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
ASB5_chr4_176208673_176274222	176218533	AATATATA others(37): Show AATATATATATTTGTATGATATATATATTTGTATGATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00733.hp1 others(45): Show HG00280.hp2 HG00408.hp1 HG00733.hp1 HG01071.hp1 HG01109.hp1 HG01256.hp1 HG01258.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG02040.hp1 HG02273.hp2 HG02523.hp2 HG02622.hp1 HG02735.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03710.hp1 HG03831.hp1 HG04199.hp2 NA18612.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18960.hp1 NA18963.hp1 NA18966.hp2 NA18972.hp2 NA18982.hp1 NA18999.hp2 NA19000.hp2 NA19006.hp2 NA19062.hp2 NA19074.hp1 NA19081.hp1 NA19089.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(40): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0005g0120 a0001c0001t0005g0122 a0001c0001t0008g0083 a0001c0001t0008g0102 a0001c0001t0009g0126 a0001c0001t0014g0111 a0001c0001t0018g0048 a0001c0001t0020g0375	48	410	0.1171	-44	c.671 others(61): Show c.671-1568_671-1525delATTTATATATCATACAAATATATATATC ATACAAATATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176219533	AATATATA others(37): Show AATATATATATGTATGATATATAAATATGTATATATTTGTATGAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp2 HG01192.hp1 others(3): Show HG00735.hp2 HG01175.hp2 HG01192.hp1 NA18977.hp2 NA19078.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0100 others(3): Show a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0100 a0001c0001t0001g0121 a0001c0001t0001g0137 a0001c0001t0015g0112	6	410	0.0146	-44	c.670 others(61): Show c.670+1578_670+1621delATCATACAAATATATACATATTTATATA TCATACATATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB8_chr12_48142789_48162515	48156425	TGGTAATT others(37): Show TGGTAATTCCAAGAATGGCAGCAGAAGACAGAGCATCTAAAGCAG	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18960.hp1 NA18990.hp1 others(3): Show NA18948.hp2 NA18960.hp1 NA18990.hp1 NA19064.hp2 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0027 a0001c0001t0002g0205 a0001c0001t0007g0133 others(1): Show a0001c0001t0002g0027 a0001c0001t0002g0205 a0001c0001t0007g0133 a0001c0001t0007g0204	6	450	0.0133	-44	c.-34 others(60): Show c.-34+990_-34+1033delCTGCTTTAGATGCTCTGTCTTCTGCTGCC ATTCTTGGAATTACC	ASB8	ENSG00000177981.11	transcript	ENST00000317697.8	protein_coding	1/3			chr12	TogoVar
ASIC1_chr12_50052596_50088611	50071946	GAGGACAG others(37): Show GAGGACAGTGGCTGTTGTTTAGGCCAGTCTGAGGGCAGTGGCAGA	G G	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	324	0.0031	-44	c.559 others(61): Show c.559-5262_559-5219delCAGTGGCTGTTGTTTAGGCCAGTCTGAG GGCAGTGGCAGAAGGA	ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
ASRGL1_chr11_62332448_62398412	62386461	ATACATAT others(37): Show ATACATATCATAGATATGTACATATATATGTACATATATAGATAT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02622.hp1 HG02630.hp2 others(4): Show HG02056.hp1 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02970.hp2 NA18939.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0021 a0001c0001t0038 a0001c0005t0040 others(3): Show a0001c0001t0021 a0001c0001t0038 a0001c0005t0040 a0001c0005t0041 a0002c0004t0034 a0002c0004t0035	a0001c0001t0021g0335 a0001c0001t0021g0337 a0001c0001t0038g0338 others(4): Show a0001c0001t0021g0335 a0001c0001t0021g0337 a0001c0001t0038g0338 a0001c0005t0040g0314 a0001c0005t0041g0313 a0002c0004t0034g0184 a0002c0004t0035g0183	7	370	0.0189	-44	c.492 others(61): Show c.492-2671_492-2628delTACATATCATAGATATGTACATATATAT GTACATATATAGATAT	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6			chr11	TogoVar
ATL2_chr2_38288954_38382273	38325623	TACATACA others(37): Show TACATACACACACACACACACACACACACACACACCAGTACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01943.hp2 HG01981.hp1 others(7): Show HG00099.hp1 HG01943.hp2 HG01981.hp1 HG02083.hp1 HG02135.hp2 HG02280.hp1 HG03490.hp1 HG03654.hp1 NA19056.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0035 a0002c0006t0009	a0001c0001t0001g0079 a0001c0001t0002g0065 a0001c0001t0002g0066 others(7): Show a0001c0001t0001g0079 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0073 a0001c0001t0002g0088 a0001c0001t0002g0123 a0001c0001t0004g0077 a0001c0001t0004g0102 a0001c0001t0035g0090 a0002c0006t0009g0157	10	236	0.0424	-44	c.364 others(61): Show c.364-6648_364-6605delGTGTGTACTGGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTATGT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATP6AP1_chrX_154423677_154441516	154431308	GTGGTCCT others(37): Show GTGGTCCTAAGAGCTCAAAAGACTTCAATGCTCGATGCTTCCTCC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02622.hp2 others(4): Show HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02647.hp1 HG02818.hp1 HG03486.hp1 HG03486.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0003 a0003c0004t0004 a0001c0002t0003 a0003c0004t0004	a0001c0002t0003g0015 a0003c0004t0004g0019 a0003c0004t0004g0025 others(1): Show a0001c0002t0003g0015 a0003c0004t0004g0019 a0003c0004t0004g0025 a0003c0004t0004g0043	7	302	0.0232	-44	c.289 others(59): Show c.289-521_289-478delTGGTCCTAAGAGCTCAAAAGACTTCAATGC TCGATGCTTCCTCC	ATP6AP1	ENSG00000071553.18	transcript	ENST00000369762.7	protein_coding	2/9			chrX	TogoVar
