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
ENOSF1_chr18_665318_717630	666888	GGGAGATG others(101): Show GGGAGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATG GAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGT GATGGTGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	383	0.0026	-108	c.73 others(11): Show c.7309_*7416del		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3429		chr18	TogoVar
ENOSF1_chr18_665318_717630	666903	AGATGGTG others(101): Show AGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTG ATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTGATGGAGAT GGTGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00558.hp2 others(23): Show HG00099.hp2 HG00140.hp1 HG00558.hp2 HG00639.hp1 HG01081.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01928.hp2 HG01934.hp2 HG02148.hp2 HG03017.hp2 HG03491.hp2 HG03704.hp2 HG03927.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA18960.hp2 NA18995.hp1 NA19010.hp2 NA19062.hp1 NA19087.hp1 NA19088.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0024 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0024 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0018 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0189 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0259 a0001c0001t0001g0268 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0312 a0001c0001t0001g0323 a0001c0001t0001g0327 a0001c0001t0024g0291 a0002c0002t0001g0104 a0003c0004t0001g0383	26	275	0.0945	-108	c.72 others(11): Show c.7294_*7401del		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3414		chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5505516	CTCCACAC others(101): Show CTCCACACTTTCACCTCCACCCCTACCCTCCACACCTTCAGCTCTTACCC TCCCCACCATACCTTCACCTCCACCCCTACTCTCCACACCTTCACCTCCA CCTCTATGG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG04184.hp2 HG03130.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0002 a0001c0001t0013 a0001c0002t0002	a0001c0001t0013g0026 a0001c0002t0002g0220 a0001c0001t0013g0026 a0001c0002t0002g0220	2	220	0.0091	-108	c.-11 others(19): Show c.-11-16430_-11-16323del		EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22						chr18	TogoVar
ERFL_chr19_41902704_41933449	41914602	GTCTCTCC others(101): Show GTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTGTCTCTCCCTCCCTTTC CACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCC CTTCCACCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02165.hp1 HG03195.hp1 others(1): Show HG01884.hp1 HG02165.hp1 HG03195.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0005 a0001c0001t0001 a0001c0001t0003 a0001c0004t0005	a0001c0001t0001g0058 a0001c0001t0003g0228 a0001c0004t0005g0187 others(1): Show a0001c0001t0001g0058 a0001c0001t0003g0228 a0001c0004t0005g0187 a0001c0004t0005g0188	4	321	0.0125	-108	c.-13 others(17): Show c.-13-1778_-13-1671del		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERFL_chr19_41902704_41933449	41914629	GTCTCTGT others(101): Show GTCTCTGTCTCTCCCTCCCTTTCCACCATCTCTGTCTCTCCCTCCCCTTC CACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCC CTTCCACCA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01496.hp2 HG01978.hp2 HG01106.hp1 HG01496.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0012 a0001c0001t0001g0042 a0001c0001t0003g0037 a0001c0001t0001g0012 a0001c0001t0001g0042 a0001c0001t0003g0037	3	316	0.0095	-108	c.-13 others(17): Show c.-13-1805_-13-1698del		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERICH1_chr8_659200_736224	675624	GTGAGGAC others(101): Show GTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGG CGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp2 HG01175.hp1 others(8): Show HG00099.hp1 HG01099.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01433.hp2 HG01891.hp2 HG02647.hp2 HG03130.hp1 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0002t0001 a0003c0004t0002 a0001c0001t0001 a0001c0002t0001 a0003c0004t0002	a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0002t0001g0006 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0002t0001g0006 a0001c0002t0001g0021 a0001c0002t0001g0100 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0003c0004t0002g0293	11	374	0.0294	-108	c.305 others(17): Show c.305-1685_305-1578del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERO1B_chr1_236210101_236286958	236245418	ATATATAC others(101): Show ATATATACGTATATATATACACACGTATATATATACGTATATATATACAC ACGTATATATATACGTATATATATACACGTATATATATATGTGTGTATGT ATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00673.hp2 HG01243.hp2 others(4): Show HG00323.hp1 HG00673.hp2 HG01243.hp2 HG01496.hp1 NA18968.hp1 NA19043.hp1 NA19083.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0021 a0003c0004t0025	a0001c0001t0001g0058 a0001c0001t0001g0067 a0001c0001t0002g0027 others(4): Show a0001c0001t0001g0058 a0001c0001t0001g0067 a0001c0001t0002g0027 a0001c0001t0002g0089 a0001c0001t0009g0019 a0001c0001t0021g0026 a0003c0004t0025g0025	7	394	0.0178	-108	c.432 others(17): Show c.432-2031_432-1924del		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15						chr1	TogoVar
