Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
ARL4C_chr2_234488041_234502081	234501478	T T	TAGCCGAA others(42): Show TAGCCGAAAAAAACAGGGCGCCTTCCTGTTTTATTCTTGCTAAGCAGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	468	0.0021	49	c.-48 others(60): Show c.-4893_-4892insCCGCTGCTTAGCAAGAATAAAACAGGAAGGCGCC CTGTTTTTTTCGGCT		ARL4C	ENSG00000188042.8	transcript	ENST00000339728.6	protein_coding					4398		chr2	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA19009.hp2 NA19077.hp2 NA18964.hp2 NA19009.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0057 a0001c0002t0002g0279 a0001c0002t0008g0257 a0001c0002t0002g0057 a0001c0002t0002g0279 a0001c0002t0008g0257	3	434	0.0069	49	c.62 others(60): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAAAAAATATATATATA TATATATATATATAT		ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding					4762		chr3	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	434	0.0023	49	c.62 others(60): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATATAT		ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding					4762		chr3	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAAAATTATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0274 a0001c0002t0002g0274	1	434	0.0023	49	c.62 others(60): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAAATTATATATATATA TATATATATATATAT		ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding					4762		chr3	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 NA18995.hp2 HG02735.hp1 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0266 a0001c0002t0008g0258 a0001c0002t0002g0266 a0001c0002t0008g0258	2	434	0.0046	49	c.62 others(60): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAATATATATATATATA TATATATATATATAT		ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding					4762		chr3	TogoVar
ARMC10_chr7_103070140_103104759	103099593	T T	TGTGTGTG others(42): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0123 a0001c0001t0069g0123	1	390	0.0026	49	c.10 others(60): Show c.1040_*1041insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTG		ARMC10	ENSG00000170632.14	transcript	ENST00000323716.8	protein_coding	7/7				1041		chr7	TogoVar
ARMC2_chr6_108843422_108979476	108881296	C C	CCCTCCCC others(42): Show CCCTCCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18522.hp2 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0090 a0001c0001t0007g0088 a0001c0001t0005g0090 a0001c0001t0007g0088	2	290	0.0069	49	c.671 others(66): Show c.671+4949_671+4950insCCCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCT		ARMC2	ENSG00000118690.13	transcript	ENST00000392644.9	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
ARRDC2_chr19_18003170_18019102	18016198	G G	GGGGAGGG others(42): Show GGGGAGGGAGGGAGAGAGAGAGAAAGAGAAACAAAGGGAAGAGGAAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02145.hp1 others(3): Show HG01109.hp2 HG01884.hp2 HG02145.hp1 HG02630.hp2 HG02717.hp2 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0010 a0002c0003t0004g0061 a0002c0003t0004g0084 a0002c0003t0004g0010 a0002c0003t0004g0061 a0002c0003t0004g0084	6	414	0.0145	49	c.32 others(60): Show c.3232_*3233insGGGAGGGAGGGAGAGAGAGAGAAAGAGAAACAAA GGGAAGAGGAAGGAA		ARRDC2	ENSG00000105643.11	transcript	ENST00000222250.5	protein_coding					2097		chr19	TogoVar
ARSF_chrX_3036471_3117727	3036855	A A	ATATATAA others(42): Show ATATATAAAATATTATATAAAATATATATAAAATATTATATATATAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	193	0.0052	49	c.-48 others(60): Show c.-4837_-4836insTATATAAAATATTATATAAAATATATATAAAATA TTATATATATAATAT		ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding					4615		chrX	TogoVar
ARSF_chrX_3036471_3117727	3036861	A A	AAAATATT others(42): Show AAAATATTATATAAAATATATATAAAATATTATATATATAATATTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00735.hp1 others(5): Show HG00323.hp1 HG00642.hp1 HG00735.hp1 HG01884.hp1 HG03239.hp2 HG03688.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0000 a0001	a0000c0014 a0001c0002 a0001c0015 a0000c0014 a0001c0002 a0001c0015	a0000c0014t0002 a0001c0002t0001 a0001c0015t0007 a0000c0014t0002 a0001c0002t0001 a0001c0015t0007	a0000c0014t0002g0022 a0001c0002t0001g0011 a0001c0002t0001g0019 others(5): Show a0000c0014t0002g0022 a0001c0002t0001g0011 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0015t0007g0018	8	193	0.0415	49	c.-48 others(60): Show c.-4831_-4830insAAATATTATATAAAATATATATAAAATATTATAT ATATAATATTATATG		ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding					4609		chrX	TogoVar
