Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
GET4_chr7_871554_901436	893603	C C	CGGTGGTG others(98): Show CGGTGGTGTGTGCAGGTGAGTGTTGGGTGCGGGCGTGGTGGTGGTTGCAG GTGAGTGTTGGGTGTAGGCGTGGTGGTTGCAGGTGAGTGTTGGGCAAGGG CGCGGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	21	0.0476	105	c.747 others(120): Show c.747-133_747-132insGTGTGTGCAGGTGAGTGTTGGGTGCGGGCG TGGTGGTGGTTGCAGGTGAGTGTTGGGTGTAGGCGTGGTGGTTGCAGGTG AGTGTTGGGCAAGGGCGCGGTGGTG		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
GINS1_chr20_25402673_25453563	25452530	A A	AGAGGGAG others(98): Show AGAGGGAGGAGGCTGAGAACAGAACAGGCTCCCGCCCTCCACAGTGCTGT GGCAGGATATTATTCTTACTAGACATGCCAGCTTTGGGATGGCGTCTGAC CCGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	358	0.0028	105	c.65 others(116): Show c.6539_*6540insGAGGGAGGAGGCTGAGAACAGAACAGGCTCCCGC CCTCCACAGTGCTGTGGCAGGATATTATTCTTACTAGACATGCCAGCTTT GGGATGGCGTCTGACCCGGAC		GINS1	ENSG00000101003.12	transcript	ENST00000262460.5	protein_coding					3968		chr20	TogoVar
GMEB2_chr20_63582605_63632101	63607914	A A	ACCCCACA others(98): Show ACCCCACATCCATTTCTAGAAACATGCCCCTCTGACCCCACATCCATTTC TAGAAACATGCCCCTCTGACCCCACACATCCATTTCTAGAAACATGCCCC TCTGAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0140 a0001c0003t0002g0140	1	325	0.0031	105	c.132 others(122): Show c.132-3075_132-3074insGTCAGAGGGGCATGTTTCTAGAAATGGA TGTGTGGGGTCAGAGGGGCATGTTTCTAGAAATGGATGTGGGGTCAGAGG GGCATGTTTCTAGAAATGGATGTGGGG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608967	A A	ACCCACAC others(98): Show ACCCACACATCCATTTCTAGAAACATGTCCCTCTGACCCCACCTCCATTT CCAGAAACATGCCCCTCTGACCCACACATCCATTTCTAGAAACATGTCCC TCTGAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02083.hp1 HG00099.hp2 HG02083.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0013 a0001c0003 a0002c0013	a0001c0003t0002 a0002c0013t0002 a0001c0003t0002 a0002c0013t0002	a0001c0003t0002g0149 a0002c0013t0002g0124 a0001c0003t0002g0149 a0002c0013t0002g0124	2	109	0.0183	105	c.132 others(122): Show c.132-4128_132-4127insGTCAGAGGGACATGTTTCTAGAAATGGA TGTGTGGGTCAGAGGGGCATGTTTCTGGAAATGGAGGTGGGGTCAGAGGG ACATGTTTCTAGAAATGGATGTGTGGG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GOLGA4_chr3_37238271_37371879	37258067	A A	ATGTATAT others(98): Show ATGTATATATACATACATATATATATGTATGTATATATGTATATATACAT ACATATATATATGTATGTATATATGTATATATATATGTGTGTATATATAT ATGCTC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0158 a0001c0010t0001g0158	1	270	0.0037	105	c.162 others(122): Show c.162+6593_162+6594insCATACATATATATATGTATGTATATATG TATATATACATACATATATATATGTATGTATATATGTATATATATATGTG TGTATATATATATGCTCTGTATATATA		GOLGA4	ENSG00000144674.19	transcript	ENST00000361924.7	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr3	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440178	C C	CCTCCTGC others(98): Show CCTCCTGCTCCCGCATCATCTCCTCCTCCTCCCGCATCTTCTTCTCCCGC TCCCGCATGCTCTCCTCCTCTCGCATCTTCTCCTGGTCCCATGTCTTCTT CTCCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(277): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0005 others(21): Show a0001 a0003 a0005 a0006 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0018 a0019 a0020 a0021 a0022 a0027 a0028 a0029 a0030 a0031 a0032 a0034 a0035	a0001c0001 a0001c0005 a0001c0010 others(46): Show a0001c0001 a0001c0005 a0001c0010 a0001c0013 a0001c0014 a0001c0017 a0001c0021 a0001c0023 a0001c0027 a0001c0037 a0001c0038 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0053 a0001c0055 a0003c0004 a0003c0012 a0003c0015 a0003c0051 a0003c0052 a0005c0008 a0006c0007 a0009c0018 a0009c0025 a0011c0022 a0012c0019 a0013c0020 a0014c0039 a0014c0042 a0015c0035 a0016c0043 a0018c0057 a0019c0041 a0020c0061 a0021c0036 a0022c0024 a0027c0029 a0028c0040 a0029c0034 a0030c0064 a0031c0062 a0032c0058 a0034c0032 a0035c0054	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(58): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0005t0001 a0001c0005t0004 a0001c0010t0001 a0001c0010t0003 a0001c0013t0001 a0001c0014t0001 a0001c0017t0001 a0001c0017t0003 a0001c0021t0001 a0001c0023t0001 a0001c0027t0001 a0001c0037t0001 a0001c0038t0025 a0001c0044t0001 a0001c0045t0001 a0001c0046t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0001 a0001c0053t0009 a0001c0055t0001 a0003c0004t0001 a0003c0012t0001 a0003c0015t0001 a0003c0051t0001 a0003c0052t0001 a0005c0008t0007 a0005c0008t0022 a0006c0007t0001 a0009c0018t0010 a0009c0025t0010 a0011c0022t0015 a0011c0022t0016 a0012c0019t0014 a0013c0020t0005 a0014c0039t0001 a0014c0042t0001 a0015c0035t0001 a0016c0043t0001 a0018c0057t0001 a0019c0041t0001 a0020c0061t0001 a0021c0036t0004 a0022c0024t0019 a0027c0029t0004 a0028c0040t0001 a0029c0034t0004 a0030c0064t0001 