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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BICC1_chr10_58507872_58836435	58601140	T T	TAATATAT others(9): Show TAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01081.hp1 HG01109.hp2 others(13): Show HG00621.hp2 HG01081.hp1 HG01109.hp2 HG01255.hp1 HG02040.hp2 HG02109.hp1 HG02155.hp1 HG02451.hp1 HG02451.hp2 HG02886.hp2 HG02922.hp1 HG04204.hp1 NA18747.hp1 NA18906.hp2 NA18965.hp1 NA19060.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0008 others(2): Show a0001c0001 a0002c0002 a0002c0008 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0049 a0002c0002t0004 a0002c0002t0006 a0002c0002t0010 a0002c0008t0045 a0003c0004t0044 a0004c0005t0053	a0001c0001t0001g0068 a0001c0001t0001g0083 a0001c0001t0001g0089 others(13): Show a0001c0001t0001g0068 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0109 a0001c0001t0002g0008 a0001c0001t0006g0105 a0001c0001t0007g0071 a0001c0001t0007g0106 a0001c0001t0011g0070 a0001c0001t0049g0076 a0002c0002t0004g0093 a0002c0002t0006g0072 a0002c0002t0010g0074 a0002c0008t0045g0118 a0003c0004t0044g0112 a0004c0005t0053g0092	16	132	0.1212	16	c.191 others(35): Show c.191-19715_191-19714insAATATATATATATATA	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20			chr10	TogoVar
BICC1_chr10_58507872_58836435	58607317	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0003	a0006c0010t0003g0065 a0006c0010t0003g0065	1	132	0.0076	16	c.191 others(35): Show c.191-13526_191-13511dupTAAATAAATAAATAAA	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58718742	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0119 a0002c0002t0009g0119	1	132	0.0076	16	c.307 others(35): Show c.307+16608_307+16623dupTGTGTGTGTGTGTGTG	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58769400	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0050 a0002c0002t0008g0050	1	132	0.0076	16	c.308 others(35): Show c.308-15600_308-15599insATATATATATATATAT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58769402	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG02523.hp2 others(1): Show HG00621.hp1 HG00735.hp2 HG02523.hp2 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0002c0002t0004	a0001c0001t0001g0075 a0001c0001t0006g0085 a0001c0001t0007g0096 others(1): Show a0001c0001t0001g0075 a0001c0001t0006g0085 a0001c0001t0007g0096 a0002c0002t0004g0043	4	132	0.0303	16	c.308 others(35): Show c.308-15598_308-15597insATATATATATATATAT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32116494	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0104 a0001c0002t0005g0104	1	290	0.0035	16	c.213 others(33): Show c.213+8951_213+8952insATATATATATATATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32117695	T T	TACACAAA others(9): Show TACACAAATACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01261.hp1 HG01517.hp2 others(5): Show HG00639.hp1 HG01261.hp1 HG01517.hp2 HG02080.hp2 HG02486.hp2 NA18948.hp2 NA18975.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0010 a0001c0002t0004 others(4): Show a0001c0001t0004 a0001c0001t0010 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0021 a0001c0002t0027	a0001c0001t0004g0132 a0001c0001t0010g0103 a0001c0001t0010g0133 others(5): Show a0001c0001t0004g0132 a0001c0001t0010g0103 a0001c0001t0010g0133 a0001c0002t0004g0171 a0001c0002t0005g0124 a0001c0002t0008g0145 a0001c0002t0021g0169 a0001c0002t0027g0120	8	290	0.0276	16	c.213 others(35): Show c.213+10152_213+10153insCACAAATACACACACA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32117705	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0084 a0001c0001t0009g0084	1	290	0.0035	16	c.213 others(35): Show c.213+10162_213+10163insCACACACACACACACA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32117709	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02896.hp2 HG02486.