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
BANK1_chr4_101785730_102079812	102007070	A A	ATATATAT others(20): Show ATATATATAAATATATATAATATATAAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0005 a0003c0004t0001g0005	1	284	0.0035	27	c.120 others(48): Show c.1207-14436_1207-14435insAATATATATAATATATAATTATAT ATA	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BARHL2_chr1_90706539_90722302	90719504	G G	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG02135.hp1 NA18946.hp2 others(3): Show HG00408.hp1 HG02135.hp1 NA18946.hp2 NA18963.hp1 NA19005.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0005t0001g0089 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0005t0001g0089	6	446	0.0135	27	c.-23 others(38): Show c.-2310_-2309insTTTTTTTTTTTTTTTTTTTTTTTTTTT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2203		chr1	TogoVar
BASP1_chr5_17212631_17281834	17275958	T T	TCTCTCTC others(20): Show TCTCTCTCTCTATCTCTCTCTCTATCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0071 a0001c0001t0039g0071	1	370	0.0027	27	c.68 others(34): Show c.68_*69insATCTCTCTCTCTATCTCCTCTCTCTCT	BASP1	ENSG00000176788.9	transcript	ENST00000322611.4	protein_coding	2/2	69	INFO_REALIGN_3_PRIME	chr5	TogoVar
BATF3_chr1_212681417_212704840	212681420	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	462	0.0022	27	c.53 others(38): Show c.5370_*5371insAAAAAAAAAAAAAAAAAAAAAAAAAAA	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding		4996		chr1	TogoVar
BATF3_chr1_212681417_212704840	212687967	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	462	0.0022	27	c.196 others(42): Show c.196-989_196-988insCTTTCTTTCTTTCTTTCTTTCTTTCTT	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding	2/2			chr1	TogoVar
BAZ1B_chr7_73435406_73527293	73526868	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0191	1	200	0.0050	27	c.-49 others(38): Show c.-4936_-4935insATATATATATATATATATATATTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding		4576		chr7	TogoVar
BAZ1B_chr7_73435406_73527293	73526868	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0199 a0001c0003t0006g0199	1	200	0.0050	27	c.-49 others(38): Show c.-4936_-4935insATATATATATATATATATATATATTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding		4576		chr7	TogoVar
BBC3_chr19_47215824_47236199	47225838	T T	TTGAGAGA others(20): Show TTGAGAGAGGCCAACTCGAGAGATTTCC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	412	0.0024	27	c.465 others(42): Show c.465+699_465+725dupGGAAATCTCTCGAGTTGGCCTCTCTCA	BBC3	ENSG00000105327.18	transcript	ENST00000439096.3	protein_coding	3/3			chr19	TogoVar
BBOX1_chr11_27035815_27132809	27057063	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	318	0.0031	27	c.220 others(42): Show c.220-138_220-137insAAAAAAAAAAAAAAAAAAAAAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8			chr11	TogoVar
BBS2_chr16_56479385_56525024	56480350	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	398	0.0025	27	c.44 others(38): Show c.4410_*4411insTTTTTTTTTTTTTTTTTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4034		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	398	0.0025	27	c.44 others(38): Show c.4408_*4409insTTTTTTTTTTTTTTTTTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CACAAAAA others(20): Show CACAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG04115.hp1 NA19010.hp1 HG03942.hp2 HG04115.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0133 a0001c0001t0001g0206 a0001c0001t0001g0028 a0001c0001t0001g0133 a0001c0001t0001g0206	3	398	0.0075	27	c.44 others(38): Show c.4408_*4409insTTTTTTTTTTTTTTTTTTTTTTTTTGT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BCAS1_chr20_53938541_54075594	54041908	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01257.hp2 HG02698.hp1 others(4): Show HG00140.hp1 HG01257.hp2 HG02698.hp1 HG03654.hp2 HG03669.hp2 NA19066.hp2 NA20752.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0014 a0024	a0001c0001 a0002c0002 a0006c0006 others(2): Show a0001c0001 a0002c0002 a0006c0006 a0014c0014 a0024c0033	a0001c0001t0002 a0002c0002t0001 a0002c0002t0024 others(4): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0024 a0006c0006t0012 a0006c0006t0018 a0014c0014t0003 a0024c0033t0003	a0001c0001t0002g0169 a0002c0002t0001g0211 a0002c0002t0024g0132 others(4): Show a0001c0001t0002g0169 a0002c0002t0001g0211 a0002c0002t0024g0132 a0006c0006t0012g0178 a0006c0006t0018g0320 a0014c0014t0003g0354 a0024c0033t0003g0177	7	364	0.0192	27	c.143 others(46): Show c.143-12937_143-12936insTTTTTTTTTTTTTTTTTTTTTTTTTT T	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	3/12			chr20	TogoVar
