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
BHLHE40_chr3_4974437_4990323	4979640	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0001 a0001c0001t0048g0001	1	436	0.0023	0	c.-79 others(3): Show c.-79A>G	BHLHE40	ENSG00000134107.5	transcript	ENST00000256495.4	protein_coding	1/5	79		chr3	TogoVar
BHLHE40_chr3_4974437_4990323	4979718	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00733.hp2 others(77): Show HG00099.hp2 HG00140.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01934.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04228.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp2 NA18949.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp2 NA18984.hp2 NA18985.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18997.hp2 NA18998.hp1 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19057.hp1 NA19058.hp2 NA19059.hp2 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19087.hp1 NA19091.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 others(11): Show a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0002t0002 a0001c0002t0005 a0001c0002t0014 a0001c0002t0021 a0001c0002t0042 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0003c0007t0002	a0001c0001t0017g0001 a0001c0001t0017g0002 a0001c0001t0017g0007 others(19): Show a0001c0001t0017g0001 a0001c0001t0017g0002 a0001c0001t0017g0007 a0001c0001t0018g0007 a0001c0001t0022g0007 a0001c0002t0002g0004 a0001c0002t0002g0007 a0001c0002t0002g0025 a0001c0002t0002g0040 a0001c0002t0002g0057 a0001c0002t0005g0005 a0001c0002t0005g0044 a0001c0002t0005g0045 a0001c0002t0014g0004 a0001c0002t0021g0004 a0001c0002t0042g0005 a0001c0002t0043g0005 a0001c0002t0044g0004 a0001c0002t0045g0004 a0001c0002t0046g0004 a0001c0002t0047g0037 a0003c0007t0002g0004	80	436	0.1835	0	c.-1C others(2): Show c.-1C>T	BHLHE40	ENSG00000134107.5	transcript	ENST00000256495.4	protein_coding	1/5	1		chr3	TogoVar
BHLHE41_chr12_26115030_26130037	26124790	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0045 a0001c0001t0024g0045	1	422	0.0024	0	c.-11 others(3): Show c.-11A>G	BHLHE41	ENSG00000123095.6	transcript	ENST00000242728.5	protein_coding	1/5	11		chr12	TogoVar
BHLHE41_chr12_26115030_26130037	26124918	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0047 a0001c0001t0026g0047	1	422	0.0024	0	c.-13 others(4): Show c.-139C>A	BHLHE41	ENSG00000123095.6	transcript	ENST00000242728.5	protein_coding	1/5	139		chr12	TogoVar
BHLHE41_chr12_26115030_26130037	26124923	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0046 a0001c0001t0025g0046	1	422	0.0024	0	c.-14 others(4): Show c.-144A>G	BHLHE41	ENSG00000123095.6	transcript	ENST00000242728.5	protein_coding	1/5	144		chr12	TogoVar
BHLHE41_chr12_26115030_26130037	26124935	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0047 a0001c0001t0026g0047	1	422	0.0024	0	c.-15 others(4): Show c.-156C>T	BHLHE41	ENSG00000123095.6	transcript	ENST00000242728.5	protein_coding	1/5	156		chr12	TogoVar
BHLHE41_chr12_26115030_26130037	26124936	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02083.hp1 NA18939.hp2 NA18960.hp2 others(2): Show HG02083.hp1 NA18939.hp2 NA18960.hp2 NA18967.hp1 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0009 a0002c0002t0007g0009	5	422	0.0119	0	c.-15 others(4): Show c.-157C>G	BHLHE41	ENSG00000123095.6	transcript	ENST00000242728.5	protein_coding	1/5	157		chr12	TogoVar
BHLHE41_chr12_26115030_26130037	26124943	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0024 a0001c0001t0016g0024	1	422	0.0024	0	c.-16 others(4): Show c.-164G>C	BHLHE41	ENSG00000123095.6	transcript	ENST00000242728.5	protein_coding	1/5	164		chr12	TogoVar
BHLHE41_chr12_26115030_26130037	26124960	ACACACAC others(3): Show ACACACACACG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01192.hp2 HG03927.hp1 HG01109.hp2 HG01192.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0027 a0001c0001t0013 a0001c0001t0027	a0001c0001t0013g0021 a0001c0001t0027g0048 a0001c0001t0013g0021 a0001c0001t0027g0048	3	422	0.0071	-10	c.-19 others(19): Show c.-191_-182delCGTGTGTGTG	BHLHE41	ENSG00000123095.6	transcript	ENST00000242728.5	protein_coding	1/5	182		chr12	TogoVar
BICC1_chr10_58507872_58836435	58512894	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0045 a0001c0001t0021g0045	1	132	0.0076	0	c.-25 others(4): Show c.-250G>A	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/21	250		chr10	TogoVar