ATP6V0A4_chr7_138701294_138803196	138784235	CGTATATA others(37): Show CGTATATATATATATATACATATATATATATACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0003 a0003c0022t0003	a0003c0022t0003g0216 a0003c0022t0003g0216	1	376	0.0027	-44	c.-18 others(61): Show c.-18+1879_-18+1922delATATATATATATGTATATATATATATGT ATATATATATATATAC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	2/21			chr7	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546468	ATATATGT others(37): Show ATATATGTGTATATATATATATATATATATATATATATATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG01256.hp1 others(46): Show HG00408.hp2 HG00609.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01496.hp2 HG01934.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02738.hp1 HG02922.hp2 HG03471.hp2 HG03516.hp2 HG03669.hp2 HG03704.hp1 NA18612.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18953.hp2 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp2 NA18968.hp2 NA18978.hp2 NA18990.hp2 NA18991.hp2 NA18997.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19084.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0265 a0001c0001t0001g0280 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0017 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0228 a0001c0001t0002g0254 a0001c0001t0003g0002 a0001c0001t0003g0164 a0001c0001t0003g0178 a0001c0001t0003g0303	49	410	0.1195	-44	c.-46 others(55): Show c.-4669_-4626delCATATATATATATATATATATATATATATATATA TACACATATA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		3892		chr2	TogoVar
ATP6V1H_chr8_53710543_53848245	53755685	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp2 HG02145.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0247 a0001c0001t0001g0006 a0001c0001t0001g0247	2	286	0.0070	-44	c.127 others(61): Show c.1277+826_1277+869delATATATATATATATATATATATATATAT ATATATATATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP8B1_chr18_57641426_57808315	57670492	CAGGCGGG others(37): Show CAGGCGGGTGCCACTGCATCTGGCTAATCTTTGTATTTTTGGTAG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0020 a0001c0001t0008g0020	1	314	0.0032	-44	c.193 others(61): Show c.1932+932_1932+975delCTACCAAAAATACAAAGATTAGCCAGAT GCAGTGGCACCCGCCT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	17/27			chr18	TogoVar
ATP8B3_chr19_1777075_1817276	1801859	CATTTTGC others(37): Show CATTTTGCAGAAGAAGGAAACTGAGGCCTGGAAGATGACATCCCT	C C	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0002 a0005c0014t0002	a0005c0014t0002g0011 a0005c0014t0002g0011	1	390	0.0026	-44	c.115 others(59): Show c.1152+53_1152+96delAGGGATGTCATCTTCCAGGCCTCAGTTTCC TTCTTCTGCAAAAT	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	12/28			chr19	TogoVar
ATP9B_chr18_79064394_79383283	79372175	CTCCCCTG others(37): Show CTCCCCTGCCTCCTGCCCCCTCGTCCCCTGCCTCCTGCCCCCTCG	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0226 a0002c0002t0002g0226	1	298	0.0034	-44	c.301 others(61): Show c.3013-603_3013-560delCCCTGCCTCCTGCCCCCTCGTCCCCTGC CTCCTGCCCCCTCGTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115837466	CCACACAC others(37): Show CCACACACACACACACACACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG00738.hp2 others(21): Show HG00639.hp2 HG00735.hp2 HG00738.hp2 HG01109.hp1 HG01891.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02622.hp2 HG02723.hp1 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp2 NA18994.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0004 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0036 a0001c0001t0042 a0001c0001t0048 a0001c0003t0037 a0001c0005t0007 a0001c0005t0018 a0001c0005t0021 a0001c0005t0032 a0002c0004t0007 a0002c0008t0011 a0002c0008t0044	a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0002g0111 others(21): Show a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0006g0109 a0001c0001t0008g0023 a0001c0001t0008g0030 a0001c0001t0019g0020 a0001c0001t0020g0115 a0001c0001t0026g0010 a0001c0001t0036g0117 a0001c0001t0042g0095 a0001c0001t0048g0107 a0001c0003t0037g0121 a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0018g0003 a0001c0005t0021g0007 a0001c0005t0032g0005 a0002c0004t0007g0011 a0002c0008t0011g0073 a0002c0008t0044g0063	24	128	0.1875	-44	c.390 others(65): Show c.3904-10393_3904-10350delACACACACACACACACACACACAC ACACACACACACACACACAC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRX_chrX_77499880_77791216	77626028	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0206 a0002c0002t0002g0206	1	218	0.0046	-44	c.513 others(63): Show c.5135-5540_5135-5497delATATATATATATATATATATATATAT ATATATATATATATATAT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	19/34			chrX	TogoVar
