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
BNC2_chr9_16404503_16875670	16498171	TATCATAT others(9): Show TATCATATATATATTCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02055.hp2 others(18): Show HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02257.hp2 HG02615.hp2 HG02698.hp2 HG02886.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 NA18962.hp2 NA18968.hp1 NA18982.hp2 NA18983.hp2 NA19002.hp1 NA19011.hp2 NA20129.hp2 NA21309.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0005 a0005c0006 others(1): Show a0001c0001 a0001c0005 a0005c0006 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0031 a0001c0001t0065 a0001c0001t0066 a0001c0001t0078 a0001c0001t0091 a0001c0001t0096 a0001c0001t0098 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0005t0073 a0005c0006t0026 a0007c0013t0103	a0001c0001t0001g0031 a0001c0001t0001g0056 a0001c0001t0001g0120 others(18): Show a0001c0001t0001g0031 a0001c0001t0001g0056 a0001c0001t0001g0120 a0001c0001t0002g0164 a0001c0001t0005g0102 a0001c0001t0011g0107 a0001c0001t0031g0129 a0001c0001t0031g0159 a0001c0001t0065g0104 a0001c0001t0066g0136 a0001c0001t0078g0011 a0001c0001t0091g0028 a0001c0001t0096g0055 a0001c0001t0098g0156 a0001c0001t0104g0087 a0001c0001t0105g0061 a0001c0001t0106g0034 a0001c0005t0073g0037 a0005c0006t0026g0047 a0005c0006t0026g0049 a0007c0013t0103g0019	21	176	0.1193	-16	c.669 others(35): Show c.669+54343_669+54358delGGAATATATATATGAT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16614958	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18962.hp2 NA18983.hp2 others(2): Show HG01099.hp2 NA18962.hp2 NA18983.hp2 NA19002.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0018 a0001c0001t0031 others(1): Show a0001c0001t0011 a0001c0001t0018 a0001c0001t0031 a0001c0001t0098	a0001c0001t0011g0107 a0001c0001t0018g0172 a0001c0001t0031g0129 others(2): Show a0001c0001t0011g0107 a0001c0001t0018g0172 a0001c0001t0031g0129 a0001c0001t0031g0159 a0001c0001t0098g0156	5	176	0.0284	-16	c.331 others(35): Show c.331-31889_331-31874delTTTTTTTTTTTTTTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16665434	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA19030.hp2 NA21309.hp1 HG01074.hp1 NA19030.hp2 NA21309.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0008 a0006c0018 a0001c0001 a0003c0008 a0006c0018	a0001c0001t0025 a0003c0008t0025 a0006c0018t0058 a0001c0001t0025 a0003c0008t0025 a0006c0018t0058	a0001c0001t0025g0027 a0003c0008t0025g0066 a0006c0018t0058g0058 a0001c0001t0025g0027 a0003c0008t0025g0066 a0006c0018t0058g0058	3	176	0.0171	-16	c.330 others(35): Show c.330+62347_330+62362delCTTTCTTTCTTTCTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16748922	CTATATAT others(9): Show CTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	176	0.0057	-16	c.4-1 others(31): Show c.4-10453_4-10438delTATATATATATATATA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16793648	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03098.hp1 NA19030.hp2 HG01433.hp2 HG03098.hp1 NA19030.hp2	a0003 a0003	a0003c0008 a0003c0022 a0003c0008 a0003c0022	a0003c0008t0025 a0003c0008t0100 a0003c0022t0027 a0003c0008t0025 a0003c0008t0100 a0003c0022t0027	a0003c0008t0025g0066 a0003c0008t0100g0072 a0003c0022t0027g0073 a0003c0008t0025g0066 a0003c0008t0100g0072 a0003c0022t0027g0073	3	176	0.0171	-16	c.4-5 others(31): Show c.4-55179_4-55164delAAAAAAAAAAAAAAAA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BNIP1_chr5_173139531_173169387	173148081	AAAATATA others(9): Show AAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0158 a0001c0001t0008g0158	1	352	0.0028	-16	c.177 others(33): Show c.177+1125_177+1140delAATATATATATATATA	BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
BNIP1_chr5_173139531_173169387	173148083	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG00741.hp1 others(11): Show HG00558.hp1 HG00621.hp1 HG00741.hp1 HG01952.hp1 HG02109.hp2 HG02683.hp1 HG02818.hp1 HG03098.hp1 HG03139.hp1 HG03225.hp1 HG03927.hp2 NA18978.hp2 NA18983.hp2 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0003c0004t0001 a0001c0001t0001 a0001c0001t0002 a0003c0004t0001	a0001c0001t0001g0011 a0001c0001t0001g0072 a0001c0001t0001g0103 others(10): Show a0001c0001t0001g0011 a0001c0001t0001g0072 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0155 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0002g0093 a0003c0004t0001g0011	14	352	0.0398	-16	c.177 others(33): Show c.177+1164_177+1179delATATATATATATATAT	BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