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0040 a0001c0001t0017 a0001c0002t0040	a0001c0001t0017g0093 a0001c0002t0040g0091 a0001c0001t0017g0093 a0001c0002t0040g0091	2	290	0.0069	16	c.213 others(35): Show c.213+10166_213+10167insCACACACACACACACA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32117711	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0039 a0001c0001t0055g0039	1	290	0.0035	16	c.213 others(35): Show c.213+10177_213+10192dupCACACACACACACACA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32142453	C C	CCTATCTA others(9): Show CCTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0275 a0001c0001t0056g0275	1	290	0.0035	16	c.213 others(35): Show c.213+34930_213+34945dupCTATCTATCTATCTAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32142496	A A	ATCTATCT others(9): Show ATCTATCTATCTATTGG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0254 a0001c0001t0011g0254	1	290	0.0035	16	c.213 others(35): Show c.213+34960_213+34961insTCTATTGGTCTATCTA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32146809	T T	TCCTCCCT others(9): Show TCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02630.hp2 HG02109.hp2 HG02451.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0005t0009 a0001c0005t0012 a0001c0001t0006 a0001c0005t0009 a0001c0005t0012	a0001c0001t0006g0152 a0001c0005t0009g0270 a0001c0005t0012g0271 a0001c0001t0006g0152 a0001c0005t0009g0270 a0001c0005t0012g0271	3	290	0.0103	16	c.213 others(35): Show c.213+39277_213+39292dupCCCTCCCTCCCTCCCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32148142	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02738.hp1 HG03540.hp1 HG01346.hp1 HG02738.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0013 a0001c0001t0044 a0001c0003t0042 a0001c0001t0013 a0001c0001t0044 a0001c0003t0042	a0001c0001t0013g0279 a0001c0001t0044g0180 a0001c0003t0042g0274 a0001c0001t0013g0279 a0001c0001t0044g0180 a0001c0003t0042g0274	3	290	0.0103	16	c.213 others(35): Show c.213+40608_213+40609insAAAAAAAAAAAAAAAA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32166138	A A	ATTTATTT others(9): Show ATTTATTTATTTATTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0058 a0001c0006t0001g0058	1	290	0.0035	16	c.214 others(35): Show c.214-50098_214-50097insATTTTTTTATTTATTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32182278	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0271 a0001c0005t0012g0271	1	290	0.0035	16	c.214 others(35): Show c.214-33962_214-33947dupTTTTTTTTTTTTTTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32198323	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01081.hp1 HG01358.hp2 others(22): Show HG00609.hp2 HG01081.hp1 HG01358.hp2 HG01891.hp1 HG01981.hp1 HG02056.hp2 HG02129.hp2 HG02132.hp2 HG02300.hp2 HG02451.hp2 HG02602.hp1 HG02683.hp1 HG02738.hp1 HG03195.hp2 HG03491.hp1 HG04199.hp1 NA18954.hp2 NA18961.hp1 NA18969.hp2 NA19007.hp1 NA19060.hp2 NA19064.hp1 NA19084.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0028 a0001c0001t0030 a0001c0001t0044 a0001c0001t0056 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0005t0009	a0001c0001t0002g0199 a0001c0001t0003g0147 a0001c0001t0003g0203 others(22): Show a0001c0001t0002g0199 a0001c0001t0003g0147 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0229 a0001c0001t0004g0149 a0001c0001t0007g0005 a0001c0001t0008g0137 a0001c0001t0008g0144 a0001c0001t0010g0003 a0001c0001t0011g0057 a0001c0001t0016g0041 a0001c0001t0028g0006 a0001c0001t0030g0029 a0001c0001t0044g0180 a0001c0001t0056g0275 a0001c0002t0001g0179 a0001c0002t0001g0222 a0001c0002t0002g0063 a0001c0002t0002g0076 a0001c0002t0004g0002 a0001c0002t0004g0007 a0001c0002t0005g0008 a0001c0002t0007g0010 a0001c0005t0009g0270	25	290	0.0862	16	c.214 others(35): Show c.214-17922_214-17921insATATATATATATATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32225621	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03492.hp2 HG02896.