037 a0001c0001t0008g0037	1	412	0.0024	20	c.34 others(31): Show c.3425_*3426insCTTCCTTCCTTCCTTCCTTC	GUCA1A	ENSG00000048545.18	transcript	ENST00000372958.2	protein_coding		2773		chr6	TogoVar
GUCA1B_chr6_42178284_42199956	42182828	G G	GCTTCCTT others(13): Show GCTTCCTTCCTTCCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0168 a0001c0002t0009g0168	1	418	0.0024	20	c.19 others(31): Show c.1986_*1987insGAAGGAAGGAAGGAAGGAAG	GUCA1B	ENSG00000112599.9	transcript	ENST00000230361.4	protein_coding		455		chr6	TogoVar
GUCA1C_chr3_108902792_108958879	108939324	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02135.hp1 HG03831.hp1 HG00323.hp2 HG02135.hp1 HG03831.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0011 a0002c0002 a0010c0011	a0002c0002t0001 a0010c0011t0001 a0002c0002t0001 a0010c0011t0001	a0002c0002t0001g0275 a0002c0002t0001g0313 a0010c0011t0001g0290 a0002c0002t0001g0275 a0002c0002t0001g0313 a0010c0011t0001g0290	3	374	0.0080	20	c.204 others(39): Show c.204+14215_204+14234dupAAAAAAAAAAAAAAAAAAAA	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	1/3			chr3	TogoVar
GUCA2A_chr1_42157690_42169745	42159195	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAGAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(132): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00733.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18983.hp2 NA18985.hp1 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA18997.hp2 NA19002.hp1 NA19005.hp1 NA19011.hp2 NA19054.hp2 NA19060.hp1 NA19068.hp2 NA19074.hp2 NA19076.hp1 NA19083.hp1 NA19084.hp1 NA19089.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0009 a0001c0001 a0002c0002 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0006c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0004 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0030 a0002c0002t0001g0031 a0006c0009t0001g0029	135	436	0.3096	20	c.37 others(31): Show c.3710_*3711insTTTTCTTTTTTTTTTTTTTT	GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding		3494		chr1	TogoVar
GUCA2A_chr1_42157690_42169745	42159195	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAGAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00597.hp2 others(107): Show HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01255.hp1 HG01261.hp2 HG01433.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02683.hp1 HG02723.hp1 HG02895.hp2 HG02965.hp2 HG03225.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04228.hp2 NA18941.hp2 NA18945.hp2 NA18955.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18987.hp2 NA18993.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19007.hp2 NA19054.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19072.hp2 NA19076.hp2 NA19078.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0017 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0002g0004 a0001c0001t0004g0019	110	436	0.2523	20	c.37 others(31): Show c.3710_*3711insTTTTTCTTTTTTTTTTTTTT	GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding		3494		chr1	TogoVar
GUCA2A_chr1_42157690_42169745	42159209	A A	AAGAAAAA others(13): Show AAGAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	436	0.0023	20	c.36 others(31): Show c.3696_*3697insCTTTTTTTTTTTTTTTTTCT	GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding		3480		chr1	TogoVar
GUCA2B_chr1_42148410_42160820	42159195	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAGAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(130): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00733.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp2 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02976.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18953.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18968.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18995.hp2 NA18997.hp2 NA19002.hp1 NA19005.hp1 NA19011.hp1 NA19054.hp2 NA19060.hp1 NA19064.hp1 NA19068.hp1 NA19074.hp1 NA19076.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0005c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0007t0001 a0005c0006t0001	a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0015 others(4): Show a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0003g0002 a0001c0007t0001g0002 a0005c0006t0001g0014	133	442	0.3009	20	c.35 others(31): Show c.3599_*3600insAAAAAAAAAAAAAAAGAAAA	GUCA2B	ENSG00000044012.4	transcript	ENST00000372581.2	protein_coding		3376		chr1	TogoVar
