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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BECN2_chr1_241952767_241964062	241957051	ATGTGTGT others(25): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	444	0.0023	-32	c.-71 others(41): Show c.-715_-684delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	BECN2	ENSG00000196289.7	transcript	ENST00000419583.2	protein_coding		715		chr1	TogoVar
BEND3_chr6_107060182_107120515	107073197	GTATGTAT others(25): Show GTATGTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01168.hp2 HG03098.hp1 others(1): Show HG01081.hp2 HG01168.hp2 HG03098.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0019 a0001c0001 a0001c0006 a0001c0019	a0001c0001t0002 a0001c0006t0027 a0001c0019t0053 a0001c0001t0002 a0001c0006t0027 a0001c0019t0053	a0001c0001t0002g0003 a0001c0006t0027g0182 a0001c0019t0053g0223 a0001c0001t0002g0003 a0001c0006t0027g0182 a0001c0019t0053g0223	4	368	0.0109	-32	c.241 others(49): Show c.241-2279_241-2248delTATATATATATATATATATATATATATA CATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BEND3_chr6_107060182_107120515	107073201	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp2 NA18942.hp2 HG00741.hp2 HG01071.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0040 a0001c0002t0014 a0001c0001t0003 a0001c0001t0040 a0001c0002t0014	a0001c0001t0003g0120 a0001c0001t0040g0339 a0001c0002t0014g0140 a0001c0001t0003g0120 a0001c0001t0040g0339 a0001c0002t0014g0140	3	368	0.0082	-32	c.241 others(49): Show c.241-2283_241-2252delTATATATATATATATATATATATATATA TATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BEST3_chr12_69648609_69704303	69700888	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG04204.hp1 HG03710.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0192 a0001c0001t0003g0193	2	366	0.0055	-32	c.-17 others(43): Show c.-1731_-1700delGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding		1586		chr12	TogoVar
BEST3_chr12_69648609_69704303	69700932	CTTCCTTC others(25): Show CTTCCTTCCTTCCTTCCTTCGTTCCTTCCTTCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	366	0.0027	-32	c.-17 others(43): Show c.-1775_-1744delCGAAGGAAGGAACGAAGGAAGGAAGGAAGGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding		1630		chr12	TogoVar
BFSP2_chr3_133395056_133480208	133446570	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03195.hp2 HG06807.hp1 HG02257.hp2 HG03195.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0002 a0001c0001t0001g0023	3	276	0.0109	-32	c.490 others(47): Show c.490-708_490-677delTATATATATATATATATATATATATATATA TA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BGN_chrX_153489980_153514546	153512617	ACACTCAC others(25): Show ACACTCACACACTCACACAATCACACTCACACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0074 a0001c0002t0074	a0001c0002t0074g0002 a0001c0002t0074g0002	1	321	0.0031	-32	c.41 others(43): Show c.4173_*4204delCACTCACACACTCACACAATCACACTCACACT	BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding		3072		chrX	TogoVar
BICC1_chr10_58507872_58836435	58732371	GTGTGTAT others(25): Show GTGTGTATGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00621.hp2 others(37): Show HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01261.hp1 HG01261.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01981.hp1 HG02040.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02257.hp2 HG02258.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG03239.hp1 HG03471.hp2 HG03540.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp1 NA18906.hp2 NA18961.hp1 NA18972.hp1 NA18983.hp2 NA18986.hp1 NA19060.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0002c0008 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0040 a0001c0001t0042 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0011 a0002c0002t0036 a0002c0002t0050 a0002c0002t0052 a0002c0003t0026 a0002c0003t0037 a0002c0003t0043 a0002c0008t0045 a0004c0005t0030	a0001c0001t0001g0068 a0001c0001t0001g0081 a0001c0001t0001g0083 others(37): Show a0001c0001t0001g0068 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0002g0003 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0064 a0001c0001t0003g0056 a0001c0001t0006g0085 a0001c0001t0006g0099 a0001c0001t0007g0071 a0001c0001t0007g0080 a0001c0001t0007g0095 a0001c0001t0012g0004 a0001c0001t0040g0126 a0001c0001t0042g0130 a0001c0001t0048g0086 a0001c0001t0049g0076 