Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GDF15_chr19_18381158_18394176	18387813	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG02145.hp2 others(5): Show HG00099.hp1 HG00738.hp1 HG02145.hp2 HG03516.hp1 HG03654.hp1 HG04199.hp2 NA18963.hp2 NA19000.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0011 a0003c0003t0001g0011 a0002c0002t0001g0011 a0003c0003t0001g0011	8	424	0.0189	18	c.278 others(33): Show c.278-464_278-447dupTTTTTTTTTTTTTTTTTT		GDF15	ENSG00000130513.7	transcript	ENST00000252809.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr19	TogoVar
GDF5_chr20_35428347_35443228	35438824	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 NA18949.hp2 NA18984.hp2 others(1): Show HG00741.hp1 NA18949.hp2 NA18984.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	4	360	0.0111	18	c.-91 others(27): Show c.-914_-897dupACACACACACACACACAC		GDF5	ENSG00000125965.9	transcript	ENST00000374369.8	protein_coding					597		chr20	TogoVar
GDF6_chr8_96137333_96165806	96144244	T T	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01258.hp2 HG03927.hp2 NA19007.hp2 others(1): Show HG01258.hp2 HG03927.hp2 NA19007.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0096 a0001c0001t0036 a0001c0001t0096	a0001c0001t0036g0052 a0001c0001t0036g0101 a0001c0001t0036g0196 others(1): Show a0001c0001t0036g0052 a0001c0001t0036g0101 a0001c0001t0036g0196 a0001c0001t0096g0137	4	368	0.0109	18	c.30 others(27): Show c.301_*318dupCTCTCTCTCTCTCTCTCT		GDF6	ENSG00000156466.11	transcript	ENST00000287020.7	protein_coding	2/2				318		chr8	TogoVar
GDF6_chr8_96137333_96165806	96146707	C C	CACACAGA others(11): Show CACACAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03139.hp2 HG01070.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0016 a0001c0001t0007 a0001c0001t0016	a0001c0001t0007g0249 a0001c0001t0016g0248 a0001c0001t0007g0249 a0001c0001t0016g0248	2	368	0.0054	18	c.407 others(35): Show c.407-1184_407-1183insCTCTCTCTCTCTCTGTGT		GDF6	ENSG00000156466.11	transcript	ENST00000287020.7	protein_coding	1/1						chr8	TogoVar
GDF6_chr8_96137333_96165806	96146707	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02717.hp1 others(1): Show HG02109.hp2 HG02257.hp1 HG02717.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0024 a0001c0001t0019 a0001c0001t0024	a0001c0001t0019g0044 a0001c0001t0019g0123 a0001c0001t0024g0258 a0001c0001t0019g0044 a0001c0001t0019g0123 a0001c0001t0024g0258	4	368	0.0109	18	c.407 others(35): Show c.407-1201_407-1184dupCTCTCTCTCTCTCTCTCT		GDF6	ENSG00000156466.11	transcript	ENST00000287020.7	protein_coding	1/1						chr8	TogoVar
GDF6_chr8_96137333_96165806	96164182	C C	CTCTCTCT others(11): Show CTCTCTCTCTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG03491.hp2 HG03492.hp2 HG00639.hp1 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0084 a0001c0001t0049 a0001c0001t0084	a0001c0001t0049g0043 a0001c0001t0084g0251 a0001c0001t0049g0043 a0001c0001t0084g0251	3	368	0.0082	18	c.-34 others(29): Show c.-3491_-3490insCACACACACAGAGAGAGA		GDF6	ENSG00000156466.11	transcript	ENST00000287020.7	protein_coding					3377		chr8	TogoVar
GDF6_chr8_96137333_96165806	96164182	C C	CTCTCTGT others(11): Show CTCTCTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 NA19240.hp1 NA20300.hp1 others(1): Show HG02738.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0037 a0001c0001t0051 a0001c0001t0033 a0001c0001t0037 a0001c0001t0051	a0001c0001t0033g0107 a0001c0001t0037g0014 a0001c0001t0051g0232 a0001c0001t0033g0107 a0001c0001t0037g0014 a0001c0001t0051g0232	4	368	0.0109	18	c.-34 others(29): Show c.-3491_-3490insCACACACACACACAGAGA		GDF6	ENSG00000156466.11	transcript	ENST00000287020.7	protein_coding					3377		chr8	TogoVar