GUCA2B_chr1_42148410_42160820	42159195	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAGAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00597.hp2 others(112): Show HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01433.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02683.hp2 HG02723.hp1 HG02895.hp2 HG02965.hp2 HG03225.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04228.hp1 NA18939.hp1 NA18941.hp1 NA18945.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18987.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19054.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19072.hp2 NA19076.hp1 NA19078.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0009 a0001c0001 a0001c0002 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0007c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0002g0001 a0001c0001t0004g0004 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0007 a0007c0009t0001g0001	115	442	0.2602	20	c.35 others(31): Show c.3599_*3600insAAAAAAAAAAAAAAGAAAAA	GUCA2B	ENSG00000044012.4	transcript	ENST00000372581.2	protein_coding		3376		chr1	TogoVar
GUCA2B_chr1_42148410_42160820	42159209	A A	AAGAAAAA others(13): Show AAGAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	442	0.0023	20	c.36 others(31): Show c.3613_*3614insAGAAAAAAAAAAAAAAAAAG	GUCA2B	ENSG00000044012.4	transcript	ENST00000372581.2	protein_coding		3390		chr1	TogoVar
GUCY1A2_chr11_106669019_107023476	106730059	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02027.hp2 HG02080.hp2 others(1): Show HG00639.hp1 HG02027.hp2 HG02080.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0038 a0001c0004t0001 a0001c0001t0005 a0001c0001t0038 a0001c0004t0001	a0001c0001t0005g0134 a0001c0001t0005g0165 a0001c0001t0038g0092 others(1): Show a0001c0001t0005g0134 a0001c0001t0005g0165 a0001c0001t0038g0092 a0001c0004t0001g0212	4	256	0.0156	20	c.183 others(41): Show c.1837-21413_1837-21394dupATATATATATATATATATAT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106740648	C C	CTGTATGT others(13): Show CTGTATGTATGTATGTATGTA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01496.hp2 NA18953.hp1 others(2): Show HG01358.hp1 HG01496.hp2 NA18953.hp1 NA19010.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0005 a0001c0002t0002 a0001c0006t0005 a0001c0001t0005 a0001c0002t0002 a0001c0006t0005	a0001c0001t0005g0101 a0001c0002t0002g0185 a0001c0002t0002g0186 others(2): Show a0001c0001t0005g0101 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0006t0005g0210 a0001c0006t0005g0213	5	256	0.0195	20	c.183 others(41): Show c.1837-32002_1837-31983dupTACATACATACATACATACA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106909355	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp1 HG01346.hp2 others(12): Show HG00642.hp2 HG01243.hp1 HG01346.hp2 HG01496.hp2 HG02080.hp1 HG02083.hp1 HG02145.hp1 HG02647.hp1 HG02886.hp1 HG03225.hp1 NA18964.hp2 NA18975.hp1 NA19064.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0040 a0001c0001t0041 a0001c0001t0053 a0001c0001t0071 a0001c0002t0002 a0001c0002t0017 a0001c0002t0039 a0001c0003t0016 a0001c0005t0020	a0001c0001t0001g0039 a0001c0001t0001g0097 a0001c0001t0002g0013 others(12): Show a0001c0001t0001g0039 a0001c0001t0001g0097 a0001c0001t0002g0013 a0001c0001t0002g0093 a0001c0001t0005g0095 a0001c0001t0007g0159 a0001c0001t0040g0078 a0001c0001t0041g0063 a0001c0001t0053g0099 a0001c0001t0071g0077 a0001c0002t0002g0185 a0001c0002t0017g0224 a0001c0002t0039g0215 a0001c0003t0016g0244 a0001c0005t0020g0046	15	256	0.0586	20	c.120 others(41): Show c.1206+30085_1206+30104dupCACACACACACACACACACA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	4/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106922662	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0253 a0001c0003t0003g0253	1	256	0.0039	20	c.120 others(41): Show c.1206+16778_1206+16797dupATATATATATATATATATAT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	4/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106944212	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0085 a0001c0001t0019g0085	1	256	0.0039	20	c.488 others(37): Show c.488-4035_488-4034insTTTTTTTTTTTTTTTTTTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	3/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106944215	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01070.hp1 HG01070.hp2 others(25): Show HG00408.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01243.hp2 HG01346.hp1 HG01515.hp2 HG01517.hp1 HG02145.hp1 HG02280.hp1 HG02723.hp2 HG02735.hp2 HG02886.hp1 HG02965.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03942.hp2 HG04228.hp2 NA18954.hp2 NA18988.hp1 NA19058.hp1 NA19090.