BNIP1_chr5_173139531_173169387	173166560	GATATATA others(9): Show GATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	352	0.0028	-16	c.26 others(27): Show c.2640_*2655delATATATATATATATAT	BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding		2174		chr5	TogoVar
BNIP1_chr5_173139531_173169387	173166588	TATATATA others(9): Show TATATATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	352	0.0028	-16	c.26 others(27): Show c.2668_*2683delATATATATATATATAC	BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding		2202		chr5	TogoVar
BNIP5_chr6_36310761_36341888	36316016	AAAAACTA others(9): Show AAAAACTAAATGGCTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0307 a0001c0001t0013g0307	1	424	0.0024	-16	c.13 others(27): Show c.1324_*1339delAAAGCCATTTAGTTTT	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	12/12	1324		chr6	TogoVar
BNIP5_chr6_36310761_36341888	36324575	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01069.hp1 others(36): Show HG00639.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01243.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01952.hp2 HG02004.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp2 HG02148.hp2 HG02257.hp2 HG02451.hp2 HG02602.hp2 HG02976.hp1 HG03239.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18949.hp2 NA18971.hp1 NA18974.hp2 NA18977.hp1 NA18993.hp1 NA18998.hp2 NA19005.hp2 NA19010.hp2 NA19030.hp2 NA19062.hp1 NA19077.hp2 NA19089.hp2 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0010 a0015 a0019	a0001c0001 a0001c0009 a0002c0002 others(5): Show a0001c0001 a0001c0009 a0002c0002 a0002c0006 a0003c0003 a0010c0014 a0015c0020 a0019c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0009t0001 a0002c0002t0001 a0002c0002t0002 a0002c0006t0002 a0003c0003t0001 a0003c0003t0002 a0010c0014t0001 a0015c0020t0001 a0019c0026t0001	a0001c0001t0001g0005 a0001c0001t0001g0033 a0001c0001t0001g0045 others(27): Show a0001c0001t0001g0005 a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0171 a0001c0001t0001g0208 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0306 a0001c0001t0001g0336 a0001c0001t0002g0093 a0001c0001t0012g0159 a0001c0009t0001g0144 a0002c0002t0001g0036 a0002c0002t0001g0197 a0002c0002t0001g0279 a0002c0002t0002g0054 a0002c0006t0002g0069 a0003c0003t0001g0341 a0003c0003t0002g0006 a0003c0003t0002g0018 a0010c0014t0001g0167 a0015c0020t0001g0298 a0019c0026t0001g0350	39	424	0.0920	-16	c.116 others(33): Show c.1169-401_1169-386delTATATATATATATATA	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11			chr6	TogoVar
BNIPL_chr1_151031586_151052720	151036180	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02615.hp2 HG02622.hp1 others(6): Show HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02895.hp2 HG03041.hp1 HG03139.hp2 HG03471.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0001g0040 a0001c0001t0001g0041 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0002g0039	9	362	0.0249	-16	c.-54 others(25): Show c.-545_-530delTTTTTTTTTTTTTTTT	BNIPL	ENSG00000163141.20	transcript	ENST00000368931.8	protein_coding		405		chr1	TogoVar
BOC_chr3_113206557_113292459	113210228	AACACACA others(9): Show AACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(83): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01361.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG02602.hp2 HG02615.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02818.hp2 HG03017.hp2 HG03098.hp2 HG03209.hp2 HG03239.hp2 HG03540.hp1 HG03710.hp1 HG03831.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18989.hp2 NA18991.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19060.hp2 NA19063.hp2 NA19066.