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
BCLAF3_chrX_19907860_19996061	19995664	A A	AGAAAGGA others(9): Show AGAAAGGAGGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0191 a0001c0001t0026g0191	1	207	0.0048	16	c.-47 others(27): Show c.-4792_-4791insCTCCCTCCCTCCTTTC	BCLAF3	ENSG00000173681.17	transcript	ENST00000379682.9	protein_coding		4604		chrX	TogoVar
BCLAF3_chrX_19907860_19996061	19995676	G G	GGGAAGGA others(9): Show GGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0035 a0001c0001t0002g0022 a0001c0001t0002g0035	2	207	0.0097	16	c.-48 others(27): Show c.-4804_-4803insTTCCTTCCTTCCTTCC	BCLAF3	ENSG00000173681.17	transcript	ENST00000379682.9	protein_coding		4616		chrX	TogoVar
BCLAF3_chrX_19907860_19996061	19995688	G G	GGGAAGGA others(9): Show GGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG02615.hp1 HG02615.hp2 others(6): Show HG01981.hp1 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG04199.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 others(4): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0041	a0001c0001t0002g0036 a0001c0001t0008g0020 a0001c0001t0012g0011 others(6): Show a0001c0001t0002g0036 a0001c0001t0008g0020 a0001c0001t0012g0011 a0001c0001t0012g0013 a0001c0001t0012g0014 a0001c0001t0016g0074 a0001c0001t0020g0069 a0001c0001t0021g0084 a0001c0001t0041g0073	9	207	0.0435	16	c.-48 others(27): Show c.-4816_-4815insTTCCTTCCTTCCTTCC	BCLAF3	ENSG00000173681.17	transcript	ENST00000379682.9	protein_coding		4628		chrX	TogoVar
BCO1_chr16_81233689_81296142	81243454	A A	ATCATTCA others(9): Show ATCATTCATTCATTCAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01074.hp2 HG00280.hp2 HG01074.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0020 a0001c0005t0001g0021 a0001c0005t0001g0020 a0001c0005t0001g0021	2	402	0.0050	16	c.65- others(31): Show c.65-2007_65-1992dupCATTCATTCATTCATT	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
BCO1_chr16_81233689_81296142	81246850	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00741.hp2 others(23): Show HG00423.hp1 HG00438.hp2 HG00741.hp2 HG01515.hp1 HG01517.hp1 HG01952.hp1 HG02129.hp1 HG02132.hp1 HG02523.hp2 HG02698.hp1 HG02965.hp1 NA18944.hp2 NA18948.hp1 NA18956.hp1 NA18968.hp2 NA18975.hp1 NA18977.hp1 NA18983.hp1 NA18989.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19063.hp2 NA19070.hp1 NA19085.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0002 a0002c0004 a0005c0010 others(1): Show a0001c0002 a0002c0004 a0005c0010 a0008c0013	a0001c0002t0001 a0002c0004t0001 a0005c0010t0001 others(1): Show a0001c0002t0001 a0002c0004t0001 a0005c0010t0001 a0008c0013t0001	a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0042 others(23): Show a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0146 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0064 a0002c0004t0001g0065 a0002c0004t0001g0066 a0002c0004t0001g0108 a0005c0010t0001g0343 a0008c0013t0001g0029	26	402	0.0647	16	c.193 others(33): Show c.193+1250_193+1265dupAAAAAAAAAAAAAAAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
BCO1_chr16_81233689_81296142	81251872	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0009 a0002c0004t0001g0011 a0002c0004t0001g0009 a0002c0004t0001g0011	2	402	0.0050	16	c.193 others(33): Show c.193+6270_193+6271insGTGTGTGTGTGTGTGT	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
BCO1_chr16_81233689_81296142	81270692	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02015.hp2 others(4): Show HG01167.hp2 HG01169.hp2 HG02015.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG03654.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0002 a0002c0004 a0003c0003 others(1): Show a0001c0002 a0002c0004 a0003c0003 a0005c0010	a0001c0002t0001 a0002c0004t0001 a0003c0003t0001 others(1): Show a0001c0002t0001 a0002c0004t0001 a0003c0003t0001 a0005c0010t0001	a0001c0002t0001g0083 a0001c0002t0001g0107 a0002c0004t0001g0103 others(4): Show a0001c0002t0001g0083 a0001c0002t0001g0107 a0002c0004t0001g0103 a0002c0004t0001g0104 a0003c0003t0001g0313 a0003c0003t0001g0336 a0005c0010t0001g0343	7	402	0.0174	16	c.110 others(33): Show c.1101+289_1101+304dupTGTGTGTGTGTGTGTG	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