ATXN1_chr6_16294112_16766460	16367701	TGCCTTGC others(37): Show TGCCTTGCAAGAAGGTATGCCTAGACTTGCAAGAAGGTATGCCTA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00609.hp1 others(17): Show HG00408.hp1 HG00423.hp1 HG00609.hp1 HG00735.hp1 HG01109.hp2 HG01884.hp1 HG02056.hp1 HG02155.hp1 HG02486.hp2 HG02630.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG03516.hp2 HG04115.hp1 NA18522.hp2 NA18952.hp2 NA18960.hp2 NA18972.hp1 NA19030.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0013 a0020	a0001c0001 a0002c0002 a0003c0051 others(9): Show a0001c0001 a0002c0002 a0003c0051 a0004c0005 a0006c0008 a0007c0009 a0008c0012 a0008c0024 a0009c0042 a0013c0013 a0013c0038 a0020c0020	a0001c0001t0011 a0001c0001t0020 a0002c0002t0003 others(12): Show a0001c0001t0011 a0001c0001t0020 a0002c0002t0003 a0002c0002t0010 a0003c0051t0010 a0004c0005t0002 a0006c0008t0040 a0007c0009t0002 a0008c0012t0005 a0008c0024t0001 a0009c0042t0011 a0013c0013t0005 a0013c0013t0016 a0013c0038t0034 a0020c0020t0026	a0001c0001t0011g0131 a0001c0001t0020g0002 a0002c0002t0003g0007 others(17): Show a0001c0001t0011g0131 a0001c0001t0020g0002 a0002c0002t0003g0007 a0002c0002t0003g0061 a0002c0002t0003g0133 a0002c0002t0010g0015 a0003c0051t0010g0173 a0004c0005t0002g0096 a0006c0008t0040g0154 a0007c0009t0002g0164 a0008c0012t0005g0078 a0008c0012t0005g0091 a0008c0012t0005g0168 a0008c0024t0001g0074 a0009c0042t0011g0047 a0013c0013t0005g0036 a0013c0013t0005g0100 a0013c0013t0016g0153 a0013c0038t0034g0139 a0020c0020t0026g0088	20	182	0.1099	-44	c.-16 others(65): Show c.-160-39275_-160-39232delTAGGCATACCTTCTTGCAAGTCTA GGCATACCTTCTTGCAAGGC	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
AUTS2_chr7_69593475_70798506	70377325	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0039 a0001c0003t0008g0039	1	76	0.0132	-44	c.661 others(63): Show c.661-58421_661-58378delTATATATATATATATATATATATATA TATATATATATATATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	GGTGTGTG others(37): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02895.hp2 HG02896.hp2 others(2): Show HG01109.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0033 a0002c0002t0002g0075 a0002c0002t0002g0077 others(1): Show a0001c0001t0001g0033 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0114	5	446	0.0112	-44	c.287 others(59): Show c.287+695_287+738delACACACACACACACACACACACACACACAC ACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AZU1_chr19_822837_837018	835437	CGCGTGCA others(37): Show CGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG06807.hp1 HG02258.hp2 HG02451.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0001 a0001c0003t0001g0086 a0001c0004t0001g0083 a0001c0001t0001g0001 a0001c0003t0001g0086 a0001c0004t0001g0083	3	391	0.0077	-44	c.35 others(55): Show c.3561_*3604delGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGT	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3420		chr19	TogoVar
B3GNT6_chr11_77029398_77046973	77032668	TATATATA others(37): Show TATATATATATACACATACATACATACATATATATATATACATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0074 a0002c0003t0016g0074	1	442	0.0023	-44	c.-18 others(55): Show c.-1810_-1767delATATATATATACACATACATACATACATATATAT ATATACATAC	B3GNT6	ENSG00000198488.10	transcript	ENST00000622824.1	protein_coding		1729		chr11	TogoVar
BAHCC1_chr17_81390457_81471331	81411490	GCCTGCCT others(37): Show GCCTGCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03130.hp1 HG02717.hp2 HG03130.hp1	a0001 a0017 a0001 a0017	a0001c0007 a0017c0023 a0001c0007 a0017c0023	a0001c0007t0009 a0017c0023t0015 a0001c0007t0009 a0017c0023t0015	a0001c0007t0009g0260 a0017c0023t0015g0277 a0001c0007t0009g0260 a0017c0023t0015g0277	2	332	0.0060	-44	c.178 others(63): Show c.178+11577_178+11620delGCCTGCCTGCCTGCCTGCCTGCCTTC CTTCCTTCCTTCCTTCCT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98405344	GCTTTCTT others(37): Show GCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0003 a0003c0010t0003	a0003c0010t0003g0296 a0003c0010t0003g0296	1	298	0.0034	-44	c.-45 others(55): Show c.-4536_-4493delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding		4255		chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81119129	CCAGGTGA others(37): Show CCAGGTGAGGGCCAGGTGAGGGTCAGGTGAGGGTCAGGTGAGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG03225.hp2 HG03516.hp1 HG02055.hp2 HG03225.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0336 a0001c0001t0012g0337 a0001c0001t0012g0338 a0001c0001t0012g0336 a0001c0001t0012g0337 a0001c0001t0012g0338	3	376	0.0080	-44	c.32 others(55): Show c.3291_*3334delCAGGTGAGGGCCAGGTGAGGGTCAGGTGAGGGTC AGGTGAGGGT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding		1696		chr17	TogoVar