GDF6_chr8_96137333_96165806	96164182	C C	CTCTGTGT others(11): Show CTCTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG01168.hp1 others(3): Show HG00140.hp1 HG00738.hp1 HG01168.hp1 NA18943.hp2 NA18959.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0028 a0001c0001t0046	a0001c0001t0002g0008 a0001c0001t0003g0006 a0001c0001t0007g0025 others(3): Show a0001c0001t0002g0008 a0001c0001t0003g0006 a0001c0001t0007g0025 a0001c0001t0012g0090 a0001c0001t0028g0032 a0001c0001t0046g0031	6	368	0.0163	18	c.-34 others(29): Show c.-3491_-3490insCACACACACACACACAGA		GDF6	ENSG00000156466.11	transcript	ENST00000287020.7	protein_coding					3377		chr8	TogoVar
GDF7_chr2_20662144_20684243	20667362	G G	GGGCGGCG others(11): Show GGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00438.hp2 HG00621.hp2 HG00673.hp1 others(56): Show HG00438.hp2 HG00621.hp2 HG00673.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01358.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp2 HG02074.hp1 HG02145.hp1 HG02258.hp1 HG02300.hp1 HG02630.hp1 HG02647.hp2 HG02735.hp1 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03490.hp2 HG03492.hp1 HG03710.hp1 HG04184.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18972.hp1 NA18975.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA19004.hp1 NA19012.hp1 NA19030.hp1 NA19056.hp2 NA19068.hp2 NA19070.hp2 NA19081.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0014 a0002c0002 a0002c0014	a0002c0002t0004 a0002c0002t0014 a0002c0002t0018 others(38): Show a0002c0002t0004 a0002c0002t0014 a0002c0002t0018 a0002c0002t0019 a0002c0002t0030 a0002c0002t0031 a0002c0002t0032 a0002c0002t0033 a0002c0002t0034 a0002c0002t0035 a0002c0002t0036 a0002c0002t0037 a0002c0002t0069 a0002c0002t0071 a0002c0002t0073 a0002c0002t0074 a0002c0002t0075 a0002c0002t0076 a0002c0002t0077 a0002c0002t0078 a0002c0002t0079 a0002c0002t0081 a0002c0002t0082 a0002c0002t0087 a0002c0002t0088 a0002c0002t0089 a0002c0002t0090 a0002c0002t0091 a0002c0002t0092 a0002c0002t0093 a0002c0002t0094 a0002c0002t0095 a0002c0002t0096 a0002c0002t0097 a0002c0002t0098 a0002c0002t0100 a0002c0002t0101 a0002c0002t0102 a0002c0002t0103 a0002c0002t0242 a0002c0014t0057	a0002c0002t0004g0002 a0002c0002t0014g0002 a0002c0002t0018g0002 others(38): Show a0002c0002t0004g0002 a0002c0002t0014g0002 a0002c0002t0018g0002 a0002c0002t0019g0002 a0002c0002t0030g0002 a0002c0002t0031g0002 a0002c0002t0032g0002 a0002c0002t0033g0002 a0002c0002t0034g0002 a0002c0002t0035g0002 a0002c0002t0036g0002 a0002c0002t0037g0002 a0002c0002t0069g0002 a0002c0002t0071g0002 a0002c0002t0073g0002 a0002c0002t0074g0002 a0002c0002t0075g0002 a0002c0002t0076g0002 a0002c0002t0077g0002 a0002c0002t0078g0002 a0002c0002t0079g0002 a0002c0002t0081g0002 a0002c0002t0082g0002 a0002c0002t0087g0002 a0002c0002t0088g0002 a0002c0002t0089g0002 a0002c0002t0090g0002 a0002c0002t0091g0002 a0002c0002t0092g0002 a0002c0002t0093g0002 a0002c0002t0094g0002 a0002c0002t0095g0002 a0002c0002t0096g0002 a0002c0002t0097g0002 a0002c0002t0098g0019 a0002c0002t0100g0002 a0002c0002t0101g0002 a0002c0002t0102g0002 a0002c0002t0103g0002 a0002c0002t0242g0002 a0002c0014t0057g0001	59	442	0.1335	18	c.132 others(25): Show c.132_149dupCGGCGGCGGCGGCGGCGG	p.Gly others(11): Show p.Gly45_Gly50dup	GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding	1/2	246/9267	150/1353	50/450		INFO_REALIGN_3_PRIME	chr2	TogoVar
