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
BOC_chr3_113206557_113292459	113236290	A A	ATATATAT others(19): Show ATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0292 a0001c0008t0004g0292	1	386	0.0026	26	c.-81 others(45): Show c.-81-13414_-81-13413insCCCATGGGTATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOK_chr2_241553745_241579131	241558052	G G	GAAACAGA others(19): Show GAAACAGACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00735.hp2 others(73): Show HG00438.hp2 HG00597.hp1 HG00735.hp2 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG02559.hp2 HG02622.hp2 HG02683.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02970.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18906.hp1 NA18942.hp1 NA18950.hp1 NA18960.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18980.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA19002.hp2 NA19003.hp1 NA19009.hp2 NA19043.hp1 NA19074.hp1 NA19086.hp2 NA19090.hp1 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0002t0001	a0001c0001t0001g0027 a0001c0001t0001g0150 a0001c0001t0001g0161 others(60): Show a0001c0001t0001g0027 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0121 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0003g0007 a0001c0001t0003g0011 a0001c0001t0003g0173 a0001c0001t0003g0177 a0001c0001t0004g0010 a0001c0001t0004g0014 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0089 a0001c0001t0004g0093 a0001c0001t0004g0095 a0001c0001t0004g0098 a0001c0001t0004g0101 a0001c0001t0005g0068 a0001c0001t0005g0272 a0001c0001t0005g0278 a0001c0001t0008g0017 a0001c0001t0008g0171 a0001c0001t0008g0172 a0001c0001t0009g0069 a0001c0001t0009g0071 a0001c0001t0010g0113 a0001c0001t0013g0087 a0001c0001t0013g0092 a0001c0001t0013g0099 a0001c0001t0015g0016 a0001c0001t0015g0157 a0001c0001t0017g0009 a0001c0001t0018g0081 a0001c0001t0018g0097 a0001c0001t0019g0141 a0001c0001t0019g0143 a0001c0001t0026g0102 a0001c0001t0027g0023 a0001c0001t0029g0149 a0001c0001t0031g0058 a0001c0001t0047g0088 a0001c0001t0048g0091 a0001c0001t0050g0083 a0001c0002t0001g0063 a0001c0002t0001g0064	76	434	0.1751	26	c.-97 others(35): Show c.-971_-970insAAACAGACACACACACACACACACAC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding		692		chr2	TogoVar
BORA_chr13_72722923_72761196	72724752	A A	ATATATAT others(19): Show ATATATATATATATATATGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG02258.hp1 NA19084.hp1 HG00323.hp1 HG02258.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0002 a0001c0001t0002 a0002c0004t0002	a0001c0001t0002g0030 a0001c0001t0002g0066 a0002c0004t0002g0019 a0001c0001t0002g0030 a0001c0001t0002g0066 a0002c0004t0002g0019	3	388	0.0077	26	c.-32 others(37): Show c.-3271_-3270insTATATATATATATATATGTGTGTGTG	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding		3170		chr13	TogoVar
BORCS8_chr19_19171906_19197152	19174385	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	428	0.0023	26	c.31 others(37): Show c.3117_*3118insAAAAAAAAAAAAAAAAAAAAAAAAAA	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding		2520		chr19	TogoVar
BORCS8_chr19_19171906_19197152	19177684	G G	GAAAAGAA others(19): Show GAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0174	1	428	0.0023	26	c.43 others(41): Show c.43-225_*43-224insTCTTTTCTTTTCTTTTCTTTTCTTTT	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BORCS8_chr19_19171906_19197152	19177692	G G	GAGAAAAG others(19): Show GAGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	428	0.0023	26	c.43 others(41): Show c.43-233_*43-232insTTTTCTTTTCTTTTCTTTTCTTTTCT	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPIFA3_chr20_33212352_33232806	33213100	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0058 a0012c0017t0001g0058	1	416	0.0024	26	c.-44 others(37): Show c.-4437_-4436insTGTGTGTATATATATATATATATATA	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding		4251		chr20	TogoVar