a0031c0062t0001 a0032c0058t0001 a0034c0032t0009 a0035c0054t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(86): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0003g0004 a0001c0001t0003g0027 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0046 a0001c0001t0004g0060 a0001c0001t0004g0097 a0001c0001t0009g0032 a0001c0001t0012g0035 a0001c0001t0018g0069 a0001c0001t0020g0091 a0001c0001t0023g0098 a0001c0005t0001g0007 a0001c0005t0001g0080 a0001c0005t0001g0084 a0001c0005t0001g0103 a0001c0005t0004g0085 a0001c0010t0001g0011 a0001c0010t0003g0087 a0001c0013t0001g0014 a0001c0014t0001g0012 a0001c0017t0001g0051 a0001c0017t0003g0033 a0001c0021t0001g0031 a0001c0023t0001g0044 a0001c0027t0001g0057 a0001c0037t0001g0061 a0001c0038t0025g0062 a0001c0044t0001g0089 a0001c0045t0001g0090 a0001c0046t0001g0067 a0001c0047t0001g0068 a0001c0048t0001g0070 a0001c0049t0001g0071 a0001c0050t0001g0072 a0001c0053t0009g0074 a0001c0055t0001g0094 a0003c0004t0001g0006 a0003c0004t0001g0018 a0003c0004t0001g0121 a0003c0012t0001g0021 a0003c0012t0001g0088 a0003c0015t0001g0013 a0003c0051t0001g0092 a0003c0052t0001g0073 a0005c0008t0007g0114 a0005c0008t0022g0115 a0006c0007t0001g0009 a0006c0007t0001g0034 a0006c0007t0001g0050 a0009c0018t0010g0041 a0009c0025t0010g0119 a0011c0022t0015g0042 a0011c0022t0016g0043 a0012c0019t0014g0052 a0012c0019t0014g0053 a0013c0020t0005g0040 a0014c0039t0001g0063 a0014c0042t0001g0066 a0015c0035t0001g0086 a0016c0043t0001g0083 a0018c0057t0001g0095 a0019c0041t0001g0065 a0020c0061t0001g0101 a0021c0036t0004g0045 a0022c0024t0019g0056 a0027c0029t0004g0106 a0028c0040t0001g0064 a0029c0034t0004g0058 a0030c0064t0001g0125 a0031c0062t0001g0102 a0032c0058t0001g0078 a0034c0032t0009g0079 a0035c0054t0001g0093	280	369	0.7588	105	c.229 others(114): Show c.2296_2297insCAGGAGAAGAAGACATGGGACCAGGAGAAGATGCGA GAGGAGGAGAGCATGCGGGAGCGGGAGAAGAAGATGCGGGAGGAGGAGGA GATGATGCGGGAGCAGGAG	p.Gly others(118): Show p.Gly765_Gly766insAlaGlyGluGluAspMetGlyProGlyGluAs pAlaArgGlyGlyGluHisAlaGlyAlaGlyGluGluAspAlaGlyGlyG lyGlyAspAspAlaGlyAlaGly	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2358/3499	2296/2730	766/909			chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440178	C C	CCTCCTGC others(98): Show CCTCCTGCTCCCGCATCATCTCCTCCTCCTCCTGCATCTTCTTCTCCCGC TCCCGCATGCTCTCCTCCTCTCGCATCTTCTCCTGGTCCCATGTCTTCTT CTCCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG01361.hp1 HG01928.hp1 others(6): Show HG00099.hp1 HG01361.hp1 HG01928.hp1 HG02109.hp1 HG02602.hp1 HG03491.hp2 HG03710.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0003g0004 a0001c0001t0004g0022 a0001c0001t0001g0001 a0001c0001t0003g0004 a0001c0001t0004g0022	9	98	0.0918	105	c.229 others(114): Show c.2296_2297insCAGGAGAAGAAGACATGGGACCAGGAGAAGATGCGA GAGGAGGAGAGCATGCGGGAGCGGGAGAAGAAGATGCAGGAGGAGGAGGA GATGATGCGGGAGCAGGAG	p.Gly others(118): Show p.Gly765_Gly766insAlaGlyGluGluAspMetGlyProGlyGluAs pAlaArgGlyGlyGluHisAlaGlyAlaGlyGluGluAspAlaGlyGlyG lyGlyAspAspAlaGlyAlaGly	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2358/3499	2296/2730	766/909			chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440178	C C	CCTCCTGC others(98): Show CCTCCTGCTCCCGTATCATCTCCTCCTCCTCCCGCATCTTCTTCTCCCGC TCCCGCATGCTCTCCTCCTCTCGCATCTTCTCCTGGTCCCATGTCTTCTT CTCCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02258.hp2 HG02615.hp1 HG02717.hp2 others(11): Show HG02258.hp2 HG02615.hp1 HG02717.hp2 HG02809.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp1 HG06807.hp2 NA19240.hp1	a0005 a0005	a0005c0006 a0005c0008 a0005c0031 a0005c0006 a0005c0008 a0005c0031	a0005c0006t0007 a0005c0006t0013 a0005c0006t0021 others(3): Show a0005c0006t0007 a0005c0006t0013 a0005c0006t0021 a0005c0006t0024 a0005c0008t0008 a0005c0031t0007	a0005c0006t0007g0017 a0005c0006t0013g0039 a0005c0006t0021g0116 others(4): Show a0005c0006t0007g0017 a0005c0006t0013g0039 a0005c0006t0021g0116 a0005c0006t0024g0117 a0005c0008t0008g0019 a0005c0008t0008g0126 a0005c0031t0007g0113	14	103	0.1359	105	c.229 others(114): Show c.2296_2297insCAGGAGAAGAAGACATGGGACCAGGAGAAGATGCGA GAGGAGGAGAGCATGCGGGAGCGGGAGAAGAAGATGCGGGAGGAGGAGGA GATGATACGGGAGCAGGAG	p.Gly others(118): Show p.Gly765_Gly766insAlaGlyGluGluAspMetGlyProGlyGluAs pAlaArgGlyGlyGluHisAlaGlyAlaGlyGluGluAspAlaGlyGlyG lyGlyAspAspThrGlyAlaGly	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2358/3499	2296/2730	766/909			chr15	TogoVar