GDI1_chrX_154432154_154448467	154448072	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00735.hp1 HG01081.hp1 others(22): Show HG00438.hp1 HG00735.hp1 HG01081.hp1 HG01123.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01496.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02148.hp2 HG02273.hp2 HG02615.hp1 HG03704.hp1 HG03927.hp1 HG04184.hp1 HG06807.hp2 NA18940.hp1 NA18948.hp1 NA18951.hp2 NA18965.hp1 NA18992.hp1 NA19072.hp1 NA19240.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0005 a0005c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0006 a0003c0005t0007 a0005c0004t0001	a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0047 others(5): Show a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0003t0001g0002 a0001c0003t0006g0042 a0003c0005t0007g0044 a0005c0004t0001g0039	25	283	0.0883	18	c.54 others(29): Show c.5400_*5401insTTTTTTTTTTTTTTTTTT		GDI1	ENSG00000203879.12	transcript	ENST00000447750.7	protein_coding					4606		chrX	TogoVar
GDI2_chr10_5760223_5818434	5790416	G G	GGTGGATC others(11): Show GGTGGATCACCTGAAATCA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0141 a0001c0001t0004g0141	1	398	0.0025	18	c.389 others(35): Show c.389-4384_389-4367dupTGATTTCAGGTGATCCAC		GDI2	ENSG00000057608.17	transcript	ENST00000380191.9	protein_coding	4/10						chr10	TogoVar
GDNF_chr5_37807677_37845041	37815487	T T	TTCCTCCT others(11): Show TTCCTCCTCCTCCTCCTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp2 HG02109.hp1 HG02109.hp2 others(8): Show HG01346.hp2 HG02109.hp1 HG02109.hp2 HG02451.hp1 HG02647.hp1 HG02717.hp2 HG02922.hp1 HG02922.hp2 HG03453.hp2 HG03540.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0041 a0001c0001t0048 a0001c0002t0022 others(1): Show a0001c0001t0041 a0001c0001t0048 a0001c0002t0022 a0001c0002t0023	a0001c0001t0041g0052 a0001c0001t0048g0062 a0001c0002t0022g0031 others(2): Show a0001c0001t0041g0052 a0001c0001t0048g0062 a0001c0002t0022g0031 a0001c0002t0022g0032 a0001c0002t0023g0016	11	430	0.0256	18	c.14 others(27): Show c.146_*163dupGGAGGAGGAGGAGGAGGA		GDNF	ENSG00000168621.15	transcript	ENST00000326524.7	protein_coding	3/3				163		chr5	TogoVar
GDPD1_chr17_59215511_59280970	59222505	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01168.hp2 others(7): Show HG01081.hp1 HG01081.hp2 HG01168.hp2 HG02015.hp1 HG02965.hp1 HG04199.hp2 NA18947.hp2 NA18967.hp2 NA18977.hp1 NA18998.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0002c0004t0001	a0001c0001t0001g0062 a0001c0001t0001g0139 a0001c0001t0001g0140 others(7): Show a0001c0001t0001g0062 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0253 a0001c0001t0004g0064 a0001c0001t0004g0138 a0001c0001t0016g0028 a0002c0004t0001g0063	10	312	0.0321	18	c.142 others(35): Show c.142+1763_142+1780dupTTTTTTTTTTTTTTTTTT		GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
GDPD1_chr17_59215511_59280970	59255784	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0284 a0001c0001t0006g0284	1	312	0.0032	18	c.368 others(35): Show c.368-1337_368-1336insTATATATATATATATACA		GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
GDPD1_chr17_59215511_59280970	59255831	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02896.hp1 HG03130.hp2 HG02109.hp2 HG02896.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0019 a0001c0001t0008 a0001c0001t0019	a0001c0001t0008g0066 a0001c0001t0008g0074 a0001c0001t0019g0068 a0001c0001t0008g0066 a0001c0001t0008g0074 a0001c0001t0019g0068	3	312	0.0096	18	c.368 others(35): Show c.368-1288_368-1271dupTATATATATATATATATA		GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
