Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BMPER_chr7_33900539_34161427	34024357	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp1 HG02280.hp2 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0010 a0001c0002t0001 a0001c0002t0010	a0001c0002t0001g0163 a0001c0002t0010g0173 a0001c0002t0001g0163 a0001c0002t0010g0173	2	232	0.0086	36	c.577 others(55): Show c.577-21924_577-21923insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34129602	G G	GAGAGAGA others(29): Show GAGAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0170 a0001c0008t0004g0170	1	232	0.0043	36	c.174 others(57): Show c.1746-13621_1746-13620insGAGAGAGAGAGAAAGAGAGAGAGA GAGAAAGAGAGA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34129618	G G	GAGAAAGA others(29): Show GAGAAAGAGAGAGAGAGAGAAAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18966.hp2 HG01081.hp2 NA18966.hp2	a0002 a0004 a0002 a0004	a0002c0006 a0004c0009 a0002c0006 a0004c0009	a0002c0006t0001 a0004c0009t0005 a0002c0006t0001 a0004c0009t0005	a0002c0006t0001g0060 a0004c0009t0005g0041 a0002c0006t0001g0060 a0004c0009t0005g0041	2	232	0.0086	36	c.174 others(57): Show c.1746-13609_1746-13608insAAGAGAGAGAGAGAGAAAGAGAGA AAGAAAGAAAGA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34129622	G G	GAGAGAGA others(29): Show GAGAGAGAGAGAGAGAGAGAGAGAAAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0001 a0001c0001t0019g0001	1	232	0.0043	36	c.174 others(57): Show c.1746-13605_1746-13604insGAGAGAGAGAGAGAGAGAGAAAGA GAGAAAGAAAGA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34129630	G G	GAGAAAGA others(29): Show GAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0006 a0003c0019t0006	a0003c0019t0006g0013 a0003c0019t0006g0013	1	232	0.0043	36	c.174 others(57): Show c.1746-13593_1746-13592insGAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPR1A_chr10_86751619_86932969	86791687	T T	TCCTTCCT others(29): Show TCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0253 a0001c0002t0006g0253	1	278	0.0036	36	c.-26 others(57): Show c.-268+34771_-268+34772insTCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86791687	T T	TCCTTCCT others(29): Show TCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0076 a0001c0002t0004g0076	1	278	0.0036	36	c.-26 others(57): Show c.-268+34771_-268+34772insTCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86791707	C C	CCCTTCCT others(29): Show CCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp2 HG01515.hp1 others(11): Show HG01074.hp1 HG01074.hp2 HG01515.hp1 HG01517.hp1 HG01981.hp2 HG02148.hp1 HG03492.hp2 HG03704.hp1 NA18943.hp2 NA18952.hp2 NA18970.hp1 NA18971.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0003 a0001c0002t0004 a0001c0002t0016 others(3): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0016 a0001c0002t0030 a0002c0001t0008 a0002c0001t0009	a0001c0002t0003g0103 a0001c0002t0004g0049 a0001c0002t0004g0141 others(10): Show a0001c0002t0003g0103 a0001c0002t0004g0049 a0001c0002t0004g0141 a0001c0002t0004g0142 a0001c0002t0016g0094 a0001c0002t0016g0098 a0001c0002t0016g0099 a0001c0002t0016g0108 a0001c0002t0030g0139 a0001c0002t0030g0144 a0002c0001t0008g0043 a0002c0001t0008g0060 a0002c0001t0009g0001	14	278	0.0504	36	c.-26 others(57): Show c.-268+34791_-268+34792insTCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTTCCT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86824105	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0013 a0002c0001t0013	a0002c0001t0013g0107 a0002c0001t0013g0107	1	278	0.0036	36	c.-26 others(57): Show c.-267-14753_-267-14752insGTGTGTGTGTGTTTGTGTGTGTGT GTGTTTGTGTGT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86824105	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0143 a0001c0002t0003g0143	1	278	0.0036	36	c.-26 others(57): Show c.