BICC1_chr10_58507872_58836435	58512948	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00621.hp1 others(65): Show HG00323.hp1 HG00323.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00741.hp2 HG01106.hp2 HG01109.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG02027.hp2 HG02040.hp1 HG02132.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03540.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18961.hp1 NA18965.hp2 NA18972.hp1 NA18983.hp1 NA18986.hp1 NA19060.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0002c0002 a0002c0003 others(7): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0003c0007 a0004c0005 a0005c0009 a0006c0010 a0007c0011 a0008c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(30): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0008 a0002c0002t0017 a0002c0002t0036 a0002c0003t0004 a0002c0003t0015 a0002c0003t0016 a0002c0003t0023 a0002c0003t0026 a0002c0003t0032 a0003c0004t0014 a0003c0004t0025 a0003c0004t0035 a0003c0007t0033 a0004c0005t0004 a0004c0005t0030 a0004c0005t0034 a0005c0009t0031 a0006c0010t0003 a0007c0011t0005 a0008c0012t0017	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0008 others(65): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0034 a0001c0001t0002g0041 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0064 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0019 a0001c0001t0003g0024 a0001c0001t0003g0056 a0001c0001t0003g0059 a0001c0001t0003g0063 a0001c0001t0005g0007 a0001c0001t0005g0014 a0001c0001t0012g0004 a0001c0001t0012g0029 a0001c0001t0012g0058 a0001c0001t0021g0045 a0001c0001t0022g0001 a0001c0001t0024g0022 a0001c0001t0027g0042 a0001c0001t0028g0048 a0001c0001t0029g0032 a0002c0002t0003g0027 a0002c0002t0004g0015 a0002c0002t0004g0020 a0002c0002t0004g0031 a0002c0002t0004g0037 a0002c0002t0004g0038 a0002c0002t0004g0043 a0002c0002t0004g0093 a0002c0002t0005g0028 a0002c0002t0005g0030 a0002c0002t0005g0033 a0002c0002t0005g0039 a0002c0002t0008g0035 a0002c0002t0008g0036 a0002c0002t0008g0050 a0002c0002t0008g0051 a0002c0002t0008g0060 a0002c0002t0017g0026 a0002c0002t0036g0016 a0002c0003t0004g0052 a0002c0003t0015g0010 a0002c0003t0015g0018 a0002c0003t0016g0061 a0002c0003t0016g0062 a0002c0003t0023g0023 a0002c0003t0026g0047 a0002c0003t0032g0049 a0003c0004t0014g0066 a0003c0004t0014g0067 a0003c0004t0025g0021 a0003c0004t0035g0044 a0003c0007t0033g0046 a0004c0005t0004g0025 a0004c0005t0030g0009 a0004c0005t0034g0053 a0005c0009t0031g0012 a0006c0010t0003g0065 a0007c0011t0005g0040 a0008c0012t0017g0017	68	132	0.5152	0	c.-19 others(4): Show c.-196T>C	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/21	196		chr10	TogoVar
BICC1_chr10_58507872_58836435	58512980	CG CG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00639.hp1 HG03041.hp1 HG03098.hp2 HG00639.hp1 HG03041.hp1 HG03098.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0024 a0002c0003t0023 a0003c0004t0025 a0001c0001t0024 a0002c0003t0023 a0003c0004t0025	a0001c0001t0024g0022 a0002c0003t0023g0023 a0003c0004t0025g0021 a0001c0001t0024g0022 a0002c0003t0023g0023 a0003c0004t0025g0021	3	132	0.0227	-1	c.-15 others(5): Show c.-159delG	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/21	159	INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58512981	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0001 a0001c0001t0022g0001	1	132	0.0076	0	c.-16 others(4): Show c.-163G>A	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/21	163		chr10	TogoVar
BICC1_chr10_58507872_58836435	58512996	GCGGCGGC others(14): Show GCGGCGGCGTTGGCGGTGGCGT	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0052 a0002c0002t0052	a0002c0002t0052g0084 a0002c0002t0052g0084	1	132	0.0076	-21	c.-14 others(30): Show c.-140_-120delGTTGGCGGTGGCGTCGGCGGC	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/21	120	INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58513093	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00735.hp1 HG02109.hp2 HG02258.hp1 others(12): Show HG00735.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp2 HG03195.hp2 HG03471.hp2 HG03540.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0002c0006 a0003c0004	a0001c0001t0038 a0001c0001t0040 a0001c0001t0042 others(8): Show a0001c0001t0038 a0001c0001t0040 a0001c0001t0042 a0002c0002t0013 a0002c0002t0018 a0002c0002t0041 a0002c0003t0019 a0002c0003t0037 a0002c0003t0043 a0002c0006t0039 a0003c0004t0044	a0001c0001t0038g0113 a0001c0001t0040g0126 a0001c0001t0042g0130 others(12): Show a0001c0001t0038g0113 a0001c0001t0040g0126 a0001c0001t0042g0130 a0002c0002t0013g0127 a0002c0002t0013g0128 a0002c0002t0013g0129 a0002c0002t0018g0124 a0002c0002t0018g0131 a0002c0002t0041g0125 a0002c0003t0019g0115 a0002c0003t0019g0116 a0002c0003t0037g0111 a0002c0003t0043g0114 a0002c0006t0039g0110 a0003c0004t0044g0112	15	132	0.1136	0	c.-51 others(3): Show c.-51G>A	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/21	51		chr10	TogoVar