GDPD1_chr17_59215511_59280970	59261913	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0028 a0001c0001t0016g0028	1	312	0.0032	18	c.576 others(35): Show c.576+4078_576+4095dupTTTTTTTTTTTTTTTTTT		GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
GDPD3_chr16_30099810_30118537	30110860	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp2 HG01258.hp1 others(10): Show HG01106.hp1 HG01123.hp2 HG01258.hp1 HG01361.hp1 HG01496.hp1 HG01884.hp2 HG02055.hp1 HG02647.hp1 HG02970.hp2 HG03130.hp1 HG03209.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0031 others(5): Show a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0172 a0001c0001t0001g0173	13	390	0.0333	18	c.707 others(33): Show c.707+527_707+528insTTTTTTTTTTTTTTTTTT		GDPD3	ENSG00000102886.15	transcript	ENST00000406256.8	protein_coding	7/9						chr16	TogoVar
GDPD5_chr11_75429640_75530941	75512281	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01169.hp1 others(22): Show HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01891.hp1 HG01943.hp1 HG01978.hp1 HG02004.hp2 HG02165.hp1 HG02451.hp2 HG02559.hp1 HG02717.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03540.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18951.hp2 NA18964.hp2 NA18979.hp2 NA19002.hp2 NA19084.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0002c0002t0001 a0002c0002t0003 a0002c0007t0003	a0001c0001t0001g0020 a0001c0001t0001g0052 a0001c0001t0001g0053 others(21): Show a0001c0001t0001g0020 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0106 a0001c0001t0002g0005 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0082 a0001c0001t0002g0090 a0001c0001t0003g0238 a0001c0003t0002g0203 a0002c0002t0001g0051 a0002c0002t0003g0265 a0002c0002t0003g0266 a0002c0002t0003g0267 a0002c0007t0003g0268	25	322	0.0776	18	c.-14 others(39): Show c.-145+12911_-145+12928dupGTGTGTGTGTGTGTGTGT		GDPD5	ENSG00000158555.15	transcript	ENST00000336898.8	protein_coding	1/16						chr11	TogoVar
GDPGP1_chr15_90229209_90250811	90246787	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0001 a0002c0002t0004g0001	1	438	0.0023	18	c.47 others(29): Show c.4721_*4722insAAAAAAAAAAAAAAAAAA		GDPGP1	ENSG00000183208.13	transcript	ENST00000329600.8	protein_coding					977		chr15	TogoVar
GEMIN2_chr14_39109323_39141973	39123686	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA19058.hp1 NA18974.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0335 a0001c0001t0001g0282 a0001c0001t0001g0335	2	424	0.0047	18	c.486 others(35): Show c.486+1149_486+1166dupATATATATATATATATAT		GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	424	0.0024	18	c.486 others(35): Show c.486+1166_486+1167insATATATATATATTTTTTT		GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN5_chr5_154882411_154943211	154884602	C C	CTATTTCT others(11): Show CTATTTCTGGAAGTTAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	338	0.0030	18	c.36 others(29): Show c.3607_*3608insCTTTAACTTCCAGAAATA		GEMIN5	ENSG00000082516.9	transcript	ENST00000285873.8	protein_coding					2808		chr5	TogoVar
GEMIN5_chr5_154882411_154943211	154930131	T T	TCTGCCAT others(11): Show TCTGCCATAACCATTTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0008 a0003c0015t0008	a0003c0015t0008g0289 a0003c0015t0008g0289	1	338	0.0030	18	c.781 others(35): Show c.781+1309_781+1326dupGAAAAATGGTTATGGCAG		GEMIN5	ENSG00000082516.9	transcript	ENST00000285873.8	protein_coding	5/27						chr5	TogoVar
GEMIN7_chr19_45074260_45096518	45075485	C C	CTCCTGTA others(11): Show CTCCTGTAGGCTGGCCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	420	0.0024	18	c.-40 others(29): Show c.-4024_-4023insTCCTGTAGGCTGGCCACA		GEMIN7	ENSG00000142252.11	transcript	ENST00000270257.9	protein_coding					3774		chr19	TogoVar