ARSH_chrX_3001546_3039111	3036855	A A	ATATATAA others(42): Show ATATATAAAATATTATATAAAATATATATAAAATATTATATATATAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0002 a0007c0010t0002	a0007c0010t0002g0182 a0007c0010t0002g0182	1	248	0.0040	49	c.34 others(60): Show c.3470_*3471insTATATAAAATATTATATAAAATATATATAAAATA TTATATATATAATAT		ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding					2745		chrX	TogoVar
ARSH_chrX_3001546_3039111	3036855	A A	ATATATAA others(42): Show ATATATAAAATATTATATAAAATATATATAAATTATTATATATATAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0230 a0001c0002t0002g0230	1	248	0.0040	49	c.34 others(60): Show c.3470_*3471insTATATAAAATATTATATAAAATATATATAAATTA TTATATATATAATAT		ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding					2745		chrX	TogoVar
ARSH_chrX_3001546_3039111	3036861	A A	AAAATATT others(42): Show AAAATATTATATAAAATATATATAAAATATTATATATATAATATTATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00735.hp1 others(7): Show HG00323.hp1 HG00642.hp1 HG00735.hp1 HG01257.hp2 HG01516.hp2 HG01884.hp1 HG03239.hp2 HG03688.hp1 HG04184.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0002 a0001c0014t0002 a0001c0002t0002 a0001c0014t0002	a0001c0002t0002g0102 a0001c0002t0002g0145 a0001c0002t0002g0146 others(7): Show a0001c0002t0002g0102 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0157 a0001c0002t0002g0162 a0001c0002t0002g0173 a0001c0002t0002g0204 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0014t0002g0205	10	248	0.0403	49	c.34 others(60): Show c.3476_*3477insAAATATTATATAAAATATATATAAAATATTATAT ATATAATATTATATG		ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding					2751		chrX	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(42): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCTGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	308	0.0033	49	c.270 others(68): Show c.2701+3523_2701+3524insGCGCGCGCGCAGCGCGCACACACACA CACACACACACACACACACACAC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASB16_chr17_44165704_44184084	44180637	A A	ATCCGGGA others(42): Show ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	362	0.0028	49	c.22 others(60): Show c.2247_*2248insTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC TGGCCAGCCGTGCCG		ASB16	ENSG00000161664.7	transcript	ENST00000293414.6	protein_coding					1554		chr17	TogoVar
ASB18_chr2_236188459_236269406	236202794	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	250	0.0040	49	c.110 others(68): Show c.1102-6410_1102-6409insATATATATATATATATATATATATAT ATATATATATATTTTTTTTTTTT		ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	4/5						chr2	TogoVar
ASCC1_chr10_72091032_72221276	72198359	A A	AGGGGAGG others(42): Show AGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	216	0.0046	49	c.311 others(66): Show c.311-1371_311-1370insCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCC		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9						chr10	TogoVar
ATCAY_chr19_3875685_3933082	3908721	C C	CCCTCCCT others(42): Show CCCTCCCTCCCTCCCTCCCCCTCTCCCCCTCCCCTCCTCCCCTCCCCCCT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0174 a0001c0001t0006g0174	1	384	0.0026	49	c.647 others(64): Show c.647+352_647+353insCTCCCTCCCTCCCTCCCCCTCTCCCCCTCC CCTCCTCCCCTCCCCCCTC		ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
ATL2_chr2_38288954_38382273	38334902	T T	TTTATAAT others(42): Show TTTATAATATATAATATATATTATTTATAATATATAAATATATTTATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0028 a0003c0005t0028	a0003c0005t0028g0006 a0003c0005t0028g0006	1	236	0.0042	49	c.363 others(66): Show c.363+8365_363+8366insTATATAAATATATTTATATATTATAAAT AATATATATTATATATTATAA		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12						chr2	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718204	G G	GGCGGGGG others(42): Show GGCGGGGGTGCAGTCACGGATGTCTGCAGAGGGAGACGTCCAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0036 a0001c0020t0001g0036	1	376	0.0027	49	c.214 others(68): Show c.2140-2324_2140-2323insTTCCTTCCTGGACGTCTCCCTCTGCA GACATCCGTGACTGCACCCCCGC		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21						chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718682	G G	GGTGCAGT others(42): Show GGTGCAGTCACGGATGTCTGCGGAGGGAGACGTCCAGGAAGGAATGGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00558.hp1 others(17): Show HG00099.hp2 HG00323.hp1 HG00558.hp1 HG00609.hp2 HG01070.hp2 HG01243.hp2 HG01346.hp1 HG02165.hp1 HG02735.hp1 HG02922.hp1 NA18952.hp1 NA18969.hp1 NA18990.hp2 NA19002.hp2 NA19065.