-267-14753_-267-14752insGTGTGTGTGTTTGTGTGTGTGTGT GTGTTTGTGTGT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86824105	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02486.hp1 HG02738.hp1 others(4): Show HG01192.hp2 HG02486.hp1 HG02738.hp1 NA18747.hp1 NA18947.hp1 NA18949.hp1 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0016 a0001c0002t0021 others(3): Show a0001c0002t0003 a0001c0002t0016 a0001c0002t0021 a0001c0002t0028 a0001c0002t0046 a0001c0002t0049	a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0016g0098 others(4): Show a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0016g0098 a0001c0002t0021g0154 a0001c0002t0028g0145 a0001c0002t0046g0062 a0001c0002t0049g0085	7	278	0.0252	36	c.-26 others(57): Show c.-267-14753_-267-14752insGTGTGTGTTTGTGTGTGTGTGTGT GTGTTTGTGTGT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(29): Show CACACACACATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0110 a0001c0002t0003g0110	1	278	0.0036	36	c.75 others(47): Show c.7579_*7580insACACACACATATATATATATATATATATATATAT AT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACATA others(29): Show CACACATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 NA18522.hp1 HG04228.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0064 a0001c0002t0007 a0001c0002t0064	a0001c0002t0007g0034 a0001c0002t0064g0037 a0001c0002t0007g0034 a0001c0002t0064g0037	2	278	0.0072	36	c.75 others(47): Show c.7579_*7580insACACATATATATATATATATATATATATATATAT AT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1B_chr4_94752955_95163448	95116421	G G	GCGCGCAC others(29): Show GCGCGCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0203 a0001c0001t0015g0203	1	226	0.0044	36	c.349 others(51): Show c.349+635_349+636insGCGCACACACACACACACACACACACACAC ACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95116421	G G	GCGCGCGC others(29): Show GCGCGCGCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0012 a0001c0001t0011g0012	1	226	0.0044	36	c.349 others(51): Show c.349+635_349+636insGCGCGCACACACACACACACACACACACAC ACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95120610	T T	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0030 a0001c0001t0018g0030	1	226	0.0044	36	c.350 others(53): Show c.350-3193_350-3158dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BNC2_chr9_16404503_16875670	16616790	G G	GGGAAGGA others(29): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0032 a0001c0001t0014g0032	1	176	0.0057	36	c.331 others(55): Show c.331-33706_331-33705insTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCC	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16861181	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0001 a0001c0001t0102g0001	1	176	0.0057	36	c.3+9 others(49): Show c.3+9464_3+9465insATATATATATATATATATATATATATATATAT ATAT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16861201	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0033 a0012c0014t0033	a0012c0014t0033g0078 a0012c0014t0033g0078	1	176	0.0057	36	c.3+9 others(49): Show c.3+9444_3+9445insTTATATATATATATATATATATATATATATAT ATAT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BOC_chr3_113206557_113292459	113260721	A A	ACAGAACA others(29): Show ACAGAACAGAACAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp2 HG01358.hp1 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0047 a0001c0002t0026 a0001c0002t0047	a0001c0002t0026g0361 a0001c0002t0047g0363 a0001c0002t0026g0361 a0001c0002t0047g0363	2	386	0.0052	36	c.377 others(53): Show c.377-7578_377-7577insCAGAACAGAACAGAACAGAACAGAACAG AACAGAAC	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19			chr3	TogoVar
BORCS7_chr10_102849259_102869961	102869497	T T	TCCTGAGT others(29): Show TCCTGAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02027.hp1 HG02129.hp1 others(7): Show HG01109.hp2 HG02027.hp1 HG02129.hp1 HG02451.hp1 HG02976.hp1 HG03098.hp2 HG03195.hp1 HG03540.hp1 NA18939.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0024 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0034	10	454	0.0220	36	c.65 others(47): Show c.6573_*6574insCCTGAGTCGCAGGCCGAGGAGACAGTGAGTGCGC GC	BORCS7	ENSG00000166275.16	transcript	ENST00000339834.10	protein_coding		4537		chr10	TogoVar