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0017 a0001c0003t0013 a0001c0001t0017 a0001c0003t0013	a0001c0001t0017g0093 a0001c0003t0013g0277 a0001c0001t0017g0093 a0001c0003t0013g0277	2	290	0.0069	16	c.426 others(33): Show c.426+9167_426+9182dupTTTTTTTTTTTTTTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32243264	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02486.hp2 NA19083.hp2 HG00642.hp1 HG02486.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0001t0010 a0001c0003t0052 a0001c0001t0008 a0001c0001t0010 a0001c0003t0052	a0001c0001t0008g0140 a0001c0001t0010g0133 a0001c0003t0052g0286 a0001c0001t0008g0140 a0001c0001t0010g0133 a0001c0003t0052g0286	3	290	0.0103	16	c.426 others(35): Show c.426+26811_426+26826dupTTTTTTTTTTTTTTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346560	A A	ATATATAT others(9): Show ATATATATATACGTGTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0039 a0001c0001t0055g0039	1	290	0.0035	16	c.276 others(35): Show c.2764+7591_2764+7592insCGTGTGTATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346562	A A	ATATATAT others(9): Show ATATATATATACGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0223 a0001c0001t0059g0223	1	290	0.0035	16	c.276 others(35): Show c.2764+7593_2764+7594insCGTGTGTATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32384640	T T	TCTTCTTC others(9): Show TCTTCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01167.hp1 HG04115.hp1 others(1): Show HG00558.hp2 HG01167.hp1 HG04115.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 others(1): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0024	a0001c0001t0006g0164 a0001c0001t0007g0027 a0001c0001t0009g0070 others(1): Show a0001c0001t0006g0164 a0001c0001t0007g0027 a0001c0001t0009g0070 a0001c0001t0024g0260	4	290	0.0138	16	c.70 others(27): Show c.7013_*7014insCTTCTTCTTCTTCTTC	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		1008		chr12	TogoVar
BICD1_chr12_32101847_32388633	32387055	C C	CATCTTGG others(9): Show CATCTTGGGATATGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0025 a0001c0001t0015g0025	1	290	0.0035	16	c.94 others(27): Show c.9428_*9429insATCTTGGGATATGAAA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		3423		chr12	TogoVar
BICDL1_chr12_119984236_120099494	120013439	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02280.hp1 HG02683.hp2 others(2): Show HG01106.hp1 HG02280.hp1 HG02683.hp2 HG03195.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0137 a0001c0001t0002g0142 a0001c0001t0002g0150 others(2): Show a0001c0001t0002g0137 a0001c0001t0002g0142 a0001c0001t0002g0150 a0001c0001t0002g0207 a0001c0001t0011g0291	5	296	0.0169	16	c.645 others(35): Show c.645+14732_645+14747dupGTGTGTGTGTGTGTGT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	120033367	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01891.hp1 HG02622.hp1 others(6): Show HG01168.hp1 HG01891.hp1 HG02622.hp1 HG02717.hp2 HG02976.hp1 HG03453.hp2 HG03710.hp2 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0004 a0001c0002t0018 a0001c0006t0001 a0001c0002t0004 a0001c0002t0018 a0001c0006t0001	a0001c0002t0004g0229 a0001c0002t0004g0232 a0001c0002t0004g0237 others(6): Show a0001c0002t0004g0229 a0001c0002t0004g0232 a0001c0002t0004g0237 a0001c0002t0004g0240 a0001c0002t0004g0243 a0001c0002t0004g0244 a0001c0002t0004g0247 a0001c0002t0018g0239 a0001c0006t0001g0285	9	296	0.0304	16	c.646 others(35): Show c.646-28337_646-28322dupTTTTTTTTTTTTTTTT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL2_chr16_3022682_3041944	3034658	C C	CTCCTTCC others(9): Show CTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG01099.hp2 others(8): Show HG00280.hp1 HG00733.hp2 HG01099.hp2 HG01884.hp2 HG02109.hp1 HG02486.hp1 HG02559.hp2 HG03471.hp2 HG03831.hp1 HG04184.