BICD1_chr12_32101847_32388633	32106888	G G	GGAGCGAG others(1): Show GGAGCGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00597.hp2 others(107): Show HG00408.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18969.hp2 NA18971.hp2 NA18975.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18988.hp2 NA18989.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19057.hp1 NA19060.hp1 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0010	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(21): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0021 a0001c0002t0026 a0001c0002t0027 a0001c0002t0029 a0001c0002t0031 a0001c0003t0033 a0001c0004t0014 a0002c0010t0008	a0001c0001t0004g0019 a0001c0001t0004g0032 a0001c0001t0004g0114 others(107): Show a0001c0001t0004g0019 a0001c0001t0004g0032 a0001c0001t0004g0114 a0001c0001t0004g0130 a0001c0001t0004g0132 a0001c0001t0004g0134 a0001c0001t0004g0136 a0001c0001t0004g0142 a0001c0001t0004g0149 a0001c0001t0004g0166 a0001c0001t0004g0170 a0001c0001t0004g0287 a0001c0001t0006g0021 a0001c0001t0006g0023 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0105 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0007g0005 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0107 a0001c0001t0007g0139 a0001c0001t0007g0146 a0001c0001t0007g0167 a0001c0001t0007g0250 a0001c0001t0007g0251 a0001c0001t0008g0108 a0001c0001t0008g0113 a0001c0001t0008g0119 a0001c0001t0008g0123 a0001c0001t0008g0125 a0001c0001t0008g0129 a0001c0001t0008g0137 a0001c0001t0008g0140 a0001c0001t0008g0144 a0001c0001t0010g0003 a0001c0001t0010g0014 a0001c0001t0010g0018 a0001c0001t0010g0103 a0001c0001t0010g0133 a0001c0001t0010g0143 a0001c0001t0010g0158 a0001c0001t0010g0161 a0001c0001t0014g0030 a0001c0001t0014g0031 a0001c0001t0015g0020 a0001c0001t0015g0025 a0001c0001t0015g0042 a0001c0001t0016g0037 a0001c0001t0016g0041 a0001c0001t0016g0154 a0001c0001t0028g0006 a0001c0001t0030g0029 a0001c0001t0032g0033 a0001c0001t0034g0128 a0001c0002t0004g0002 a0001c0002t0004g0007 a0001c0002t0004g0009 a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0004g0106 a0001c0002t0004g0117 a0001c0002t0004g0171 a0001c0002t0005g0001 a0001c0002t0005g0008 a0001c0002t0005g0011 a0001c0002t0005g0012 a0001c0002t0005g0104 a0001c0002t0005g0110 a0001c0002t0005g0111 a0001c0002t0005g0112 a0001c0002t0005g0116 a0001c0002t0005g0118 a0001c0002t0005g0124 a0001c0002t0005g0126 a0001c0002t0005g0127 a0001c0002t0005g0135 a0001c0002t0005g0138 a0001c0002t0005g0141 a0001c0002t0005g0151 a0001c0002t0005g0248 a0001c0002t0005g0252 a0001c0002t0005g0290 a0001c0002t0007g0010 a0001c0002t0007g0022 a0001c0002t0007g0028 a0001c0002t0007g0150 a0001c0002t0008g0115 a0001c0002t0008g0145 a0001c0002t0021g0169 a0001c0002t0021g0249 a0001c0002t0026g0013 a0001c0002t0027g0120 a0001c0002t0029g0109 a0001c0002t0031g0024 a0001c0003t0033g0122 a0001c0004t0014g0004 a0002c0010t0008g0256	110	290	0.3793	8	c.-43 others(17): Show c.-436_-429dupAGAGCGAG	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/10	428	INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32106913	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02486.hp1 HG02615.hp1 others(10): Show HG02257.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp2 HG02896.hp2 HG02922.hp1 HG03130.hp1 HG03225.hp1 HG03516.hp1 HG06807.hp1 NA18906.hp2 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 others(6): Show a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0002t0037 a0001c0002t0040	a0001c0001t0017g0092 a0001c0001t0017g0093 a0001c0001t0017g0094 others(10): Show a0001c0001t0017g0092 a0001c0001t0017g0093 a0001c0001t0017g0094 a0001c0001t0022g0101 a0001c0001t0022g0102 a0001c0001t0023g0096 a0001c0001t0023g0099 a0001c0001t0035g0097 a0001c0001t0036g0090 a0001c0001t0038g0098 a0001c0001t0039g0100 a0001c0002t0037g0095 a0001c0002t0040g0091	13	290	0.0448	0	c.-41 others(4): Show c.-419G>A	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/10	419		chr12	TogoVar
BICD1_chr12_32101847_32388633	32106953	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0062 a0001c0004t0062	a0001c0004t0062g0040 a0001c0004t0062g0040	1	290	0.0035	0	c.-37 others(4): Show c.-379C>T	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/10	379		chr12	TogoVar