ETNPPL_chr4_108737053_108768053	108747143	TATATAAT others(101): Show TATATAATATATATATATATATTATATATATATATATAATATATATATAT ATTATATATATATATAATATATATATATATATTATATATATATATATAAT ATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02965.hp1 others(3): Show HG01884.hp2 HG02572.hp1 HG02965.hp1 HG03471.hp1 HG03471.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0004t0002 a0002c0002t0002 a0002c0004t0002	a0002c0002t0002g0036 a0002c0002t0002g0298 a0002c0002t0002g0299 others(2): Show a0002c0002t0002g0036 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0004t0002g0262	6	271	0.0221	-108	c.108 others(17): Show c.1083-400_1083-293del		ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	9/12						chr4	TogoVar
EXOC2_chr6_480154_698139	676076	CGACTGCG others(101): Show CGACTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGGTTCCTC TGGAGACTCTGAGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGGT TCCTCTGGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(135): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01517.hp1 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19072.hp1 NA19074.hp2 NA19077.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0001c0011 a0001c0015 a0001c0017 a0002c0005 a0006c0012 a0007c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0002t0012 a0001c0002t0020 a0001c0002t0021 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0016 a0001c0003t0017 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0007t0002 a0001c0010t0002 a0001c0011t0008 a0001c0015t0003 a0001c0017t0005 a0002c0005t0002 a0006c0012t0001 a0007c0023t0002	a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 others(135): Show a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0049 a0001c0001t0002g0104 a0001c0001t0003g0005 a0001c0001t0003g0028 a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0074 a0001c0001t0003g0084 a0001c0001t0003g0111 a0001c0001t0003g0117 a0001c0001t0003g0122 a0001c0001t0003g0137 a0001c0001t0004g0011 a0001c0001t0004g0050 a0001c0001t0004g0076 a0001c0001t0004g0081 a0001c0001t0004g0087 a0001c0001t0004g0101 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0143 a0001c0001t0005g0024 a0001c0001t0005g0027 a0001c0001t0005g0075 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0091 a0001c0001t0006g0033 a0001c0001t0006g0093 a0001c0001t0006g0115 a0001c0001t0006g0129 a0001c0001t0007g0150 a0001c0001t0009g0103 a0001c0001t0009g0112 a0001c0001t0015g0019 a0001c0001t0018g0083 a0001c0001t0019g0090 a0001c0001t0026g0269 a0001c0002t0001g0008 a0001c0002t0001g0030 a0001c0002t0001g0052 a0001c0002t0001g0058 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0073 a0001c0002t0001g0099 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0002g0031 a0001c0002t0002g0041 a0001c0002t0002g0060 a0001c0002t0002g0071 a0001c0002t0002g0118 a0001c0002t0003g0054 a0001c0002t0004g0009 a0001c0002t0004g0018 a0001c0002t0004g0022 a0001c0002t0004g0070 a0001c0002t0005g0023 a0001c0002t0006g0132 a0001c0002t0010g0035 a0001c0002t0010g0053 a0001c0002t0012g0055 a0001c0002t0012g0056 a0001c0002t0020g0036 a0001c0002t0021g0037 a0001c0003t0001g0062 a0001c0003t0002g0020 a0001c0003t0002g0063 a0001c0003t0002g0155 a0001c0003t0007g0157 a0001c0003t0016g0029 a0001c0003t0017g0193 a0001c0004t0002g0156 a0001c0004t0003g0079 a0001c0004t0003g0116 a0001c0004t0004g0006 a0001c0007t0002g0123 a0001c0010t0002g0264 a0001c0010t0002g0265 a0001c0011t0008g0154 a0001c0015t0003g0048 a0001c0017t0005g0082 a0002c0005t0002g0097 a0006c0012t0001g0094 a0007c0023t0002g0046	138	253	0.5455	-108	c.-44 others(19): Show c.-44+16835_-44+16942del		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27						chr6	TogoVar
EXOC3L4_chr14_103089725_103115559	103109543	CCCTCCCT others(101): Show CCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCT CCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCA TGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0030 a0030	a0030c0070 a0030c0070	a0030c0070t0002 a0030c0070t0002	a0030c0070t0002g0217 a0030c0070t0002g0217	1	402	0.0025	-108	c.197 others(17): Show c.1977-449_1977-342del		EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
EZR_chr6_158760748_158824368	158803528	TATATATA others(101): Show TATATATATATATATATGTATATATATATATATATATATATATATATATA TATACATATATATATATATATATATATACATATATATATATATATATACA TATACATAC	T T	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	290	0.0034	-108	c.13- others(17): Show c.13-14265_13-14158del		EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13						chr6	TogoVar
F10_chr13_113117799_113154529	113154182	GGAGGGGC others(101): Show GGAGGGGCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCGTGGGGGGGCG GGCCGTGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGG GCACGTGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0328 a0001c0002t0001g0328	1	409	0.0024	-108	c.46 others(11): Show c.4666_*4773del		F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding					4654		chr13	TogoVar
FAM171A1_chr10_15206643_15376289	15229813	CCACCATC others(101): Show CCACCATCACCATCATCATCATCACCACCATCACCATCATCACCATCACC CCCATCACCATCATCACCATCACCACCATCACCATCATCACCATCACCAC CATCACCAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp1 HG02559.hp2 others(1): Show HG01109.hp1 HG02257.hp1 HG02559.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0132 a0001c0001t0001g0171 a0001c0001t0010g0008 others(1): Show a0001c0001t0001g0132 a0001c0001t0001g0171 a0001c0001t0010g0008 a0001c0001t0010g0009	4	302	0.0132	-108	c.755 others(17): Show c.755-8861_755-8754del		FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	5/7						chr10	TogoVar