BPIFB1_chr20_33278214_33314871	33279882	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	388	0.0026	26	c.-34 others(37): Show c.-3414_-3413insTCTCTCTCTCTCTCTCTCTCTCTCTC	BPIFB1	ENSG00000125999.11	transcript	ENST00000253354.2	protein_coding		3331		chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33087753	C C	CACACACA others(19): Show CACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	344	0.0029	26	c.927 others(43): Show c.927-1212_927-1211insCACACACACACACACACACACACAAA	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33108423	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03486.hp1 NA19010.hp2 HG01884.hp1 HG03486.hp1 NA19010.hp2	a0011 a0015 a0011 a0015	a0011c0012 a0015c0018 a0011c0012 a0015c0018	a0011c0012t0001 a0015c0018t0001 a0011c0012t0001 a0015c0018t0001	a0011c0012t0001g0053 a0011c0012t0001g0125 a0015c0018t0001g0081 a0011c0012t0001g0053 a0011c0012t0001g0125 a0015c0018t0001g0081	3	344	0.0087	26	c.182 others(43): Show c.1821+617_1821+618insTATATATATATATATATATATATATA	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFC_chr22_32408845_32469446	32424648	T T	TCCTCCTC others(19): Show TCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02647.hp1 HG01099.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0019t0001 a0001c0001t0001 a0001c0019t0001	a0001c0001t0001g0127 a0001c0019t0001g0130 a0001c0001t0001g0127 a0001c0019t0001g0130	2	422	0.0047	26	c.121 others(45): Show c.1218-5245_1218-5244insGGAGGAGGAGGAGGAGGAGGAGGAGG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424651	T T	TCCTCCTC others(19): Show TCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA20129.hp1 HG02886.hp2 NA20129.hp1	a0006 a0013 a0006 a0013	a0006c0006 a0013c0020 a0006c0006 a0013c0020	a0006c0006t0001 a0013c0020t0002 a0006c0006t0001 a0013c0020t0002	a0006c0006t0001g0398 a0013c0020t0002g0087 a0006c0006t0001g0398 a0013c0020t0002g0087	2	422	0.0047	26	c.121 others(45): Show c.1218-5248_1218-5247insGGAGGAGGAGGAGGAGGAGGAGGAGG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424660	T T	TCCTCCTC others(19): Show TCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0417 a0003c0003t0001g0417	1	422	0.0024	26	c.121 others(45): Show c.1218-5257_1218-5256insGGAGGAGGAGGAGGAGGAGGAGGAGG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPI_chr20_38299156_38342505	38339638	G G	GAAAAAAA others(19): Show GAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0003 a0006c0005t0003	a0006c0005t0003g0283 a0006c0005t0003g0283	1	426	0.0024	26	c.24 others(37): Show c.2454_*2455insAAAAAAAAAAAAAAAAAAAAAAAAAA	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding		2134		chr20	TogoVar
BPNT2_chr8_56952931_56998867	56956044	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 NA18747.hp1 HG03017.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0229 a0001c0001t0002g0003 a0001c0001t0002g0229	2	356	0.0056	26	c.77 others(37): Show c.7748_*7749insATATATATATATATATATATATATAT	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding		1886		chr8	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18965.hp2 NA18973.hp2 others(1): Show HG00735.hp1 NA18965.hp2 NA18973.hp2 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0190 a0002c0002t0002g0199 a0002c0002t0002g0213 others(1): Show a0002c0002t0002g0190 a0002c0002t0002g0199 a0002c0002t0002g0213 a0002c0002t0002g0273	4	274	0.0146	26	c.530 others(45): Show c.5304-1564_5304-1563insTTTTTTTTTTTTTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRAP_chr12_111637146_111690956	111667698	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	364	0.0028	26	c.748 others(43): Show c.748-1912_748-1911insTTTTTTTTTTTTTTTTTTTTTTTTTT	BRAP	ENSG00000089234.16	transcript	ENST00000419234.9	protein_coding	5/11			chr12	TogoVar
BRAT1_chr7_2532810_2560524	2552081	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02135.hp1 HG01496.hp2 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0032 a0001c0001 a0001c0032	a0001c0001t0001 a0001c0032t0001 a0001c0001t0001 a0001c0032t0001	a0001c0001t0001g0207 a0001c0032t0001g0206 a0001c0001t0001g0207 a0001c0032t0001g0206	2	424	0.0047	26	c.127 others(43): Show c.127+2198_127+2223dupATATATATATATATATATATATATAT	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0111 a0001c0015t0001g0111	1	424	0.0024	26	c.127 others(43): Show c.127+2198_127+2199insAAAATATATATATATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG04199.hp1 HG01516.hp2 HG01517.