BICD1_chr12_32101847_32388633	32107006	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0176 a0001c0002t0041g0176	1	290	0.0035	0	c.-32 others(4): Show c.-326G>C	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/10	326		chr12	TogoVar
BICD1_chr12_32101847_32388633	32107063	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0042 a0001c0003t0042	a0001c0003t0042g0274 a0001c0003t0042g0274	1	290	0.0035	0	c.-26 others(4): Show c.-269G>A	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/10	269		chr12	TogoVar
BICD1_chr12_32101847_32388633	32107220	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18947.hp1 NA18999.hp2 NA18947.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0065 a0001c0002t0025g0078 a0001c0002t0025g0065 a0001c0002t0025g0078	2	290	0.0069	0	c.-11 others(4): Show c.-112C>G	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/10	112		chr12	TogoVar
BICD1_chr12_32101847_32388633	32107231	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0013 a0001c0002t0026g0013	1	290	0.0035	0	c.-10 others(4): Show c.-101G>A	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/10	101		chr12	TogoVar
BICD1_chr12_32101847_32388633	32107291	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01496.hp1 HG02004.hp2 others(1): Show HG01081.hp2 HG01496.hp1 HG02004.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 others(1): Show a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061	a0001c0001t0058g0221 a0001c0001t0059g0223 a0001c0001t0060g0244 others(1): Show a0001c0001t0058g0221 a0001c0001t0059g0223 a0001c0001t0060g0244 a0001c0001t0061g0226	4	290	0.0138	0	c.-41 others(3): Show c.-41C>T	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/10	41		chr12	TogoVar
BICD2_chr9_92706363_92769833	92764801	A A	AGCC AGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(45): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG01243.hp2 HG02055.hp1 HG02165.hp1 HG02735.hp1 HG02738.hp1 HG03239.hp2 HG03710.hp2 HG03834.hp2 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18951.hp2 NA18956.hp2 NA18957.hp1 NA18962.hp2 NA18964.hp1 NA18968.hp1 NA18972.hp2 NA18974.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18992.hp1 NA18993.hp2 NA18995.hp2 NA19004.hp1 NA19005.hp2 NA19055.hp1 NA19056.hp2 NA19064.hp1 NA19076.hp2 NA19081.hp1 NA19086.hp1 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0009 a0004c0006 a0001c0001 a0001c0009 a0004c0006	a0001c0001t0004 a0001c0001t0012 a0001c0001t0033 others(4): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0009t0004 a0004c0006t0004	a0001c0001t0004g0001 a0001c0001t0004g0035 a0001c0001t0004g0267 others(32): Show a0001c0001t0004g0001 a0001c0001t0004g0035 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0012g0034 a0001c0001t0012g0279 a0001c0001t0012g0283 a0001c0001t0033g0282 a0001c0001t0034g0285 a0001c0001t0035g0266 a0001c0009t0004g0284 a0004c0006t0004g0288	48	360	0.1333	3	c.-60 others(10): Show c.-60_-58dupGGC	BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	1/7	58		chr9	TogoVar
BICD2_chr9_92706363_92769833	92764801	A A	AGCCGCC AGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00609.hp2 others(57): Show HG00408.hp2 HG00423.hp2 HG00609.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01123.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01943.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02080.hp2 HG02083.hp1 HG02273.hp2 HG02300.hp2 HG02723.hp2 HG03209.hp1 HG03492.hp2 HG04228.hp1 NA18747.hp1 NA18940.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18966.hp2 NA18967.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18988.hp1 NA18989.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19011.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19074.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20905.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0002 a0001c0001t0009 a0001c0001t0027 others(6): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0007c0011t0002	a0001c0001t0002g0005 a0001c0001t0002g0028 a0001c0001t0002g0029 others(48): Show a0001c0001t0002g0005 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0009g0222 a0001c0001t0009g0228 a0001c0001t0009g0230 a0001c0001t0009g0246 a0001c0001t0009g0249 a0001c0001t0027g0233 a0001c0001t0028g0237 a0001c0001t0029g0235 a0001c0001t0030g0231 a0001c0001t0031g0254 a0001c0001t0032g0264 a0007c0011t0002g0265	60	360	0.1667	6	c.-63 others(13): Show c.-63_-58dupGGCGGC	BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	1/7	58		chr9	TogoVar