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0033 a0001c0001t0062 a0001c0002t0012 a0001c0002t0017 a0001c0002t0021 a0001c0002t0032 a0001c0002t0039 a0001c0003t0002 a0001c0003t0003 a0001c0003t0014 a0001c0003t0016 a0001c0003t0029 a0001c0003t0050 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0006 a0001c0005t0004 a0001c0005t0015 a0001c0005t0020 a0001c0006t0005	a0001c0001t0001g0023 a0001c0001t0002g0006 a0001c0001t0002g0050 others(25): Show a0001c0001t0001g0023 a0001c0001t0002g0006 a0001c0001t0002g0050 a0001c0001t0006g0175 a0001c0001t0033g0004 a0001c0001t0062g0005 a0001c0002t0012g0177 a0001c0002t0012g0181 a0001c0002t0017g0224 a0001c0002t0021g0178 a0001c0002t0021g0179 a0001c0002t0032g0180 a0001c0002t0039g0215 a0001c0003t0002g0254 a0001c0003t0003g0241 a0001c0003t0014g0239 a0001c0003t0016g0244 a0001c0003t0029g0240 a0001c0003t0050g0250 a0001c0004t0001g0190 a0001c0004t0002g0214 a0001c0004t0003g0223 a0001c0004t0006g0220 a0001c0005t0004g0048 a0001c0005t0015g0044 a0001c0005t0020g0046 a0001c0005t0020g0047 a0001c0006t0005g0210	28	256	0.1094	20	c.488 others(37): Show c.488-4057_488-4038dupTTTTTTTTTTTTTTTTTTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	3/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106971219	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0029 a0001c0001t0044g0029	1	256	0.0039	20	c.487 others(37): Show c.487+7380_487+7399dupCACACACACACACACACACA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	3/7			chr11	TogoVar
GUK1_chr1_228135279_228153951	228137395	G G	GTGTTGTA others(13): Show GTGTTGTATCCTTTCAAATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	422	0.0024	20	c.-29 others(31): Show c.-2908_-2907insTGTTGTATCCTTTCAAATGT	GUK1	ENSG00000143774.18	transcript	ENST00000453943.6	protein_coding		2883		chr1	TogoVar
GULP1_chr2_188286874_188600926	188352616	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0063 a0001c0001t0004g0063	1	162	0.0062	20	c.-17 others(41): Show c.-171-31146_-171-31145insACACACACACACACACACAC	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
GULP1_chr2_188286874_188600926	188352618	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02451.hp2 NA18522.hp1 HG00738.hp1 HG02451.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0001 a0001c0001t0008 a0001c0001t0010	a0001c0001t0001g0148 a0001c0001t0008g0037 a0001c0001t0010g0014 a0001c0001t0001g0148 a0001c0001t0008g0037 a0001c0001t0010g0014	3	162	0.0185	20	c.-17 others(41): Show c.-171-31133_-171-31114dupACACACACACACACACACAC	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
GULP1_chr2_188286874_188600926	188352618	T T	TCTCACAC others(13): Show TCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18906.hp1 HG01081.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0003 a0001c0001t0022	a0001c0001t0003g0002 a0001c0001t0022g0082 a0001c0001t0003g0002 a0001c0001t0022g0082	2	162	0.0124	20	c.-17 others(41): Show c.-171-31144_-171-31143insTCACACACACACACACACAC	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
GULP1_chr2_188286874_188600926	188352649	C C	CACACACA others(13): Show CACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp2 HG02809.hp1 others(1): Show HG02145.hp1 HG02572.hp2 HG02809.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013	a0001c0001t0003g0028 a0001c0001t0009g0021 a0001c0001t0011g0030 others(1): Show a0001c0001t0003g0028 a0001c0001t0009g0021 a0001c0001t0011g0030 a0001c0001t0013g0018	4	162	0.0247	20	c.-17 others(41): Show c.-171-31114_-171-31113insACACACACACACACACACAT	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11			chr2	TogoVar
GULP1_chr2_188286874_188600926	188514040	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03453.hp1 HG03239.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0150 a0001c0001t0001g0115 a0001c0001t0001g0150	2	162	0.0124	20	c.91- others(35): Show c.91-8692_91-8673dupTGTGTGTGTGTGTGTGTGTG	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