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0007 a0011 a0015	a0001c0001 a0002c0002 a0002c0003 others(5): Show a0001c0001 a0002c0002 a0002c0003 a0002c0038 a0006c0009 a0007c0026 a0011c0028 a0015c0045	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0002c0002t0001 a0002c0002t0003 a0002c0003t0001 a0002c0038t0001 a0006c0009t0001 a0007c0026t0001 a0011c0028t0001 a0015c0045t0001	a0001c0001t0001g0041 a0001c0001t0001g0151 a0001c0001t0001g0210 others(17): Show a0001c0001t0001g0041 a0001c0001t0001g0151 a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0228 a0001c0001t0001g0278 a0001c0001t0001g0368 a0001c0001t0002g0241 a0001c0001t0007g0375 a0001c0001t0010g0242 a0002c0002t0001g0088 a0002c0002t0001g0140 a0002c0002t0001g0312 a0002c0002t0003g0239 a0002c0003t0001g0300 a0002c0038t0001g0045 a0006c0009t0001g0202 a0007c0026t0001g0013 a0011c0028t0001g0059 a0015c0045t0001g0021	20	376	0.0532	49	c.214 others(68): Show c.2140-2802_2140-2801insGCCCCATTCCTTCCTGGACGTCTCCC TCCGCAGACATCCGTGACTGCAC		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21						chr7	TogoVar
ATP6V1FNB_chr7_128861330_128877047	128867881	T T	TAAATCCA others(42): Show TAAATCCATGAGATCTCCTAGGCACCGGCTGGCCTAATAGGTGCTATTTA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0021 a0001c0010t0021	a0001c0010t0021g0030 a0001c0010t0021g0030	1	442	0.0023	49	c.422 others(64): Show c.422-764_422-763insCACCGGCTGGCCTAATAGGTGCTATTTAAA ATCCATGAGATCTCCTAGG		ATP6V1FNB	ENSG00000272899.4	transcript	ENST00000609480.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr7	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(42): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	298	0.0034	49	c.119 others(66): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRN_chr20_3466018_3656118	3597071	T T	TATATATA others(42): Show TATATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0008 a0004c0011t0008	a0004c0011t0008g0168 a0004c0011t0008g0168	1	220	0.0046	49	c.346 others(66): Show c.3469+645_3469+646insTATATATATATATATATATATATATATA TATATATATATATATATAATA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	21/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATXN2L_chr16_28817999_28842232	28835078	T T	TCAGAGCA others(42): Show TCAGAGCAACCCACGCATGCTGACGTCGGGCAGCCATCCCCAGGCCATCG	frameshift_variant frameshift_variant	HIGH	HG03579.hp1 HG03579.hp1	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0007 a0006c0017t0007	a0006c0017t0007g0091 a0006c0017t0007g0091	1	382	0.0026	49	c.245 others(58): Show c.2455_2503dupCAGAGCAACCCACGCATGCTGACGTCGGGCAGCCAT CCCCAGGCCATCG	p.Val others(5): Show p.Val835fs	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	19/22	2765/4456	2504/3228	835/1075		INFO_REALIGN_3_PRIME	chr16	TogoVar
AUTS2_chr7_69593475_70798506	70003420	T T	TTATATAT others(42): Show TTATATATGAATATGTTATATATGAATATGTTATATATGAATATATATAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01175.hp2 others(14): Show HG00099.hp2 HG01081.hp2 HG01175.hp2 HG01952.hp2 HG02055.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03540.hp2 HG03704.hp1 HG04199.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0003t0027 a0001c0005t0030 a0002c0002t0024 a0002c0002t0026 a0002c0002t0031 a0002c0010t0033	a0001c0001t0001g0026 a0001c0001t0005g0005 a0001c0001t0005g0012 others(14): Show a0001c0001t0001g0026 a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0023 a0001c0001t0028g0021 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0003t0027g0009 a0001c0005t0030g0013 a0002c0002t0024g0059 a0002c0002t0026g0011 a0002c0002t0031g0007 a0002c0010t0033g0014	17	76	0.2237	49	c.522 others(70): Show c.522+103950_522+103951insGTTATATATGAATATATATAATAT ATATGAATATGTTATATATGAATAT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AXDND1_chr1_179360971_179559735	179418661	T T	TGGGGGGC others(42): Show TGGGGGGCCGACACCACCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG03453.hp1 HG01891.hp1 HG02280.hp1 HG03453.