BICD2_chr9_92706363_92769833	92764801	A A	AGCCGCCG others(2): Show AGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG01106.hp2 others(7): Show HG00438.hp2 HG00558.hp1 HG01106.hp2 HG02040.hp1 HG02976.hp1 NA18950.hp1 NA18955.hp2 NA19060.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0008 a0001c0001t0011 a0001c0001t0026 others(1): Show a0001c0001t0008 a0001c0001t0011 a0001c0001t0026 a0001c0008t0008	a0001c0001t0008g0216 a0001c0001t0008g0217 a0001c0001t0008g0218 others(7): Show a0001c0001t0008g0216 a0001c0001t0008g0217 a0001c0001t0008g0218 a0001c0001t0008g0219 a0001c0001t0011g0212 a0001c0001t0011g0213 a0001c0001t0011g0214 a0001c0001t0011g0221 a0001c0001t0026g0215 a0001c0008t0008g0220	10	360	0.0278	9	c.-66 others(16): Show c.-66_-58dupGGCGGCGGC	BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	1/7	58		chr9	TogoVar
BICD2_chr9_92706363_92769833	92764801	A A	AGCCGCCG others(8): Show AGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01261.hp2 others(1): Show HG01069.hp2 HG01071.hp2 HG01261.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0025 a0001c0001t0015 a0001c0001t0025	a0001c0001t0015g0027 a0001c0001t0015g0211 a0001c0001t0025g0210 a0001c0001t0015g0027 a0001c0001t0015g0211 a0001c0001t0025g0210	4	360	0.0111	15	c.-58 others(22): Show c.-58_-57insGGCGGCGGCGGCGGC	BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	1/7	58		chr9	TogoVar
BICD2_chr9_92706363_92769833	92764801	A A	AGCCGCCG others(11): Show AGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0209 a0001c0001t0024g0209	1	360	0.0028	18	c.-58 others(25): Show c.-58_-57insGGCGGCGGCGGCGGCGGC	BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	1/7	58		chr9	TogoVar
BICD2_chr9_92706363_92769833	92764813	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(122): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01943.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02976.hp1 HG03209.hp1 HG03239.hp2 HG03492.hp2 HG03579.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19011.hp2 NA19055.hp1 NA19056.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19074.hp1 NA19076.hp2 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0008 a0001c0009 others(2): Show a0001c0001 a0001c0008 a0001c0009 a0004c0006 a0007c0011	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(22): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0008t0008 a0001c0009t0004 a0004c0006t0004 a0007c0011t0002	a0001c0001t0002g0005 a0001c0001t0002g0028 a0001c0001t0002g0029 others(99): Show a0001c0001t0002g0005 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0004g0001 a0001c0001t0004g0035 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0008g0216 a0001c0001t0008g0217 a0001c0001t0008g0218 a0001c0001t0008g0219 a0001c0001t0009g0222 a0001c0001t0009g0228 a0001c0001t0009g0230 a0001c0001t0009g0246 a0001c0001t0009g0249 a0001c0001t0011g0212 a0001c0001t0011g0213 a0001c0001t0011g0214 a0001c0001t0011g0221 a0001c0001t0012g0034 a0001c0001t0012g0279 a0001c0001t0012g0283 a0001c0001t0015g0027 a0001c0001t0015g0211 a0001c0001t0024g0209 a0001c0001t0025g0210 a0001c0001t0026g0215 a0001c0001t0027g0233 a0001c0001t0028g0237 a0001c0001t0029g0235 a0001c0001t0030g0231 a0001c0001t0031g0254 a0001c0001t0032g0264 a0001c0001t0033g0282 a0001c0001t0034g0285 a0001c0001t0035g0266 a0001c0001t0036g0299 a0001c0001t0037g0298 a0001c0008t0008g0220 a0001c0009t0004g0284 a0004c0006t0004g0288 a0007c0011t0002g0265	125	360	0.3472	0	c.-69 others(3): Show c.-69A>G	BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	1/7	69		chr9	TogoVar
BICDL1_chr12_119984236_120099494	119989271	T T	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00642.hp2 HG01168.hp1 HG01175.hp2 others(16): Show HG00642.hp2 HG01168.hp1 HG01175.hp2 HG01891.hp1 HG02109.hp2 HG02145.hp2 HG02451.hp1 HG02486.hp1 HG02717.hp2 HG02886.hp1 HG02897.hp1 HG02976.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp2 HG03710.hp2 NA18522.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0018 a0001c0002t0004 a0001c0002t0018	a0001c0002t0004g0229 a0001c0002t0004g0230 a0001c0002t0004g0231 others(16): Show a0001c0002t0004g0229 a0001c0002t0004g0230 a0001c0002t0004g0231 a0001c0002t0004g0232 a0001c0002t0004g0233 a0001c0002t0004g0234 a0001c0002t0004g0235 a0001c0002t0004g0236 a0001c0002t0004g0237 a0001c0002t0004g0238 a0001c0002t0004g0240 a0001c0002t0004g0241 a0001c0002t0004g0242 a0001c0002t0004g0243 a0001c0002t0004g0244 a0001c0002t0004g0246 a0001c0002t0004g0247 a0001c0002t0004g0249 a0001c0002t0018g0239	19	296	0.0642	0	c.-59 others(4): Show c.-598T>A	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	1/10	598		chr12	TogoVar