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0012	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0010 a0001c0015 a0001c0021 a0001c0029 a0002c0004 a0003c0007 a0003c0017 a0004c0011 a0012c0027	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0001t0018 a0001c0001t0030 a0001c0001t0048 a0001c0002t0002 a0001c0002t0016 a0001c0002t0017 a0001c0002t0024 a0001c0003t0003 a0001c0003t0012 a0001c0003t0030 a0001c0005t0006 a0001c0008t0004 a0001c0010t0002 a0001c0015t0001 a0001c0021t0001 a0001c0029t0003 a0002c0004t0005 a0003c0007t0016 a0003c0017t0001 a0004c0011t0004 a0012c0027t0005	a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(81): Show a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0003g0055 a0001c0001t0017g0043 a0001c0001t0018g0146 a0001c0001t0018g0147 a0001c0001t0030g0046 a0001c0001t0048g0121 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0015 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0031 a0001c0002t0002g0053 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0141 a0001c0002t0002g0173 a0001c0002t0016g0338 a0001c0002t0017g0044 a0001c0002t0024g0140 a0001c0003t0003g0078 a0001c0003t0003g0095 a0001c0003t0003g0096 a0001c0003t0003g0348 a0001c0003t0012g0217 a0001c0003t0030g0045 a0001c0005t0006g0035 a0001c0005t0006g0068 a0001c0005t0006g0069 a0001c0005t0006g0070 a0001c0005t0006g0076 a0001c0008t0004g0038 a0001c0008t0004g0041 a0001c0008t0004g0042 a0001c0008t0004g0066 a0001c0008t0004g0099 a0001c0010t0002g0004 a0001c0015t0001g0083 a0001c0021t0001g0071 a0001c0029t0003g0091 a0002c0004t0005g0276 a0002c0004t0005g0278 a0002c0004t0005g0279 a0002c0004t0005g0280 a0002c0004t0005g0281 a0003c0007t0016g0131 a0003c0017t0001g0151 a0004c0011t0004g0051 a0004c0011t0004g0052 a0012c0027t0005g0277	86	386	0.2228	-16	c.-19 others(27): Show c.-1957_-1942delACACACACACACACAC	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding		1328		chr3	TogoVar
BOD1L1_chr4_13563738_13632725	13584441	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG03098.hp2 others(1): Show HG02280.hp1 HG02572.hp2 HG03098.hp2 HG03195.hp1	a0001 a0008 a0014 a0001 a0008 a0014	a0001c0001 a0008c0009 a0014c0037 a0001c0001 a0008c0009 a0014c0037	a0001c0001t0002 a0008c0009t0002 a0014c0037t0005 a0001c0001t0002 a0008c0009t0002 a0014c0037t0005	a0001c0001t0002g0097 a0008c0009t0002g0220 a0008c0009t0002g0221 others(1): Show a0001c0001t0002g0097 a0008c0009t0002g0220 a0008c0009t0002g0221 a0014c0037t0005g0032	4	258	0.0155	-16	c.843 others(35): Show c.8434-1721_8434-1706delACACACACACACACAC	BOD1L1	ENSG00000038219.13	transcript	ENST00000040738.10	protein_coding	17/25			chr4	TogoVar
BOLL_chr2_197721890_197790319	197782032	TTTTAAGG others(9): Show TTTTAAGGCAACAGAAC	T T	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	328	0.0031	-16	c.-15 others(31): Show c.-15-183_-15-168delGTTCTGTTGCCTTAAA	BOLL	ENSG00000152430.19	transcript	ENST00000392296.9	protein_coding	1/10			chr2	TogoVar
BOLL_chr2_197721890_197790319	197784391	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01074.hp2 others(10): Show HG00741.hp1 HG00741.hp2 HG01074.hp2 HG02145.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02886.hp2 HG03041.hp1 HG03195.hp2 HG03688.hp1 NA18995.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(10): Show a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0002g0087 a0001c0001t0003g0042	13	328	0.0396	-16	c.-16 others(31): Show c.-16+649_-16+664delATATATATATATATAT	BOLL	ENSG00000152430.19	transcript	ENST00000392296.9	protein_coding	1/10			chr2	TogoVar
BORA_chr13_72722923_72761196	72724727	TATATATA others(9): Show TATATATATATATACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	388	0.0026	-16	c.-32 others(27): Show c.-3295_-3280delATATATATATATACAC	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding		3195		chr13	TogoVar
BORA_chr13_72722923_72761196	72742765	TATACACA others(9): Show TATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18968.hp1 NA18988.hp1 NA18961.hp1 NA18968.hp1 NA18988.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0153 a0001c0002t0001g0047 a0001c0002t0001g0153	3	388	0.0077	-16	c.389 others(31): Show c.389-770_389-755delTACACACACACACACA	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