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0204 a0010c0017t0001g0205 a0010c0017t0001g0296 a0010c0017t0001g0204 a0010c0017t0001g0205 a0010c0017t0001g0296	3	356	0.0084	49	c.123 others(68): Show c.1230+7403_1230+7451dupCGACACCACCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGC		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0240 a0002c0002t0003g0240	1	268	0.0037	49	c.-38 others(60): Show c.-3878_-3877insTATATATATATATATATATATATATATATTTTTT TTTTTTTTTTTTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B4GALNT2_chr17_49127769_49181840	49150165	T T	TGCCTAGC others(42): Show TGCCTAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0050 a0001c0004t0050	a0001c0004t0050g0117 a0001c0004t0050g0117	1	380	0.0026	49	c.354 others(66): Show c.354-2634_354-2633insCCTAGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCG		B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
B4GALNT2_chr17_49127769_49181840	49150167	T T	TCCGGCCA others(42): Show TCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03654.hp1 HG04228.hp1 HG02735.hp1 HG03654.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0004	a0001c0001t0002g0073 a0001c0001t0002g0149 a0002c0002t0004g0195 a0001c0001t0002g0073 a0001c0001t0002g0149 a0002c0002t0004g0195	3	380	0.0079	49	c.354 others(66): Show c.354-2565_354-2517dupCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTC		B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
B4GALNT2_chr17_49127769_49181840	49150215	G G	GCCCGGCC others(42): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGCGGTCAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp2 others(73): Show HG00099.hp1 HG00408.hp1 HG00423.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG01099.hp2 HG01175.hp2 HG01192.hp1 HG01928.hp1 HG01928.hp2 HG01981.hp2 HG01993.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp2 HG02155.hp1 HG02273.hp1 HG02300.hp2 HG03041.hp2 HG03831.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp2 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0001t0040 a0001c0001t0041 a0001c0001t0046 a0001c0001t0048 a0002c0002t0004	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(64): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0103 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0245 a0001c0001t0001g0258 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0341 a0001c0001t0002g0002 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0031 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0066 a0001c0001t0002g0098 a0001c0001t0002g0140 a0001c0001t0002g0186 a0001c0001t0002g0194 a0001c0001t0002g0242 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0022g0018 a0001c0001t0040g0047 a0001c0001t0041g0188 a0001c0001t0046g0090 a0001c0001t0048g0176 a0002c0002t0004g0129	76	380	0.2000	49	c.354 others(66): Show c.354-2550_354-2549insCGGTCAGCCCCCCACCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGG		B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
B4GALNT3_chr12_454939_568509	545868	T T	TAAGAGGA others(42): Show TAAGAGGAATGGGGAGGAGCGAGGAGTGGGGAGGAGAGAGGAGTGGGGAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0006 a0006	a0006c0045 a0006c0045	a0006c0045t0003 a0006c0045t0003	a0006c0045t0003g0392 a0006c0045t0003g0392	1	394	0.0025	49	c.639 others(64): Show c.639+399_639+400insAAGAGGAATGGGGAGGAGCGAGGAGTGGGG AGGAGAGAGGAGTGGGGAG		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19						chr12	TogoVar
B4GALNT4_chr11_364499_387117	369395	G G	GCCCCGCC others(42): Show GCCCCGCCCCGCCTTCCCGCGCCCCGCACCCCGCGCCCCGCCCCGCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00544.hp1 others(57): Show HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00642.hp2 HG00735.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG02015.hp2 HG02040.hp2 HG02074.hp2 HG02148.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02559.hp2 HG02723.hp2 HG02886.hp2 HG02965.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 NA18522.hp1 NA18952.hp2 NA18966.hp1 NA19007.hp1 NA19012.hp1 NA19064.hp2 NA19081.hp2 NA19240.