BICDL1_chr12_119984236_120099494	119989292	TGCA TGCA	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00642.hp2 others(53): Show HG00597.hp1 HG00609.hp1 HG00642.hp2 HG00735.hp2 HG01081.hp2 HG01099.hp1 HG01168.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18942.hp2 NA18947.hp1 NA18953.hp2 NA18956.hp2 NA18966.hp2 NA18975.hp1 NA18984.hp2 NA18992.hp1 NA18992.hp2 NA19002.hp2 NA19005.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19063.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0017 others(4): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0017 a0001c0001t0029 a0001c0002t0003 a0001c0002t0004 a0001c0002t0018	a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0130 others(53): Show a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0260 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0006g0257 a0001c0001t0006g0258 a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0017g0259 a0001c0001t0017g0269 a0001c0001t0029g0284 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0245 a0001c0002t0003g0248 a0001c0002t0004g0229 a0001c0002t0004g0230 a0001c0002t0004g0231 a0001c0002t0004g0232 a0001c0002t0004g0233 a0001c0002t0004g0234 a0001c0002t0004g0235 a0001c0002t0004g0236 a0001c0002t0004g0237 a0001c0002t0004g0238 a0001c0002t0004g0240 a0001c0002t0004g0241 a0001c0002t0004g0242 a0001c0002t0004g0243 a0001c0002t0004g0244 a0001c0002t0004g0246 a0001c0002t0004g0247 a0001c0002t0004g0249 a0001c0002t0018g0239	56	296	0.1892	-3	c.-56 others(12): Show c.-565_-563delAGC	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	1/10	563	INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	119989462	G G	GGCAGCA GGCAGCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00544.hp1 others(181): Show HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18987.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19072.hp2 NA19077.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0002t0003 a0001c0002t0004 a0001c0002t0018 a0001c0003t0009 a0001c0005t0009 a0001c0006t0001 a0001c0007t0009 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(179): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0287 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0260 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0006g0257 a0001c0001t0006g0258 a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0009g0216 a0001c0001t0011g0288 a0001c0001t0011g0289 a0001c0001t0011g0290 a0001c0001t0011g0291 a0001c0001t0013g0053 a0001c0001t0013g0054 a0001c0001t0014g0059 a0001c0001t0014g0088 a0001c0001t0015g0213 a0001c0001t0015g0214 a0001c0001t0023g0037 a0001c0001t0024g0050 a0001c0001t0025g0292 a0001c0001t0026g0286 a0001c0001t0027g0027 a0001c0001t0028g0082 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0245 a0001c0002t0003g0248 a0001c0002t0004g0229 a0001c0002t0004g0230 a0001c0002t0004g0231 a0001c0002t0004g0232 a0001c0002t0004g0233 a0001c0002t0004g0234 a0001c0002t0004g0235 a0001c0002t0004g0236 a0001c0002t0004g0237 a0001c0002t0004g0238 a0001c0002t0004g0240 a0001c0002t0004g0241 a0001c0002t0004g0242 a0001c0002t0004g0243 a0001c0002t0004g0244 a0001c0002t0004g0246 a0001c0002t0004g0247 a0001c0002t0004g0249 a0001c0002t0018g0239 a0001c0003t0009g0218 a0001c0003t0009g0219 a0001c0003t0009g0221 a0001c0005t0009g0217 a0001c0005t0009g0220 a0001c0006t0001g0285 a0001c0007t0009g0215 a0001c0008t0001g0068	184	296	0.6216	6	c.-39 others(15): Show c.-395_-390dupAGCAGC	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	1/10	389	INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	119989462	G G	GGCAGCAG others(2): Show GGCAGCAGCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00738.hp2 others(72): Show HG00323.hp1 HG00558.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01168.hp2 HG01928.hp1 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp1 NA18939.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18962.hp2 NA18964.hp1 NA18971.hp2 NA18979.hp2 NA18985.hp2 NA18987.hp1 NA19003.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19065.hp2 NA19067.hp1 NA19077.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19091.