BORA_chr13_72722923_72761196	72742767	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp2 HG03225.hp1 others(2): Show HG02970.hp1 HG02970.hp2 HG03225.hp1 HG03540.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0171 a0001c0001t0001g0182 a0001c0001t0001g0027 a0001c0001t0001g0171 a0001c0001t0001g0182	5	388	0.0129	-16	c.389 others(31): Show c.389-740_389-725delCACACACACACACACA	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
BORCS6_chr17_8183345_8195180	8193292	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 NA18906.hp2 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	2	416	0.0048	-16	c.-31 others(27): Show c.-3168_-3153delTTTTTTTTTTTTTTTT	BORCS6	ENSG00000196544.8	transcript	ENST00000389017.6	protein_coding		3113		chr17	TogoVar
BORCS6_chr17_8183345_8195180	8193306	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	416	0.0024	-16	c.-31 others(27): Show c.-3182_-3167delATTTTTTTTTTTTTTT	BORCS6	ENSG00000196544.8	transcript	ENST00000389017.6	protein_coding		3127		chr17	TogoVar
BORCS7_chr10_102849259_102869961	102853688	GTATATAT others(9): Show GTATATATATGTGTATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01943.hp1 HG01192.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0004 a0001c0001t0006g0001 a0001c0001t0002g0004 a0001c0001t0006g0001	2	454	0.0044	-16	c.-59 others(25): Show c.-598_-583delTATATATATGTGTATA	BORCS7	ENSG00000166275.16	transcript	ENST00000339834.10	protein_coding		570		chr10	TogoVar
BORCS7_chr10_102849259_102869961	102858191	AGAGAGAG others(9): Show AGAGAGAGAGAGCGAGC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	454	0.0022	-16	c.142 others(33): Show c.142-2129_142-2114delCGAGCGAGAGAGAGAG	BORCS7	ENSG00000166275.16	transcript	ENST00000339834.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
BORCS8_chr19_19171906_19197152	19177693	GAAGAGAA others(9): Show GAAGAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01168.hp2 HG01169.hp1 others(2): Show HG01070.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0265 a0001c0001t0002g0278 a0001c0001t0002g0014 a0001c0001t0002g0265 a0001c0001t0002g0278	5	428	0.0117	-16	c.43 others(31): Show c.43-249_*43-234delTCTTTTCTTTTCTCTT	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPGM_chr7_134641853_134684816	134682496	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG02083.hp2 NA18980.hp1 others(1): Show HG01081.hp2 HG02083.hp2 NA18980.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0140 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0140	4	362	0.0111	-16	c.34 others(27): Show c.3466_*3481delGTGTGTGTGTGTGTGT	BPGM	ENSG00000172331.12	transcript	ENST00000344924.8	protein_coding		2681		chr7	TogoVar
BPIFA1_chr20_33230996_33248306	33231142	GAAGGAAG others(9): Show GAAGGAAGGAAGGAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0100 a0001c0002t0003g0100	1	382	0.0026	-16	c.-49 others(27): Show c.-4923_-4908delAAGGAAGGAAGGAAGA	BPIFA1	ENSG00000198183.13	transcript	ENST00000354297.9	protein_coding		4853		chr20	TogoVar
BPIFA1_chr20_33230996_33248306	33237898	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp2 others(72): Show HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00621.hp1 HG00738.hp2 HG01069.hp1 HG01081.hp2 HG01256.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp2 HG01928.hp2 HG01981.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02451.hp2 HG02523.hp2 HG02602.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp1 HG03486.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG04184.hp1 HG04199.hp2 NA18940.hp2 NA18941.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18955.hp1 NA18956.hp2 NA18962.hp2 NA18963.hp1 NA18983.hp2 NA18984.hp1 NA18987.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp1 NA19003.hp1 NA19011.hp2 NA19057.hp1 NA19062.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp2 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0002t0003	a0001c0001t0001g0138 a0001c0001t0002g0003 a0001c0001t0002g0007 others(25): Show a0001c0001t0001g0138 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0039 a0001c0001t0002g0059 a0001c0001t0002g0071 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0007g0036 a0001c0001t0008g0007 a0001c0001t0009g0003 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0100 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0103	75	382	0.1963	-16	c.160 others(29): Show c.160+65_160+80delGTGTGTGTGTGTGTGT	BPIFA1	ENSG00000198183.13	transcript	ENST00000354297.