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135	3	424	0.0071	26	c.127 others(43): Show c.127+2198_127+2199insAAAAAATATATATATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRCA1_chr17_43039295_43130364	43100559	T T	TATATATA others(19): Show TATATATATATATAACATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0002 a0011c0020t0002	a0011c0020t0002g0152 a0011c0020t0002g0152	1	276	0.0036	26	c.442 others(41): Show c.442-680_442-679insTATATATATATGTTATATATATATAT	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRCA1_chr17_43039295_43130364	43100609	C C	CATATATA others(19): Show CATATATATAACATATATATATGTTAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0032 a0002c0002t0003g0032	1	276	0.0036	26	c.442 others(41): Show c.442-755_442-730dupATAACATATATATATGTTATATATAT	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRI3BP_chr12_124988645_125036231	124997214	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG03688.hp1 others(1): Show HG00735.hp2 HG01106.hp1 HG03688.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0021 a0001c0001t0025	a0001c0001t0001g0122 a0001c0001t0007g0120 a0001c0001t0021g0121 others(1): Show a0001c0001t0001g0122 a0001c0001t0007g0120 a0001c0001t0021g0121 a0001c0001t0025g0119	4	410	0.0098	26	c.213 others(43): Show c.213+3230_213+3231insTTTTTTTTTTTTTTTTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3_chr7_98276686_98296545	98280243	A A	AAGATATA others(19): Show AAGATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 NA18951.hp2 HG01070.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0011 a0001c0001t0003g0029 a0001c0001t0001g0011 a0001c0001t0003g0029	2	414	0.0048	26	c.-15 others(37): Show c.-1553_-1552insAGATATATATATATATATATATATAT	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		1442		chr7	TogoVar
BRINP1_chr9_119161629_119374435	119367217	G G	GTGTGTGA others(19): Show GTGTGTGATTGATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp2 HG02809.hp1 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0189 a0001c0004t0001g0188 a0001c0003t0001g0189 a0001c0004t0001g0188	2	236	0.0085	26	c.-51 others(43): Show c.-51+1838_-51+1839insATATATATATATATATCAATCACACA	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	1/7			chr9	TogoVar
BRINP1_chr9_119161629_119374435	119367221	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG03942.hp1 others(1): Show HG00639.hp2 HG00735.hp2 HG03942.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0146 a0001c0002t0001g0145 a0001c0003t0001g0181 others(1): Show a0001c0001t0001g0146 a0001c0002t0001g0145 a0001c0003t0001g0181 a0001c0003t0001g0182	4	236	0.0170	26	c.-51 others(43): Show c.-51+1834_-51+1835insATATATATATATATATATATATATAT	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	1/7			chr9	TogoVar
BRINP3_chr1_190092658_190482864	190277087	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02040.hp1 HG02738.hp1 others(2): Show HG00408.hp2 HG02040.hp1 HG02738.hp1 NA18964.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0056 a0001c0001t0001g0097 a0001c0001t0001g0101 others(2): Show a0001c0001t0001g0056 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0173 a0001c0001t0002g0225	5	240	0.0208	26	c.427 others(43): Show c.427+4447_427+4472dupTATATATATATATATATATATATATA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	3/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190277087	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	240	0.0042	26	c.427 others(43): Show c.427+4472_427+4473insTATATATATATATATATATATATAAA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	3/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190277113	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18939.hp2 HG02523.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0114 a0001c0001t0001g0015 a0001c0001t0001g0114	2	240	0.0083	26	c.427 others(43): Show c.427+4446_427+4447insAATATATATATATATATATATATATA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	3/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190277113	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	240	0.0042	26	c.427 others(43): Show c.427+4446_427+4447insAATAAATATATATATATATATATATA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	3/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190301178	T T	TATATATG others(19): Show TATATATGTATATATATACATATATAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00639.hp2 others(55): Show HG00544.