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0004 a0001c0001 a0001c0009 a0002c0004	a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 others(5): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0009t0002 a0002c0004t0002	a0001c0001t0002g0004 a0001c0001t0002g0132 a0001c0001t0002g0133 others(71): Show a0001c0001t0002g0004 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0010g0005 a0001c0001t0010g0124 a0001c0001t0010g0134 a0001c0001t0010g0201 a0001c0001t0010g0211 a0001c0001t0012g0138 a0001c0001t0012g0178 a0001c0001t0020g0175 a0001c0001t0021g0256 a0001c0001t0022g0182 a0001c0009t0002g0148 a0002c0004t0002g0200 a0002c0004t0002g0223	75	296	0.2534	9	c.-39 others(18): Show c.-398_-390dupAGCAGCAGC	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	1/10	389	INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	119989462	G G	GGCAGCAG others(5): Show GGCAGCAGCAGCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00423.hp1 HG02015.hp1 HG02523.hp1 others(11): Show HG00423.hp1 HG02015.hp1 HG02523.hp1 NA18949.hp2 NA18956.hp1 NA18961.hp2 NA18978.hp2 NA18981.hp1 NA18984.hp1 NA18994.hp2 NA19058.hp1 NA19068.hp2 NA19072.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0019 a0001c0001t0005 a0001c0001t0019	a0001c0001t0005g0141 a0001c0001t0005g0170 a0001c0001t0005g0173 others(11): Show a0001c0001t0005g0141 a0001c0001t0005g0170 a0001c0001t0005g0173 a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0252 a0001c0001t0005g0253 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0019g0179	14	296	0.0473	12	c.-40 others(21): Show c.-401_-390dupAGCAGCAGCAGC	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	1/10	389	INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	119989474	A A	AGCAGCAG others(2): Show AGCAGCAGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02027.hp1 HG02135.hp2 HG02155.hp1 others(6): Show HG02027.hp1 HG02135.hp2 HG02155.hp1 NA18945.hp2 NA18950.hp1 NA18970.hp2 NA18973.hp2 NA18983.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0136 a0001c0001t0007g0146 others(5): Show a0001c0001t0007g0003 a0001c0001t0007g0136 a0001c0001t0007g0146 a0001c0001t0007g0154 a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0007g0165 a0001c0001t0007g0167	9	296	0.0304	9	c.-39 others(18): Show c.-390_-389insAGCGGCAGC	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	1/10	389	INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	119989474	A A	AGCAGCG AGCAGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00423.hp2 HG02717.hp1 NA18953.hp1 HG00423.hp2 HG02717.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0029 a0001c0001t0016 a0001c0001t0029	a0001c0001t0016g0023 a0001c0001t0016g0051 a0001c0001t0029g0284 a0001c0001t0016g0023 a0001c0001t0016g0051 a0001c0001t0029g0284	3	296	0.0101	6	c.-38 others(15): Show c.-385_-380dupGCGGCA	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	1/10	379	INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	119989494	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0037 a0001c0001t0023g0037	1	296	0.0034	0	c.-37 others(4): Show c.-375G>A	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	1/10	375		chr12	TogoVar
BICDL1_chr12_119984236_120099494	119989580	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02280.hp2 HG02572.hp2 HG02615.hp1 others(6): Show HG02280.hp2 HG02572.hp2 HG02615.hp1 HG02922.hp1 HG02965.hp1 HG03579.hp1 NA18522.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0009 a0001c0001t0015 a0001c0003t0009 others(2): Show a0001c0001t0009 a0001c0001t0015 a0001c0003t0009 a0001c0005t0009 a0001c0007t0009	a0001c0001t0009g0216 a0001c0001t0015g0213 a0001c0001t0015g0214 others(6): Show a0001c0001t0009g0216 a0001c0001t0015g0213 a0001c0001t0015g0214 a0001c0003t0009g0218 a0001c0003t0009g0219 a0001c0003t0009g0221 a0001c0005t0009g0217 a0001c0005t0009g0220 a0001c0007t0009g0215	9	296	0.0304	0	c.-28 others(4): Show c.-289C>T	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	1/10	289		chr12	TogoVar
BICDL1_chr12_119984236_120099494	119989685	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0050 a0001c0001t0024g0050	1	296	0.0034	0	c.-18 others(4): Show c.-184G>C	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	1/10	184		chr12	TogoVar