BANK1_chr4_101785730_102079812	101986787	GTGTATAT others(37): Show GTGTATATATATGTGTATATATATGTATATATATGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0237 a0002c0003t0003g0237	1	284	0.0035	-44	c.120 others(65): Show c.1207-34693_1207-34650delGTGTATATATATGTATATATATGT GTATATATATGTATATATAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BCAR1_chr16_75223181_75256624	75250662	CCCTCACC others(37): Show CCCTCACCTCGGTCCAGCGATCAGCCTCTCGGACCCTCGAGAGGG	C C	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	392	0.0026	-44	c.12+ others(57): Show c.12+765_12+808delCCCTCTCGAGGGTCCGAGAGGCTGATCGCTGG ACCGAGGTGAGG	BCAR1	ENSG00000050820.17	transcript	ENST00000162330.10	protein_coding	1/6			chr16	TogoVar
BCL11B_chr14_99164287_99277197	99199661	TGTGTGTG others(37): Show TGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCACGTGCAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0089 a0001c0002t0089	a0001c0002t0089g0345 a0001c0002t0089g0345	1	350	0.0029	-44	c.641 others(63): Show c.641-23510_641-23467delGTGCACGTGCGCGCGCGCGCGCACAC ACACACACACACACACAC	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL2_chr18_63118346_63324769	63169248	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00597.hp2 others(70): Show HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00733.hp2 HG00738.hp2 HG01074.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02622.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03471.hp1 HG03654.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18941.hp2 NA18944.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18983.hp1 NA18985.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19068.hp1 NA19084.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0048 a0001c0001t0049 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0001t0061 a0001c0001t0062 a0001c0002t0002 a0001c0002t0009 a0001c0002t0035 a0001c0004t0002 a0001c0004t0038 a0002c0003t0004	a0001c0001t0001g0102 a0001c0001t0001g0136 a0001c0001t0001g0143 others(70): Show a0001c0001t0001g0102 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0238 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0035 a0001c0001t0003g0122 a0001c0001t0003g0179 a0001c0001t0004g0133 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0155 a0001c0001t0004g0188 a0001c0001t0004g0206 a0001c0001t0005g0132 a0001c0001t0005g0161 a0001c0001t0005g0176 a0001c0001t0005g0184 a0001c0001t0005g0195 a0001c0001t0006g0028 a0001c0001t0007g0218 a0001c0001t0008g0024 a0001c0001t0010g0137 a0001c0001t0012g0242 a0001c0001t0013g0116 a0001c0001t0013g0157 a0001c0001t0014g0135 a0001c0001t0014g0149 a0001c0001t0016g0026 a0001c0001t0017g0219 a0001c0001t0019g0237 a0001c0001t0020g0120 a0001c0001t0020g0240 a0001c0001t0029g0032 a0001c0001t0030g0031 a0001c0001t0032g0014 a0001c0001t0048g0140 a0001c0001t0049g0173 a0001c0001t0052g0230 a0001c0001t0054g0255 a0001c0001t0055g0252 a0001c0001t0058g0257 a0001c0001t0061g0262 a0001c0001t0062g0260 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0009g0060 a0001c0002t0035g0079 a0001c0004t0002g0039 a0001c0004t0002g0044 a0001c0004t0038g0040 a0002c0003t0004g0096 a0002c0003t0004g0097	73	264	0.2765	-44	c.586 others(63): Show c.586-40533_586-40490delGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAA	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL9_chr1_147536501_147631216	147541147	AGAGAGAG others(37): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0225 a0001c0001t0006g0225	1	316	0.0032	-44	c.-10 others(54): Show c.-1004_-961delGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGTGTG TGTGTGTGT	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		353		chr1	TogoVar
BCLAF3_chrX_19907860_19996061	19995632	AGAAAGAA others(37): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAGGGAGGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0065 a0001c0001t0005g0065	1	207	0.0048	-44	c.-48 others(55): Show c.-4803_-4760delCTCCCTCCCTCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	BCLAF3	ENSG00000173681.17	transcript	ENST00000379682.9	protein_coding		4572		chrX	TogoVar
BCO1_chr16_81233689_81296142	81235157	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG03098.hp1 HG02451.hp2 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0123 a0001c0007t0001g0148 a0001c0002t0001g0123 a0001c0007t0001g0148	2	402	0.0050	-44	c.-37 others(55): Show c.-3751_-3708delATATATATATATATATATATATATATATATATAT ATATATATAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3531		chr16	TogoVar