BORCS8_chr19_19171906_19197152	19174385	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0255 a0002c0002t0001g0255	1	428	0.0023	36	c.31 others(47): Show c.3117_*3118insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding		2520		chr19	TogoVar
BPHL_chr6_3113711_3158578	3145297	G G	GTGCTGGT others(29): Show GTGCTGGTTCGGGGTGGAGTGCTGGTTTGGGTTTGAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01884.hp1 HG01884.hp2 others(29): Show HG00280.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03927.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18944.hp2 NA18979.hp2 NA19011.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0006 a0001c0001 a0001c0005 a0003c0006	a0001c0001t0002 a0001c0001t0004 a0001c0005t0002 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0005t0002 a0003c0006t0002	a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0002g0043 others(24): Show a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0144 a0001c0001t0002g0228 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0260 a0001c0001t0004g0015 a0001c0001t0004g0039 a0001c0001t0004g0044 a0001c0001t0004g0201 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0005t0002g0045 a0003c0006t0002g0229 a0003c0006t0002g0230 a0003c0006t0002g0231 a0003c0006t0002g0233 a0003c0006t0002g0234	32	350	0.0914	36	c.788 others(53): Show c.788+4814_788+4815insTGGGTTTGAATGCTGGTTCGGGGTGGAG TGCTGGTT	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BPHL_chr6_3113711_3158578	3145482	A A	ATTCGGGG others(29): Show ATTCGGGGTGGAGTGCTGGTTCGGGGTGGAGTGCTGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01884.hp2 HG02258.hp2 others(23): Show HG00280.hp1 HG01884.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02970.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03927.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18944.hp2 NA18979.hp2 NA19011.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0006 a0001c0001 a0001c0005 a0003c0006	a0001c0001t0002 a0001c0001t0004 a0001c0005t0002 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0005t0002 a0003c0006t0002	a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0002g0099 others(18): Show a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0002g0099 a0001c0001t0002g0110 a0001c0001t0002g0144 a0001c0001t0002g0228 a0001c0001t0004g0015 a0001c0001t0004g0039 a0001c0001t0004g0044 a0001c0001t0004g0201 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0005t0002g0045 a0003c0006t0002g0229 a0003c0006t0002g0230 a0003c0006t0002g0231 a0003c0006t0002g0233 a0003c0006t0002g0234	26	350	0.0743	36	c.788 others(53): Show c.788+4977_788+5012dupGGGGTGGAGTGCTGGTTCGGGGTGGAGT GCTGGTTC	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BPIFA1_chr20_33230996_33248306	33231141	A A	AGAAGGAA others(29): Show AGAAGGAAGGAAGGAAGGAAGGAAGAAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 NA19240.hp1 HG03209.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0099 a0001c0001t0004g0075 a0001c0001t0002g0099 a0001c0001t0004g0075	2	382	0.0052	36	c.-49 others(47): Show c.-4925_-4924insGAAGGAAGGAAGGAAGGAAGGAAGAAAGGAAGGA AG	BPIFA1	ENSG00000198183.13	transcript	ENST00000354297.9	protein_coding		4854		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33231141	A A	AGAAGGAA others(29): Show AGAAGGAAGGAAGGAAGGAAGGAAGAAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03209.hp1 NA19240.hp2 HG01884.hp1 HG03209.hp1 NA19240.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0007c0008t0002 a0001c0001t0001 a0007c0008t0002	a0001c0001t0001g0028 a0001c0001t0001g0072 a0007c0008t0002g0124 a0001c0001t0001g0028 a0001c0001t0001g0072 a0007c0008t0002g0124	3	416	0.0072	36	c.35 others(47): Show c.3524_*3525insGAAGGAAGGAAGGAAGGAAGGAAGAAAGGAAGGA AG	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding		3336		chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33052548	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	374	0.0027	36	c.-14 others(47): Show c.-1432_-1431insTATATATATATATATATATATATATATATATATA TA	BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding		1354		chr20	TogoVar