BCO2_chr11_112170512_112223946	112192943	T T	TTTTTTTT others(9): Show TTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0002 a0017c0021t0002	a0017c0021t0002g0120 a0017c0021t0002g0120	1	380	0.0026	16	c.294 others(31): Show c.294-531_294-530insTTTTTTTTTTTTTTTG	BCO2	ENSG00000197580.13	transcript	ENST00000357685.11	protein_coding	2/11			chr11	TogoVar
BCOR_chrX_40046251_40102958	40046552	A A	ATATATGT others(9): Show ATATATGTATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0194 a0001c0003t0001g0194	1	257	0.0039	16	c.55 others(27): Show c.5556_*5557insCATATATATACATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4698		chrX	TogoVar
BCR_chr22_23175509_23323037	23202721	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01358.hp2 HG02132.hp1 others(4): Show HG00558.hp2 HG01358.hp2 HG02132.hp1 HG02300.hp2 HG02615.hp2 NA18970.hp2 NA18979.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0003 others(2): Show a0001c0001 a0001c0004 a0002c0003 a0002c0027 a0003c0008	a0001c0001t0140 a0001c0001t0154 a0001c0004t0180 others(4): Show a0001c0001t0140 a0001c0001t0154 a0001c0004t0180 a0002c0003t0002 a0002c0003t0003 a0002c0027t0214 a0003c0008t0005	a0001c0001t0140g0213 a0001c0001t0154g0198 a0001c0004t0180g0084 others(4): Show a0001c0001t0140g0213 a0001c0001t0154g0198 a0001c0004t0180g0084 a0002c0003t0002g0263 a0002c0003t0003g0253 a0002c0027t0214g0027 a0003c0008t0005g0085	7	296	0.0237	16	c.127 others(37): Show c.1279+20494_1279+20509dupGTGTGTGTGTGTGTGT	BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr22	TogoVar
BDH1_chr3_197504783_197560968	197510597	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0209 a0001c0001t0209	a0001c0001t0209g0113 a0001c0001t0209g0113	1	319	0.0031	16	c.12 others(27): Show c.1297_*1298insACACACACACACACAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1297		chr3	TogoVar
BDH1_chr3_197504783_197560968	197510599	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG02523.hp1 NA18942.hp1 others(7): Show HG00423.hp2 HG02523.hp1 NA18942.hp1 NA18942.hp2 NA18966.hp1 NA19010.hp2 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0164 a0001c0001t0172 others(2): Show a0001c0001t0004 a0001c0001t0164 a0001c0001t0172 a0001c0001t0182 a0001c0001t0188	a0001c0001t0004g0022 a0001c0001t0004g0075 a0001c0001t0004g0078 others(7): Show a0001c0001t0004g0022 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0081 a0001c0001t0004g0202 a0001c0001t0164g0121 a0001c0001t0172g0201 a0001c0001t0182g0142 a0001c0001t0188g0236	10	319	0.0314	16	c.12 others(27): Show c.1280_*1295dupACACACACACACACAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1295		chr3	TogoVar
BDH2_chr4_103072592_103104834	103102328	C C	CATATATA others(9): Show CATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0108 a0001c0001t0006g0108	1	382	0.0026	16	c.-25 others(27): Show c.-2567_-2566insATATATATATATATAT	BDH2	ENSG00000164039.15	transcript	ENST00000296424.9	protein_coding		2495		chr4	TogoVar
BDKRB1_chr14_96251210_96269763	96267598	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0083 a0001c0003t0001g0083	1	444	0.0023	16	c.28 others(27): Show c.2854_*2855insTTTTTTTTTTTTTCTT	BDKRB1	ENSG00000100739.11	transcript	ENST00000216629.11	protein_coding		2836		chr14	TogoVar
BDKRB2_chr14_96199839_96249164	96216720	A A	AAGGAGGA others(9): Show AAGGAGGAGGAGGAAGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp2 others(24): Show HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp1 HG01346.hp1 HG01358.hp2 HG01981.hp1 HG02155.hp2 HG03491.hp2 HG03654.hp1 HG03831.hp1 HG04204.hp1 NA18939.hp2 NA18944.hp2 NA18961.hp1 NA18966.hp2 NA18971.hp1 NA19000.hp1 NA19009.hp2 NA19055.hp2 NA19060.hp1 NA19064.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0037 a0001c0001t0038 a0001c0002t0002	a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0135 others(24): Show a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0135 a0001c0001t0001g0150 a0001c0001t0001g0195 a0001c0001t0001g0232 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0004g0293 a0001c0001t0004g0353 a0001c0001t0005g0080 a0001c0001t0005g0289 a0001c0001t0009g0148 a0001c0001t0009g0285 a0001c0001t0014g0032 a0001c0001t0014g0131 a0001c0001t0019g0219 a0001c0001t0019g0220 a0001c0001t0020g0149 a0001c0001t0020g0251 a0001c0001t0037g0032 a0001c0001t0038g0031 a0001c0002t0002g0158 a0001c0002t0002g0292	27	436	0.0619	16	c.-40 others(35): Show c.-40+11791_-40+11806dupAGGAGGAGGAGGAGGA	BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