a0001c0001t0051g0098 a0002c0002t0004g0031 a0002c0002t0005g0030 a0002c0002t0005g0033 a0002c0002t0006g0072 a0002c0002t0006g0102 a0002c0002t0008g0036 a0002c0002t0008g0050 a0002c0002t0008g0051 a0002c0002t0011g0082 a0002c0002t0036g0016 a0002c0002t0050g0132 a0002c0002t0052g0084 a0002c0003t0026g0047 a0002c0003t0037g0111 a0002c0003t0043g0114 a0002c0008t0045g0118 a0004c0005t0030g0009	40	132	0.3030	-32	c.307 others(51): Show c.307+30230_307+30261delGTGTATGTATATATATATATATATAT ATATAT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58732373	GTGTATGT others(25): Show GTGTATGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	132	0.0076	-32	c.307 others(51): Show c.307+30232_307+30263delGTATGTATATATATATATATATATAT ATATAT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58732379	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG01517.hp2 others(1): Show HG00323.hp1 HG00735.hp2 HG01517.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012	a0001c0001t0001g0094 a0001c0001t0006g0079 a0001c0001t0007g0096 others(1): Show a0001c0001t0001g0094 a0001c0001t0006g0079 a0001c0001t0007g0096 a0001c0001t0012g0029	4	132	0.0303	-32	c.307 others(51): Show c.307+30267_307+30298delTATATATATATATATATATATATATA TATATA	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32116460	CTGTCTCT others(25): Show CTGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18981.hp2 NA19063.hp2 others(1): Show NA18977.hp2 NA18981.hp2 NA19063.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0012 a0001c0002t0001 a0001c0001t0003 a0001c0001t0012 a0001c0002t0001	a0001c0001t0003g0239 a0001c0001t0012g0211 a0001c0002t0001g0210 others(1): Show a0001c0001t0003g0239 a0001c0001t0012g0211 a0001c0002t0001g0210 a0001c0002t0001g0233	4	290	0.0138	-32	c.213 others(49): Show c.213+8918_213+8949delGTCTCTCTCTCTCTCTCTCTCTCTCTCT CTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICRAL_chr6_42777052_42873556	42845195	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	270	0.0037	-32	c.184 others(51): Show c.1840-6875_1840-6844delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BIN2_chr12_51276038_51329174	51295577	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	400	0.0025	-32	c.761 others(47): Show c.761+187_761+218delATATATATATATATATATATATATATATAT AT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12			chr12	TogoVar
BIRC2_chr11_102342214_102383670	102342357	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	344	0.0058	-32	c.-62 others(43): Show c.-6276_-6245delATATATATATATATATATATATATATATATAC	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding		4856		chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364150	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02145.hp2 others(4): Show HG01109.hp2 HG01884.hp1 HG02145.hp2 HG02280.hp1 HG02976.hp2 HG03209.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0285 a0001c0001t0002g0286 others(3): Show a0001c0001t0002g0026 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290	7	344	0.0204	-32	c.112 others(49): Show c.1123+436_1123+467delTATATATATATATATATATATATACACA CACA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342357	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0037 a0001c0001t0008g0037	2	384	0.0052	-32	c.52 others(43): Show c.5256_*5287delATATATATATATATATATATATATATATATAC	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2955		chr11	TogoVar
BIRC6_chr2_32352023_32623878	32369939	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0154 a0001c0013t0003g0154	1	274	0.0037	-32	c.326 others(49): Show c.326-7647_326-7616delAAAAAATATATATATATATATATATATA TATA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32369941	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02109.hp1 HG02145.hp2 others(5): Show HG01168.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02622.hp1 HG02895.hp1 HG03098.