BICDL1_chr12_119984236_120099494	119989762	CGCGAGGC others(17): Show CGCGAGGCGAGGCGCGGGACGCGGG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02015.hp2 HG01891.hp1 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0024 a0001c0002t0018 a0001c0001t0024 a0001c0002t0018	a0001c0001t0024g0050 a0001c0002t0018g0239 a0001c0001t0024g0050 a0001c0002t0018g0239	2	296	0.0068	-24	c.-10 others(32): Show c.-103_-80delAGGCGAGGCGCGGGACGCGGGGCG	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	1/10	80	INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	119989783	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00597.hp1 HG00609.hp1 NA18612.hp1 others(9): Show HG00597.hp1 HG00609.hp1 NA18612.hp1 NA18942.hp2 NA18953.hp2 NA18966.hp2 NA18975.hp1 NA18984.hp2 NA18992.hp1 NA19002.hp2 NA19054.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0257 a0001c0001t0006g0258 a0001c0001t0006g0261 others(9): Show a0001c0001t0006g0257 a0001c0001t0006g0258 a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0270 a0001c0001t0006g0271	12	296	0.0405	0	c.-86 others(3): Show c.-86C>T	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	1/10	86		chr12	TogoVar
BICDL2_chr16_3022682_3041944	3036904	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0006 a0011c0010t0006	a0011c0010t0006g0046 a0011c0010t0006g0046	1	390	0.0026	0	c.-41 others(3): Show c.-41G>A	BICDL2	ENSG00000162069.16	transcript	ENST00000572449.6	protein_coding	1/10	1408		chr16	TogoVar
BICRAL_chr6_42777052_42873556	42782056	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02818.hp2 others(1): Show HG02109.hp2 HG02280.hp1 HG02818.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0027 a0001c0001t0028 a0001c0001t0012 a0001c0001t0027 a0001c0001t0028	a0001c0001t0012g0062 a0001c0001t0012g0063 a0001c0001t0027g0064 others(1): Show a0001c0001t0012g0062 a0001c0001t0012g0063 a0001c0001t0027g0064 a0001c0001t0028g0010	4	270	0.0148	0	c.-14 others(4): Show c.-147C>T	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	1/13	39967		chr6	TogoVar
BICRA_chr19_47604134_47708277	47670540	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0006 a0006	a0006c0027 a0006c0027	a0006c0027t0013 a0006c0027t0013	a0006c0027t0013g0203 a0006c0027t0013g0203	1	312	0.0032	0	c.-10 others(3): Show c.-10C>T	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	2/15	3035		chr19	TogoVar
BIN1_chr2_127043032_127112154	127107102	CCGGACGG others(8): Show CCGGACGGGCGAGCGA	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0018 a0001c0002t0006g0018	1	344	0.0029	-15	c.-17 others(24): Show c.-174_-160delTCGCTCGCCCGTCCG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/19	160		chr2	TogoVar
BIN1_chr2_127043032_127112154	127107116	GAGCCAGC others(5): Show GAGCCAGCGAGCT	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0316 a0001c0002t0010g0316	1	344	0.0029	-12	c.-18 others(21): Show c.-185_-174delAGCTCGCTGGCT	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/19	174		chr2	TogoVar
BIRC2_chr11_102342214_102383670	102349208	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0279 a0001c0001t0008g0279	1	344	0.0029	0	c.-64 others(4): Show c.-647T>C	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	2/9	647		chr11	TogoVar
BIRC2_chr11_102342214_102383670	102349209	TC TC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01255.hp1 others(12): Show HG01109.hp1 HG01109.hp2 HG01255.hp1 HG01884.hp1 HG02145.hp2 HG02280.hp1 HG02698.hp2 HG02970.hp1 HG02976.hp2 HG03209.hp1 HG03471.hp2 HG03927.hp1 HG06807.hp2 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0280 others(10): Show a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0008g0279	15	344	0.0436	-1	c.-64 others(5): Show c.-641delC	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	2/9	641	INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102349272	GTGTGAAC others(8): Show GTGTGAACTTAGCTTT	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18949.hp2 NA18982.hp2 NA18983.hp2 others(1): Show NA18949.hp2 NA18982.hp2 NA18983.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0013 a0001c0001t0004g0061 others(1): Show a0001c0001t0004g0003 a0001c0001t0004g0013 a0001c0001t0004g0061 a0001c0001t0004g0213	4	344	0.0116	-15	c.-58 others(24): Show c.-581_-567delGTGAACTTAGCTTTT	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	2/9	567	INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102349548	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01255.hp1 others(12): Show HG01109.hp1 HG01109.hp2 HG01255.hp1 HG01884.hp1 HG02145.hp2 HG02280.hp1 HG02698.hp2 HG02970.hp1 HG02976.hp2 HG03209.hp1 HG03471.hp2 HG03927.hp1 HG06807.hp2 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0280 others(10): Show a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0008g0279	15	344	0.0436	0	c.-30 others(4): Show c.-307T>C	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	2/9	307		chr11	TogoVar

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