BPNT2_chr8_56952931_56998867	56956044	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	356	0.0028	36	c.77 others(47): Show c.7748_*7749insATATATATATATATATATATATATATATATATAT AT	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding		1886		chr8	TogoVar
BPTF_chr17_67820503_67989378	67917130	C C	CATTGTCC others(29): Show CATTGTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0002 a0001c0032t0002	a0001c0032t0002g0007 a0001c0032t0002g0007	1	274	0.0037	36	c.530 others(55): Show c.5304-1584_5304-1583insATTGTCCTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27			chr17	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01433.hp1 NA18963.hp1 HG01361.hp1 HG01433.hp1 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0207 a0002c0002t0002g0209 a0002c0002t0002g0217 a0002c0002t0002g0207 a0002c0002t0002g0209 a0002c0002t0002g0217	3	274	0.0110	36	c.530 others(55): Show c.5304-1564_5304-1563insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	424	0.0024	36	c.127 others(53): Show c.127+2198_127+2199insAAAATATATATATATATATATATATATA TATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRCA1_chr17_43039295_43130364	43100644	A A	AACATATA others(29): Show AACATATATATAACATATATATATGTTATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02818.hp2 HG03041.hp2 others(1): Show HG00735.hp2 HG02818.hp2 HG03041.hp2 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0126 a0003c0003t0003g0127 a0003c0003t0003g0130 others(1): Show a0003c0003t0003g0126 a0003c0003t0003g0127 a0003c0003t0003g0130 a0003c0003t0003g0131	4	276	0.0145	36	c.442 others(51): Show c.442-765_442-764insATATATATATAACATATATATATGTTATAT ATATGT	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRD1_chr22_49768283_49832873	49828554	C C	CCCTGAGG others(29): Show CCCTGAGGCAGGGGGCGATTGGCCCATGCGTGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0019 a0001c0008t0001g0019	1	258	0.0039	36	c.-10 others(47): Show c.-1073_-1072insCCCCCCACGCATGGGCCAATCGCCCCCTGCCTCA GG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding		682		chr22	TogoVar
BRINP1_chr9_119161629_119374435	119367217	G G	GTGTGATT others(29): Show GTGTGATTGATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0175 a0001c0003t0001g0175	1	236	0.0042	36	c.-51 others(53): Show c.-51+1838_-51+1839insATATATATATATATATATATATATATAT CAATCACA	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	1/7			chr9	TogoVar
BRINP1_chr9_119161629_119374435	119367221	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01071.hp1 others(6): Show HG00280.hp1 HG01070.hp1 HG01071.hp1 HG01934.hp2 HG02523.hp1 HG03453.hp1 NA18948.hp1 NA18989.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0010t0001	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 others(6): Show a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0002g0221 a0001c0010t0001g0098	9	236	0.0381	36	c.-51 others(53): Show c.-51+1834_-51+1835insATATATATATATATATATATATATATAT ATATATAT	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	1/7			chr9	TogoVar
BRSK1_chr19_55278997_55317562	55283835	C C	CTGTTGGT others(29): Show CTGTTGGTTTTTATTTTTTATCTTTGTTCTTTTTTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	338	0.0030	36	c.-60 others(45): Show c.-608_-607insTGTTGGTTTTTATTTTTTATCTTTGTTCTTTTTTGT	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding		161		chr19	TogoVar
BRSK1_chr19_55278997_55317562	55286026	A A	AAGGGAGG others(29): Show AAGGGAGGAGGGGCTGGGGTCTGGAGTGCTGTGTCTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02896.hp1 HG03139.hp1 others(1): Show HG02257.hp2 HG02896.hp1 HG03139.