FBLN7_chr2_112133385_112193218	112139427	TGTCCCTC others(101): Show TGTCCCTCACGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCTCTCTCCAGG CTAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTC CAGGTCAGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(81): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00558.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01346.hp1 HG01496.hp2 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02056.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02698.hp1 HG02735.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18942.hp1 NA18947.hp2 NA18955.hp1 NA18962.hp2 NA18968.hp1 NA18969.hp2 NA18999.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19066.hp2 NA19068.hp2 NA19091.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0005 a0001c0007 others(2): Show a0001c0001 a0001c0005 a0001c0007 a0006c0008 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0005t0007 a0001c0007t0001 a0006c0008t0001 a0007c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(69): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0002g0082 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0003g0081 a0001c0001t0003g0086 a0001c0001t0003g0091 a0001c0001t0003g0293 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0127 a0001c0001t0004g0132 a0001c0001t0004g0134 a0001c0001t0005g0033 a0001c0001t0006g0077 a0001c0001t0006g0123 a0001c0001t0006g0126 a0001c0001t0006g0128 a0001c0001t0006g0129 a0001c0001t0006g0131 a0001c0001t0012g0300 a0001c0005t0007g0020 a0001c0007t0001g0075 a0006c0008t0001g0114 a0007c0009t0001g0078	84	343	0.2449	-108	c.75+ others(13): Show c.75+705_75+812del		FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
FBLN7_chr2_112133385_112193218	112139508	CGTCCCTC others(101): Show CGTCCCTCCCGCCTCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGG CCAGCGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTC CAGGCTAGT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	328	0.0030	-108	c.75+ others(13): Show c.75+801_75+908del		FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
FBLN7_chr2_112133385_112193218	112139558	CCAGCGTC others(101): Show CCAGCGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTC CAGGCTAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTC TCTCCAGGT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp1 HG02922.hp1 HG02451.hp2 HG02615.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0005g0288 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0005g0288	3	343	0.0087	-108	c.75+ others(13): Show c.75+853_75+960del		FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
FBRSL1_chr12_132485151_132590188	132562984	ACCTGGCC others(101): Show ACCTGGCCCCCACAGCCTGCACCCCACACCTGGCCCCCACAGCCTGCACC CCACGCCTGGCCCCCACAGCCTGCACCCCACGCCTGGCCCCCACAGCCTG CACCCCACG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00438.hp1 others(106): Show HG00099.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02129.hp1 HG02135.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp2 NA18994.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0002 a0003 a0007 others(15): Show a0002 a0003 a0007 a0008 a0011 a0012 a0014 a0016 a0018 a0020 a0024 a0028 a0031 a0032 a0035 a0039 a0045 a0047	a0002c0002 a0002c0004 a0002c0024 others(23): Show a0002c0002 a0002c0004 a0002c0024 a0003c0001 a0003c0007 a0003c0044 a0003c0046 a0003c0048 a0007c0022 a0008c0028 a0008c0045 a0008c0047 a0011c0009 a0012c0036 a0014c0016 a0016c0014 a0018c0060 a0020c0026 a0024c0029 a0028c0049 a0031c0089 a0032c0041 a0035c0042 a0039c0072 a0045c0088 a0047c0040	a0002c0002t0001 a0002c0002t0039 a0002c0004t0001 others(34): Show a0002c0002t0001 a0002c0002t0039 a0002c0004t0001 a0002c0004t0002 a0002c0024t0001 a0003c0001t0001 a0003c0001t0002 a0003c0001t0003 a0003c0001t0010 a0003c0001t0014 a0003c0007t0001 a0003c0044t0001 a0003c0046t0001 a0003c0048t0002 a0007c0022t0002 a0008c0028t0006 a0008c0045t0003 a0008c0047t0003 a0011c0009t0001 a0011c0009t0002 a0012c0036t0002 a0014c0016t0001 a0016c0014t0001 a0016c0014t0002 a0016c0014t0014 a0018c0060t0001 a0020c0026t0001 a0020c0026t0002 a0024c0029t0001 a0024c0029t0002 a0028c0049t0004 a0031c0089t0002 a0032c0041t0002 a0035c0042t0002 a0039c0072t0001 a0045c0088t0021 a0047c0040t0002	a0002c0002t0001g0006 a0002c0002t0001g0238 a0002c0002t0001g0239 others(105): Show a0002c0002t0001g0006 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0246 a0002c0002t0001g0295 a0002c0002t0039g0304 a0002c0004t0001g0101 a0002c0004t0001g0119 a0002c0004t0002g0072 a0002c0004t0002g0084 a0002c0004t0002g0089 a0002c0004t0002g0102 a0002c0004t0002g0103 a0002c0004t0002g0104 a0002c0004t0002g0114 a0002c0004t0002g0116 a0002c0004t0002g0117 a0002c0004t0002g0118 a0002c0004t0002g0130 a0002c0004t0002g0134 a0002c0004t0002g0136 a0002c0004t0002g0137 a0002c0004t0002g0138 a0002c0004t0002g0259 a0002c0004t0002g0306 a0002c0024t0001g0339 a0002c0024t0001g0340 a0003c0001t0001g0151 a0003c0001t0001g0184 a0003c0001t0001g0185 a0003c0001t0001g0190 a0003c0001t0001g0194 a0003c0001t0001g0219 a0003c0001t0001g0220 a0003c0001t0002g0005 a0003c0001t0002g0149 a0003c0001t0002g0150 a0003c0001t0002g0152 a0003c0001t0002g0153 a0003c0001t0002g0154 a0003c0001t0002g0157 a0003c0001t0002g0175 a0003c0001t0002g0177 a0003c0001t0002g0178 a0003c0001t0002g0179 a0003c0001t0002g0182 a0003c0001t0002g0183 a0003c0001t0002g0186 a0003c0001t0002g0195 a0003c0001t0002g0198 a0003c0001t0002g0199 a0003c0001t0002g0200 a0003c0001t0002g0201 a0003c0001t0002g0202 