BDNF_chr11_27649893_27705455	27697164	C C	CAGAGAGA others(9): Show CAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0046 a0001c0001t0013g0046	2	360	0.0056	16	c.-22 others(33): Show c.-22+2984_-22+2999dupCTCTCTCTCTCTCTCT	BDNF	ENSG00000176697.20	transcript	ENST00000356660.9	protein_coding	1/1			chr11	TogoVar
BDP1_chr5_71450651_71572820	71506786	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03486.hp1 HG02027.hp1 HG03486.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0010 a0004c0004t0004 a0004c0004t0010	a0004c0004t0004g0311 a0004c0004t0010g0321 a0004c0004t0004g0311 a0004c0004t0010g0321	2	325	0.0062	16	c.237 others(35): Show c.2372+2058_2372+2073dupACACACACACACACAC	BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	16/38		INFO_REALIGN_3_PRIME	chr5	TogoVar
BEAN1_chr16_66422295_66487833	66461569	G G	GACACACA others(9): Show GACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	298	0.0034	16	c.26- others(31): Show c.26-8003_26-7988dupCACACACACACACACA	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474557	A A	AGAGGGAG others(9): Show AGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	298	0.0034	16	c.290 others(33): Show c.290-2992_290-2991insGGAGGGAGGGAGGGAG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474561	G G	GGAGGGAG others(9): Show GGAGGGAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	298	0.0034	16	c.290 others(33): Show c.290-2992_290-2991insGGAGGGAGAGAGGGAG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474602	G G	GAGGAAGG others(9): Show GAGGAAGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18968.hp2 NA18998.hp2 others(3): Show NA18950.hp1 NA18968.hp2 NA18998.hp2 NA19070.hp2 NA19079.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0142 a0001c0001t0003g0147 others(2): Show a0001c0001t0003g0007 a0001c0001t0003g0142 a0001c0001t0003g0147 a0001c0001t0003g0151 a0001c0001t0003g0205	6	298	0.0201	16	c.290 others(33): Show c.290-2956_290-2955insGAAGGAAGGGAGGAAG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474605	A A	AGAGGGAG others(9): Show AGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	298	0.0034	16	c.290 others(33): Show c.290-2943_290-2942insGAGGGAGGGAGGGAGG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474618	A A	AAGGAAGG others(9): Show AAGGAAGGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA19240.hp2 NA20300.hp2 HG03669.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0101 a0001c0001t0001g0186 a0001c0001t0002g0099 a0001c0001t0001g0101 a0001c0001t0001g0186 a0001c0001t0002g0099	3	298	0.0101	16	c.290 others(33): Show c.290-2939_290-2938insAAGGGAGGAAGGGAGG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEND3_chr6_107060182_107120515	107073201	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18948.hp2 HG02486.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0015 a0001c0001t0003 a0001c0003t0015	a0001c0001t0003g0146 a0001c0003t0015g0074 a0001c0001t0003g0146 a0001c0003t0015g0074	2	368	0.0054	16	c.241 others(33): Show c.241-2267_241-2252dupTATATATATATATATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BEND3_chr6_107060182_107120515	107073201	G G	GTGTATAT others(9): Show GTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0309 a0001c0001t0004g0309	1	368	0.0027	16	c.241 others(33): Show c.241-2252_241-2251insTATATATATATATACA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BEND3_chr6_107060182_107120515	107109442	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	368	0.0027	16	c.-12 others(33): Show c.-12+5632_-12+5647dupTTTTTTTTTTTTTTTT	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	1/3			chr6	TogoVar