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0248 others(1): Show a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0248 a0001c0001t0001g0249	4	338	0.0118	36	c.137 others(51): Show c.137-963_137-962insTCTGGAGTGCTGTGTCTGAGGGAGGAGGGG CTGGGG	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK1_chr19_55278997_55317562	55286041	G G	GGGGGCCT others(29): Show GGGGGCCTGGAGTGCTGAGTCTAAGGGAGGAGGGGCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	338	0.0030	36	c.137 others(51): Show c.137-962_137-961insCCTGGAGTGCTGAGTCTAAGGGAGGAGGGG CTGGGG	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK1_chr19_55278997_55317562	55286041	G G	GGGGGTCT others(29): Show GGGGGTCTGGAGTGCTGTGTCTGAGGGAGGAGGGGCT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	338	0.0030	36	c.137 others(51): Show c.137-950_137-949insTGTCTGAGGGAGGAGGGGCTGGGGTCTGGA GTGCTG	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK2_chr11_1384934_1467689	1396175	G G	GCTCCTCG others(29): Show GCTCCTCGTCTCTCTTCCCTTCCACCCACGTCCCCCA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0211 a0002c0002t0005g0211	1	360	0.0028	36	c.91+ others(51): Show c.91+5806_91+5841dupCGTCTCTCTTCCCTTCCACCCACGTCCCCC ACTCCT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1396175	G G	GCTCCTGG others(29): Show GCTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG01099.hp1 others(2): Show HG00280.hp1 HG00735.hp2 HG01099.hp1 HG01975.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0042 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0042 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008	a0001c0001t0001g0107 a0001c0001t0042g0160 a0002c0002t0002g0318 others(2): Show a0001c0001t0001g0107 a0001c0001t0042g0160 a0002c0002t0002g0318 a0002c0002t0005g0198 a0002c0002t0008g0116	5	360	0.0139	36	c.91+ others(51): Show c.91+5805_91+5806insGGTCCCTCTTCCCTTCCACCCACGTCCCCC ACTCCT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1396181	C C	CGTCCCTC others(29): Show CGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	360	0.0028	36	c.91+ others(51): Show c.91+5809_91+5810insCCTCTTCCCTTCCACCCACGTCCCCCACTC CTGGTC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1396185	T T	TCTCTTCC others(29): Show TCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp2 others(53): Show HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00621.hp1 HG00738.hp1 HG01081.hp2 HG01167.hp2 HG01361.hp1 HG02027.hp2 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02273.hp1 HG02723.hp2 HG02738.hp1 HG02922.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03831.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18955.hp1 NA18956.hp2 NA18963.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18990.hp1 NA18999.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0001c0016 a0002c0002 a0002c0008 a0006c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(31): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0036 a0001c0001t0044 a0001c0001t0046 a0001c0001t0057 a0001c0001t0067 a0001c0001t0078 a0001c0003t0004 a0001c0003t0014 a0001c0003t0026 a0001c0006t0027 a0001c0016t0018 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0010 a0002c0002t0015 a0002c0002t0023 a0002c0002t0029 a0002c0002t0040 a0002c0002t0041 a0002c0002t0051 a0002c0002t0053 a0002c0002t0072 a0002c0008t0002 a0006c0012t0037	a0001c0001t0001g0057 a0001c0001t0001g0076 a0001c0001t0001g0082 others(53): Show a0001c0001t0001g0057 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0141 a0001c0001t0001g0343 a0001c0001t0003g0203 a0001c0001t0003g0222 a0001c0001t0003g0268 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0084 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0011g0310 a0001c0001t0011g0352 a0001c0001t0021g0206 a0001c0001t0024g0299 a0001c0001t0025g0143 a0001c0001t0036g0300 a0001c0001t0044g0016 a0001c0001t0046g0083 a0001c0001t0057g0184 a0001c0001t0067g0252 a0001c0001t0078g0205 a0001c0003t0004g0290 a0001c0003t0014g0037 a0001c0003t0014g0038 a0001c0003t0026g0354 a0001c0006t0027g0142 a0001c0016t0018g0183 a0002c0002t0002g0075 a0002c0002t0002g0079 a0002c0002t0002g0140 a0002c0002t0002g0176 a0002c0002t0005g0224 a0002c0002t0005g0259 a0002c0002t0005g0269 a0002c0002t0007g0350 a0002c0002t0007g0351 a0002c0002t0008g0078 a0002c0002t0008g0167 a0002c0002t0010g0246 a0002c0002t0015g0327 a0002c0002t0023g0223 a0002c0002t0023g0255 a0002c0002t0029g0026 a0002c0002t0040g0298 a0002c0002t0041g0144 a0002c0002t0051g0077 a0002c0002t0053g0139 a0002c0002t0072g0273 a0002c0008t0002g0326 a0006c0012t0037g0293	56	360	0.1556	36	c.91+ others(51): Show c.91+5893_91+5928dupCCACCCACGTCCCCCACTCCTGGTCCCTCT TCCCTT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1396221	C C	CCTCTTCC others(29): Show CCTCTTCCCTTCCACCCACGTCCCCCGCTCCTCGTCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02074.hp1 HG02738.hp2 others(5): Show HG01167.hp1 HG02074.hp1 HG02738.hp2 NA18966.