BCO1_chr16_81233689_81296142	81284240	TTATATAT others(37): Show TTATATATTTATATATAAATATATATTTATATATTTATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(378): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0002 a0001c0005 others(22): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0011 a0001c0017 a0001c0018 a0002c0004 a0002c0006 a0002c0020 a0002c0022 a0003c0003 a0003c0009 a0004c0008 a0005c0010 a0005c0024 a0006c0014 a0006c0016 a0007c0026 a0009c0021 a0010c0015 a0011c0023 a0012c0012 a0013c0019 a0014c0025	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0007t0001 a0001c0011t0001 a0001c0017t0001 a0001c0018t0001 a0002c0004t0001 a0002c0006t0001 a0002c0020t0001 a0002c0022t0001 a0003c0003t0001 a0003c0009t0001 a0004c0008t0001 a0005c0010t0001 a0005c0024t0001 a0006c0014t0001 a0006c0016t0001 a0007c0026t0001 a0009c0021t0001 a0010c0015t0001 a0011c0023t0001 a0012c0012t0001 a0013c0019t0001 a0014c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(369): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0366 a0001c0001t0001g0374 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0393 a0001c0001t0002g0204 a0001c0001t0002g0349 a0001c0001t0002g0368 a0001c0001t0002g0372 a0001c0001t0002g0375 a0001c0001t0002g0376 a0001c0001t0002g0377 a0001c0001t0002g0383 a0001c0001t0002g0390 a0001c0002t0001g0003 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0089 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0107 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0127 a0001c0002t0001g0135 a0001c0002t0001g0146 a0001c0002t0001g0149 a0001c0002t0001g0166 a0001c0002t0001g0172 a0001c0002t0001g0358 a0001c0002t0001g0359 a0001c0002t0002g0034 a0001c0005t0001g0012 a0001c0005t0001g0013 a0001c0005t0001g0020 a0001c0005t0001g0021 a0001c0005t0001g0022 a0001c0005t0001g0023 a0001c0005t0001g0024 a0001c0005t0001g0025 a0001c0005t0001g0026 a0001c0005t0001g0027 a0001c0005t0001g0030 a0001c0005t0001g0031 a0001c0005t0001g0091 a0001c0005t0001g0097 a0001c0005t0001g0111 a0001c0005t0001g0112 a0001c0005t0001g0113 a0001c0005t0001g0114 a0001c0005t0001g0116 a0001c0005t0001g0117 a0001c0005t0001g0118 a0001c0005t0001g0119 a0001c0005t0001g0120 a0001c0005t0001g0121 a0001c0005t0001g0122 a0001c0005t0001g0125 a0001c0005t0001g0126 a0001c0005t0001g0131 a0001c0005t0001g0132 a0001c0005t0001g0143 a0001c0005t0001g0151 a0001c0005t0001g0153 a0001c0005t0001g0155 a0001c0005t0001g0156 a0001c0005t0001g0167 a0001c0007t0001g0148 a0001c0007t0001g0201 a0001c0007t0001g0235 a0001c0011t0001g0081 a0001c0017t0001g0133 a0001c0018t0001g0276 a0002c0004t0001g0004 a0002c0004t0001g0032 a0002c0004t0001g0033 a0002c0004t0001g0035 a0002c0004t0001g0039 a0002c0004t0001g0044 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0050 a0002c0004t0001g0051 a0002c0004t0001g0053 a0002c0004t0001g0055 a0002c0004t0001g0064 a0002c0004t0001g0065 a0002c0004t0001g0066 a0002c0004t0001g0078 a0002c0004t0001g0079 a0002c0004t0001g0080 a0002c0004t0001g0082 a0002c0004t0001g0090 a0002c0004t0001g0092 a0002c0004t0001g0093 a0002c0004t0001g0094 a0002c0004t0001g0099 a0002c0004t0001g0102 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0106 a0002c0004t0001g0108 a0002c0004t0001g0109 a0002c0004t0001g0110 a0002c0004t0001g0128 a0002c0004t0001g0129 a0002c0004t0001g0130 a0002c0004t0001g0134 a0002c0004t0001g0139 a0002c0004t0001g0140 a0002c0004t0001g0141 a0002c0004t0001g0142 a0002c0004t0001g0144 a0002c0004t0001g0145 a0002c0004t0001g0168 a0002c0006t0001g0028 a0002c0006t0001g0150 a0002c0006t0001g0163 a0002c0006t0001g0173 a0002c0006t0001g0186 a0002c0006t0001g0222 a0002c0006t0001g0238 a0002c0006t0001g0243 a0002c0006t0001g0245 a0002c0006t0001g0248 a0002c0006t0001g0249 a0002c0006t0001g0250 a0002c0006t0001g0310 a0002c0006t0001g0311 a0002c0006t0001g0312 a0002c0006t0001g0314 a0002c0006t0001g0315 a0002c0006t0001g0321 a0002c0006t0001g0364 a0002c0006t0001g0378 a0002c0006t0001g0389 a0002c0020t0001g0275 a0002c0022t0001g0333 a0003c0003t0001g0006 a0003c0003t0001g0007 a0003c0003t0001g0105 a0003c0003t0001g0158 a0003c0003t0001g0177 a0003c0003t0001g0194 a0003c0003t0001g0196 a0003c0003t0001g0200 a0003c0003t0001g0202 a0003c0003t0001g0228 a0003c0003t0001g0239 a0003c0003t0001g0246 a0003c0003t0001g0251 a0003c0003t0001g0291 a0003c0003t0001g0292 a0003c0003t0001g0293 a0003c0003t0001g0301 a0003c0003t0001g0303 a0003c0003t0001g0304 a0003c0003t0001g0309 a0003c0003t0001g0313 a0003c0003t0001g0316 a0003c0003t0001g0319 a0003c0003t0001g0320 a0003c0003t0001g0322 a0003c0003t0001g0323 a0003c0003t0001g0324 a0003c0003t0001g0327 a0003c0003t0001g0328 a0003c0003t0001g0332 a0003c0003t0001g0334 a0003c0003t0001g0335 a0003c0003t0001g0336 a0003c0003t0001g0337 a0003c0003t0001g0338 a0003c0003t0001g0339 a0003c0003t0001g0340 a0003c0003t0001g0346 a0003c0003t0001g0351 a0003c0003t0001g0354 a0003c0003t0001g0357 a0003c0003t0001g0360 