GXYLT1_chr12_42076845_42149874	42098760	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG01175.hp2 others(21): Show HG00408.hp2 HG00609.hp2 HG01175.hp2 HG01515.hp2 HG02040.hp1 HG02040.hp2 HG02109.hp1 HG02132.hp1 HG02165.hp1 HG02523.hp2 HG02818.hp1 HG03041.hp1 HG03654.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp2 NA18952.hp1 NA18953.hp1 NA18960.hp1 NA18968.hp2 NA18980.hp1 NA19004.hp1 NA19006.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0010 a0001c0002t0003 a0001c0003t0001 others(1): Show a0001c0001t0010 a0001c0002t0003 a0001c0003t0001 a0001c0003t0013	a0001c0001t0010g0023 a0001c0002t0003g0002 a0001c0002t0003g0008 others(17): Show a0001c0001t0010g0023 a0001c0002t0003g0002 a0001c0002t0003g0008 a0001c0002t0003g0010 a0001c0002t0003g0091 a0001c0002t0003g0169 a0001c0002t0003g0193 a0001c0002t0003g0237 a0001c0003t0001g0100 a0001c0003t0001g0109 a0001c0003t0001g0110 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0157 a0001c0003t0001g0205 a0001c0003t0001g0210 a0001c0003t0001g0217 a0001c0003t0001g0222 a0001c0003t0013g0150 a0001c0003t0013g0154	24	398	0.0603	20	c.865 others(35): Show c.865-747_865-728dupATATATATATATATATATAT	GXYLT1	ENSG00000151233.11	transcript	ENST00000398675.8	protein_coding	5/7			chr12	TogoVar
GXYLT1_chr12_42076845_42149874	42098782	T T	TATATATA others(13): Show TATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0153 a0001c0003t0001g0153	1	398	0.0025	20	c.865 others(35): Show c.865-750_865-749insTTATATATATATATATATAT	GXYLT1	ENSG00000151233.11	transcript	ENST00000398675.8	protein_coding	5/7			chr12	TogoVar
GXYLT1_chr12_42076845_42149874	42136751	T T	TATACATA others(13): Show TATACATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01517.hp2 HG02165.hp2 others(7): Show HG00642.hp2 HG01517.hp2 HG02165.hp2 HG02630.hp2 HG03654.hp1 NA18941.hp1 NA18948.hp1 NA18990.hp2 NA18993.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0016 a0001c0002t0003 others(3): Show a0001c0001t0002 a0001c0001t0016 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0013	a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0016g0084 others(7): Show a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0016g0084 a0001c0002t0003g0195 a0001c0002t0004g0069 a0001c0002t0004g0071 a0001c0003t0001g0100 a0001c0003t0001g0138 a0001c0003t0001g0153 a0001c0003t0013g0154	10	398	0.0251	20	c.222 others(37): Show c.222-6920_222-6901dupGTATGTATGTATGTATGTAT	GXYLT1	ENSG00000151233.11	transcript	ENST00000398675.8	protein_coding	1/7			chr12	TogoVar
GXYLT2_chr3_72883046_72981915	72954399	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03195.hp2 HG02970.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0013 a0001c0001t0001 a0001c0002t0013	a0001c0001t0001g0065 a0001c0002t0013g0043 a0001c0001t0001g0065 a0001c0002t0013g0043	2	296	0.0068	20	c.601 others(35): Show c.601-683_601-664dupGTGTGTGTGTGTGTGTGTGT	GXYLT2	ENSG00000172986.13	transcript	ENST00000389617.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
GYG1_chr3_148986540_149036775	149022498	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01515.hp1 NA18968.hp2 HG01496.hp1 HG01515.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0213 a0001c0001t0002g0270 a0001c0001t0002g0272	3	414	0.0073	20	c.609 others(37): Show c.609-1537_609-1536insTTTTTTTTTTTTTTTTTTTT	GYG1	ENSG00000163754.18	transcript	ENST00000345003.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
GYG2_chrX_2823930_2887818	2845005	T T	TTATATAC others(13): Show TTATATACACATGTGTATGTA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	316	0.0032	20	c.149 others(37): Show c.149+1655_149+1674dupATACACATGTGTATGTATAT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845029	T T	TTATATAC others(13): Show TTATATACACATGTGTATGTA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	316	0.0032	20	c.149 others(37): Show c.149+1685_149+1704dupATGTGTATGTATATATACAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845073	T T	TTATATAC others(13): Show TTATATACACATGTGTATGTA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02004.hp1 NA18950.hp1 others(4): Show HG00423.hp2 HG02004.hp1 NA18950.hp1 NA18962.hp1 NA18993.hp2 NA19043.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 a0002c0002t0005	a0001c0001t0001g0214 a0001c0001t0001g0234 a0001c0001t0002g0189 others(4): Show a0001c0001t0001g0214 a0001c0001t0001g0234 a0001c0001t0002g0189 a0001c0001t0003g0274 a0001c0001t0003g0275 a0002c0002t0002g0253 a0002c0002t0005g0122	7	316	0.0222	20	c.149 others(37): Show c.149+1728_149+1729insATGTGTATGTATATATACAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845567	G G	GTATCTAT others(13): Show GTATCTATATATACACGTGTA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	316	0.0063	20	c.149 others(37): Show c.149+2216_149+2217insCTATATATACACGTGTATAT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845567	G G	GTATGTAT others(13): Show GTATGTATATATACACGTGTA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0296 a0002c0002t0005g0296	1	316	0.0032	20	c.149 others(37): Show c.149+2216_149+2217insGTATATATACACGTGTATAT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GZMK_chr5_55019256_55039570	55022321	C C	CCACACAC others(13): Show CCACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01243.hp2 HG01257.hp2 others(17): Show HG00438.