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33231142	GAAGGAAG others(9): Show GAAGGAAGGAAGGAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	416	0.0024	-16	c.35 others(27): Show c.3526_*3541delAAGGAAGGAAGGAAGA	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding		3337		chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33052540	GTGTGTGT others(9): Show GTGTGTGTGTATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	374	0.0027	-16	c.-14 others(27): Show c.-1439_-1424delTGTGTGTGTATATATA	BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding		1362		chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33080939	GTGGATGG others(9): Show GTGGATGGATGGTTGGT	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	344	0.0029	-16	c.-16 others(31): Show c.-16+389_-16+404delGGTTGGTTGGATGGAT	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFC_chr22_32408845_32469446	32450093	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0064 a0002c0002t0002g0064	1	422	0.0024	-16	c.246 others(33): Show c.246-2769_246-2754delGTGTGTGTGTGTGTGT	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	4/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32457559	GTCCATCC others(9): Show GTCCATCCATCCATCCA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0413 a0001c0001t0001g0413	1	422	0.0024	-16	c.1-1 others(27): Show c.1-189_1-174delTGGATGGATGGATGGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	2/16			chr22	TogoVar
BPI_chr20_38299156_38342505	38321141	GTGGATGG others(9): Show GTGGATGGATGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00558.hp2 others(67): Show HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01192.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02293.hp1 HG02683.hp2 HG02698.hp1 HG03017.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG04204.hp1 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18969.hp2 NA18972.hp2 NA18978.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19056.hp2 NA19063.hp2 NA19065.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19081.hp2 NA19085.hp1 NA20905.hp1	a0001 a0004 a0006 others(12): Show a0001 a0004 a0006 a0007 a0008 a0010 a0014 a0021 a0023 a0025 a0026 a0029 a0036 a0037 a0038	a0001c0001 a0004c0004 a0004c0032 others(13): Show a0001c0001 a0004c0004 a0004c0032 a0006c0005 a0007c0007 a0008c0008 a0010c0010 a0014c0016 a0021c0036 a0023c0028 a0025c0029 a0026c0048 a0029c0038 a0036c0052 a0037c0053 a0038c0054	a0001c0001t0002 a0001c0001t0006 a0004c0004t0001 others(20): Show a0001c0001t0002 a0001c0001t0006 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0032t0003 a0006c0005t0002 a0007c0007t0001 a0007c0007t0002 a0008c0008t0001 a0010c0010t0001 a0010c0010t0002 a0010c0010t0003 a0014c0016t0001 a0014c0016t0002 a0021c0036t0001 a0023c0028t0003 a0025c0029t0002 a0026c0048t0001 a0029c0038t0002 a0036c0052t0002 a0037c0053t0001 a0038c0054t0001	a0001c0001t0002g0269 a0001c0001t0006g0289 a0004c0004t0001g0016 others(57): Show a0001c0001t0002g0269 a0001c0001t0006g0289 a0004c0004t0001g0016 a0004c0004t0001g0046 a0004c0004t0001g0165 a0004c0004t0002g0025 a0004c0004t0002g0048 a0004c0004t0002g0051 a0004c0004t0003g0006 a0004c0004t0003g0015 a0004c0004t0003g0047 a0004c0004t0003g0049 a0004c0004t0003g0050 a0004c0004t0003g0228 a0004c0004t0003g0230 a0004c0032t0003g0305 a0006c0005t0002g0238 a0007c0007t0001g0035 a0007c0007t0001g0203 a0007c0007t0001g0207 a0007c0007t0001g0208 a0007c0007t0001g0210 a0007c0007t0001g0211 a0007c0007t0001g0215 a0007c0007t0001g0290 a0007c0007t0002g0010 a0007c0007t0002g0026 a0007c0007t0002g0034 a0007c0007t0002g0205 a0007c0007t0002g0206 a0007c0007t0002g0212 a0007c0007t0002g0213 a0008c0008t0001g0229 a0010c0010t0001g0162 a0010c0010t0001g0279 a0010c0010t0002g0030 a0010c0010t0002g0161 a0010c0010t0002g0163 a0010c0010t0002g0167 a0010c0010t0002g0271 