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0010 a0003c0003t0003 a0001c0001t0002 a0001c0001t0010 a0003c0003t0003	a0001c0001t0002g0020 a0001c0001t0002g0035 a0001c0001t0010g0111 others(3): Show a0001c0001t0002g0020 a0001c0001t0002g0035 a0001c0001t0010g0111 a0003c0003t0003g0023 a0003c0003t0003g0089 a0003c0003t0003g0112	11	390	0.0282	16	c.282 others(31): Show c.282+541_282+556dupAGGAAGGAAGGAAGGA	BICDL2	ENSG00000162069.16	transcript	ENST00000572449.6	protein_coding	2/9			chr16	TogoVar
BICRAL_chr6_42777052_42873556	42779223	A A	AACACACA others(9): Show AACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	270	0.0037	16	c.-29 others(27): Show c.-2980_-2979insACACACACACACACAC	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding		2828		chr6	TogoVar
BICRAL_chr6_42777052_42873556	42814499	G G	GTGTATAT others(9): Show GTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02976.hp2 HG00741.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0130 a0001c0001t0004g0254 a0001c0001t0004g0130 a0001c0001t0004g0254	2	270	0.0074	16	c.-6+ others(31): Show c.-6+4099_-6+4100insGTATATATATATATAT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42814499	G G	GTGTGTAT others(9): Show GTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG02451.hp1 HG00597.hp1 HG00673.hp2 HG02451.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0021 a0001c0001t0001 a0002c0003t0021	a0001c0001t0001g0050 a0001c0001t0001g0227 a0002c0003t0021g0036 a0001c0001t0001g0050 a0001c0001t0001g0227 a0002c0003t0021g0036	3	270	0.0111	16	c.-6+ others(31): Show c.-6+4099_-6+4100insGTGTATATATATATAT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42814499	G G	GTGTGTGT others(9): Show GTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03540.hp1 HG02647.hp2 HG03540.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0007 a0002c0003t0004 a0002c0003t0007	a0002c0003t0004g0040 a0002c0003t0007g0039 a0002c0003t0004g0040 a0002c0003t0007g0039	2	270	0.0074	16	c.-6+ others(31): Show c.-6+4099_-6+4100insGTGTGTATATATATAT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRA_chr19_47604134_47708277	47685741	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01255.hp1 HG02074.hp2 others(1): Show HG00544.hp2 HG01255.hp1 HG02074.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0051 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0051 a0001c0001t0001g0212	4	312	0.0128	16	c.228 others(35): Show c.2283+3620_2283+3635dupTGTGTGTGTGTGTGTG	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BICRA_chr19_47604134_47708277	47685781	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0302 a0001c0003t0006g0302	1	312	0.0032	16	c.228 others(35): Show c.2283+3635_2283+3636insTGTGTGTGTTTGTGTG	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BICRA_chr19_47604134_47708277	47685783	G G	GTGCGCGC others(9): Show GTGCGCGCAGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	312	0.0032	16	c.228 others(35): Show c.2283+3633_2283+3634insCGCGCAGCGCGCGCTG	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BICRA_chr19_47604134_47708277	47685786	T T	TGTGTGCG others(9): Show TGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19080.hp1 HG02572.