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0002c0002t0002 a0002c0002t0007 a0002c0002t0033	a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0003g0288 others(5): Show a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0003g0288 a0001c0001t0009g0100 a0001c0001t0009g0101 a0002c0002t0002g0159 a0002c0002t0007g0306 a0002c0002t0033g0286	8	360	0.0222	36	c.91+ others(51): Show c.91+5871_91+5872insGCTCCTCGTCTCTCTTCCCTTCCACCCACG TCCCCC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1396232	C C	CCACCCAC others(29): Show CCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19083.hp2 NA19080.hp1 NA19083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0335 a0001c0003t0001g0336 a0001c0003t0001g0335 a0001c0003t0001g0336	2	360	0.0056	36	c.91+ others(51): Show c.91+5892_91+5893insACACCCACGTCCCCCACTCCTGGTCCCTCT TCCCTT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1396247	A A	ACTCCTCG others(29): Show ACTCCTCGTCTCTCTTCCCTTCCACCCACGTCCCCCG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0163 a0001c0001t0060g0163	1	360	0.0028	36	c.91+ others(51): Show c.91+5877_91+5878insCGTCTCTCTTCCCTTCCACCCACGTCCCCC GCTCCT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1396247	A A	ACTCCTGG others(29): Show ACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0239 a0001c0001t0003g0239	1	360	0.0028	36	c.91+ others(51): Show c.91+5907_91+5908insGCTCCTGGTCCCTCTTCCCTTCCACCCACG TCCCCC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1396271	C C	CCCACGTC others(29): Show CCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTACAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0253 a0001c0001t0063g0253	1	360	0.0028	36	c.91+ others(51): Show c.91+5899_91+5934dupACGTCCCCCACTCCTGGTCCCTCTTCCCTT ACAGCC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1411955	A A	AGTCCTGC others(29): Show AGTCCTGCGGTGGGTGGAGTCTCAGCTGCGCCACCCC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0332 a0001c0001t0028g0333 a0001c0001t0028g0332 a0001c0001t0028g0333	2	360	0.0056	36	c.91+ others(53): Show c.91+21611_91+21612insACCCCGTCCTGCGGTGGGTGGAGTCTCA GCTGCGCC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1411955	A A	AGTCCTGC others(29): Show AGTCCTGCGGTGGGTGGAGTCTCAGCTGCGCCGCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG01070.hp2 others(35): Show HG00280.hp2 HG00642.hp1 HG01070.hp2 HG01109.hp2 HG01243.hp2 HG01433.hp2 HG02080.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0002c0011 a0002c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0047 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0047 a0001c0001t0062 a0002c0002t0002 a0002c0002t0016 a0002c0002t0029 a0002c0002t0069 a0002c0005t0005 a0002c0011t0002 a0002c0017t0052	a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0044 others(34): Show a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0192 a0001c0001t0001g0312 a0001c0001t0001g0339 a0001c0001t0003g0002 a0001c0001t0003g0045 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0203 a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0047g0340 a0001c0001t0062g0257 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0024 a0002c0002t0002g0031 a0002c0002t0002g0033 a0002c0002t0016g0207 a0002c0002t0016g0208 a0002c0002t0016g0240 a0002c0002t0029g0025 a0002c0002t0029g0026 a0002c0002t0069g0231 a0002c0005t0005g0289 a0002c0011t0002g0032 a0002c0017t0052g0008	38	360	0.1056	36	c.91+ others(53): Show c.91+21782_91+21817dupCAGCTGCGCCGCCCCGTCCTGCGGTGGG TGGAGTCT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar

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