a0010c0010t0002g0277 a0010c0010t0002g0278 a0010c0010t0002g0281 a0010c0010t0002g0310 a0010c0010t0002g0340 a0010c0010t0003g0284 a0014c0016t0001g0166 a0014c0016t0001g0276 a0014c0016t0002g0040 a0014c0016t0002g0280 a0021c0036t0001g0227 a0023c0028t0003g0006 a0023c0028t0003g0164 a0025c0029t0002g0010 a0025c0029t0002g0133 a0026c0048t0001g0158 a0029c0038t0002g0202 a0036c0052t0002g0204 a0037c0053t0001g0209 a0038c0054t0001g0268	70	426	0.1643	-16	c.756 others(31): Show c.756+897_756+912delGGATGGATGGATGGAT	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPNT1_chr1_220052482_220094788	220090911	CATATATA others(9): Show CATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02451.hp2 HG02622.hp2 others(9): Show HG02145.hp2 HG02451.hp2 HG02622.hp2 HG02630.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03209.hp2 HG03225.hp2 HG03579.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0305 a0001c0001t0002g0080 a0001c0001t0002g0081 others(9): Show a0001c0001t0001g0305 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0270 a0001c0001t0002g0282 a0001c0001t0002g0323 a0001c0001t0002g0326 a0001c0001t0002g0330 a0001c0001t0002g0334	12	424	0.0283	-16	c.-12 others(27): Show c.-1250_-1235delATATATATATATATAT	BPNT1	ENSG00000162813.18	transcript	ENST00000322067.12	protein_coding		1124		chr1	TogoVar
BPTF_chr17_67820503_67989378	67953961	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00597.hp2 others(96): Show HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01169.hp2 HG01175.hp2 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01884.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02071.hp2 HG02257.hp1 HG02273.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp2 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18950.hp2 NA18954.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp1 NA18983.hp2 NA18986.hp1 NA18989.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19067.hp1 NA19077.hp1 NA19079.hp2 NA19087.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0011 a0013 a0001 a0011 a0013	a0001c0001 a0001c0003 a0001c0009 others(7): Show a0001c0001 a0001c0003 a0001c0009 a0001c0013 a0001c0015 a0001c0016 a0001c0020 a0001c0021 a0011c0019 a0013c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0003t0003 a0001c0009t0003 a0001c0013t0001 a0001c0015t0001 a0001c0016t0001 a0001c0020t0001 a0001c0021t0001 a0011c0019t0001 a0013c0025t0005	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 others(96): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0179 a0001c0001t0001g0260 a0001c0001t0002g0056 a0001c0001t0002g0080 a0001c0001t0011g0128 a0001c0003t0003g0094 a0001c0003t0003g0096 a0001c0009t0003g0083 a0001c0013t0001g0044 a0001c0015t0001g0161 a0001c0016t0001g0076 a0001c0020t0001g0258 a0001c0021t0001g0177 a0011c0019t0001g0059 a0013c0025t0005g0038	99	274	0.3613	-16	c.792 others(35): Show c.7927-5554_7927-5539delTTTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67981984	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00558.hp1 others(98): Show HG00280.hp1 HG00544.hp1 HG00558.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01169.hp2 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01884.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18950.hp2 NA18956.hp2 NA18962.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp1 NA18983.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19067.hp1 NA19077.hp1 NA19079.hp2 NA19082.hp2 NA19087.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0013 a0001c0016 others(5): Show a0001c0001 a0001c0013 a0001c0016 a0001c0020 a0001c0021 a0001c0024 a0001c0031 a0003c0004	a0001c0001t0001 a0001c0001t0011 a0001c0013t0001 others(6): Show a0001c0001t0001 a0001c0001t0011 a0001c0013t0001 a0001c0016t0001 a0001c0020t0001 a0001c0021t0001 a0001c0024t0001 a0001c0031t0001 a0003c0004t0004	a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0001g0035 others(98): Show a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0011g0128 a0001c0013t0001g0044 a0001c0016t0001g0076 a0001c0020t0001g0258 a0001c0021t0001g0177 a0001c0024t0001g0139 a0001c0031t0001g0137 a0003c0004t0004g0165 a0003c0004t0004g0166 a0003c0004t0004g0167 a0003c0004t0004g0168 a0003c0004t0004g0169 a0003c0004t0004g0170 a0003c0004t0004g0171 a0003c0004t0004g0172 a0003c0004t0004g0173 a0003c0004t0004g0174 a0003c0004t0004g0175 a0003c0004t0004g0176	101	274	0.3686	-16	c.872 others(33): Show c.8727-243_8727-228delATATATATATATATAT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRAF_chr7_140714337_140929929	140814758	TATATATT others(9): Show TATATATTATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 NA18906.hp2 HG02280.hp2 HG02572.