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0231 a0001c0001t0001g0093 a0001c0001t0001g0231	2	312	0.0064	16	c.228 others(35): Show c.2283+3635_2283+3636insTGTGCGCGCGCGCGCG	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BICRA_chr19_47604134_47708277	47685786	T T	TGTGTGTG others(9): Show TGTGTGTGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03516.hp2 HG01071.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0034 a0001c0003t0004g0012 a0001c0001t0001g0034 a0001c0003t0004g0012	2	312	0.0064	16	c.228 others(35): Show c.2283+3635_2283+3636insTGTGTGCGCGCGCGCG	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BICRA_chr19_47604134_47708277	47685786	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19066.hp2 NA19087.hp1 HG03209.hp2 NA19066.hp2 NA19087.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0003 a0001c0008t0006 a0001c0003t0003 a0001c0008t0006	a0001c0003t0003g0003 a0001c0003t0003g0004 a0001c0008t0006g0304 a0001c0003t0003g0003 a0001c0003t0003g0004 a0001c0008t0006g0304	3	312	0.0096	16	c.228 others(35): Show c.2283+3635_2283+3636insTGTGTGTGTGTGCGCG	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BICRA_chr19_47604134_47708277	47685786	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0204 a0002c0010t0001g0204	1	312	0.0032	16	c.228 others(35): Show c.2283+3635_2283+3636insTGTGTGTGTGTGTGCG	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BICRA_chr19_47604134_47708277	47696838	T T	TGAAGTGA others(9): Show TGAAGTGATGGGTGGGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19043.hp2 NA18522.hp1 NA19043.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0016 a0001c0001 a0014c0016	a0001c0001t0001 a0014c0016t0001 a0001c0001t0001 a0014c0016t0001	a0001c0001t0001g0194 a0014c0016t0001g0208 a0001c0001t0001g0194 a0014c0016t0001g0208	2	312	0.0064	16	c.324 others(33): Show c.3248+334_3248+349dupTGGGTGGGGGAAGTGA	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BIN2_chr12_51276038_51329174	51313184	G G	GAGGAAGG others(9): Show GAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02723.hp1 others(11): Show HG01168.hp1 HG01169.hp1 HG02723.hp1 HG02895.hp2 HG02897.hp1 HG03579.hp1 HG03669.hp1 HG03710.hp2 NA18522.hp1 NA18992.hp2 NA19007.hp2 NA19054.hp1 NA19066.hp1 NA19070.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0223 a0001c0001t0001g0336 a0001c0001t0001g0337 others(11): Show a0001c0001t0001g0223 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0349 a0001c0001t0001g0358 a0001c0001t0001g0362 a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0004t0001g0288 a0001c0004t0001g0292 a0001c0004t0001g0313 a0002c0002t0001g0071 a0003c0003t0001g0296 a0003c0003t0001g0303	14	400	0.0350	16	c.162 others(31): Show c.162+623_162+638dupTCCTTCCTTCCTTCCT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	2/12			chr12	TogoVar
BIN2_chr12_51276038_51329174	51313215	G G	GAAGGAAG others(9): Show GAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0299 a0001c0004t0001g0299	1	400	0.0025	16	c.162 others(31): Show c.162+607_162+608insTCTTCCTTCCTTCCTT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	2/12			chr12	TogoVar
BIN2_chr12_51276038_51329174	51313216	A A	AAGGAAGG others(9): Show AAGGAAGGAAGGAAGGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00738.hp1 HG01175.hp1 others(3): Show HG00423.hp2 HG00738.hp1 HG01175.hp1 HG03490.hp2 HG03492.hp2 HG04115.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0237 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0237 a0001c0001t0001g0253 a0005c0008t0001g0257	6	400	0.0150	16	c.162 others(31): Show c.162+606_162+607insGCCTTCCTTCCTTCCT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	2/12			chr12	TogoVar