GOLGA6L4_chr15_84230773_84250358	84240063	T T	TGTGAACA others(98): Show TGTGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTACGTGAACA TGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTATGTGAACAGGAGGAGA GGCTAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03225.hp2 HG03225.hp2	a0030 a0030	a0030c0048 a0030c0048	a0030c0048t0011 a0030c0048t0011	a0030c0048t0011g0013 a0030c0048t0011g0013	1	246	0.0041	105	c.728 others(112): Show c.728_729insGTGTGAACAGGAGGAGAGGCTACGTGAACATGAGGAGA GGCTGTGTGAACAGGAGGAGAGGCTATGTGAACAGGAGGAGAGGCTACGT GAACAGGAGGAGAGGCT	p.Leu others(118): Show p.Leu243_Arg244insCysGluGlnGluGluArgLeuArgGluHisGl uGluArgLeuCysGluGlnGluGluArgLeuCysGluGlnGluGluArgL euArgGluGlnGluGluArgLeu	GOLGA6L4	ENSG00000184206.13	transcript	ENST00000510439.7	protein_coding	6/9	791/4553	729/1725	243/574		INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L4_chr15_84230773_84250358	84240169	A A	ATGAACAG others(98): Show ATGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTACGTGAACAG GAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTACGTGAACATGAGGAGAG GCTGTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19068.hp1 NA19068.hp1	a0041 a0041	a0041c0036 a0041c0036	a0041c0036t0012 a0041c0036t0012	a0041c0036t0012g0002 a0041c0036t0012g0002	1	172	0.0058	105	c.854 others(112): Show c.854_855insACGTGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGA GGCTACGTGAACATGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTACGT GAACAGGAGGAGAGGCT	p.Leu others(118): Show p.Leu285_Cys286insArgGluGlnGluGluArgLeuCysGluGlnGl uGluArgLeuArgGluHisGluGluArgLeuCysGluGlnGluGluArgL euArgGluGlnGluGluArgLeu	GOLGA6L4	ENSG00000184206.13	transcript	ENST00000510439.7	protein_coding	6/9	917/4553	855/1725	285/574		INFO_REALIGN_3_PRIME	chr15	TogoVar
GPATCH2_chr1_217421992_217636090	217524847	C C	CGTGGAAA others(98): Show CGTGGAAAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGA GGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAG GGGAGA	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA19009.hp2 HG03654.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0052 a0001c0001t0005g0095 a0001c0001t0003g0052 a0001c0001t0005g0095	2	163	0.0123	105	c.109 others(124): Show c.1099-9959_1099-9958insTCTCCCCTCTCCCCTCTCCCCTCTCC CCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCC CTCTCCCCTCTCCCCTCTCCCCTTTCCAC		GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9						chr1	TogoVar
GPR139_chr16_20023239_20078890	20041128	A A	AAGGAAAG others(98): Show AAGGAAAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	85	0.0118	105	c.128 others(122): Show c.128-8460_128-8459insCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTTTCCT		GPR139	ENSG00000180269.8	transcript	ENST00000570682.2	protein_coding	1/1						chr16	TogoVar
GRAMD1B_chr11_123425269_123632767	123457117	A A	AGAAAGAA others(98): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0127 a0001c0001t0004g0127	1	119	0.0084	105	c.375 others(124): Show c.375-23699_375-23698insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAG		GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19						chr11	TogoVar
GRP_chr18_59215158_59235771	59234548	C C	CATACCAT others(98): Show CATACCATGGTATATATATAATATAACATATTATACATACCATGGTATAT ATATAATATAACATATTATACATACCATGGTATATATATAATATAACATA TTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	10	0.1000	105	c.40 others(116): Show c.4080_*4081insATACCATGGTATATATATAATATAACATATTATA CATACCATGGTATATATATAATATAACATATTATACATACCATGGTATAT ATATAATATAACATATTATAT		GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding					3778		chr18	TogoVar
GRP_chr18_59215158_59235771	59234548	C C	CATACCAT others(98): Show CATACCATGGTATATATATAATATAACATATTATATATACCATGGTATAT ATATAATATAACATATTATATATACCATGGTATATATATTATATAACATA TTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	10	0.1000	105	c.40 others(116): Show c.4080_*4081insATACCATGGTATATATATAATATAACATATTATA TATACCATGGTATATATATAATATAACATATTATATATACCATGGTATAT ATATTATATAACATATTATAT		GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding					3778		chr18	TogoVar
GRSF1_chr4_70810783_70844890	70840012	C C	CTTGGGCG others(98): Show CTTGGGCGGGGCTGCCCATGGTTTGGGCGGGGCTGCCCATGGTTTGGGCG GGGCTGCCCATGGTTTGGGCGGGGCTGCCCATGGTTTGGGCGGGGCTGCC CATGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01943.hp1 HG01952.hp1 others(10): Show HG01106.hp1 HG01943.hp1 HG01952.hp1 HG02109.hp1 HG02630.hp2 HG02738.hp2 HG02965.hp2 HG03130.hp1 HG03453.hp2 HG03471.hp1 HG06807.hp1 NA19007.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0023 a0001c0001t0029 a0001c0001t0039 a0001c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0032 a0001c0001t0001g0035 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0137 a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0004g0051 a0001c0001t0008g0161 a0001c0001t0023g0096 a0001c0001t0029g0153 a0001c0001t0039g0064 a0001c0003t0001g0037	13	79	0.1646	105	c.-18 others(114): Show c.-186_-185insACCATGGGCAGCCCCGCCCAAACCATGGGCAGCCCC GCCCAAACCATGGGCAGCCCCGCCCAAACCATGGGCAGCCCCGCCCAAAC CATGGGCAGCCCCGCCCAA		GRSF1	ENSG00000132463.15	transcript	ENST00000254799.11	protein_coding					123		chr4	TogoVar