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0016 a0001c0001t0009 a0001c0001t0016	a0001c0001t0009g0115 a0001c0001t0009g0150 a0001c0001t0016g0151 a0001c0001t0009g0115 a0001c0001t0009g0150 a0001c0001t0016g0151	3	190	0.0158	-16	c.505 others(33): Show c.505-5779_505-5764delGTTATATATAATATAT	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	3/19			chr7	TogoVar
BRAF_chr7_140714337_140929929	140884429	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	190	0.0053	-16	c.139 others(35): Show c.139-34233_139-34218delCACACACACACACACA	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	1/19			chr7	TogoVar
BRAF_chr7_140714337_140929929	140918869	GTGGCTCA others(9): Show GTGGCTCACGCCTGTAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00558.hp1 others(18): Show HG00099.hp2 HG00408.hp1 HG00558.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG02738.hp1 HG03490.hp1 HG03654.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp1 NA18943.hp2 NA18956.hp2 NA18959.hp1 NA18968.hp2 NA19001.hp1 NA19007.hp2 NA19043.hp1 NA19066.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0031	a0001c0001t0001g0174 a0001c0001t0004g0159 a0001c0001t0004g0161 others(18): Show a0001c0001t0001g0174 a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0175 a0001c0001t0010g0153 a0001c0001t0010g0163 a0001c0001t0010g0176 a0001c0001t0024g0160 a0001c0001t0025g0162 a0001c0001t0030g0181 a0001c0001t0031g0180	21	190	0.1105	-16	c.138 others(33): Show c.138+5681_138+5696delTTACAGGCGTGAGCCA	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	1/19			chr7	TogoVar
BRAF_chr7_140725665_140929929	140814758	TATATATT others(9): Show TATATATTATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 NA18906.hp2 HG02280.hp1 HG02572.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0031 a0001c0001t0032 a0001c0001t0021 a0001c0001t0031 a0001c0001t0032	a0001c0001t0021g0155 a0001c0001t0031g0156 a0001c0001t0032g0119 a0001c0001t0021g0155 a0001c0001t0031g0156 a0001c0001t0032g0119	3	196	0.0153	-16	c.505 others(33): Show c.505-5779_505-5764delGTTATATATAATATAT	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	3/17			chr7	TogoVar
BRAF_chr7_140725665_140929929	140884429	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	196	0.0051	-16	c.139 others(35): Show c.139-34233_139-34218delCACACACACACACACA	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	1/17			chr7	TogoVar
BRAF_chr7_140725665_140929929	140918869	GTGGCTCA others(9): Show GTGGCTCACGCCTGTAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00558.hp1 others(18): Show HG00099.hp1 HG00408.hp1 HG00558.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG02738.hp2 HG03490.hp1 HG03654.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 NA18943.hp2 NA18956.hp2 NA18959.hp2 NA18968.hp2 NA19001.hp1 NA19007.hp1 NA19043.hp1 NA19066.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0034 others(4): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0034 a0001c0001t0043 a0001c0001t0044 a0001c0001t0058 a0001c0001t0059	a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0170 others(18): Show a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0009g0165 a0001c0001t0009g0166 a0001c0001t0009g0173 a0001c0001t0009g0174 a0001c0001t0009g0177 a0001c0001t0034g0169 a0001c0001t0043g0164 a0001c0001t0044g0158 a0001c0001t0058g0185 a0001c0001t0059g0186	21	196	0.1071	-16	c.138 others(33): Show c.138+5681_138+5696delTTACAGGCGTGAGCCA	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	1/17			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2555703	TCGCTCCG others(9): Show TCGCTCCGACAGATCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	424	0.0024	-16	c.-24 others(25): Show c.-249_-234delGTGATCTGTCGGAGCG	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding		180		chr7	TogoVar