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG01081.hp2 HG01243.hp2 HG01258.hp1 HG01346.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG02040.hp1 HG02083.hp1 HG02135.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02735.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG04115.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18939.hp2 NA18948.hp1 NA18961.hp2 NA18978.hp2 NA18979.hp2 NA18988.hp1 NA18995.hp1 NA18998.hp1 NA19004.hp2 NA19030.hp1 NA19062.hp2 NA19068.hp2 NA19083.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(55): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0064 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0003g0007	58	240	0.2417	26	c.237 others(45): Show c.237-19429_237-19428insGTATATATGTATATATATACATATAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190396713	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03927.hp2 HG04204.hp2 others(2): Show HG02145.hp2 HG03927.hp2 HG04204.hp2 NA19068.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0150 a0001c0001t0002g0215 a0001c0001t0002g0216 others(2): Show a0001c0001t0001g0150 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0228 a0001c0001t0005g0003	5	240	0.0208	26	c.236 others(45): Show c.236+57916_236+57941dupATATATATATATATATATATATATAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRIP1_chr17_61674139_61868528	61787311	T T	TTATATAC others(19): Show TTATATACTATATAAAATATATAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00735.hp1 others(30): Show HG00140.hp2 HG00642.hp1 HG00735.hp1 HG01109.hp1 HG01175.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG02080.hp1 HG02165.hp2 HG02602.hp1 HG02738.hp1 HG03017.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG04199.hp1 NA18747.hp2 NA18943.hp1 NA18950.hp2 NA18952.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18982.hp1 NA19007.hp1 NA19060.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19085.hp1 NA19091.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0011	a0001c0001 a0002c0003 a0003c0006 others(2): Show a0001c0001 a0002c0003 a0003c0006 a0004c0004 a0011c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0002c0003t0005 a0002c0003t0013 a0002c0003t0014 a0002c0003t0019 a0002c0003t0039 a0002c0003t0043 a0003c0006t0005 a0004c0004t0005 a0004c0004t0014 a0011c0007t0002	a0001c0001t0001g0053 a0001c0001t0002g0052 a0001c0001t0002g0062 others(30): Show a0001c0001t0001g0053 a0001c0001t0002g0052 a0001c0001t0002g0062 a0001c0001t0011g0037 a0002c0003t0005g0038 a0002c0003t0005g0043 a0002c0003t0005g0044 a0002c0003t0005g0045 a0002c0003t0005g0050 a0002c0003t0005g0058 a0002c0003t0005g0060 a0002c0003t0005g0061 a0002c0003t0005g0069 a0002c0003t0005g0070 a0002c0003t0005g0071 a0002c0003t0005g0090 a0002c0003t0013g0016 a0002c0003t0013g0055 a0002c0003t0013g0056 a0002c0003t0013g0086 a0002c0003t0014g0027 a0002c0003t0014g0028 a0002c0003t0014g0088 a0002c0003t0019g0051 a0002c0003t0019g0059 a0002c0003t0019g0072 a0002c0003t0039g0030 a0002c0003t0043g0111 a0003c0006t0005g0074 a0003c0006t0005g0076 a0004c0004t0005g0041 a0004c0004t0014g0039 a0011c0007t0002g0040	33	266	0.1241	26	c.147 others(45): Show c.1474-2913_1474-2888dupTTTTTATATATTTTATATAGTATATA	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	10/19			chr17	TogoVar
BRIX1_chr5_34910711_34930996	34929743	G G	GCCCGCCG others(19): Show GCCCGCCGAGCGACTGCCAGCCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	440	0.0023	26	c.42 others(37): Show c.4248_*4249insCCCGCCGAGCGACTGCCAGCCCCGGC	BRIX1	ENSG00000113460.13	transcript	ENST00000336767.6	protein_coding		3748		chr5	TogoVar
BRK1_chr3_10110675_10132190	10123732	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02922.hp2 others(2): Show HG02109.hp1 HG02145.hp2 HG02922.hp2 HG03130.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0018 a0001c0001t0001g0111 a0001c0001t0003g0045 a0001c0001t0001g0018 a0001c0001t0001g0111 a0001c0001t0003g0045	5	356	0.0140	26	c.119 others(43): Show c.119-1873_119-1872insTTTTTTTTTTTTTTTTTTTTTTTTTT	BRK1	ENSG00000254999.4	transcript	ENST00000530758.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRMS1L_chr14_35821338_35876963	35873189	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	374	0.0027	26	c.27 others(37): Show c.2712_*2713insTATATATATATATATATATATATATA	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1227		chr14	TogoVar