GSDMD_chr8_143553346_143568062	143557312	A A	ATGACGAA others(98): Show ATGACGAAGGATGCTGCCGCTTTGGCGAAGGATGCTGCCGCTATGGCGAA GGATGATGCCGCTGTGACGACAGATGCTGCCGCTGTGACGACAGATGCTG CCGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00558.hp2 others(88): Show HG00099.hp2 HG00408.hp1 HG00558.hp2 HG00597.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02055.hp2 HG02132.hp1 HG02280.hp1 HG02486.hp1 HG02602.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18940.hp1 NA18943.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18966.hp2 NA18974.hp1 NA18974.hp2 NA18987.hp1 NA18997.hp2 NA18998.hp1 NA19004.hp1 NA19007.hp2 NA19043.hp1 NA19054.hp1 NA19058.hp1 NA19065.hp2 NA19080.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0008 a0012 others(1): Show a0001 a0008 a0012 a0016	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0018 a0001c0025 a0008c0022 a0012c0019 a0016c0024	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0002 a0001c0018t0001 a0001c0025t0001 a0008c0022t0001 a0012c0019t0001 a0016c0024t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0042 a0001c0002t0001g0003 a0001c0002t0001g0008 a0001c0003t0001g0022 a0001c0004t0002g0007 a0001c0018t0001g0005 a0001c0025t0001g0002 a0008c0022t0001g0002 a0012c0019t0001g0002 a0016c0024t0001g0045	91	268	0.3396	105	c.-11 others(116): Show c.-1144_-1143insTGACGAAGGATGCTGCCGCTTTGGCGAAGGATGC TGCCGCTATGGCGAAGGATGATGCCGCTGTGACGACAGATGCTGCCGCTG TGACGACAGATGCTGCCGCTG		GSDMD	ENSG00000104518.11	transcript	ENST00000262580.9	protein_coding					1033		chr8	TogoVar
GSDMD_chr8_143553346_143568062	143557379	C C	CGAAGGAT others(98): Show CGAAGGATGCTGCCGCTATGATGAAGGATGATGCCGCTGTGACGACGGAT GCTGCCGCTGTGGCGAAGGATGCTGCCGCTGTGACGACGGATGCTGCCGC TATGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	373	0.0027	105	c.-10 others(116): Show c.-1077_-1076insGAAGGATGCTGCCGCTATGATGAAGGATGATGCC GCTGTGACGACGGATGCTGCCGCTGTGGCGAAGGATGCTGCCGCTGTGAC GACGGATGCTGCCGCTATGAT		GSDMD	ENSG00000104518.11	transcript	ENST00000262580.9	protein_coding					966		chr8	TogoVar
GTPBP6_chrX_299759_323796	323565	T T	TGTGTGTG others(98): Show TGTGTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCG TCTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTC AGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA19085.hp2 NA18941.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0032 a0001c0001t0002g0034 a0001c0001t0001g0032 a0001c0001t0002g0034	2	146	0.0137	105	c.-47 others(116): Show c.-4779_-4778insGTCCCTGAGCTCACCACCTGGGGACGCCCTCATT CCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTGACG GCTACACACACACACACACAC		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding					4770		chrX	TogoVar
GTPBP6_chrX_299759_323796	323567	T T	TGTGTGTG others(98): Show TGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCG TCTGCCCTGTTCATAGAGACAGAATGAGGGCGTCCCCAGGTGGTGAGCTC AGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0019 a0004c0006t0001g0019	1	152	0.0066	105	c.-47 others(116): Show c.-4781_-4780insGTCCCTGAGCTCACCACCTGGGGACGCCCTCATT CTGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACG GCTACACACACACACACACAC		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding					4772		chrX	TogoVar
GUCY1A2_chr11_106669019_107023476	106710185	A A	ATAATAGT others(98): Show ATAATAGTTATATATATTATATACATGTATAAAGTATAGTTATATATAAT ATATACATGTATATAATATATAGTTATATATAATAGTTATATATATTATA TACATG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	248	0.0040	105	c.183 others(124): Show c.1837-1520_1837-1519insCATGTATATAATATATATAACTATTA TATATAACTATATATTATATACATGTATATATTATATATAACTATACTTT ATACATGTATATAATATATATAACTATTA		GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7						chr11	TogoVar
GYPE_chr4_143865864_143910559	143883550	T T	TTATAATT others(98): Show TTATAATTAATAATAACATGTAATTAATTATAAATTAATTTATAATTAAT AATAACATGTAATTAATTATAAATTAATAATTAATAATAACATGTAATTA ATTATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02723.hp1 HG02976.hp1 others(2): Show HG02055.hp1 HG02723.hp1 HG02976.hp1 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0015 a0001c0001t0004g0114 a0001c0001t0013g0099 a0001c0001t0004g0015 a0001c0001t0004g0114 a0001c0001t0013g0099	5	156	0.0321	105	c.38- others(120): Show c.38-3042_38-3041insTATAATTAATTACATGTTATTATTAATTAT TAATTTATAATTAATTACATGTTATTATTAATTATAAATTAATTTATAAT TAATTACATGTTATTATTAATTATA		GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding	1/3						chr4	TogoVar