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0013 a0001c0003 a0001c0006 a0001c0013	a0001c0003t0003 a0001c0003t0009 a0001c0006t0003 others(1): Show a0001c0003t0003 a0001c0003t0009 a0001c0006t0003 a0001c0013t0003	a0001c0003t0003g0032 a0001c0003t0003g0033 a0001c0003t0003g0034 others(5): Show a0001c0003t0003g0032 a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0035 a0001c0003t0009g0031 a0001c0006t0003g0010 a0001c0013t0003g0036 a0001c0013t0003g0153	8	274	0.0292	-32	c.326 others(49): Show c.326-7645_326-7614delAAAATATATATATATATATATATATATA TATA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32369943	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA20905.hp2 HG01167.hp1 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0006 a0006c0020 a0001c0006 a0006c0020	a0001c0006t0003 a0006c0020t0003 a0001c0006t0003 a0006c0020t0003	a0001c0006t0003g0008 a0006c0020t0003g0012 a0001c0006t0003g0008 a0006c0020t0003g0012	2	274	0.0073	-32	c.326 others(49): Show c.326-7643_326-7612delAATATATATATATATATATATATATATA TATA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32397673	TACACACA others(25): Show TACACACACACATATATATGTACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03098.hp1 HG03139.hp2 others(2): Show HG02818.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp1 NA20129.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0025 a0001c0009t0001g0026 a0001c0009t0001g0027 others(2): Show a0001c0009t0001g0025 a0001c0009t0001g0026 a0001c0009t0001g0027 a0001c0009t0001g0028 a0001c0009t0001g0029	5	274	0.0183	-32	c.103 others(51): Show c.1034+2090_1034+2121delCATATATATGTACACACACACACACA CACACA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	6/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BLK_chr8_11489387_11569599	11560155	GTGGGTGG others(25): Show GTGGGTGGGTGGGTGGATGGATGGATGCATGGA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	308	0.0033	-32	c.103 others(51): Show c.1030-1143_1030-1112delGTGGGTGGGTGGATGGATGGATGCAT GGATGG	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLTP1_chr4_122147331_122367752	122327649	TTTTAAAA others(25): Show TTTTAAAAGATCCACAAAAAGCATCTACTAGCA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG02717.hp2 others(3): Show HG02055.hp1 HG02559.hp2 HG02717.hp2 HG02818.hp2 HG03486.hp1 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0001 a0001c0005t0002g0004 a0001c0005t0002g0005 others(2): Show a0001c0005t0002g0001 a0001c0005t0002g0004 a0001c0005t0002g0005 a0001c0005t0002g0006 a0001c0005t0002g0007	6	336	0.0179	-32	c.112 others(51): Show c.11260-421_11260-390delTTAAAAGATCCACAAAAAGCATCTAC TAGCAT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	67/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMAL1_chr11_13272790_13392266	13284110	GTATATAT others(25): Show GTATATATATGTGTGTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02572.hp1 others(2): Show HG02055.hp1 HG02145.hp2 HG02572.hp1 HG03041.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0004g0022 a0001c0001t0004g0023	5	314	0.0159	-32	c.-26 others(51): Show c.-263+6189_-263+6220delATATATATGTGTGTGTGTATATATAT ATATAT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13284144	GTGTATAT others(25): Show GTGTATATATATATATGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02071.hp1 NA19070.hp2 HG00099.hp1 HG02071.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275	3	314	0.0096	-32	c.-26 others(51): Show c.-263+6225_-263+6256delATATATATATATGTGTGTATATATAT ATATGT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13284166	ATATATAT others(25): Show ATATATATATATGTGTATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp2 HG02896.hp1 others(1): Show HG02717.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(1): Show a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215	4	314	0.0127	-32	c.-26 others(51): Show c.-263+6271_-263+6302delGTGTGTATATATATATGTGTATATAT ATATAT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMPR1A_chr10_86751619_86932969	86751734	CATATGTG others(25): Show CATATGTGTGCACACATACGCATATGCGCACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02895.hp1 HG02896.hp1 others(7): Show HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0006 a0001c0003t0014 a0001c0003t0032 others(2): Show a0001c0002t0006 a0001c0003t0014 a0001c0003t0032 a0001c0003t0055 a0001c0003t0057	a0001c0002t0006g0011 a0001c0003t0014g0005 a0001c0003t0014g0007 others(7): Show a0001c0002t0006g0011 a0001c0003t0014g0005 a0001c0003t0014g0007 a0001c0003t0014g0008 a0001c0003t0014g0010 a0001c0003t0014g0012 a0001c0003t0032g0004 a0001c0003t0032g0009 a0001c0003t0055g0006 a0001c0003t0057g0003	10	278	0.0360	-32	c.-54 others(43): Show c.-5452_-5421delATATGTGTGCACACATACGCATATGCGCACAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		4884		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86790182	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0018 a0001c0003t0031g0018	1	278	0.0036	-32	c.