a0003c0003t0001g0363 a0003c0003t0001g0365 a0003c0003t0001g0367 a0003c0003t0001g0369 a0003c0003t0001g0371 a0003c0003t0001g0373 a0003c0003t0001g0387 a0003c0003t0001g0388 a0003c0009t0001g0052 a0003c0009t0001g0088 a0003c0009t0001g0171 a0004c0008t0001g0054 a0004c0008t0001g0084 a0004c0008t0001g0096 a0005c0010t0001g0095 a0005c0010t0001g0343 a0005c0024t0001g0384 a0006c0014t0001g0098 a0006c0016t0001g0010 a0007c0026t0001g0370 a0009c0021t0001g0391 a0010c0015t0001g0154 a0011c0023t0001g0174 a0012c0012t0001g0152 a0013c0019t0001g0188 a0014c0025t0001g0302	381	402	0.9478	-44	c.120 others(63): Show c.1208-1283_1208-1240delAATATATATTTATATATTTATATATA AATATATATTTATATATA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
BCOR_chrX_40046251_40102958	40046532	AAATATAT others(37): Show AAATATATATATATATATGTATATATATATATATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG06807.hp1 HG03471.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0120 a0001c0001t0002g0033 a0001c0001t0001g0120 a0001c0001t0002g0033	2	257	0.0078	-44	c.55 others(55): Show c.5533_*5576delCATATATATATATATATATATATATACATATATA TATATATATT	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4718		chrX	TogoVar
BEND3_chr6_107060182_107120515	107073197	GTATGTAT others(37): Show GTATGTATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG02896.hp1 others(4): Show HG02572.hp2 HG02647.hp2 HG02896.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0009 a0001c0001 a0001c0012 a0002c0009	a0001c0001t0003 a0001c0001t0013 a0001c0001t0024 others(2): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0024 a0001c0012t0003 a0002c0009t0005	a0001c0001t0003g0230 a0001c0001t0013g0195 a0001c0001t0013g0199 others(4): Show a0001c0001t0003g0230 a0001c0001t0013g0195 a0001c0001t0013g0199 a0001c0001t0024g0052 a0001c0001t0024g0325 a0001c0012t0003g0058 a0002c0009t0005g0218	7	368	0.0190	-44	c.241 others(61): Show c.241-2291_241-2248delTATATATATATATATATATATATATATA TATATATATATACATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BEND3_chr6_107060182_107120515	107073201	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0318 a0001c0003t0004g0318	1	368	0.0027	-44	c.241 others(61): Show c.241-2295_241-2252delTATATATATATATATATATATATATATA TATATATATATATATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BFSP2_chr3_133395056_133480208	133446570	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG04204.hp2 NA19240.hp2 HG02257.hp1 HG04204.hp2 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0015 a0001c0001t0001g0137 a0005c0006t0001g0264 a0001c0001t0001g0015 a0001c0001t0001g0137 a0005c0006t0001g0264	3	276	0.0109	-44	c.490 others(59): Show c.490-720_490-677delTATATATATATATATATATATATATATATA TATATATATATATA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BICD1_chr12_32101847_32388633	32346572	ATATATAT others(37): Show ATATATATATACGTGTATATATATATATATATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG04204.hp1 NA18906.hp1 others(1): Show HG01175.hp2 HG04204.hp1 NA18906.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 others(1): Show a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018	a0001c0001t0010g0014 a0001c0001t0012g0265 a0001c0001t0015g0020 others(1): Show a0001c0001t0010g0014 a0001c0001t0012g0265 a0001c0001t0015g0020 a0001c0001t0018g0268	4	290	0.0138	-44	c.276 others(63): Show c.2764+7604_2764+7647delCGTGTATATATATATATATATATATA TATACGTGTATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BID_chr22_17729138_17779469	17756432	CTTCTTTC others(37): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp2 HG01169.hp1 others(9): Show HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01433.hp1 HG02071.hp1 HG02258.hp1 HG03516.hp1 HG03654.hp2 HG06807.hp2 NA18945.hp2 NA19057.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0005t0001 a0002c0002t0002 a0001c0001t0001 a0001c0005t0001 a0002c0002t0002	a0001c0001t0001g0007 a0001c0001t0001g0045 a0001c0001t0001g0135 others(7): Show a0001c0001t0001g0007 a0001c0001t0001g0045 a0001c0001t0001g0135 a0001c0001t0001g0177 a0001c0001t0001g0240 a0001c0001t0001g0319 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0005t0001g0003 a0002c0002t0002g0048	12	362	0.0332	-44	c.-58 others(61): Show c.-58-6302_-58-6259delAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAA	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BIN2_chr12_51276038_51329174	51295577	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00597.hp2 others(30): Show HG00140.hp2 HG00438.hp1 HG00597.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01515.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02257.hp2 HG02280.hp1 HG02630.hp2 HG02818.hp1 HG02970.hp2 HG03209.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp2 NA18942.hp1 NA18943.hp1 NA18947.hp2 NA18951.hp2 NA18964.hp1 NA18966.hp1 NA18979.hp2 NA18991.hp1 NA18992.hp1 NA18994.hp2 NA19030.hp2 NA19063.hp2 NA19065.hp2 NA19090.