GZMM_chr19_539053_554922	550576	C C	CCCGAAAA others(98): Show CCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCGAAAACAGGCCC GTCCCCAGTCACCCCAGCACCCCGAAAACAGGCCCGTCCCCAGTCACCCC AGCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(226): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0008 a0009 a0010 a0011	a0001c0001 a0001c0003 a0001c0009 others(9): Show a0001c0001 a0001c0003 a0001c0009 a0001c0011 a0001c0019 a0002c0002 a0004c0006 a0006c0007 a0008c0014 a0009c0013 a0010c0015 a0011c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0009t0001 a0001c0011t0001 a0001c0019t0001 a0002c0002t0001 a0004c0006t0001 a0006c0007t0001 a0008c0014t0001 a0009c0013t0001 a0010c0015t0001 a0011c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(128): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0002g0046 a0001c0001t0003g0003 a0001c0001t0003g0193 a0001c0003t0001g0187 a0001c0009t0001g0084 a0001c0009t0001g0085 a0001c0011t0001g0073 a0001c0019t0001g0127 a0002c0002t0001g0003 a0002c0002t0001g0170 a0004c0006t0001g0001 a0004c0006t0001g0027 a0004c0006t0001g0204 a0006c0007t0001g0001 a0006c0007t0001g0213 a0008c0014t0001g0008 a0009c0013t0001g0003 a0010c0015t0001g0001 a0011c0016t0001g0010	229	327	0.7003	105	c.78 others(114): Show c.785_*786insCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCC CGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCGAAAACAGGCCCGT CCCCAGTCACCCCAGCACT		GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding					655		chr19	TogoVar
HAP1_chr17_41717640_41739643	41730109	A A	AAAGAAAA others(98): Show AAAGAAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	180	0.0056	105	c.106 others(124): Show c.1069+1383_1069+1384insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTTCTTTCTTTTCTT		HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	6/10						chr17	TogoVar
HBM_chr16_160978_171764	164718	C C	CGCGGTGC others(98): Show CGCGGTGCGGGCGGGGCGGGGCGGGGCCGCGGTGCGGGGCGGGGTCGCGG GGCGGGGTCGCGGGGCGGGGTCGCGGGGCGGGGTCGCGGGGCGGGGTCGC GGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	360	0.0028	105	c.-12 others(116): Show c.-1280_-1279insGCGGTGCGGGCGGGGCGGGGCGGGGCCGCGGTGC GGGGCGGGGTCGCGGGGCGGGGTCGCGGGGCGGGGTCGCGGGGCGGGGTC GCGGGGCGGGGTCGCGGGGCG		HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding					1259		chr16	TogoVar
HCN2_chr19_584881_622159	605759	G G	GCGCCCCC others(98): Show GCGCCCCCTTATGGAGGGGAGGACTCGGGCCCTTACAGAGGCGGGGACCC AGGCGCCCCCTTATGGAGGGGAGGACACGGGCCCTTACAGAGGCGGGGAC CCAGGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02257.hp2 HG02976.hp1 others(1): Show HG00621.hp2 HG02257.hp2 HG02976.hp1 HG03239.hp1	a0001 a0001	a0001c0006 a0001c0014 a0001c0101 a0001c0006 a0001c0014 a0001c0101	a0001c0006t0002 a0001c0014t0003 a0001c0101t0008 a0001c0006t0002 a0001c0014t0003 a0001c0101t0008	a0001c0006t0002g0027 a0001c0006t0002g0244 a0001c0014t0003g0096 others(1): Show a0001c0006t0002g0027 a0001c0006t0002g0244 a0001c0014t0003g0096 a0001c0101t0008g0024	4	406	0.0099	105	c.121 others(122): Show c.1218+554_1218+555insGAGGACTCGGGCCCTTACAGAGGCGGGG ACCCAGGCGCCCCCTTATGGAGGGGAGGACACGGGCCCTTACAGAGGCGG GGACCCAGGCCGCCCCCTTATGGAGGG		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HIGD1C_chr12_50947544_50975607	50948889	G G	GGGGAGGG others(98): Show GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0027	1	296	0.0034	105	c.-38 others(116): Show c.-3890_-3889insGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGA		HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding					3654		chr12	TogoVar
HIPK4_chr19_40374271_40395181	40377360	T T	TGGGGGGG others(98): Show TGGGGGGGCACAGGCAGAGGGGTCAGGGCTGGGATGGAGGAGGTACAGGC AGAGGGGTCAGGGCTGGGATGGAGGAGGTACAGGCAGAGGGGTCAGGGCT GGGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	378	0.0026	105	c.22 others(116): Show c.2226_*2227insCATCCCAGCCCTGACCCCTCTGCCTGTACCTCCT CCATCCCAGCCCTGACCCCTCTGCCTGTACCTCCTCCATCCCAGCCCTGA CCCCTCTGCCTGTGCCCCCCC		HIPK4	ENSG00000160396.9	transcript	ENST00000291823.3	protein_coding					1910		chr19	TogoVar
HNRNPA3_chr2_177207794_177228959	177216348	G G	GAAATAAA others(98): Show GAAATAAACATACGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAT AAAATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0059	1	332	0.0030	105	c.554 others(120): Show c.554-144_554-143insCGGAGCTTGCAGTGAGCCGAGATTGCGCCA CTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAATAAAATAAAATAAACATA		HNRNPA3	ENSG00000170144.22	transcript	ENST00000392524.7	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