BEND4_chr4_42105853_42157655	42123702	A A	AACAAAAA others(9): Show AACAAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG00738.hp1 others(49): Show HG00621.hp2 HG00735.hp1 HG00738.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01243.hp1 HG01256.hp2 HG01891.hp1 HG01891.hp2 HG02074.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18944.hp2 NA18950.hp2 NA18962.hp2 NA18995.hp2 NA19007.hp1 NA19043.hp1 NA19066.hp2 NA19076.hp2 NA19080.hp1 NA19084.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp2	a0001 a0007 a0008 others(1): Show a0001 a0007 a0008 a0009	a0001c0001 a0001c0003 a0001c0010 others(3): Show a0001c0001 a0001c0003 a0001c0010 a0007c0005 a0008c0011 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0024 a0001c0001t0029 a0001c0003t0011 a0001c0010t0028 a0007c0005t0009 a0008c0011t0002 a0009c0013t0002	a0001c0001t0001g0051 a0001c0001t0001g0128 a0001c0001t0002g0002 others(32): Show a0001c0001t0001g0051 a0001c0001t0001g0128 a0001c0001t0002g0002 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0050 a0001c0001t0002g0084 a0001c0001t0002g0094 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0003g0145 a0001c0001t0009g0010 a0001c0001t0009g0028 a0001c0001t0009g0164 a0001c0001t0011g0027 a0001c0001t0011g0142 a0001c0001t0011g0154 a0001c0001t0012g0007 a0001c0001t0024g0137 a0001c0001t0029g0144 a0001c0003t0011g0029 a0001c0010t0028g0123 a0007c0005t0009g0162 a0008c0011t0002g0136 a0009c0013t0002g0086	52	226	0.2301	16	c.114 others(35): Show c.1146+1880_1146+1881insGTTTTTGTTTTTTTGT	BEND4	ENSG00000188848.17	transcript	ENST00000502486.6	protein_coding	4/5			chr4	TogoVar
BEND7_chr10_13436088_13534014	13528412	C C	CCGCGGGC others(9): Show CCGCGGGCGGCCGAGGG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18997.hp1 NA18999.hp1 others(5): Show NA18952.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp2 NA19064.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0001g0040 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0004t0001g0041	8	300	0.0267	16	c.61+ others(27): Show c.61+45_61+60dupCCCTCGGCCGCCCGCG	BEND7	ENSG00000165626.19	transcript	ENST00000466271.3	protein_coding	1/8			chr10	TogoVar
BEST1_chr11_61945351_61969461	61951197	A A	ATTATTTA others(9): Show ATTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0066 a0001c0008t0001g0066	1	410	0.0024	16	c.-36 others(31): Show c.-36-563_-36-548dupATTTATTTATTTATTT	BEST1	ENSG00000167995.17	transcript	ENST00000378043.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
BEST1_chr11_61945351_61969461	61953886	A A	AAAACAAA others(9): Show AAAACAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03209.hp2 HG02486.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	2	410	0.0049	16	c.153 others(33): Show c.153-1205_153-1190dupCAAACAAACAAACAAA	BEST1	ENSG00000167995.17	transcript	ENST00000378043.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
BEST1_chr11_61945351_61969461	61957972	T T	TCAAACAA others(9): Show TCAAACAAACAAACAAA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	410	0.0024	16	c.715 others(31): Show c.715-161_715-146dupCAAACAAACAAACAAA	BEST1	ENSG00000167995.17	transcript	ENST00000378043.9	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
BEST3_chr12_69648609_69704303	69686771	C C	CAAAAAAA others(9): Show CAAAAAAACAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(71): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00609.hp1 HG00733.hp2 HG00738.hp1 HG01081.hp2 HG01099.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02735.hp1 HG02886.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp2 NA18940.hp1 NA18949.hp1 NA18953.hp2 NA18966.hp2 NA18983.hp2 NA18991.hp1 NA18998.hp1 NA19005.hp2 NA19007.hp2 NA19054.hp2 NA19062.hp2 NA19068.hp1 NA19082.