a0003c0001t0002g0203 a0003c0001t0002g0204 a0003c0001t0002g0207 a0003c0001t0002g0209 a0003c0001t0002g0212 a0003c0001t0002g0215 a0003c0001t0002g0217 a0003c0001t0002g0225 a0003c0001t0002g0227 a0003c0001t0002g0231 a0003c0001t0003g0189 a0003c0001t0010g0165 a0003c0001t0010g0166 a0003c0001t0010g0168 a0003c0001t0014g0167 a0003c0007t0001g0156 a0003c0007t0001g0160 a0003c0007t0001g0161 a0003c0007t0001g0173 a0003c0007t0001g0193 a0003c0007t0001g0232 a0003c0044t0001g0211 a0003c0046t0001g0218 a0003c0048t0002g0196 a0007c0022t0002g0115 a0007c0022t0002g0121 a0007c0022t0002g0131 a0008c0028t0006g0187 a0008c0045t0003g0197 a0008c0047t0003g0206 a0011c0009t0001g0226 a0011c0009t0002g0158 a0011c0009t0002g0176 a0011c0009t0002g0221 a0011c0009t0002g0228 a0012c0036t0002g0135 a0014c0016t0001g0088 a0016c0014t0001g0188 a0016c0014t0002g0145 a0016c0014t0002g0205 a0016c0014t0014g0162 a0018c0060t0001g0006 a0020c0026t0001g0191 a0020c0026t0002g0164 a0024c0029t0001g0163 a0024c0029t0002g0192 a0028c0049t0004g0222 a0031c0089t0002g0159 a0032c0041t0002g0214 a0035c0042t0002g0216 a0039c0072t0001g0237 a0045c0088t0021g0338 a0047c0040t0002g0210	109	249	0.4378	-108	c.646 others(17): Show c.646-4470_646-4363del		FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FEZ1_chr11_125437881_125501265	125493400	AAGAAAGA others(101): Show AAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAG GAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAAGA AAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0030 a0001c0001t0012g0030	1	354	0.0028	-108	c.-46 others(17): Show c.-46+2613_-46+2720del		FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	1/9						chr11	TogoVar
FLT4_chr5_180596506_180654600	180634945	CATGGAGG others(101): Show CATGGAGGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGCTGAGAGGA TGGATGCATGGATGGACGGAAGTATGGGTGGATGGGTGGATGGGTGGGTG GGTGGGTGG	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02976.hp2 NA19240.hp1 HG02735.hp1 HG02976.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0002 a0002c0011t0014 a0001c0001t0002 a0002c0011t0014	a0001c0001t0002g0311 a0001c0001t0002g0312 a0002c0011t0014g0167 a0001c0001t0002g0311 a0001c0001t0002g0312 a0002c0011t0014g0167	3	342	0.0088	-108	c.59- others(15): Show c.59-3275_59-3168del		FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29						chr5	TogoVar
FMN1_chr15_32760544_33199714	32949946	TATATATA others(101): Show TATATATATATATATATATACACACATATATATACACACACATATATATA CACATACACATATATATATACACATATATATATATATACACATATATATA TATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02965.hp2 NA19065.hp1 HG02572.hp2 HG02965.hp2 NA19065.hp1	a0010 a0021 a0044 a0010 a0021 a0044	a0010c0016 a0021c0074 a0044c0071 a0010c0016 a0021c0074 a0044c0071	a0010c0016t0058 a0021c0074t0012 a0044c0071t0007 a0010c0016t0058 a0021c0074t0012 a0044c0071t0007	a0010c0016t0058g0167 a0021c0074t0012g0116 a0044c0071t0007g0030 a0010c0016t0058g0167 a0021c0074t0012g0116 a0044c0071t0007g0030	3	191	0.0157	-108	c.313 others(21): Show c.3138+14053_3138+14160del		FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	9/20						chr15	TogoVar
FOXN3_chr14_89151177_89422233	89360856	CCACCACC others(101): Show CCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCACCTCC ACCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCACCACCAC CACCTCCAG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0222 a0001c0001t0015g0222	1	198	0.0051	-108	c.544 others(19): Show c.544-10156_544-10049del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361159	GCACTACC others(101): Show GCACTACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCACC ACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAGCACCACCTC CACCACCAC	G G	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0137 a0001c0003t0001g0137	1	144	0.0069	-108	c.544 others(19): Show c.544-10459_544-10352del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361163	TACCTCCA others(101): Show TACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCACCACCA CCTCCACCACCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACC ACCACCACC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	82	0.0122	-108	c.544 others(19): Show c.544-10463_544-10356del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361498	ACCTCCAC others(101): Show ACCTCCACCACTACCACCTCCACCACCACCTCCACCACCACCACCTCCAG CACCACCTCCACCACCACCTCCACCACCACCTCCACCACTACCACCTCCA GCACTACCT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0086 a0001c0001t0025g0086	1	220	0.0045	-108	c.544 others(19): Show c.544-10798_544-10691del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361823	CCACCACC others(101): Show CCACCACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACC TCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCAC CACCTCCAG	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	188	0.0053	-108	c.544 others(19): Show c.544-11123_544-11016del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362009	CCACCACC others(101): Show CCACCACCTCCACCACTACCACCTCCAGCACCACCACCTCCACCACCACC TCCACCACTACCACCTCCAGCACCACCTCCACCACTACCACCTCCAGCAC CACCTCCAC	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	201	0.0050	-108	c.544 others(19): Show c.544-11309_544-11202del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FSCB_chr14_44499149_44512283	44504951	AGGGGCCT others(101): Show AGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGCGGGGGCCTCCTCAG CTGGTGGAGGCTGAACTTCAGCGGGGGCCTCCTCAGCTGGTGGAGGCTGA ACTTCAGCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01515.hp1 HG01515.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	220	0.0045	-108	c.192 others(9): Show c.1929_2036del	p.Ala others(13): Show p.Ala644_Pro679del	FSCB	ENSG00000189139.6	transcript	ENST00000340446.5	protein_coding	1/1	2332/3135	1929/2478	643/825			chr14	TogoVar