HOPX_chr4_56642998_56686296	56685935	A A	ATATTGTA others(98): Show ATATTGTATTATATATAATGTATTATAATGTATTATATATAATGTATTAT ATATTATATAATGTATTATATATAATGTATTATATATTATATAATGTATT ATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	272	0.0037	105	c.-47 others(116): Show c.-4765_-4764insATATATAATACATTATATAATATATAATACATTA TATATAATACATTATATAATATATAATACATTATATATAATACATTATAA TACATTATATATAATACAATA		HOPX	ENSG00000171476.23	transcript	ENST00000420433.6	protein_coding					4640		chr4	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(98): Show TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	146	0.0068	105	c.26 others(116): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTCTCT CTCTCTCTCTCTCTCTCTCTC		HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding					1232		chr12	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCACCAC others(98): Show TCCACCACCACCACCACCACCACCACCACCCCCGCCACACCCCTCACCAC CTCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCA CCTCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03710.hp1 HG03710.hp1	a0041 a0041	a0041c0058 a0041c0058	a0041c0058t0001 a0041c0058t0001	a0041c0058t0001g0000 a0041c0058t0001g0000	1	310	0.0032	105	c.316 others(112): Show c.316_317insACCACCACCACCCCCGCCACACCCCTCACCACCTCCAC CACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCA CCACCACCACCACCACC	p.His others(118): Show p.His105_Pro106insHisHisHisHisProArgHisThrProHisHi sLeuHisHisHisHisHisProHisHisHisProHisHisThrProHisH isLeuHisHisHisHisHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115		INFO_REALIGN_3_PRIME	chr9	TogoVar
IFNAR1_chr21_33319970_33364864	33322587	A A	ATGGTATA others(98): Show ATGGTATATATATATGGAATATATATATATGGTATATATATATGGAATAT ATATATATGGAATACAAATATACGGAATATATATATGGAATACATATATA CGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0221 a0002c0004t0002g0221	1	256	0.0039	105	c.-24 others(116): Show c.-2469_-2468insTGGTATATATATATGGAATATATATATATGGTAT ATATATATGGAATATATATATATGGAATACAAATATACGGAATATATATA TGGAATACATATATACGGAAT		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2382		chr21	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATA others(98): Show AATATATAATAAATTATATATTATATATAATATATAATATATTATATATT ATATATAATATATAATTTATAATATATTATATATAATATATAATATATTA TATATT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	8	0.1250	105	c.862 others(120): Show c.862-890_862-889insAATATATAATATATTATATATTATATATAA TATATTATAAATTATATATTATATATAATATATAATATATTATATATTAT ATATAATATATAATTTATTATATAT		IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6						chr6	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATA others(98): Show AATATATAATATATTATAAATTATATATTATATATAATATATTATATATT ATATATAATATATAATTTATAATATATTATATATAATATATAATTTATAA TATATT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02572.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0004 a0002c0006t0002 a0002c0006t0004	a0002c0006t0002g0033 a0002c0006t0002g0082 a0002c0006t0004g0083 a0002c0006t0002g0033 a0002c0006t0002g0082 a0002c0006t0004g0083	4	11	0.3636	105	c.862 others(120): Show c.862-890_862-889insAATATATTATAAATTATATATTATATATAA TATATTATAAATTATATATTATATATAATATATAATATATTATATATAAT ATATAATTTATAATATATTATATAT		IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6						chr6	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATA others(98): Show AATATATAATATATTATATATAATATATAATATATAATATATTATATATT ATATATAATATATAATTTATAATATATTATATATAATATATAATATATTA TATATT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0184 a0001c0009t0001g0184	1	8	0.1250	105	c.862 others(120): Show c.862-890_862-889insAATATATAATATATTATATATTATATATAA TATATTATAAATTATATATTATATATAATATATAATATATTATATATTAT ATATTATATATAATATATTATATAT		IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6						chr6	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATA others(98): Show AATATATAATATATTATATATTATATATAATATATAATATATAATATATT ATATATAATATATAATTTATAATATATTATATATAATATATAATATATTA TATATT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	8	0.1250	105	c.862 others(120): Show c.862-890_862-889insAATATATAATATATTATATATTATATATAA TATATTATAAATTATATATTATATATAATATATTATATATTATATATTAT ATATAATATATAATATATTATATAT		IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6						chr6	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATA others(98): Show AATATATAATATATTATATATTATATATAATATATAATATATTATATATA ATATATAATATATAATTTATAATATATTATATATAATATATAATTTATAA TATATT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03225.hp1 HG02809.hp2 HG03225.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0034 a0004c0008t0001g0034	2	9	0.2222	105	c.862 others(120): Show c.862-890_862-889insAATATATTATAAATTATATATTATATATAA TATATTATAAATTATATATTATATATTATATATAATATATTATATATTAT ATATAATATATAATATATTATATAT		IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6						chr6	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATA others(98): Show AATATATAATATATTATATATTATATATAATATATAATATATTATATATT ATATATAATATATAATTTATAATATATTATATATAATATATAATATATTA TATATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG00738.hp2 others(42): Show HG00099.