GEMIN8_chrX_14001726_14034892	14021814	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	273	0.0037	18	c.-33 others(33): Show c.-33-304_-33-303insTATATATATATATATACA		GEMIN8	ENSG00000046647.14	transcript	ENST00000680255.1	protein_coding	2/4						chrX	TogoVar
GEN1_chr2_17749138_17793946	17753324	T T	TGGGGACG others(11): Show TGGGGACGGCCGCCTGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG01109.hp2 others(23): Show HG00735.hp1 HG01109.hp1 HG01109.hp2 HG01516.hp1 HG01981.hp1 HG02004.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02723.hp2 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0007 a0009 a0012 a0015	a0001c0012 a0002c0002 a0003c0003 others(5): Show a0001c0012 a0002c0002 a0003c0003 a0006c0006 a0007c0007 a0009c0008 a0012c0021 a0015c0013	a0001c0012t0018 a0002c0002t0002 a0003c0003t0003 others(8): Show a0001c0012t0018 a0002c0002t0002 a0003c0003t0003 a0006c0006t0010 a0006c0006t0011 a0006c0006t0026 a0007c0007t0002 a0007c0007t0017 a0009c0008t0012 a0012c0021t0002 a0015c0013t0012	a0001c0012t0018g0019 a0002c0002t0002g0011 a0002c0002t0002g0030 others(16): Show a0001c0012t0018g0019 a0002c0002t0002g0011 a0002c0002t0002g0030 a0002c0002t0002g0097 a0003c0003t0003g0060 a0006c0006t0010g0018 a0006c0006t0010g0214 a0006c0006t0011g0044 a0006c0006t0011g0211 a0006c0006t0011g0213 a0006c0006t0026g0212 a0007c0007t0002g0025 a0007c0007t0017g0109 a0007c0007t0017g0110 a0009c0008t0012g0104 a0009c0008t0012g0105 a0009c0008t0012g0106 a0012c0021t0002g0081 a0015c0013t0012g0103	26	318	0.0818	18	c.-10 others(29): Show c.-1037_-1036insGGGGACGGCCGCCTGGGA		GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding					813		chr2	TogoVar
GEN1_chr2_17749138_17793946	17778450	G G	GTATATAC others(11): Show GTATATACACACATATGTA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	318	0.0031	18	c.126 others(35): Show c.1264+388_1264+389insATATACACACATATGTAT		GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
GET4_chr7_871554_901436	897150	T T	TGGACACG others(11): Show TGGACACGTGCACATTCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01099.hp1 HG03209.hp1 HG00639.hp2 HG01099.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0044 a0001c0001t0002g0022 a0001c0001t0002g0044	3	384	0.0078	18	c.17 others(29): Show c.1728_*1729insGGACACGTGCACATTCGG		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding					715		chr7	TogoVar
GET4_chr7_871554_901436	897684	A A	AGGGGGGC others(11): Show AGGGGGGCACCTGGGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	18	c.22 others(29): Show c.2262_*2263insGGGGGGCACCTGGGGAAG		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding					1249		chr7	TogoVar
GFI1_chr1_92468043_92491925	92478757	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0161 a0001c0003t0005g0161	1	342	0.0029	18	c.925 others(30): Show c.925-22_925-5dupCTCTCTCTCTCTCTCTCT		GFI1	ENSG00000162676.13	transcript	ENST00000294702.6	protein_coding	5/6						chr1	TogoVar
GFM2_chr5_74716206_74772117	74766633	T T	TCTTCTTC others(11): Show TCTTCTTCTTTTCTAACAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	372	0.0027	18	c.-25 others(33): Show c.-25+287_-25+304dupCTGTTAGAAAAGAAGAAG		GFM2	ENSG00000164347.18	transcript	ENST00000296805.8	protein_coding	1/20						chr5	TogoVar