FTCD_chr21_46131779_46160579	46157283	TTCTCCTG others(101): Show TTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCACCCGCTACC ACACCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGT TGGCCAGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0146 a0002c0005t0001g0146	1	228	0.0044	-108	c.-18 others(11): Show c.-1868_-1761del		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding					1705		chr21	TogoVar
GABPB1_chr15_50270389_50360198	50340852	TTATTACA others(101): Show TTATTACATATGGTTTATTACCATATGTAATATTACATATTACATATGGT TTATTACCATATGTAATATTACATATTACATATGGTTTATTACCATATGT AATATTACA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02717.hp1 HG01069.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0020 a0001c0001t0004 a0001c0001t0020	a0001c0001t0004g0251 a0001c0001t0020g0270 a0001c0001t0004g0251 a0001c0001t0020g0270	2	220	0.0091	-108	c.-1+ others(17): Show c.-1+14025_-1+14132del		GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8						chr15	TogoVar
GALNS_chr16_88808734_88861947	88831234	TGCGTGGG others(101): Show TGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAG AGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGA GCACGGGGA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02155.hp1 NA18959.hp1 others(2): Show HG00673.hp2 HG02155.hp1 NA18959.hp1 NA18992.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0003c0007 a0001c0002 a0001c0004 a0003c0007	a0001c0002t0002 a0001c0004t0001 a0003c0007t0004 a0001c0002t0002 a0001c0004t0001 a0003c0007t0004	a0001c0002t0002g0089 a0001c0002t0002g0174 a0001c0002t0002g0210 others(2): Show a0001c0002t0002g0089 a0001c0002t0002g0174 a0001c0002t0002g0210 a0001c0004t0001g0065 a0003c0007t0004g0110	5	401	0.0125	-108	c.100 others(17): Show c.1002+656_1002+763del		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13						chr16	TogoVar
GALNS_chr16_88808734_88861947	88831342	AGCGTGGG others(101): Show AGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAG AGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGA GCACGGGGT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02630.hp1 HG01081.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0015 a0001c0001t0002g0016	2	263	0.0076	-108	c.100 others(17): Show c.1002+548_1002+655del		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13						chr16	TogoVar
GALNS_chr16_88808734_88861947	88831522	TGCGTGGG others(101): Show TGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAG AGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGA GCACGGGGA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01074.hp1 HG04228.hp1 HG00609.hp2 HG01074.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0265 a0001c0002t0001g0106 a0001c0002t0002g0374 a0001c0001t0001g0265 a0001c0002t0001g0106 a0001c0002t0002g0374	3	402	0.0075	-108	c.100 others(17): Show c.1002+368_1002+475del		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13						chr16	TogoVar
GALNS_chr16_88808734_88861947	88831630	AGCGTGGG others(101): Show AGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAG AGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGA GCACGGGGT	A A	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	89	0.0112	-108	c.100 others(17): Show c.1002+260_1002+367del		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13						chr16	TogoVar
GALR1_chr18_77244848_77282900	77252872	CCACCACC others(101): Show CCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCAT CACCACCAT	C C	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0063 a0001c0002t0063	a0001c0002t0063g0036 a0001c0002t0063g0036	1	359	0.0028	-108	c.666 others(17): Show c.666+1682_666+1789del		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GASK1A_chr3_42974311_43062715	43012538	CTATGTGA others(101): Show CTATGTGAAGTCACAGGGAAGGGCAGTGTGGAGCCACAGGCAGTGTGAGG CCACAGGAAGGAGCTGTGTGAAGTCACAGGAAGGGAAGTGGAAAGTCACA TGAAGGGGA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG02965.hp2 others(3): Show HG01891.hp2 HG02486.hp2 HG02965.hp2 HG02976.hp2 NA20300.hp2 NA20805.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0006 a0003c0003 a0002c0002 a0002c0006 a0003c0003	a0002c0002t0004 a0002c0006t0002 a0003c0003t0002 a0002c0002t0004 a0002c0006t0002 a0003c0003t0002	a0002c0002t0004g0293 a0002c0006t0002g0200 a0002c0006t0002g0203 others(3): Show a0002c0002t0004g0293 a0002c0006t0002g0200 a0002c0006t0002g0203 a0002c0006t0002g0204 a0002c0006t0002g0221 a0003c0003t0002g0197	6	339	0.0177	-108	c.4-1 others(15): Show c.4-19621_4-19514del		GASK1A	ENSG00000144649.10	transcript	ENST00000430121.3	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
GATA5_chr20_62458497_62480995	62476928	TCTTTCTT others(101): Show TCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTTTCTTTCTCGG AGCACACCGGGTGGACCCAGGCTTGGCGGCCATGAAAGTTCTTTTTTCTT TCTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0275 a0001c0004t0003g0275	1	378	0.0026	-108	c.-11 others(11): Show c.-1128_-1021del		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					934		chr20	TogoVar