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 a0002c0002t0002 a0002c0002t0003 a0003c0003t0001	a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0282 others(63): Show a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0300 a0001c0001t0002g0012 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0003g0207 a0001c0001t0013g0286 a0001c0001t0014g0297 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0253 a0002c0002t0003g0247 a0003c0003t0001g0037 a0003c0003t0001g0271 a0003c0003t0001g0283 a0003c0003t0001g0312	74	366	0.2022	16	c.481 others(33): Show c.481+6887_481+6902dupTTTTTTTTGTTTTTTT	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BEST3_chr12_69648609_69704303	69686771	C C	CAAAAAAA others(9): Show CAAAAAAACAAACAAAA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	366	0.0027	16	c.481 others(33): Show c.481+6902_481+6903insTTTTGTTTGTTTTTTT	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BEST3_chr12_69648609_69704303	69686779	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00733.hp1 others(23): Show HG00639.hp1 HG00642.hp1 HG00733.hp1 HG01069.hp1 HG01993.hp2 HG02257.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG06807.hp2 NA18979.hp1 NA18989.hp1 NA19007.hp1 NA19030.hp1 NA19060.hp1 NA19074.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0097 others(19): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0211 a0001c0001t0002g0165 a0001c0001t0002g0166	26	366	0.0710	16	c.481 others(33): Show c.481+6894_481+6895insTGTTTTTTTTTTTTTT	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BEX1_chrX_103057651_103069171	103060016	C C	CTCTATAT others(9): Show CTCTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	339	0.0030	16	c.28 others(27): Show c.2880_*2881insTATATATATATATAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2634		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060016	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	339	0.0030	16	c.28 others(27): Show c.2880_*2881insTAGAGAGAGAGAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2634		chrX	TogoVar
BEX5_chrX_102148712_102160977	102153606	C C	CATATATA others(9): Show CATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	324	0.0031	16	c.32 others(25): Show c.323_*324insATATATATATATATAT	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		105		chrX	TogoVar
BFSP1_chr20_17488905_17536379	17489135	T T	TGGGGAGT others(9): Show TGGGGAGTTAAGACCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18979.hp2 NA19082.hp2 NA18969.hp2 NA18979.hp2 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0002 a0001c0002t0001 a0002c0001t0002	a0001c0002t0001g0345 a0001c0002t0001g0355 a0002c0001t0002g0338 a0001c0002t0001g0345 a0001c0002t0001g0355 a0002c0001t0002g0338	3	396	0.0076	16	c.49 others(27): Show c.4938_*4939insCAGGTCTTAACTCCCC	BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding		4769		chr20	TogoVar
BFSP1_chr20_17488905_17536379	17529064	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG02258.hp1 others(6): Show HG01109.hp1 HG01167.hp1 HG02258.hp1 HG02572.hp2 HG02896.hp2 HG02897.hp2 HG03139.hp2 HG03209.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0004 a0001c0003t0001 a0001c0005t0004	a0001c0003t0001g0039 a0001c0003t0001g0300 a0001c0005t0004g0293 others(6): Show a0001c0003t0001g0039 a0001c0003t0001g0300 a0001c0005t0004g0293 a0001c0005t0004g0294 a0001c0005t0004g0295 a0001c0005t0004g0296 a0001c0005t0004g0297 a0001c0005t0004g0298 a0001c0005t0004g0299	9	396	0.0227	16	c.377 others(33): Show c.377+1873_377+1888dupACACACACACACACAC	BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding	1/7			chr20	TogoVar
BFSP1_chr20_17488905_17536379	17529090	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03041.hp2 HG02723.hp2 HG03041.hp2	a0005 a0012 a0005 a0012	a0005c0009 a0012c0018 a0005c0009 a0012c0018	a0005c0009t0001 a0012c0018t0001 a0005c0009t0001 a0012c0018t0001	a0005c0009t0001g0020 a0012c0018t0001g0021 a0005c0009t0001g0020 a0012c0018t0001g0021	2	396	0.0051	16	c.377 others(33): Show c.377+1862_377+1863insTCTCACACACACACAC	BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding	1/7			chr20	TogoVar
BFSP2_chr3_133395056_133480208	133424216	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG02572.hp2 others(5): Show HG01243.hp1 HG02451.hp2 HG02572.hp2 HG02717.hp1 HG02886.hp1 HG02896.hp2 HG02976.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0024 others(5): Show a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0129 a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0001g0268	8	276	0.0290	16	c.490 others(35): Show c.490-23100_490-23099insGTGTGTGTGTGTGTGT	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425225	G G	GGGGGGGG others(9): Show GGGGGGGGGGGGGGAGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	276	0.0036	16	c.490 others(35): Show c.490-22092_490-22091insGGGGGGGGGGGGGAGT	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6			chr3	TogoVar