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01243.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02735.hp1 HG02818.hp1 HG03017.hp1 HG03130.hp2 HG03209.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03927.hp2 NA18947.hp1 NA18981.hp2 NA18987.hp2 NA19004.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19076.hp1 NA19082.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0014 a0001c0001 a0001c0009 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0001c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0002g0060 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0009t0001g0169 a0001c0014t0001g0170	45	52	0.8654	105	c.862 others(120): Show c.862-890_862-889insAATATATAATATATTATATATTATATATAA TATATTATAAATTATATATTATATATAATATATAATATATTATATATTAT ATATAATATATAATATATTATATAT		IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6						chr6	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATA others(98): Show AATATATAATATATTATATATTATATATAATATATAATTTATAATATATT ATATATAATATATAATATATTATATATTATATATAATATATAATATATTA TATATT	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18612.hp2 HG03579.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0055 a0001c0001t0001g0003 a0001c0001t0002g0055	2	9	0.2222	105	c.862 others(120): Show c.862-890_862-889insAATATATAATATATTATATATTATATATAA TATATAATATATTATATATTATATATAATATATTATAAATTATATATTAT ATATAATATATAATATATTATATAT		IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6						chr6	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATA others(98): Show AATATATAATATATTATATATTATATATAATATATAATTTATTATATATT ATATATAATATATAATTTATTATATATTATATATAATATATAATTTATTA TATATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG01884.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0098 a0001c0001t0002g0100	2	9	0.2222	105	c.862 others(120): Show c.862-890_862-889insAATATATAATAAATTATATATTATATATAA TATATAATAAATTATATATTATATATAATATATAATAAATTATATATTAT ATATAATATATAATATATTATATAT		IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6						chr6	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATT others(98): Show AATATATTATATATTATATATTATATATAATATATAATATATTATATATT ATATATAATATATAATTTATAATATATTATATATAATATATAATATATTA TATATT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01175.hp2 HG00140.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	9	0.2222	105	c.862 others(120): Show c.862-890_862-889insAATATATAATATATTATATATTATATATAA TATATTATAAATTATATATTATATATAATATATAATATATTATATATTAT ATATAATATATAATATATAATATAT		IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6						chr6	TogoVar
IGSF21_chr1_18102798_18383483	18254357	A A	AAACCCTA others(98): Show AAACCCTAACCCTAACCCTAACCCTAACCCTAACCTTATCTAGCTCCATC CACACATTCACTGGATCTAGACCTCTATCTGAATACAGCGAATGGCTCAA AACCCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG01243.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0127 a0001c0001t0011g0208 a0001c0001t0001g0127 a0001c0001t0011g0208	2	80	0.0250	105	c.183 others(124): Show c.183+26416_183+26417insACCTCTATCTGAATACAGCGAATGGC TCAAAACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCTTATCT AGCTCCATCCACACATTCACTGGATCTAG		IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
IL19_chr1_206765773_206847981	206781970	T T	TAGTTATA others(98): Show TAGTTATATATACATATATATGTATATAGTTATATATACATATATATGTA TATAGTTATATATACATATATATGTATATAGTTATATATACATATATATG TATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00738.hp1 others(22): Show HG00280.hp1 HG00323.hp1 HG00738.hp1 HG01069.hp1 HG01081.hp1 HG01106.hp2 HG01192.hp1 HG01358.hp1 HG01952.hp2 HG02004.hp2 HG02027.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02602.hp2 HG02717.hp1 HG02809.hp1 HG02965.hp1 HG03209.hp1 HG03239.hp2 HG03491.hp2 HG03669.hp2 HG04228.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0002c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0032 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0137 a0001c0001t0003g0238 a0001c0001t0003g0247 a0001c0001t0003g0314 a0001c0001t0003g0336 a0001c0001t0003g0341 a0001c0001t0006g0055 a0001c0001t0006g0060 a0001c0001t0014g0038 a0002c0002t0004g0034 a0002c0002t0004g0039	25	340	0.0735	105	c.-14 others(126): Show c.-149+10892_-149+10893insAGTTATATATACATATATATGTAT ATAGTTATATATACATATATATGTATATAGTTATATATACATATATATGT ATATAGTTATATATACATATATATGTATATA		IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6						chr1	TogoVar