BIN2_chr12_51276038_51329174	51313220	A A	AAGGAAGG others(9): Show AAGGAAGGAAGGAAGGC	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18943.hp2 NA18999.hp2 HG02970.hp1 NA18943.hp2 NA18999.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0002c0011 a0008c0010 a0002c0002 a0002c0011 a0008c0010	a0002c0002t0001 a0002c0011t0001 a0008c0010t0001 a0002c0002t0001 a0002c0011t0001 a0008c0010t0001	a0002c0002t0001g0068 a0002c0011t0001g0073 a0008c0010t0001g0053 a0002c0002t0001g0068 a0002c0011t0001g0073 a0008c0010t0001g0053	3	400	0.0075	16	c.162 others(31): Show c.162+602_162+603insGCCTTCCTTCCTTCCT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	2/12			chr12	TogoVar
BIN2_chr12_51276038_51329174	51319955	C C	CTCTCTCC others(9): Show CTCTCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(217): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18957.hp2 NA18961.hp2 NA18963.hp1 NA18966.hp1 NA18968.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008	a0001c0001 a0001c0004 a0001c0019 others(10): Show a0001c0001 a0001c0004 a0001c0019 a0002c0002 a0002c0011 a0002c0012 a0003c0003 a0004c0005 a0004c0006 a0005c0008 a0006c0013 a0006c0014 a0008c0010	a0001c0001t0001 a0001c0001t0006 a0001c0004t0001 others(14): Show a0001c0001t0001 a0001c0001t0006 a0001c0004t0001 a0001c0019t0001 a0002c0002t0001 a0002c0002t0002 a0002c0011t0001 a0002c0012t0001 a0003c0003t0001 a0004c0005t0001 a0004c0005t0005 a0004c0006t0001 a0005c0008t0001 a0005c0008t0005 a0006c0013t0001 a0006c0014t0001 a0008c0010t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 others(206): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0079 a0001c0001t0001g0163 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0356 a0001c0001t0001g0358 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0367 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0376 a0001c0001t0006g0270 a0001c0001t0006g0361 a0001c0004t0001g0016 a0001c0004t0001g0260 a0001c0004t0001g0261 a0001c0004t0001g0288 a0001c0004t0001g0290 a0001c0004t0001g0291 a0001c0004t0001g0292 a0001c0004t0001g0299 a0001c0004t0001g0305 a0001c0004t0001g0306 a0001c0004t0001g0307 a0001c0004t0001g0310 a0001c0004t0001g0311 a0001c0004t0001g0312 a0001c0004t0001g0313 a0001c0004t0001g0315 a0001c0004t0001g0316 a0001c0004t0001g0319 a0001c0004t0001g0320 a0001c0004t0001g0327 a0001c0004t0001g0328 a0001c0004t0001g0332 a0001c0004t0001g0335 a0001c0004t0001g0341 a0001c0004t0001g0342 a0001c0004t0001g0347 a0001c0004t0001g0348 a0001c0004t0001g0359 a0001c0004t0001g0360 a0001c0019t0001g0269 a0002c0002t0001g0001 a0002c0002t0001g0021 a0002c0002t0001g0034 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0067 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0011t0001g0073 a0002c0012t0001g0069 a0003c0003t0001g0164 a0003c0003t0001g0234 a0003c0003t0001g0274 a0003c0003t0001g0295 a0003c0003t0001g0296 a0003c0003t0001g0297 a0003c0003t0001g0302 a0003c0003t0001g0303 a0003c0003t0001g0308 a0003c0003t0001g0309 a0003c0003t0001g0346 a0003c0003t0001g0355 a0003c0003t0001g0357 a0003c0003t0001g0368 a0003c0003t0001g0369 a0003c0003t0001g0370 a0003c0003t0001g0371 a0003c0003t0001g0377 a0004c0005t0001g0022 a0004c0005t0001g0024 a0004c0005t0001g0026 a0004c0005t0001g0029 a0004c0005t0001g0032 a0004c0005t0001g0033 a0004c0005t0001g0036 a0004c0005t0001g0037 a0004c0005t0001g0038 a0004c0005t0001g0039 a0004c0005t0001g0040 a0004c0005t0001g0041 a0004c0005t0001g0044 a0004c0005t0001g0046 a0004c0005t0001g0047 a0004c0005t0001g0048 a0004c0005t0001g0049 a0004c0005t0001g0050 a0004c0005t0001g0051 a0004c0005t0001g0052 a0004c0005t0001g0054 a0004c0005t0001g0078 a0004c0005t0005g0035 a0004c0006t0001g0005 a0004c0006t0001g0023 a0004c0006t0001g0025 a0004c0006t0001g0030 a0004c0006t0001g0042 a0004c0006t0001g0043 a0004c0006t0001g0045 a0005c0008t0001g0013 a0005c0008t0001g0257 a0005c0008t0005g0252 a0006c0013t0001g0249 a0006c0014t0001g0240 a0008c0010t0001g0053	220	400	0.5500	16	c.81+ others(31): Show c.81+4066_81+4067insAGGAAGGAAGGAGAGA	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	1/12			chr12	TogoVar