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0009	a0001c0001 a0003c0003 a0004c0005 others(2): Show a0001c0001 a0003c0003 a0004c0005 a0004c0006 a0009c0017	a0001c0001t0001 a0003c0003t0001 a0004c0005t0001 others(3): Show a0001c0001t0001 a0003c0003t0001 a0004c0005t0001 a0004c0005t0005 a0004c0006t0001 a0009c0017t0001	a0001c0001t0001g0273 a0003c0003t0001g0189 a0003c0003t0001g0234 others(29): Show a0001c0001t0001g0273 a0003c0003t0001g0189 a0003c0003t0001g0234 a0003c0003t0001g0355 a0004c0005t0001g0022 a0004c0005t0001g0024 a0004c0005t0001g0029 a0004c0005t0001g0032 a0004c0005t0001g0033 a0004c0005t0001g0036 a0004c0005t0001g0037 a0004c0005t0001g0038 a0004c0005t0001g0039 a0004c0005t0001g0040 a0004c0005t0001g0041 a0004c0005t0001g0044 a0004c0005t0001g0046 a0004c0005t0001g0047 a0004c0005t0001g0048 a0004c0005t0001g0049 a0004c0005t0001g0050 a0004c0005t0001g0051 a0004c0005t0001g0078 a0004c0005t0005g0035 a0004c0006t0001g0005 a0004c0006t0001g0023 a0004c0006t0001g0025 a0004c0006t0001g0030 a0004c0006t0001g0042 a0004c0006t0001g0043 a0004c0006t0001g0045 a0009c0017t0001g0366	33	400	0.0825	-44	c.761 others(59): Show c.761+175_761+218delATATATATATATATATATATATATATATAT ATATATATATATAT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12			chr12	TogoVar
BMAL1_chr11_13272790_13392266	13284190	ATATGTGT others(37): Show ATATGTGTGTATATATATATGTGTATATATATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	314	0.0032	-44	c.-26 others(63): Show c.-263+6271_-263+6314delGTGTGTATATATATATGTGTATATAT ATATATATGTGTGTGTAT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMPER_chr7_33900539_34161427	33941017	TTTACATA others(37): Show TTTACATATAATTTATATATTTATATATAATTTATATGTAATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0012 a0001c0010t0012	a0001c0010t0012g0008 a0001c0010t0012g0008	1	232	0.0043	-44	c.319 others(61): Show c.319+3694_319+3737delTATATATAATTTATATGTAATATATTAC ATATAATTTATATATT	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPR1A_chr10_86751619_86932969	86751757	ATGCGCAC others(37): Show ATGCGCACATATGTGTGCACACATACGCATATGCGCACATATGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(92): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01192.hp2 HG01255.hp1 HG01258.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03041.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18943.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19001.hp2 NA19007.hp1 NA19010.hp2 NA19060.hp1 NA19062.hp2 NA19068.hp2 NA19074.hp1 NA19088.hp2 NA19089.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0005 a0002c0001 others(1): Show a0001c0002 a0001c0005 a0002c0001 a0003c0008	a0001c0002t0003 a0001c0002t0004 a0001c0002t0016 others(25): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0016 a0001c0002t0017 a0001c0002t0021 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0030 a0001c0002t0040 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048 a0001c0002t0049 a0001c0005t0004 a0002c0001t0008 a0002c0001t0009 a0002c0001t0013 a0002c0001t0015 a0002c0001t0018 a0002c0001t0019 a0002c0001t0038 a0002c0001t0041 a0002c0001t0042 a0002c0001t0043 a0002c0001t0044 a0003c0008t0013	a0001c0002t0003g0048 a0001c0002t0003g0065 a0001c0002t0003g0068 others(91): Show a0001c0002t0003g0048 a0001c0002t0003g0065 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0075 a0001c0002t0003g0081 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0003g0089 a0001c0002t0003g0091 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0003g0095 a0001c0002t0003g0096 a0001c0002t0003g0097 a0001c0002t0003g0103 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0115 a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0003g0140 a0001c0002t0003g0143 a0001c0002t0003g0275 a0001c0002t0004g0049 a0001c0002t0004g0051 a0001c0002t0004g0067 a0001c0002t0004g0076 a0001c0002t0004g0079 a0001c0002t0004g0088 a0001c0002t0004g0100 a0001c0002t0004g0105 a0001c0002t0004g0112 a0001c0002t0004g0113 a0001c0002t0004g0114 a0001c0002t0004g0141 a0001c0002t0004g0142 a0001c0002t0004g0277 a0001c0002t0016g0094 a0001c0002t0016g0098 a0001c0002t0016g0099 a0001c0002t0016g0108 a0001c0002t0017g0039 a0001c0002t0017g0090 a0001c0002t0017g0104 a0001c0002t0021g0074 a0001c0002t0027g0014 a0001c0002t0027g0015 a0001c0002t0028g0061 a0001c0002t0028g0145 a0001c0002t0029g0066 a0001c0002t0029g0124 a0001c0002t0030g0139 a0001c0002t0030g0144 a0001c0002t0040g0038 a0001c0002t0045g0111 a0001c0002t0046g0062 a0001c0002t0047g0106 a0001c0002t0048g0080 a0001c0002t0049g0085 a0001c0005t0004g0063 a0002c0001t0008g0043 a0002c0001t0008g0053 a0002c0001t0008g0054 a0002c0001t0008g0055 a0002c0001t0008g0056 a0002c0001t0008g0057 a0002c0001t0008g0060 a0002c0001t0009g0001 a0002c0001t0009g0041 a0002c0001t0009g0042 a0002c0001t0009g0045 a0002c0001t0009g0046 a0002c0001t0009g0047 a0002c0001t0013g0072 a0002c0001t0013g0082 a0002c0001t0013g0102 a0002c0001t0013g0107 a0002c0001t0015g0044 a0002c0001t0015g0073 a0002c0001t0015g0123 a0002c0001t0018g0101 a0002c0001t0018g0116 a0002c0001t0018g0122 a0002c0001t0019g0077 a0002c0001t0019g0119 a0002c0001t0038g0040 a0002c0001t0041g0058 a0002c0001t0042g0059 a0002c0001t0043g0052 a0002c0001t0044g0078 a0003c0008t0013g0064	95	278	0.3417	-44	c.-54 others(55): Show c.-5429_-5386delTGCGCACATATGTGTGCACACATACGCATATGCG CACATATGTG	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		4861		chr10	TogoVar