BRMS1L_chr14_35821338_35876963	35873189	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA19083.hp1 NA18959.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0193 a0001c0001t0001g0130 a0001c0001t0001g0193	2	374	0.0054	26	c.27 others(37): Show c.2712_*2713insTGTGTGTATATATATATATATATATA	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1227		chr14	TogoVar
BRSK2_chr11_1384934_1467689	1466268	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00558.hp1 others(48): Show HG00140.hp1 HG00438.hp2 HG00558.hp1 HG00639.hp1 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01981.hp1 HG01993.hp2 HG02055.hp1 HG02559.hp1 HG02559.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp2 HG06807.hp2 NA18906.hp2 NA18945.hp1 NA18947.hp1 NA18953.hp2 NA18955.hp2 NA18970.hp2 NA18971.hp1 NA18983.hp2 NA19030.hp2 NA19060.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0007c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0048 a0001c0001t0063 a0001c0001t0064 a0001c0001t0068 a0001c0001t0076 a0001c0001t0078 a0001c0003t0001 a0001c0003t0014 a0001c0003t0026 a0001c0006t0001 a0001c0006t0027 a0002c0002t0013 a0002c0002t0030 a0007c0013t0004	a0001c0001t0001g0030 a0001c0001t0001g0062 a0001c0001t0001g0067 others(47): Show a0001c0001t0001g0030 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0241 a0001c0001t0003g0280 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0004g0051 a0001c0001t0004g0084 a0001c0001t0004g0172 a0001c0001t0004g0175 a0001c0001t0004g0177 a0001c0001t0004g0180 a0001c0001t0006g0229 a0001c0001t0006g0248 a0001c0001t0011g0310 a0001c0001t0014g0039 a0001c0001t0048g0342 a0001c0001t0063g0253 a0001c0001t0064g0261 a0001c0001t0068g0243 a0001c0001t0076g0182 a0001c0001t0078g0205 a0001c0003t0001g0114 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0138 a0001c0003t0014g0038 a0001c0003t0026g0054 a0001c0003t0026g0354 a0001c0006t0001g0047 a0001c0006t0027g0142 a0002c0002t0013g0001 a0002c0002t0030g0171 a0007c0013t0004g0065	51	360	0.1417	26	c.55 others(37): Show c.5545_*5546insACACACACACACACACACACACACAC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding		3580		chr11	TogoVar
BRWD1_chr21_39180482_39318632	39244921	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02027.hp2 HG02083.hp1 others(10): Show HG01952.hp2 HG02027.hp2 HG02083.hp1 HG02976.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp2 HG04204.hp2 NA18943.hp2 NA18969.hp1 NA18980.hp2 NA19054.hp1 NA20905.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0008 a0004c0003 others(2): Show a0001c0001 a0001c0008 a0004c0003 a0004c0019 a0005c0007	a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0045 a0001c0008t0003 a0004c0003t0006 a0004c0003t0029 a0004c0003t0056 a0004c0019t0006 a0005c0007t0070	a0001c0001t0003g0304 a0001c0001t0004g0269 a0001c0001t0004g0284 others(10): Show a0001c0001t0003g0304 a0001c0001t0004g0269 a0001c0001t0004g0284 a0001c0001t0011g0071 a0001c0001t0011g0073 a0001c0001t0045g0188 a0001c0008t0003g0316 a0001c0008t0003g0327 a0004c0003t0006g0154 a0004c0003t0029g0015 a0004c0003t0056g0160 a0004c0019t0006g0167 a0005c0007t0070g0289	13	338	0.0385	26	c.248 others(45): Show c.2481+2779_2481+2780insATATATATATATATATATATATATAT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	21/40			chr21	TogoVar
BRWD3_chrX_80664503_80814877	80700432	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0159 a0001c0001t0159	a0001c0001t0159g0262 a0001c0001t0159g0262	1	265	0.0038	26	c.283 others(43): Show c.2836-369_2836-368insTATATATATATATATATATATATATA	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	24/40			chrX	TogoVar
BRWD3_chrX_80664503_80814877	80700433	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(4): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00733.hp2 HG00741.hp2 HG03195.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0052 a0001c0001t0056 others(4): Show a0001c0001t0050 a0001c0001t0052 a0001c0001t0056 a0001c0001t0059 a0001c0001t0073 a0001c0001t0092 a0001c0001t0100	a0001c0001t0050g0009 a0001c0001t0052g0013 a0001c0001t0056g0016 others(4): Show a0001c0001t0050g0009 a0001c0001t0052g0013 a0001c0001t0056g0016 a0001c0001t0059g0025 a0001c0001t0073g0071 a0001c0001t0092g0140 a0001c0001t0100g0153	7	265	0.0264	26	c.283 others(43): Show c.2836-370_2836-369insATATATATATATATATATATATATAT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	24/40			chrX	TogoVar