BIN2_chr12_51276038_51329174	51320934	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG00639.hp1 others(18): Show HG00423.hp2 HG00621.hp2 HG00639.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01261.hp2 HG01928.hp1 HG01993.hp2 HG02559.hp2 HG02723.hp2 HG02809.hp2 HG02970.hp2 HG03041.hp2 HG03239.hp2 HG03831.hp1 HG03927.hp1 NA18963.hp1 NA18977.hp1 NA19077.hp2 NA20300.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0004 a0004c0005 others(2): Show a0001c0001 a0001c0004 a0004c0005 a0005c0008 a0006c0013	a0001c0001t0001 a0001c0004t0001 a0004c0005t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0004c0005t0001 a0005c0008t0005 a0006c0013t0001	a0001c0001t0001g0018 a0001c0001t0001g0250 a0001c0001t0001g0251 others(18): Show a0001c0001t0001g0018 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0278 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0004t0001g0332 a0001c0004t0001g0335 a0004c0005t0001g0048 a0004c0005t0001g0049 a0005c0008t0005g0252 a0006c0013t0001g0249	21	400	0.0525	16	c.81+ others(31): Show c.81+3087_81+3088insGTGTGTGTGTGTGTGT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	1/12			chr12	TogoVar
BIN3_chr8_22615418_22674121	22649850	C C	CACACACA others(9): Show CACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG06807.hp2 NA19006.hp2 HG02040.hp1 HG06807.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0030 a0001c0001t0002g0051 a0001c0001t0017g0276 a0001c0001t0002g0030 a0001c0001t0002g0051 a0001c0001t0017g0276	3	386	0.0078	16	c.9-5 others(29): Show c.9-5048_9-5047insATGTGTGTGTGTGTGT	BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	1/8			chr8	TogoVar
BIRC2_chr11_102342214_102383670	102342340	G G	GTGTATTT others(9): Show GTGTATTTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	344	0.0029	16	c.-62 others(27): Show c.-6294_-6293insTGTATTTATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding		4873		chr11	TogoVar
BIRC2_chr11_102342214_102383670	102342340	G G	GTGTGTAT others(9): Show GTGTGTATTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0049 a0001c0004t0001g0049	1	344	0.0029	16	c.-62 others(27): Show c.-6294_-6293insTGTGTATTTATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding		4873		chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364139	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18522.hp1 NA18966.hp1 others(1): Show HG01433.hp1 NA18522.hp1 NA18966.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0161 a0001c0001t0001g0210 others(1): Show a0001c0001t0001g0086 a0001c0001t0001g0161 a0001c0001t0001g0210 a0001c0001t0001g0245	4	344	0.0116	16	c.112 others(33): Show c.1123+444_1123+459dupTATATATATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364174	T T	TATATATA others(9): Show TATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	344	0.0029	16	c.112 others(33): Show c.1123+459_1123+460insTATATATATACACACA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364174	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03491.hp2 HG02735.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0172 a0001c0001t0001g0077 a0001c0001t0001g0172	2	344	0.0058	16	c.112 others(33): Show c.1123+459_1123+460insTATATATATATATACA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar

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