BNIP5_chr6_36310761_36341888	36324575	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0079 a0003c0003t0002g0079	1	424	0.0024	-44	c.116 others(61): Show c.1169-429_1169-386delTATATATATATATATATATATATATATA TATATATATATATATA	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11			chr6	TogoVar
BRCA2_chr13_32310508_32405268	32355641	CACCTGAG others(37): Show CACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAA	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18964.hp2 NA19070.hp2 NA18962.hp2 NA18964.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227	3	398	0.0075	-44	c.743 others(61): Show c.7435+357_7435+400delTGAGGTCAGGAGTTCAAGACCAGCCTGG CCAACATAGTGAAACC	BRCA2	ENSG00000139618.18	transcript	ENST00000380152.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
BRINP3_chr1_190092658_190482864	190203750	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	240	0.0042	-44	c.961 others(63): Show c.961+22288_961+22331delATATATATATATATATATATATATAT ATATATATATATATATAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	6/7			chr1	TogoVar
BRWD1_chr21_39180482_39318632	39217045	ATATATTT others(37): Show ATATATTTATATATATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0139 a0001c0001t0041g0139	1	338	0.0030	-44	c.365 others(63): Show c.3659+1063_3659+1106delAAAAAATATATATATATATATATATA TATATATATATAAATATA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
BTBD9_chr6_38163451_38644929	38266605	GGAAAGAA others(37): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02015.hp2 HG02074.hp2 others(14): Show HG01884.hp2 HG02015.hp2 HG02074.hp2 HG02109.hp1 HG02155.hp1 HG02258.hp2 HG02630.hp1 HG02647.hp1 HG02922.hp1 HG02922.hp2 HG03098.hp2 HG03139.hp1 HG03540.hp2 NA18970.hp1 NA18977.hp1 NA19043.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0021 a0001c0001t0053 others(13): Show a0001c0001t0006 a0001c0001t0021 a0001c0001t0053 a0001c0001t0068 a0001c0001t0081 a0001c0001t0143 a0001c0001t0144 a0001c0001t0156 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0165 a0001c0001t0166 a0001c0001t0176 a0001c0001t0177 a0001c0001t0181	a0001c0001t0006g0130 a0001c0001t0021g0088 a0001c0001t0021g0091 others(14): Show a0001c0001t0006g0130 a0001c0001t0021g0088 a0001c0001t0021g0091 a0001c0001t0053g0151 a0001c0001t0068g0062 a0001c0001t0081g0124 a0001c0001t0143g0043 a0001c0001t0144g0042 a0001c0001t0156g0172 a0001c0001t0162g0132 a0001c0001t0163g0096 a0001c0001t0164g0089 a0001c0001t0165g0078 a0001c0001t0166g0135 a0001c0001t0176g0138 a0001c0001t0177g0093 a0001c0001t0181g0087	17	224	0.0759	-44	c.145 others(65): Show c.1455-10133_1455-10090delTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	8/10			chr6	TogoVar
C11orf71_chr11_114393532_114405511	114394184	TTTTCTTT others(37): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0000 a0001c0001t0007g0000	1	422	0.0024	-44	c.57 others(55): Show c.5732_*5775delGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4347		chr11	TogoVar
C11orf87_chr11_109417190_109434167	109431374	AGGCTGTG others(37): Show AGGCTGTGTCTGGGTATAATTTATGTTATCTCATGGTGGCAGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0001 a0001c0001t0025g0001	1	390	0.0026	-44	c.71 others(55): Show c.7148_*7191delGGCTGTGTCTGGGTATAATTTATGTTATCTCATG GTGGCAGAGG	C11orf87	ENSG00000185742.7	transcript	ENST00000327419.7	protein_coding		2208		chr11	TogoVar
C12orf56_chr12_64259762_64395758	64366295	ATATATTA others(37): Show ATATATTATATATTATATACAGTTTATTATATATTATATACAGTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0099 a0003c0004t0003g0099	1	312	0.0032	-44	c.253 others(63): Show c.253-13283_253-13240delAACTGTATATAATATATAATAAACTG TATATAATATATAATATA	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
C1QTNF12_chr1_1237453_1251722	1244753	CCCCCCAC others(37): Show CCCCCCACTCCTCATCCCACTCCTTCCCCCACTCATCTCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0112 a0006c0005t0001g0112	1	328	0.0031	-44	c.178 others(59): Show c.178-300_178-257delAGGAGGGAGATGAGTGGGGGAAGGAGTGGG ATGAGGAGTGGGGG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar

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