-26 others(53): Show c.-268+33265_-268+33296delAAAAAATATATATATATATATATA TATATATA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86790188	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0269 a0001c0002t0007g0269	1	278	0.0036	-32	c.-26 others(53): Show c.-268+33286_-268+33317delATATATATATATATATATATATAT ATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1B_chr4_94752955_95163448	95049419	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02559.hp2 others(5): Show HG02055.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG03130.hp1 HG03139.hp2 HG03471.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0055	a0001c0001t0005g0186 a0001c0001t0007g0025 a0001c0001t0007g0027 others(5): Show a0001c0001t0005g0186 a0001c0001t0007g0025 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0008g0060 a0001c0001t0009g0026 a0001c0001t0009g0050 a0001c0001t0055g0134	8	226	0.0354	-32	c.-18 others(51): Show c.-18+53305_-18+53336delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMX_chrX_15495807_15561519	15498545	TCTCTCTC others(25): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	216	0.0046	-32	c.-24 others(43): Show c.-2404_-2373delCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	BMX	ENSG00000102010.15	transcript	ENST00000348343.11	protein_coding		2261		chrX	TogoVar
BNC2_chr9_16404503_16875670	16498112	TATGTATA others(25): Show TATGTATATATTCTATCATATATATATTCTATC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0081 a0001c0001t0020g0081	1	176	0.0057	-32	c.669 others(51): Show c.669+54386_669+54417delGATAGAATATATATATGATAGAATAT ATACAT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16504270	ATAATACA others(25): Show ATAATACATGTATTCCAGAATGAATACATGTAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG01106.hp2 others(49): Show HG00558.hp1 HG00621.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01243.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG02056.hp1 HG02109.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA18943.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18971.hp2 NA18982.hp1 NA18986.hp1 NA18986.hp2 NA18991.hp2 NA19003.hp1 NA19005.hp2 NA19056.hp1 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0012	a0001c0001 a0001c0002 a0001c0007 others(8): Show a0001c0001 a0001c0002 a0001c0007 a0001c0011 a0001c0016 a0001c0020 a0002c0003 a0003c0008 a0003c0022 a0008c0010 a0012c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0034 a0001c0001t0035 a0001c0001t0039 a0001c0001t0040 a0001c0001t0049 a0001c0001t0062 a0001c0001t0063 a0001c0001t0078 a0001c0001t0079 a0001c0001t0081 a0001c0001t0089 a0001c0001t0090 a0001c0001t0110 a0001c0002t0027 a0001c0002t0067 a0001c0002t0094 a0001c0007t0052 a0001c0011t0082 a0001c0016t0092 a0001c0020t0107 a0002c0003t0001 a0002c0003t0070 a0003c0008t0100 a0003c0022t0027 a0008c0010t0001 a0012c0014t0033	a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0125 others(49): Show a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0125 a0001c0001t0001g0141 a0001c0001t0002g0112 a0001c0001t0002g0145 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0003g0016 a0001c0001t0003g0046 a0001c0001t0003g0063 a0001c0001t0003g0082 a0001c0001t0003g0103 a0001c0001t0008g0015 a0001c0001t0009g0036 a0001c0001t0009g0062 a0001c0001t0009g0117 a0001c0001t0010g0146 a0001c0001t0011g0106 a0001c0001t0014g0041 a0001c0001t0015g0052 a0001c0001t0018g0095 a0001c0001t0019g0017 a0001c0001t0021g0134 a0001c0001t0023g0084 a0001c0001t0034g0115 a0001c0001t0035g0067 a0001c0001t0039g0026 a0001c0001t0040g0165 a0001c0001t0049g0154 a0001c0001t0062g0020 a0001c0001t0063g0077 a0001c0001t0078g0011 a0001c0001t0079g0128 a0001c0001t0081g0083 a0001c0001t0089g0030 a0001c0001t0090g0162 a0001c0001t0110g0008 a0001c0002t0027g0013 a0001c0002t0067g0138 a0001c0002t0094g0168 a0001c0007t0052g0176 a0001c0011t0082g0035 a0001c0016t0092g0086 a0001c0020t0107g0118 a0002c0003t0001g0006 a0002c0003t0001g0090 a0002c0003t0070g0163 a0003c0008t0100g0072 a0003c0022t0027g0073 a0008c0010t0001g0124 a0012c0014t0033g0078	52	176	0.2955	-32	c.669 others(51): Show c.669+48228_669+48259delATACATGTATTCATTCTGGAATACAT GTATTA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNIP1_chr5_173139531_173169387	173148083	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	352	0.0028	-32	c.177 others(49): Show c.177+1148_177+1179delATATATATATATATATATATATATATAT ATAT	BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