BRWD3_chrX_80664503_80814877	80809759	A A	AAGAGAGA others(19): Show AAGAGAGAGAGAGAGAGAGAGAGAGAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0009 a0001c0001t0050g0009	1	265	0.0038	26	c.-31 others(35): Show c.-314_-289dupCTCTCTCTCTCTCTCTCTCTCTCTCT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	1/41	289		chrX	TogoVar
BSG_chr19_567596_588493	569668	C C	CGTTAAAT others(19): Show CGTTAAATGCTCGGGAAGTATTTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	306	0.0033	26	c.-29 others(37): Show c.-2967_-2966insGTTAAATGCTCGGGAAGTATTTGGGG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		2927		chr19	TogoVar
BSND_chr1_54993933_55022172	54996837	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 NA18962.hp2 NA19043.hp2 others(1): Show HG02280.hp1 NA18962.hp2 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0056 others(1): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0056 a0001c0001t0210	a0001c0001t0008g0012 a0001c0001t0009g0004 a0001c0001t0056g0014 others(1): Show a0001c0001t0008g0012 a0001c0001t0009g0004 a0001c0001t0056g0014 a0001c0001t0210g0012	4	448	0.0089	26	c.-23 others(37): Show c.-2350_-2349insTTTTTTTTTTTTTTTTTTTTTTTTTT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding		2095		chr1	TogoVar
BSN_chr3_49549477_49676549	49605580	T T	TTTATATA others(19): Show TTTATATATAATATATATTATATATTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp1 HG04228.hp1 HG02572.hp2 HG02922.hp1 HG04228.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0013 a0001c0001 a0007c0013	a0001c0001t0003 a0007c0013t0013 a0001c0001t0003 a0007c0013t0013	a0001c0001t0003g0096 a0007c0013t0013g0050 a0007c0013t0013g0051 a0001c0001t0003g0096 a0007c0013t0013g0050 a0007c0013t0013g0051	3	186	0.0161	26	c.225 others(45): Show c.225-19394_225-19393insTATATATAATATATATTATATATTAT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49613303	C C	CAAGAGAG others(19): Show CAAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0004 a0004	a0004c0022 a0004c0022	a0004c0022t0002 a0004c0022t0002	a0004c0022t0002g0034 a0004c0022t0002g0034	1	186	0.0054	26	c.225 others(45): Show c.225-11672_225-11671insAAGAGAGAGAGAGAGAGAGAGAGAGA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11			chr3	TogoVar
BSN_chr3_49549477_49676549	49613303	C C	CGAGAGAG others(19): Show CGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02698.hp2 NA18944.hp2 others(1): Show HG01515.hp2 HG02698.hp2 NA18944.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0012 a0002c0002t0001 a0001c0001t0002 a0001c0001t0012 a0002c0002t0001	a0001c0001t0002g0104 a0001c0001t0002g0110 a0001c0001t0012g0116 others(1): Show a0001c0001t0002g0104 a0001c0001t0002g0110 a0001c0001t0012g0116 a0002c0002t0001g0090	4	186	0.0215	26	c.225 others(45): Show c.225-11651_225-11626dupGAGAGAGAGAGAGAGAGAGAGAGAGA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49613303	C C	CGAGCGAG others(19): Show CGAGCGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03471.hp2 HG02055.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0135 a0001c0001t0002g0102 a0001c0001t0002g0135	2	186	0.0108	26	c.225 others(45): Show c.225-11669_225-11668insCGAGAGAGAGAGAGAGAGAGAGAGAG	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49673087	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0146 a0001c0001t0026g0146	1	186	0.0054	26	c.56 others(37): Show c.5602_*5603insTTTTTTTTTTTTTTTTTTTTTTTTTT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding		1539		chr3	TogoVar
BSPH1_chr19_47963046_47997170	47963893	C C	CTTTCTTT others(19): Show CTTTCTTTTTCTTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG02280.hp2 HG00733.hp2 HG02280.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0002c0003t0001g0414 a0001c0001t0001g0001 a0002c0003t0001g0414	2	444	0.0045	26	c.43 others(37): Show c.4318_*4319insAGAAAAGAAAAGAAAAGAAAAAGAAA	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding		4152		chr19	TogoVar

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