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01884.hp1 HG01891.hp1 HG02257.hp2 HG02622.hp2 HG02723.hp1 HG02976.hp2 HG03098.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp2 HG04228.hp1 NA18966.hp2 NA18970.hp2 NA18987.hp2 NA19057.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0002g0001 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0002g0001 a0001c0001t0002g0037 a0001c0001t0003g0001 a0001c0001t0003g0112 a0001c0001t0004g0001 a0001c0001t0011g0054 a0001c0001t0011g0055 a0001c0001t0013g0033 a0001c0001t0015g0027 a0001c0002t0001g0001	20	464	0.0431	20	c.-20 others(31): Show c.-2002_-2001insCACACACACACACACACACA	GZMK	ENSG00000113088.6	transcript	ENST00000231009.3	protein_coding		1934		chr5	TogoVar
GZMM_chr19_539053_554922	548757	C C	CCGCTGCC others(13): Show CCGCTGCCGACCCTCCCCCCG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG02280.hp2 others(6): Show HG00642.hp1 HG00741.hp1 HG02280.hp2 HG02486.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp2 HG03471.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0086 others(4): Show a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0112 a0001c0001t0001g0131 a0001c0001t0001g0175	9	398	0.0226	20	c.348 others(34): Show c.348+82_348+101dupGCTGCCGACCCTCCCCCCGC	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(13): Show CCCTCCCTCCCTCCCTCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG01071.hp1 others(14): Show HG00642.hp1 HG01070.hp1 HG01071.hp1 HG01192.hp2 HG01255.hp2 HG01516.hp1 HG01517.hp1 HG02055.hp2 HG02451.hp2 HG02896.hp1 HG02897.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA19004.hp2 NA19240.hp1 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0019 a0001c0001 a0001c0003 a0005c0019	a0001c0001t0001 a0001c0003t0001 a0005c0019t0001 a0001c0001t0001 a0001c0003t0001 a0005c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0033 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0003t0001g0006 a0001c0003t0001g0111 a0001c0003t0001g0114 a0005c0019t0001g0006	17	422	0.0403	20	c.-46 others(31): Show c.-4694_-4693insCCTCCCTCCCTCCCTCCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(13): Show CCCTCCCTCCCTCCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG01168.hp2 others(13): Show HG00408.hp1 HG00621.hp2 HG01168.hp2 HG01433.hp2 HG02015.hp2 HG02451.hp1 HG02970.hp1 HG03098.hp1 HG03225.hp2 HG03239.hp2 HG04204.hp1 NA18950.hp2 NA18999.hp1 NA19060.hp1 NA19066.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0007 a0001c0001 a0001c0003 a0005c0007	a0001c0001t0001 a0001c0003t0001 a0005c0007t0001 a0001c0001t0001 a0001c0003t0001 a0005c0007t0001	a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0105 others(7): Show a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0105 a0001c0003t0001g0014 a0001c0003t0001g0030 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0003t0001g0110 a0001c0003t0001g0112 a0005c0007t0001g0109	16	422	0.0379	20	c.-46 others(31): Show c.-4694_-4693insCCTCCCTCCCTCCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(13): Show CCCTCCCTCCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 NA20752.hp1 HG03486.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0004 a0001c0001t0001 a0003c0004t0004	a0001c0001t0001g0116 a0003c0004t0004g0043 a0001c0001t0001g0116 a0003c0004t0004g0043	2	422	0.0047	20	c.-46 others(31): Show c.-4694_-4693insCCTCCCTCCCTTCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(13): Show CCCTCCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG02572.hp1 HG00738.hp2 HG02572.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0004 a0003c0004t0001 a0003c0004t0004	a0003c0004t0001g0100 a0003c0004t0004g0043 a0003c0004t0001g0100 a0003c0004t0004g0043	2	422	0.0047	20	c.-46 others(31): Show c.-4694_-4693insCCTCCCTTCCTTCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTTCCT others(13): Show CCCTTCCTTCCTCCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0003 a0009c0014t0001g0003	1	422	0.0024	20	c.-46 others(31): Show c.-4694_-4693insCCTTCCTTCCTCCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H2AB1_chrX_154879972_154890558	154884884	A A	ATGCGTGC others(13): Show ATGCGTGCCCGTCGCCGGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	318	0.0031	20	c.-16 others(29): Show c.-166_-165insTGCGTGCCCGTCGCCGGATG	H2AB1	ENSG00000274183.2	transcript	ENST00000620016.2	protein_coding		87		chrX	TogoVar

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