BRCA1_chr17_43039295_43130364	43100630	TGTTATAT others(9): Show TGTTATATATATATAAC	T T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	276	0.0036	-16	c.442 others(31): Show c.442-766_442-751delGTTATATATATATAAC	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRCA2_chr13_32310508_32405268	32368001	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02698.hp1 HG02809.hp2 others(2): Show HG02257.hp1 HG02698.hp1 HG02809.hp2 NA19030.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0014 a0001c0003t0036 a0003c0005t0003 a0001c0003t0014 a0001c0003t0036 a0003c0005t0003	a0001c0003t0014g0078 a0001c0003t0014g0079 a0001c0003t0014g0080 others(2): Show a0001c0003t0014g0078 a0001c0003t0014g0079 a0001c0003t0014g0080 a0001c0003t0036g0081 a0003c0005t0003g0044	5	398	0.0126	-16	c.833 others(35): Show c.8332-2380_8332-2365delTTTTTTTTTTTTTTTT	BRCA2	ENSG00000139618.18	transcript	ENST00000380152.8	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
BRCC3_chrX_155066508_155128077	155076386	CAAAAACA others(9): Show CAAAAACAAAAAAACAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG02109.hp1 others(2): Show HG01109.hp1 HG01891.hp1 HG02109.hp1 HG03516.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0046 a0001c0001t0002g0103 a0001c0001t0002g0013 a0001c0001t0002g0046 a0001c0001t0002g0103	5	254	0.0197	-16	c.196 others(31): Show c.196-770_196-755delCAAAAAAACAAAAAAA	BRCC3	ENSG00000185515.16	transcript	ENST00000330045.12	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
BRD1_chr22_49768283_49832873	49832717	AACACACA others(9): Show AACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	258	0.0039	-16	c.-52 others(27): Show c.-5251_-5236delGTGTGTGTGTGTGTGT	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding		4845		chr22	TogoVar
BRD4_chr19_15230519_15337539	15278105	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02895.hp1 HG02897.hp2 HG01243.hp1 HG02895.hp1 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0024 a0002c0003t0017 a0001c0004t0024 a0002c0003t0017	a0001c0004t0024g0038 a0001c0004t0024g0040 a0002c0003t0017g0016 a0001c0004t0024g0038 a0001c0004t0024g0040 a0002c0003t0017g0016	3	208	0.0144	-16	c.-34 others(33): Show c.-34-4988_-34-4973delTTTTTTTTTTTTTTTT	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	1/19			chr19	TogoVar
BRD4_chr19_15230519_15337539	15292777	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01192.hp2 others(6): Show HG01070.hp1 HG01071.hp1 HG01192.hp2 HG01884.hp1 HG01978.hp1 HG02027.hp1 HG02896.hp1 HG02897.hp1 NA18995.hp2	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0001c0013 a0002c0007 others(2): Show a0001c0001 a0001c0013 a0002c0007 a0002c0022 a0015c0034	a0001c0001t0002 a0001c0001t0004 a0001c0001t0075 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0075 a0001c0013t0002 a0001c0013t0021 a0002c0007t0003 a0002c0022t0049 a0015c0034t0048	a0001c0001t0002g0044 a0001c0001t0002g0063 a0001c0001t0004g0079 others(6): Show a0001c0001t0002g0044 a0001c0001t0002g0063 a0001c0001t0004g0079 a0001c0001t0075g0206 a0001c0013t0002g0107 a0001c0013t0021g0108 a0002c0007t0003g0168 a0002c0022t0049g0029 a0015c0034t0048g0092	9	208	0.0433	-16	c.-34 others(35): Show c.-34-19660_-34-19645delTTTTTTTTTTTTTTTT	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	1/19			chr19	TogoVar
BRD4_chr19_15230519_15337539	15298620	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02723.hp1 others(1): Show HG02055.hp2 HG02559.hp2 HG02723.hp1 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0008 a0002c0003t0008 a0001c0001t0008 a0002c0003t0008	a0001c0001t0008g0203 a0001c0001t0008g0204 a0002c0003t0008g0200 others(1): Show a0001c0001t0008g0203 a0001c0001t0008g0204 a0002c0003t0008g0200 a0002c0003t0008g0205	4	208	0.0192	-16	c.-34 others(35): Show c.-34-25503_-34-25488delTTTTTTTTTTTTTTTT	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	1/19			chr19	TogoVar

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