GCGR_chr17_81799150_81819008	81814729	GGCCTACG others(101): Show GGCCTACGCCAGTCCTCGTGCCACACAGAGAGGTCCGGCCTACGCCAGTC CTCGTGCCACACAGAGAGGTCCGGCCTACGCCAGTCCTCGTGCCACACAG AGAGGTCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00642.hp1 HG00741.hp1 others(53): Show HG00597.hp2 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01167.hp1 HG01192.hp2 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02132.hp1 HG02155.hp2 HG02257.hp1 HG02300.hp1 HG02451.hp2 HG04228.hp1 NA18747.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18959.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp2 NA18977.hp2 NA18980.hp2 NA18988.hp1 NA18998.hp1 NA19000.hp1 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp2 NA19082.hp1 NA19083.hp2 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0003 a0007c0009 a0001c0002 a0001c0003 a0007c0009	a0001c0002t0002 a0001c0003t0002 a0007c0009t0002 a0001c0002t0002 a0001c0003t0002 a0007c0009t0002	a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0008 others(19): Show a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0008 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0036 a0001c0002t0002g0076 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0003t0002g0004 a0001c0003t0002g0020 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0093 a0007c0009t0002g0008	56	406	0.1379	-108	c.10 others(11): Show c.1041_*1148del		GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding					722		chr17	TogoVar
GCNT3_chr15_59606783_59627723	59611100	CTCCTCCC others(101): Show CTCCTCCCCCTCCCCTTCTCCTCCCCCTCCCCTTCTCCTCCCCCTCCCCT TCTCCTCCCCCTCCCCTTCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT TTCTTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18959.hp1 NA18971.hp1 others(3): Show NA18952.hp1 NA18959.hp1 NA18971.hp1 NA18993.hp1 NA18995.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0014 a0001c0002t0018 a0001c0002t0011 a0001c0002t0014 a0001c0002t0018	a0001c0002t0011g0007 a0001c0002t0014g0007 a0001c0002t0018g0007 a0001c0002t0011g0007 a0001c0002t0014g0007 a0001c0002t0018g0007	6	340	0.0176	-108	c.-11 others(11): Show c.-1131_-1024del		GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding					682		chr15	TogoVar
GIPC3_chr19_3580478_3598541	3590599	GAACTCAG others(101): Show GAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGC TCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCC CAGCTCTAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00733.hp1 HG00741.hp1 others(14): Show HG00140.hp1 HG00733.hp1 HG00741.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01346.hp1 HG02055.hp1 HG02109.hp2 HG02257.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03139.hp2 HG03471.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 others(4): Show a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0024 a0001c0002t0014 a0001c0002t0025 a0001c0002t0063	a0001c0001t0014g0002 a0001c0001t0014g0006 a0001c0001t0015g0001 others(9): Show a0001c0001t0014g0002 a0001c0001t0014g0006 a0001c0001t0015g0001 a0001c0001t0015g0002 a0001c0001t0020g0001 a0001c0001t0020g0033 a0001c0001t0024g0001 a0001c0002t0014g0029 a0001c0002t0014g0087 a0001c0002t0025g0100 a0001c0002t0025g0101 a0001c0002t0063g0030	17	428	0.0397	-108	c.51 others(9): Show c.517_*624del		GIPC3	ENSG00000179855.9	transcript	ENST00000644452.3	protein_coding	6/6				517	INFO_REALIGN_3_PRIME	chr19	TogoVar
GLRX5_chr14_95530050_95549714	95534139	TTAAGAGG others(101): Show TTAAGAGGCCGAGGCAGGAGGATCCCTTGAAGCCAGGAGTTCGAGACCAG CCTGGGCAAAAAAGTGAGACATCGACCCCCCGCCCCCGCCGCCAATTCCG TCTCTACAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	458	0.0022	-108	c.-95 others(9): Show c.-950_-843del		GLRX5	ENSG00000182512.5	transcript	ENST00000331334.5	protein_coding					910		chr14	TogoVar
GMDS_chr6_1618806_2250605	1745309	TTGACTGT others(101): Show TTGACTGTTGGCTACTGGTGGGTCACTTGGAGAAACATGACTGTTGGCTA CTGGTGGGTCACTTGGAGAAACTTGACTGTTGGCTACTGGTGGGTCACTT GGAGAAACA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02896.hp1 HG01106.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0147 a0001c0001t0002g0088 a0001c0001t0001g0147 a0001c0001t0002g0088	2	164	0.0122	-108	c.772 others(17): Show c.772-2831_772-2724del		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10						chr6	TogoVar
GNG7_chr19_2506219_2707694	2575635	ACAGGCAC others(101): Show ACAGGCACACGCAGACACGCAGGCACACGCAGGCACATGCAGACACGCAG GCACACGCAGACACACGCAGACAGGCAGGCACACGCAGACACGCAGGCAC ACGCACACG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0116 a0001c0001t0011g0116	1	169	0.0059	-108	c.-77 others(19): Show c.-77-20555_-77-20448del		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4						chr19	TogoVar
GNG8_chr19_46628953_46641202	46635516	AGGGGAGA others(101): Show AGGGGAGATGGAGGGAGGGGGTGTGGGGTGGGAGAGGATGGGGAGATGGA GGGAGGGGGTGTGGGGTGGGAGAGGATGGAGGAGATGGACGGATGGGGTG GGAGAGGAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(85): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01261.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02293.hp2 HG02451.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02970.hp1 HG03017.hp2 HG03139.hp1 HG03453.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp1 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18944.hp2 NA18946.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp2 NA18975.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18990.hp1 NA18997.hp1 NA19001.hp1 NA19007.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19082.hp2 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0017 others(13): Show a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0002g0033 a0001c0001t0002g0060 a0001c0001t0002g0070 a0001c0001t0003g0010 a0001c0001t0003g0016 a0001c0002t0001g0005 a0001c0002t0001g0035 a0001c0002t0001g0059	88	434	0.2028	-108	c.-44 others(15): Show c.-44+523_-44+630del		GNG8	ENSG00000167414.5	transcript	ENST00000693335.1	protein_coding	1/2						chr19	TogoVar