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0016 a0017 a0021	a0001c0001 a0001c0003 a0001c0005 others(13): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0004 a0002c0007 a0002c0030 a0003c0006 a0004c0012 a0004c0039 a0005c0009 a0006c0010 a0009c0019 a0016c0024 a0017c0025 a0021c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0005t0002 a0002c0002t0001 a0002c0004t0001 a0002c0004t0002 a0002c0007t0001 a0002c0030t0001 a0003c0006t0001 a0004c0012t0002 a0004c0039t0001 a0005c0009t0001 a0006c0010t0001 a0009c0019t0001 a0016c0024t0001 a0017c0025t0001 a0021c0031t0001	a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0036 others(57): Show a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0001t0002g0100 a0001c0001t0004g0013 a0001c0001t0005g0162 a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0003t0001g0073 a0001c0003t0002g0170 a0001c0003t0002g0171 a0001c0003t0002g0172 a0001c0003t0002g0173 a0001c0003t0002g0174 a0001c0003t0003g0015 a0001c0005t0002g0081 a0001c0005t0002g0082 a0001c0005t0002g0083 a0001c0005t0002g0085 a0001c0005t0002g0101 a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0112 a0002c0002t0001g0179 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0113 a0002c0004t0002g0128 a0002c0004t0002g0129 a0002c0007t0001g0054 a0002c0007t0001g0058 a0002c0030t0001g0120 a0003c0006t0001g0088 a0004c0012t0002g0109 a0004c0039t0001g0025 a0005c0009t0001g0131 a0006c0010t0001g0043 a0006c0010t0001g0044 a0009c0019t0001g0066 a0016c0024t0001g0012 a0017c0025t0001g0110 a0021c0031t0001g0059	60	184	0.3261	49	c.-40 others(58): Show c.-409_-408insCCCCGCCCCGCCTTCCCGCGCCCCGCACCCCGCGCC CCGCCCCGCCTCC		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding					103		chr11	TogoVar
B4GALNT4_chr11_364499_387117	369415	G G	GCCCCGCA others(42): Show GCCCCGCACCCCGCGCCCCGCCCCGCCTCCCCCCGCCCCGCCTTCCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	184	0.0054	49	c.-38 others(58): Show c.-389_-388insCCCCGCACCCCGCGCCCCGCCCCGCCTCCCCCCGCC CCGCCTTCCGCGC		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding					83		chr11	TogoVar
B4GALNT4_chr11_364499_387117	374718	A A	AAGGGAGG others(42): Show AAGGGAGGGAGGAGGAAGGGAGGGAGGGGGAAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA19012.hp1 HG02080.hp2 NA19012.hp1	a0001 a0009 a0001 a0009	a0001c0003 a0009c0019 a0001c0003 a0009c0019	a0001c0003t0001 a0009c0019t0001 a0001c0003t0001 a0009c0019t0001	a0001c0003t0001g0176 a0009c0019t0001g0066 a0001c0003t0001g0176 a0009c0019t0001g0066	2	184	0.0109	49	c.784 others(64): Show c.784-717_784-716insGGGAAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGAGGAAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374775	A A	AGGAAGGG others(42): Show AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG00323.hp2 HG01070.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0081 a0001c0005t0002g0101 a0001c0005t0002g0081 a0001c0005t0002g0101	2	184	0.0109	49	c.784 others(64): Show c.784-672_784-671insGAGGAGGAAGGGAGGGAGGGGGAAGGGAGG GAGGGGGAAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374789	G G	GGGGAAGG others(42): Show GGGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0144 a0002c0033t0001g0144	1	184	0.0054	49	c.784 others(64): Show c.784-672_784-671insGGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGA		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19						chr11	TogoVar
BAG3_chr10_119646380_119682819	119675879	C C	CTTCCTTC others(42): Show CTTCCTTCCTCCTTCCTTCTTCCCCTTCCCCTTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0064 a0002c0003t0007g0064	1	420	0.0024	49	c.910 others(64): Show c.910-585_910-584insTTCCTTCCTCCTTCCTTCTTCCCCTTCCCC TTCCCTTCCTTCCTTCCTT		BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3						chr10	TogoVar
BAHCC1_chr17_81390457_81471331	81432547	A A	AGGCCCAC others(42): Show AGGCCCACCCTCCCTCCCATCGCCGGGCCCCACCCTCCCTCCCATCGCCG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0103 a0001c0103	a0001c0103t0026 a0001c0103t0026	a0001c0103t0026g0245 a0001c0103t0026g0245	1	332	0.0030	49	c.358 others(66): Show c.358+5597_358+5598insCACCCTCCCTCCCATCGCCGGGCCCACC CTCCCTCCCATCGCCGGGCCC		BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	3/27					INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81432833	C C	CCCTCCCC others(42): Show CCCTCCCCCCCCATCCCCAGGCCCACCCTTCCCCCCATCCCCAGGCCCAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04199.hp1 HG04115.hp1 HG04199.hp1	a0001 a0039 a0001 a0039	a0001c0012 a0039c0058 a0001c0012 a0039c0058	a0001c0012t0002 a0039c0058t0017 a0001c0012t0002 a0039c0058t0017	a0001c0012t0002g0112 a0039c0058t0017g0191 a0001c0012t0002g0112 a0039c0058t0017g0191	2	332	0.0060	49	c.359 others(66): Show c.359-5492_359-5444dupCCCAACCTCCCCCCCCATCCCCAGGCCC ACCCTTCCCCCCATCCCCAGG		BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	3/27					INFO_REALIGN_3_PRIME	chr17	TogoVar