GFOD1_chr6_13352830_13492600	13390780	A A	AGAAAGGA others(11): Show AGAAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01168.hp1 NA18942.hp1 NA19003.hp1 others(1): Show HG01168.hp1 NA18942.hp1 NA19003.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0133	a0001c0001t0001g0133 a0001c0001t0005g0137 a0001c0001t0009g0190 others(1): Show a0001c0001t0001g0133 a0001c0001t0005g0137 a0001c0001t0009g0190 a0001c0001t0133g0222	4	230	0.0174	18	c.254 others(37): Show c.254-25119_254-25118insCCTTCCTTCCTTCCTTTC		GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1						chr6	TogoVar
GFOD1_chr6_13352830_13492600	13409149	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA20752.hp1 NA20752.hp2 NA18948.hp1 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0027 a0001c0001t0093 a0001c0001t0007 a0001c0001t0027 a0001c0001t0093	a0001c0001t0007g0094 a0001c0001t0027g0185 a0001c0001t0093g0087 a0001c0001t0007g0094 a0001c0001t0027g0185 a0001c0001t0093g0087	3	230	0.0130	18	c.254 others(37): Show c.254-43488_254-43487insTTCTTTCTTTCTTTCTTT		GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1						chr6	TogoVar
GFOD1_chr6_13352830_13492600	13409153	G G	GAAAGGAA others(11): Show GAAAGGAAAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0224 a0001c0001t0003g0224	1	230	0.0044	18	c.254 others(37): Show c.254-43492_254-43491insTCTCTCTCTCTTTCCTTT		GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1						chr6	TogoVar
GFPT1_chr2_69314780_69392227	69352612	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0088 a0001c0001t0012g0088	1	366	0.0027	18	c.739 others(35): Show c.739+1629_739+1646dupTTTTTTTTTTTTTTTTTT		GFPT1	ENSG00000198380.13	transcript	ENST00000357308.9	protein_coding	9/19						chr2	TogoVar
GFPT1_chr2_69314780_69392227	69367344	T T	TTTGTTGT others(11): Show TTTGTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	366	0.0027	18	c.223 others(35): Show c.223+2639_223+2656dupCAACAACAACAACAACAA		GFPT1	ENSG00000198380.13	transcript	ENST00000357308.9	protein_coding	3/19						chr2	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0113 a0001c0005t0004g0113	1	412	0.0024	18	c.41 others(29): Show c.4105_*4106insATATATTTTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0247 a0002c0002t0008g0247	1	412	0.0024	18	c.41 others(29): Show c.4105_*4106insATATATATATTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0298 a0001c0005t0011g0298	1	412	0.0024	18	c.41 others(29): Show c.4105_*4106insATATATATATATTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar
GFRA1_chr10_116051925_116278206	116058041	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGACAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0088 a0002c0014t0088	a0002c0014t0088g0011 a0002c0014t0088g0011	1	214	0.0047	18	c.63 others(29): Show c.6356_*6357insTCTCTGTCACACACACAC		GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	11/11				6356		chr10	TogoVar
GFRA1_chr10_116051925_116278206	116145148	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0154 a0001c0001t0064g0154	1	214	0.0047	18	c.434 others(37): Show c.434-19609_434-19592dupTTTTTTTTTTTTTTTTTT		GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10						chr10	TogoVar
GFRA1_chr10_116051925_116278206	116165665	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp2 HG02886.hp2 others(8): Show HG02630.hp2 HG02647.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG03139.hp2 HG03195.hp2 HG03579.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004	a0001c0001t0003 a0001c0001t0011 a0001c0001t0035 others(8): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0035 a0001c0001t0038 a0001c0001t0043 a0001c0001t0051 a0001c0001t0074 a0001c0001t0105 a0001c0002t0129 a0001c0005t0046 a0002c0004t0031	a0001c0001t0003g0204 a0001c0001t0011g0152 a0001c0001t0035g0173 others(8): Show a0001c0001t0003g0204 a0001c0001t0011g0152 a0001c0001t0035g0173 a0001c0001t0038g0151 a0001c0001t0043g0206 a0001c0001t0051g0203 a0001c0001t0074g0161 a0001c0001t0105g0042 a0001c0002t0129g0051 a0001c0005t0046g0174 a0002c0004t0031g0087	11	214	0.0514	18	c.434 others(37): Show c.434-40126_434-40109dupTGTGTGTGTGTGTGTGTG		GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10						chr10	TogoVar