BNIP5_chr6_36310761_36341888	36324575	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01099.hp2 HG01346.hp1 others(8): Show HG00621.hp1 HG01099.hp2 HG01346.hp1 HG02027.hp2 HG02129.hp1 HG02630.hp2 HG02738.hp1 HG03490.hp2 NA18955.hp2 NA19066.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0004c0004t0001 a0001c0001t0001 a0001c0001t0002 a0004c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0113 a0001c0001t0001g0164 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0113 a0001c0001t0001g0164 a0001c0001t0001g0288 a0001c0001t0002g0053 a0001c0001t0002g0108 a0004c0004t0001g0158 a0004c0004t0001g0260	11	424	0.0259	-32	c.116 others(49): Show c.1169-417_1169-386delTATATATATATATATATATATATATATA TATA	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11			chr6	TogoVar
BOLL_chr2_197721890_197790319	197784391	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01433.hp1 others(3): Show HG01167.hp1 HG01169.hp1 HG01433.hp1 HG01891.hp2 HG03654.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0242 a0001c0001t0005g0033 a0001c0001t0005g0259 others(2): Show a0001c0001t0001g0242 a0001c0001t0005g0033 a0001c0001t0005g0259 a0001c0001t0005g0260 a0001c0001t0005g0261	6	328	0.0183	-32	c.-16 others(47): Show c.-16+633_-16+664delATATATATATATATATATATATATATATAT AT	BOLL	ENSG00000152430.19	transcript	ENST00000392296.9	protein_coding	1/10			chr2	TogoVar
BRAF_chr7_140714337_140929929	140915529	GGTTCAAG others(25): Show GGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAA	G G	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0172 a0001c0001t0004g0172	1	190	0.0053	-32	c.138 others(49): Show c.138+9005_138+9036delTTGGGAGGCTGAGGCAGGAGAATTGCTT GAAC	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	1/19			chr7	TogoVar
BRAF_chr7_140725665_140929929	140915529	GGTTCAAG others(25): Show GGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAA	G G	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0177 a0001c0001t0009g0177	1	196	0.0051	-32	c.138 others(49): Show c.138+9005_138+9036delTTGGGAGGCTGAGGCAGGAGAATTGCTT GAAC	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	1/17			chr7	TogoVar
BRDT_chr1_91944401_92019421	91962144	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0002 a0013c0017t0002	a0013c0017t0002g0128 a0013c0017t0002g0128	1	318	0.0031	-32	c.-37 others(47): Show c.-37-557_-37-526delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
BRINP3_chr1_190092658_190482864	190203750	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02970.hp1 NA19030.hp1 HG02895.hp1 HG02970.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0194	3	240	0.0125	-32	c.961 others(51): Show c.961+22300_961+22331delATATATATATATATATATATATATAT ATATAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	6/7			chr1	TogoVar
BRSK1_chr19_55278997_55317562	55300677	AAAAATAA others(25): Show AAAAATAAAAAAATTAGCCGGGCATAGTGGCAT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0134 a0001c0001t0008g0134	1	338	0.0030	-32	c.679 others(47): Show c.679-833_679-802delAAATAAAAAAATTAGCCGGGCATAGTGGCA TA	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK1_chr19_55278997_55317562	55308774	CCGTGGGT others(25): Show CCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03704.hp1 NA19054.hp2 others(1): Show HG02559.hp1 HG03704.hp1 NA19054.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0024 a0001c0001t0002 a0001c0001t0003 a0001c0001t0024	a0001c0001t0002g0061 a0001c0001t0002g0180 a0001c0001t0003g0092 others(1): Show a0001c0001t0002g0061 a0001c0001t0002g0180 a0001c0001t0003g0092 a0001c0001t0024g0114	4	338	0.0118	-32	c.217 others(48): Show c.2179+78_2179+109delGCGTGGGTGGCGGGGGGCGTGGGTGGCGG GGG	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK2_chr11_1384934_1467689	1423667	AGCCTCCC others(25): Show AGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG01515.hp2 others(13): Show HG00609.hp1 HG00639.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02895.hp1 HG02897.hp2 HG03834.hp2 NA18906.hp2 NA18994.hp1 NA19043.hp2 NA19067.