BBS5_chr2_169474494_169511655	169505934	A A	ACCCCGTC others(42): Show ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp1 HG03225.hp2 NA20129.hp1 HG03209.hp1 HG03225.hp2 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0020 a0001c0004t0019g0020	3	398	0.0075	49	c.13 others(60): Show c.1377_*1425dupGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGG		BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	12/12				1426	INFO_REALIGN_3_PRIME	chr2	TogoVar
BBS5_chr2_169474494_169511655	169506118	A A	AGGAGGGA others(42): Show AGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp1 HG03225.hp2 NA20129.hp1 HG03209.hp1 HG03225.hp2 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0020 a0001c0004t0019g0020	3	398	0.0075	49	c.15 others(60): Show c.1579_*1580insCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCC		BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	12/12				1580	INFO_REALIGN_3_PRIME	chr2	TogoVar
BCAP29_chr7_107575246_107625478	107591657	C C	CACACACA others(42): Show CACACACACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0066 a0001c0001t0006g0066	1	398	0.0025	49	c.194 others(66): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACACACACACACACACACACA		BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7						chr7	TogoVar
BCAP29_chr7_107575246_107625478	107599052	A A	AATATATT others(42): Show AATATATTTATAAATATATAAATATATTAAAAATTTATATGTATATAAAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0363 a0001c0001t0005g0363	1	398	0.0025	49	c.481 others(66): Show c.481-1264_481-1216dupATTTATATGTATATAAATATATATTTAT AAATATATAAATATATTAAAA		BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107599162	A A	AGTATATA others(42): Show AGTATATAAATATATATTTATAAATATATAAATATATTAAAAATTTATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0327 a0001c0001t0007g0327	1	398	0.0025	49	c.481 others(66): Show c.481-1235_481-1234insGTATATAAATATATATTTATAAATATAT AAATATATTAAAAATTTATAT		BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	5/7						chr7	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AAAAAAAA others(42): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0055 a0004c0009t0001g0055	1	74	0.0135	49	c.202 others(68): Show c.2029+3574_2029+3575insAAAAAAAAATATATATATATATATAT ATATATATATATATATATATATA		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24837146	A A	AAGGAAGA others(42): Show AAGGAAGAAAGAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01069.hp2 HG01071.hp1 others(4): Show HG00140.hp2 HG01069.hp2 HG01071.hp1 HG01515.hp2 HG02572.hp1 HG02615.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0033 a0001c0001t0076 others(3): Show a0001c0001t0012 a0001c0001t0033 a0001c0001t0076 a0001c0001t0077 a0001c0001t0083 a0001c0001t0085	a0001c0001t0012g0055 a0001c0001t0033g0243 a0001c0001t0033g0272 others(4): Show a0001c0001t0012g0055 a0001c0001t0033g0243 a0001c0001t0033g0272 a0001c0001t0076g0031 a0001c0001t0077g0002 a0001c0001t0083g0058 a0001c0001t0085g0154	7	322	0.0217	49	c.818 others(64): Show c.818-551_818-550insCCCTCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTCTTTCTTCCT		BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	7/10						chr12	TogoVar
BCL11B_chr14_99164287_99277197	99210887	A A	AAGACACC others(42): Show AAGACACCTTCCCCTCTACCAACGATGACAATGATCCTAATAAGATCAAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	350	0.0029	49	c.640 others(68): Show c.640+20409_640+20457dupATTGATCTTATTAGGATCATTGTCAT CGTTGGTAGAGGGGAAGGTGTCT		BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3						chr14	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0098 a0005c0004t0003g0098	1	458	0.0022	49	c.-43 others(60): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATATATA		BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding					4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(42): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0097 a0002c0002t0003g0097	1	458	0.0022	49	c.-43 others(60): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATATA		BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding					4328		chr15	TogoVar

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