BFSP2_chr3_133395056_133480208	133449982	A A	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01243.hp1 HG01943.hp1 others(14): Show HG00099.hp1 HG01243.hp1 HG01943.hp1 HG01952.hp1 HG02004.hp2 HG02258.hp1 HG02273.hp1 HG02683.hp1 HG03041.hp2 HG03098.hp2 HG03239.hp2 HG03654.hp1 NA18947.hp2 NA18963.hp2 NA18964.hp2 NA18983.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0002c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0073 others(14): Show a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0073 a0001c0001t0001g0093 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0155 a0001c0001t0001g0204 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0002t0001g0028 a0001c0002t0001g0037 a0001c0002t0001g0206 a0001c0002t0001g0215 a0001c0008t0001g0125 a0002c0003t0001g0154	17	276	0.0616	16	c.730 others(31): Show c.730-299_730-284dupAGGAAGGAAGGAAGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133450016	A A	AGGAAGGA others(9): Show AGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02055.hp2 HG02145.hp1 others(2): Show HG01123.hp2 HG02055.hp2 HG02145.hp1 HG02965.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0160 a0001c0001t0001g0162 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164	5	276	0.0181	16	c.730 others(31): Show c.730-284_730-283insAGGAAGGAAGGAGGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133466677	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01952.hp2 HG02280.hp2 others(7): Show HG01169.hp2 HG01952.hp2 HG02280.hp2 HG02602.hp1 HG04184.hp2 NA18943.hp1 NA18947.hp2 NA18969.hp1 NA19063.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0017 a0001c0001t0001g0257 a0001c0002t0001g0048 others(7): Show a0001c0001t0001g0017 a0001c0001t0001g0257 a0001c0002t0001g0048 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0186 a0001c0002t0001g0206 a0001c0002t0001g0230 a0001c0002t0001g0243 a0001c0002t0002g0214	10	276	0.0362	16	c.892 others(31): Show c.892-146_892-131dupAAAAAAAAAAAAAAAA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BGLAP_chr1_156237184_156248317	156237590	G G	GCATGAGC others(9): Show GCATGAGCTGCCACACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02572.hp1 HG02622.hp2 others(3): Show HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02717.hp2 HG03139.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0001 a0001c0001t0001g0001 a0002c0002t0001g0001	6	400	0.0150	16	c.-46 others(27): Show c.-4642_-4641insCATGAGCTGCCACACC	BGLAP	ENSG00000242252.2	transcript	ENST00000368272.5	protein_coding		4593		chr1	TogoVar
BHLHA9_chr17_1265444_1276815	1266337	C C	CCAGAAAG others(9): Show CCAGAAAGCCCTTAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	442	0.0023	16	c.-42 others(27): Show c.-4227_-4226insCAGAAAGCCCTTAGCA	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		4106		chr17	TogoVar
BHLHE40_chr3_4974437_4990323	4983829	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0051 a0001c0001t0038g0051	1	436	0.0023	16	c.14 others(25): Show c.148_*163dupGTGTGTGTGTGTGTGT	BHLHE40	ENSG00000134107.5	transcript	ENST00000256495.4	protein_coding	5/5	164	INFO_REALIGN_3_PRIME	chr3	TogoVar
BHMT2_chr5_79064767_79095069	79087014	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0185 a0001c0001t0005g0185	1	390	0.0026	16	c.101 others(35): Show c.1011-1466_1011-1451dupTATATATATATATATA	BHMT2	ENSG00000132840.10	transcript	ENST00000255192.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BHMT2_chr5_79064767_79095069	79087014	G G	GTGTGCAT others(9): Show GTGTGCATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0175	1	390	0.0026	16	c.101 others(35): Show c.1011-1478_1011-1477insGTGCATATATATATAT	BHMT2	ENSG00000132840.10	transcript	ENST00000255192.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar

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