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0031 a0001c0001t0032 a0001c0001t0063 a0001c0001t0070 a0001c0003t0004 a0001c0006t0027 a0002c0002t0002 a0002c0002t0015 a0002c0002t0058 a0002c0007t0010	a0001c0001t0001g0034 a0001c0001t0001g0150 a0001c0001t0003g0263 others(13): Show a0001c0001t0001g0034 a0001c0001t0001g0150 a0001c0001t0003g0263 a0001c0001t0011g0307 a0001c0001t0031g0012 a0001c0001t0032g0195 a0001c0001t0032g0209 a0001c0001t0063g0253 a0001c0001t0070g0210 a0001c0003t0004g0290 a0001c0006t0027g0142 a0002c0002t0002g0323 a0002c0002t0015g0028 a0002c0002t0058g0325 a0002c0007t0010g0244 a0002c0007t0010g0245	16	360	0.0444	-32	c.92- others(49): Show c.92-12231_92-12200delGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1441290	GCCCCTCA others(25): Show GCCCCTCAAGTGCACCATCCCCCCCATTAACTA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0250 a0002c0002t0005g0250	1	360	0.0028	-32	c.413 others(47): Show c.413+391_413+422delACTACCCCTCAAGTGCACCATCCCCCCCAT TA	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1441473	CCCCCATT others(25): Show CCCCCATTAGCTACCCCTCAAGTGCACCGTCCA	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0213 a0001c0001t0074g0213	1	360	0.0028	-32	c.413 others(47): Show c.413+609_413+640delACCCCATTAGCTACCCCTCAAGTGCACCGT CC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1441765	CCCCCATT others(25): Show CCCCCATTAGCTACCCCTCAAGTGCACCGTCCA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01993.hp2 HG02630.hp1 others(6): Show HG01069.hp1 HG01993.hp2 HG02630.hp1 HG02683.hp2 HG02735.hp1 HG03130.hp2 HG06807.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0075 a0001c0003t0004	a0001c0001t0001g0010 a0001c0001t0001g0343 a0001c0001t0004g0175 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0343 a0001c0001t0004g0175 a0001c0001t0004g0180 a0001c0001t0004g0185 a0001c0001t0006g0229 a0001c0001t0006g0248 a0001c0001t0075g0202 a0001c0003t0004g0290	9	360	0.0250	-32	c.414 others(47): Show c.414-661_414-630delACCCCATTAGCTACCCCTCAAGTGCACCGT CC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1441929	TCATTAGC others(25): Show TCATTAGCTGCCCCTCAAGTGCACCGTCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0340 a0001c0001t0047g0340	1	360	0.0028	-32	c.414 others(47): Show c.414-552_414-521delGCCCCTCAAGTGCACCGTCCCCCCCATTAG CT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRWD1_chr21_39180482_39318632	39217019	ATATATAT others(25): Show ATATATATATATATATAAATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG01255.hp2 others(15): Show HG00544.hp1 HG00597.hp1 HG01255.hp2 HG01346.hp2 HG01975.hp1 HG02071.hp1 HG02109.hp2 HG02559.hp2 HG03098.hp1 HG03516.hp2 NA18956.hp2 NA18963.hp2 NA18990.hp1 NA18992.hp1 NA19005.hp1 NA19074.hp1 NA19077.hp1 NA19086.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0022 a0001c0001 a0009c0022	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0009c0022t0004	a0001c0001t0002g0024 a0001c0001t0002g0036 a0001c0001t0002g0037 others(15): Show a0001c0001t0002g0024 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0004g0262 a0001c0001t0004g0273 a0001c0001t0013g0175 a0001c0001t0013g0177 a0009c0022t0004g0256	18	338	0.0533	-32	c.365 others(51): Show c.3659+1101_3659+1132delAATATATATATATATTTATATATATA TATATA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
BTBD19_chr1_44803523_44820585	44816621	ATATTATA others(25): Show ATATTATATATACACATAGATGTGTGTGTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0068 a0001c0001t0081g0068	1	436	0.0023	-32	c.28 others(43): Show c.2850_*2881delTATTATATATACACATAGATGTGTGTGTATAT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		1037		chr1	TogoVar
BTBD19_chr1_44803523_44820585	44816708	ATATTATA others(25): Show ATATTATATATACACATAGATGTGTGTGTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG02615.hp2 HG02630.hp2 others(3): Show HG01943.hp2 HG02615.hp2 HG02630.hp2 HG03041.hp2 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0023 a0001c0001t0012 a0001c0001t0023	a0001c0001t0012g0006 a0001c0001t0023g0006 a0001c0001t0012g0006 a0001c0001t0023g0006	6	436	0.0138	-32	c.29 others(43): Show c.2937_*2968delTATTATATATACACATAGATGTGTGTGTATAT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		1124		chr1	TogoVar
BTBD7_chr14_93232550_93338036	93300742	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18944.hp1 HG01168.hp2 NA18944.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0056 a0001c0001t0002 a0003c0003t0056	a0001c0001t0002g0295 a0003c0003t0056g0134 a0001c0001t0002g0295 a0003c0003t0056g0134	2	375	0.0053	-32	c.-10 others(51): Show c.-106-4617_-106-4586delTACACACACACACACACACACACACA CACACA	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10			chr14	TogoVar

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