GFRA2_chr8_21685398_21793875	21694071	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02976.hp2 HG02486.hp2 HG02976.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0014 a0002c0002 a0005c0014	a0002c0002t0006 a0005c0014t0006 a0002c0002t0006 a0005c0014t0006	a0002c0002t0006g0065 a0005c0014t0006g0083 a0002c0002t0006g0065 a0005c0014t0006g0083	2	322	0.0062	18	c.127 others(35): Show c.1272+392_1272+393insTATATATATATATATATA		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8						chr8	TogoVar
GFRA2_chr8_21685398_21793875	21694075	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	322	0.0031	18	c.127 others(35): Show c.1272+388_1272+389insTATATATATATATATATA		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8						chr8	TogoVar
GFRA2_chr8_21685398_21793875	21744550	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02647.hp1 HG03139.hp1 others(5): Show HG02559.hp2 HG02647.hp1 HG03139.hp1 HG03209.hp2 HG06807.hp1 NA18522.hp1 NA19043.hp1 NA20129.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0009 others(1): Show a0001c0001 a0002c0002 a0004c0009 a0005c0013	a0001c0001t0005 a0001c0001t0013 a0001c0001t0020 others(5): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0020 a0002c0002t0010 a0002c0002t0015 a0004c0009t0005 a0004c0009t0013 a0005c0013t0010	a0001c0001t0005g0231 a0001c0001t0013g0240 a0001c0001t0020g0307 others(5): Show a0001c0001t0005g0231 a0001c0001t0013g0240 a0001c0001t0020g0307 a0002c0002t0010g0185 a0002c0002t0015g0029 a0004c0009t0005g0200 a0004c0009t0013g0190 a0005c0013t0010g0229	8	322	0.0248	18	c.794 others(35): Show c.794+6020_794+6037dupGTGTGTGTGTGTGTGTGT		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	4/8						chr8	TogoVar
GFRA2_chr8_21685398_21793875	21775989	C C	CTGTGTGT others(11): Show CTGTGTGTTTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0006 a0002c0002t0015g0006	1	322	0.0031	18	c.356 others(33): Show c.356-935_356-934insCACACACACAAACACACA		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	2/8						chr8	TogoVar
GFRA2_chr8_21685398_21793875	21776037	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	322	0.0031	18	c.356 others(33): Show c.356-983_356-982insTACACACACACACACACA		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	2/8						chr8	TogoVar
GFRA3_chr5_138247380_138279621	138271901	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0337 a0001c0001t0002g0337	1	376	0.0027	18	c.91+ others(33): Show c.91+2432_91+2433insCACACACACACACACACA		GFRA3	ENSG00000146013.11	transcript	ENST00000274721.8	protein_coding	1/7						chr5	TogoVar
GFRA3_chr5_138247380_138279621	138271907	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0334 a0001c0001t0002g0334	1	376	0.0027	18	c.91+ others(33): Show c.91+2426_91+2427insCACACACACACACACACA		GFRA3	ENSG00000146013.11	transcript	ENST00000274721.8	protein_coding	1/7						chr5	TogoVar
GFRAL_chr6_55322469_55407493	55395175	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0058 a0002c0002t0003g0058	1	386	0.0026	18	c.953 others(35): Show c.953-4003_953-3986dupTATATATATATATATATA		GFRAL	ENSG00000187871.2	transcript	ENST00000340465.2	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr6	TogoVar

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