GP6_chr19_55008705_55043264	55027247	GCAGCCCA others(101): Show GCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACCTCTGGCGCCGC CCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCTTTCCCACCTATGGCC GCGCCCCTA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01884.hp2 HG01891.hp1 others(5): Show HG01167.hp1 HG01884.hp2 HG01891.hp1 HG02922.hp2 HG03471.hp1 HG03486.hp1 NA18522.hp1 NA20300.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0016 a0008c0010 a0001c0001 a0003c0016 a0008c0010	a0001c0001t0001 a0003c0016t0003 a0008c0010t0003 a0001c0001t0001 a0003c0016t0003 a0008c0010t0003	a0001c0001t0001g0169 a0001c0001t0001g0233 a0003c0016t0003g0349 others(5): Show a0001c0001t0001g0169 a0001c0001t0001g0233 a0003c0016t0003g0349 a0008c0010t0003g0295 a0008c0010t0003g0296 a0008c0010t0003g0351 a0008c0010t0003g0366 a0008c0010t0003g0367	8	440	0.0182	-108	c.610 others(15): Show c.610+223_610+330del		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	4/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55027288	TGGCGCCG others(101): Show TGGCGCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCTTTCCCA CCTATGGCCGCGCCCCTACAGCCCAGGGCTTCCTGCCCTCCCACTTCCTT CCCACCTAC	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02896.hp1 HG02004.hp2 HG02896.hp1	a0014 a0014	a0014c0038 a0014c0039 a0014c0038 a0014c0039	a0014c0038t0008 a0014c0039t0008 a0014c0038t0008 a0014c0039t0008	a0014c0038t0008g0406 a0014c0039t0008g0389 a0014c0038t0008g0406 a0014c0039t0008g0389	2	132	0.0152	-108	c.610 others(15): Show c.610+182_610+289del		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	4/7						chr19	TogoVar
GPC1_chr2_240430663_240473076	240453299	CCCCGCCC others(101): Show CCCCGCCCCGCTCCCACCGCCCGCCCCGCTCCCACCGCCCGCCCCGCTCC CACCGCCCGCCCCGCTCCCTCCGCCCGCCCCGCTCCCTCCGCCCGCCCCG CTCCCTCCG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00558.hp1 others(33): Show HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00639.hp2 HG00738.hp2 HG01192.hp2 HG01256.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp2 HG02040.hp2 HG02071.hp1 HG02132.hp1 HG02148.hp1 HG02293.hp1 HG02809.hp1 NA18612.hp1 NA18747.hp2 NA18945.hp1 NA18950.hp2 NA18951.hp2 NA18964.hp2 NA18971.hp2 NA18975.hp2 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19085.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0002c0001 a0001c0003 a0001c0005 a0002c0001	a0001c0003t0003 a0001c0003t0021 a0001c0005t0017 others(1): Show a0001c0003t0003 a0001c0003t0021 a0001c0005t0017 a0002c0001t0001	a0001c0003t0003g0001 a0001c0003t0003g0007 a0001c0003t0003g0024 others(22): Show a0001c0003t0003g0001 a0001c0003t0003g0007 a0001c0003t0003g0024 a0001c0003t0003g0040 a0001c0003t0003g0055 a0001c0003t0003g0058 a0001c0003t0003g0063 a0001c0003t0003g0086 a0001c0003t0003g0087 a0001c0003t0003g0091 a0001c0003t0003g0092 a0001c0003t0003g0093 a0001c0003t0003g0137 a0001c0003t0003g0151 a0001c0003t0003g0153 a0001c0003t0003g0162 a0001c0003t0003g0163 a0001c0003t0003g0218 a0001c0003t0003g0272 a0001c0003t0003g0273 a0001c0003t0003g0274 a0001c0003t0021g0017 a0001c0005t0017g0067 a0001c0005t0017g0134 a0002c0001t0001g0205	36	385	0.0935	-108	c.167 others(17): Show c.167-5716_167-5609del		GPC1	ENSG00000063660.9	transcript	ENST00000264039.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
GPC1_chr2_240430663_240473076	240453314	ACCGCCCG others(101): Show ACCGCCCGCCCCGCTCCCACCGCCCGCCCCGCTCCCACCGCCCGCCCCGC TCCCTCCGCCCGCCCCGCTCCCTCCGCCCGCCCCGCTCCCTCCGCCCGCC CCGCTCCCT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0297 a0001c0005t0005g0297	1	358	0.0028	-108	c.167 others(17): Show c.167-5698_167-5591del		GPC1	ENSG00000063660.9	transcript	ENST00000264039.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
GPC6_chr13_93221807_94413020	93231317	ATATATAT others(101): Show ATATATATATATACGTATATATATATATACATATATATATATACGTATAT ATATATATATATACATATATATATATATATGTATATATATATATATATAT ATATATACG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0021 a0001c0003t0014g0021	1	73	0.0137	-108	c.160 others(17): Show c.160+3714_160+3821del		GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