ILRUN_chr6_34582288_34701767	34686896	C C	CAGTGAGC others(98): Show CAGTGAGCCGAGATCATTCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCCAAAAAAAAAAAAAAAAAGAAAGGCAAGAATTCTCTGTAT GCCCAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00558.hp1 others(107): Show HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18942.hp1 NA18945.hp1 NA18947.hp1 NA18955.hp2 NA18957.hp2 NA18963.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19057.hp2 NA19065.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(106): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0185 a0001c0001t0001g0243 a0001c0001t0001g0294 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0003g0206 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0004g0006 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0005g0094 a0001c0001t0005g0095 a0001c0001t0005g0205 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0005g0211 a0001c0001t0005g0223 a0001c0001t0005g0224 a0001c0001t0005g0225 a0001c0001t0005g0231 a0001c0001t0005g0232 a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0237 a0001c0001t0005g0241 a0001c0001t0005g0295 a0001c0001t0006g0001 a0001c0001t0006g0196 a0001c0001t0006g0198 a0001c0001t0006g0199 a0001c0001t0006g0200 a0001c0001t0006g0201 a0001c0001t0006g0202 a0001c0001t0006g0203 a0001c0001t0006g0204 a0001c0001t0006g0207 a0001c0001t0006g0208 a0001c0001t0006g0230 a0001c0001t0006g0242 a0001c0001t0006g0286 a0001c0001t0006g0287 a0001c0001t0010g0305 a0001c0001t0010g0306 a0001c0001t0010g0307 a0001c0001t0015g0197 a0001c0001t0025g0233 a0001c0001t0026g0303 a0001c0001t0029g0315	110	118	0.9322	105	c.158 others(122): Show c.158+9549_158+9550insCTGGGCATACAGAGAATTCTTGCCTTTC TTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGAATGATCTCGGCTCACT		ILRUN	ENSG00000196821.10	transcript	ENST00000374023.8	protein_coding	1/4						chr6	TogoVar
INF2_chr14_104684618_104727535	104720443	T T	TCTCGTGT others(98): Show TCTCGTGTGGATGCTGCTGTGCACGTCTGCGTCGTCCTCGTGTGGATGCT GCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGC GTCGTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0059 a0001c0001t0006g0059	1	365	0.0027	105	c.16 others(116): Show c.1670_*1671insCACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGT GGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGT CCTCGTGTGGATGCTGCTGTG		INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	23/23				5125	INFO_REALIGN_3_PRIME	chr14	TogoVar
INF2_chr14_104684618_104727535	104720601	C C	CACGTCTG others(98): Show CACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTC CTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTG CTGTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG03669.hp2 HG00280.hp2 HG03669.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0034 a0002c0003t0034	a0002c0003t0034g0034 a0002c0003t0034g0034	2	72	0.0278	105	c.18 others(116): Show c.1823_*1927dupCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGT CCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCT GCTGTGGACGTCTGCGTCGTC		INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	23/23				5382	INFO_REALIGN_3_PRIME	chr14	TogoVar
INO80_chr15_40973880_41121280	41031612	A A	AGGAAGGG others(98): Show AGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGG AGGGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	173	0.0058	105	c.290 others(124): Show c.2908-3877_2908-3876insCTCCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTTCC		INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35						chr15	TogoVar
INTS1_chr7_1465277_1509389	1484943	A A	ACCCCGTC others(98): Show ACCCCGTCCCCTCCCCAGGGCCACACTGCCGGCTGGCCCCGTCCCCTCCC CAGGGCCACACTGCCGGCTGGCCCCGTCCCCTCCCCAGGGCCACACTGCC GGCTGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03540.hp1 HG03579.hp1 HG02630.hp2 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135	3	127	0.0236	105	c.326 others(121): Show c.3261+50_3261+154dupCCAGCCGGCAGTGTGGCCCTGGGGAGGGG ACGGGGCCAGCCGGCAGTGTGGCCCTGGGGAGGGGACGGGGCCAGCCGGC AGTGTGGCCCTGGGGAGGGGACGGGG		INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding	24/47						chr7	TogoVar
IRAG2_chr12_25047706_25113335	25077360	T T	TATGATAT others(98): Show TATGATATATATGATATATATATGAGATATATATGAGATATATATATGAG ATATATATATGATATATATATGAGATATATATATGAAATATATGAAATAT ATATGA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	319	0.0031	105	c.25- others(120): Show c.25-1884_25-1883insATGATATATATGATATATATATGAGATATA TATGAGATATATATATGAGATATATATATGATATATATATGAGATATATA TATGAAATATATGAAATATATATGA		IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21						chr12	TogoVar

Search by Variant

Search

Search Results