HMCN2_chr9_130260760_130439123	130277739	TCACCACC others(101): Show TCACCACCACCACCATCATCATCATCACCACCACCATCATCATCACCACC ACCATCATCATCACCACCACCACCATCATCATCATCACCACCACCATCAT CATCATCAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00639.hp1 others(21): Show HG00408.hp1 HG00597.hp1 HG00639.hp1 HG01346.hp2 HG01361.hp2 HG01516.hp2 HG02004.hp1 HG02080.hp1 HG02293.hp1 HG02602.hp1 HG02698.hp2 HG02886.hp1 HG02896.hp1 HG03704.hp2 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18945.hp2 NA18954.hp1 NA18984.hp2 NA18998.hp2 NA19068.hp1 NA20752.hp1 NA20905.hp2	a0001 a0003 a0004 others(15): Show a0001 a0003 a0004 a0006 a0007 a0008 a0013 a0030 a0042 a0050 a0054 a0056 a0059 a0065 a0067 a0081 a0083 a0086	a0001c0020 a0001c0122 a0001c0126 others(21): Show a0001c0020 a0001c0122 a0001c0126 a0001c0128 a0003c0121 a0004c0005 a0006c0195 a0006c0198 a0006c0208 a0007c0123 a0008c0192 a0008c0197 a0013c0027 a0030c0212 a0042c0191 a0050c0186 a0054c0175 a0056c0182 a0059c0189 a0065c0205 a0067c0209 a0081c0180 a0083c0206 a0086c0174	a0001c0020t0001 a0001c0122t0001 a0001c0126t0001 others(21): Show a0001c0020t0001 a0001c0122t0001 a0001c0126t0001 a0001c0128t0001 a0003c0121t0001 a0004c0005t0002 a0006c0195t0002 a0006c0198t0002 a0006c0208t0002 a0007c0123t0001 a0008c0192t0002 a0008c0197t0002 a0013c0027t0002 a0030c0212t0002 a0042c0191t0002 a0050c0186t0005 a0054c0175t0002 a0056c0182t0002 a0059c0189t0002 a0065c0205t0002 a0067c0209t0002 a0081c0180t0002 a0083c0206t0002 a0086c0174t0002	a0001c0020t0001g0146 a0001c0122t0001g0089 a0001c0126t0001g0142 others(21): Show a0001c0020t0001g0146 a0001c0122t0001g0089 a0001c0126t0001g0142 a0001c0128t0001g0143 a0003c0121t0001g0144 a0004c0005t0002g0158 a0006c0195t0002g0180 a0006c0198t0002g0159 a0006c0208t0002g0177 a0007c0123t0001g0145 a0008c0192t0002g0175 a0008c0197t0002g0160 a0013c0027t0002g0253 a0030c0212t0002g0173 a0042c0191t0002g0162 a0050c0186t0005g0179 a0054c0175t0002g0174 a0056c0182t0002g0172 a0059c0189t0002g0164 a0065c0205t0002g0170 a0067c0209t0002g0176 a0081c0180t0002g0178 a0083c0206t0002g0163 a0086c0174t0002g0171	24	256	0.0938	-108	c.260 others(17): Show c.260-6732_260-6625del		HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	1/97					INFO_REALIGN_3_PRIME	chr9	TogoVar
IGFN1_chr1_201185824_201233952	201209793	AATAAGGC others(101): Show AATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATAGGTTC AGGGAGCAAGGCAGGTTTTAGGGATGGTTTAGGGAGTTCTGGGGAAATGG GGTCAATGG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00423.hp1 HG00438.hp2 HG00544.hp1 others(109): Show HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG02027.hp2 HG02040.hp2 HG02083.hp1 HG02129.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG03098.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp2 NA19011.hp2 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA19091.hp2 NA20300.hp2 NA21309.hp2	a0001 a0004 a0024 others(14): Show a0001 a0004 a0024 a0036 a0038 a0045 a0047 a0062 a0063 a0064 a0067 a0071 a0073 a0080 a0082 a0086 a0094	a0001c0001 a0001c0012 a0001c0017 others(39): Show a0001c0001 a0001c0012 a0001c0017 a0001c0022 a0001c0041 a0001c0042 a0001c0063 a0001c0065 a0001c0073 a0001c0086 a0001c0087 a0001c0090 a0001c0092 a0001c0093 a0001c0094 a0001c0095 a0001c0096 a0004c0005 a0004c0029 a0004c0053 a0004c0054 a0004c0134 a0004c0135 a0004c0136 a0004c0137 a0004c0138 a0024c0040 a0024c0083 a0036c0050 a0038c0043 a0045c0133 a0047c0099 a0062c0064 a0063c0091 a0064c0132 a0067c0098 a0071c0131 a0073c0066 a0080c0085 a0082c0097 a0086c0103 a0094c0088	a0001c0001t0001 a0001c0012t0001 a0001c0012t0003 others(42): Show a0001c0001t0001 a0001c0012t0001 a0001c0012t0003 a0001c0012t0011 a0001c0017t0001 a0001c0022t0003 a0001c0041t0001 a0001c0042t0001 a0001c0063t0001 a0001c0065t0001 a0001c0073t0005 a0001c0086t0004 a0001c0087t0001 a0001c0090t0001 a0001c0092t0001 a0001c0093t0002 a0001c0094t0002 a0001c0095t0001 a0001c0096t0001 a0004c0005t0001 a0004c0005t0003 a0004c0029t0005 a0004c0053t0001 a0004c0054t0002 a0004c0134t0001 a0004c0135t0004 a0004c0136t0004 a0004c0137t0002 a0004c0138t0002 a0024c0040t0001 a0024c0083t0001 a0036c0050t0001 a0038c0043t0001 a0045c0133t0001 a0047c0099t0001 a0062c0064t0009 a0063c0091t0001 a0064c0132t0009 a0067c0098t0001 a0071c0131t0004 a0073c0066t0001 a0080c0085t0001 a0082c0097t0001 a0086c0103t0001 a0094c0088t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(84): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0132 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0243 a0001c0001t0001g0311 a0001c0012t0001g0020 a0001c0012t0001g0208 a0001c0012t0001g0212 a0001c0012t0001g0224 a0001c0012t0001g0233 a0001c0012t0003g0225 a0001c0012t0011g0197 a0001c0017t0001g0001 a0001c0017t0001g0050 a0001c0022t0003g0041 a0001c0022t0003g0142 a0001c0022t0003g0145 a0001c0041t0001g0001 a0001c0041t0001g0124 a0001c0042t0001g0047 a0001c0063t0001g0226 a0001c0065t0001g0020 a0001c0073t0005g0083 a0001c0086t0004g0169 a0001c0087t0001g0045 a0001c0090t0001g0177 a0001c0092t0001g0118 a0001c0093t0002g0140 a0001c0094t0002g0075 a0001c0095t0001g0126 a0001c0096t0001g0125 a0004c0005t0001g0009 a0004c0005t0001g0023 a0004c0005t0001g0059 a0004c0005t0001g0063 a0004c0005t0001g0202 a0004c0005t0001g0203 a0004c0005t0001g0270 a0004c0005t0001g0273 a0004c0005t0001g0277 a0004c0005t0001g0284 a0004c0005t0001g0291 a0004c0005t0001g0301 a0004c0005t0003g0262 a0004c0029t0005g0029 a0004c0029t0005g0090 a0004c0053t0001g0009 a0004c0054t0002g0269 a0004c0054t0002g0290 a0004c0134t0001g0059 a0004c0135t0004g0060 a0004c0136t0004g0281 a0004c0137t0002g0297 a0004c0138t0002g0282 a0024c0040t0001g0001 a0024c0083t0001g0001 a0036c0050t0001g0011 a0038c0043t0001g0046 a0045c0133t0001g0283 a0047c0099t0001g0001 a0062c0064t0009g0238 a0063c0091t0001g0129 a0064c0132t0009g0304 a0067c0098t0001g0001 a0071c0131t0004g0060 a0073c0066t0001g0207 a0080c0085t0001g0139 a0082c0097t0001g0138 a0086c0103t0001g0171 a0094c0088t0001g0045	112	425	0.2635	-108	c.490 others(9): Show c.4903_5010del	p.Lys others(15): Show p.Lys1635_Asp1670del	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	5034/11811	4903/11127	1635/3708		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results