BCAS3_chr17_60672851_61397831	60825544	A A	AATTATTT others(20): Show AATTATTTATAATAATTTATAAATAATT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0026 a0003c0001t0001g0026	1	74	0.0135	27	c.476 others(46): Show c.476+17494_476+17520dupTTATTATTTATAATAATTTATAAATA A	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCHE_chr3_165767904_165842423	165840283	T T	TATAGATA others(20): Show TATAGATAGATAGATAGATAGATAGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0002 a0002c0002t0004g0002	1	304	0.0033	27	c.-29 others(38): Show c.-2979_-2978insCATCTATCTATCTATCTATCTATCTAT	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding		2861		chr3	TogoVar
BCHE_chr3_165767904_165842423	165840294	A A	AGATAGAT others(20): Show AGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0054 a0002c0002t0002g0054	1	304	0.0033	27	c.-29 others(38): Show c.-2990_-2989insATCTATCTATCTATCTATCTATCTATC	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding		2872		chr3	TogoVar
BCL11A_chr2_60452194_60558654	60467402	A A	ATGGTGGT others(20): Show ATGGTGGTGGTGGTGGTGATGCTACTGG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0017 a0001c0009t0001g0017	1	262	0.0038	27	c.487 others(44): Show c.487+1329_487+1330insCCAGTAGCATCACCACCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467450	A A	ATGGTGGT others(20): Show ATGGTGGTGATGGTGGTGGTGATGGTGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0073 a0001c0002t0004g0073	1	262	0.0038	27	c.487 others(44): Show c.487+1281_487+1282insCCACCATCACCACCACCATCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467531	A A	ATGGTGGT others(20): Show ATGGTGGTGGTGGTGGTGATGCTACTGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01361.hp1 HG00738.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0007t0002 a0001c0001t0004 a0001c0007t0002	a0001c0001t0004g0078 a0001c0007t0002g0096 a0001c0001t0004g0078 a0001c0007t0002g0096	2	262	0.0076	27	c.487 others(44): Show c.487+1200_487+1201insCCAGTAGCATCACCACCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0096 a0002c0002t0003g0096	1	458	0.0022	27	c.-43 others(38): Show c.-4377_-4376insAAAAAAAAATATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L11_chr2_111115914_111173444	111120979	T T	TGCCGCTG others(20): Show TGCCGCTGCCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0011 a0001c0001t0058g0011	1	398	0.0025	27	c.-21 others(36): Show c.-218_-217insTGCCGCCGCCGCCGCCGCCGCCGCCGC	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding	1/4	2761	INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL2L13_chr22_17633757_17735855	17680511	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0303 a0001c0001t0028g0303	1	306	0.0033	27	c.122 others(44): Show c.122-2699_122-2673dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17717380	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp1 HG02965.hp2 others(2): Show HG02647.hp2 HG02809.hp1 HG02965.hp2 NA18906.hp1 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0003 a0005c0008t0019 a0001c0001t0003 a0005c0008t0019	a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0252 others(2): Show a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0252 a0005c0008t0019g0255 a0005c0008t0019g0256	5	306	0.0163	27	c.601 others(44): Show c.601-9291_601-9290insAAAAAAAAAAAAAAAAAAAAAAAAAAA	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17720154	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0151 a0001c0001t0011g0151	1	306	0.0033	27	c.601 others(44): Show c.601-6521_601-6520insCTTTCTTTCTTTCTTTCTTTCTTTCTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L1_chr20_31659458_31727868	31697892	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTGTTTGTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	186	0.0054	27	c.564 others(46): Show c.564+23762_564+23763insAAAACAAACAAACAAAAAAAAAAAAA A	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31697892	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTGTTTGTTTGTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	186	0.0054	27	c.564 others(46): Show c.564+23762_564+23763insAAACAAACAAACAAAAAAAAAAAAAA A	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31697892	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	186	0.0054	27	c.564 others(46): Show c.564+23762_564+23763insAAAAAAAAAAAAAAAAAAAAAAAAAA A	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2_chr18_63118346_63324769	63169366	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0256 a0001c0001t0059g0256	1	264	0.0038	27	c.586 others(46): Show c.586-40608_586-40607insGAAAGAAAGAAAGAAAGAAAGAAAGA A	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCORL1_chrX_129977635_130063071	130043784	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	203	0.0049	27	c.484 others(46): Show c.4840+4503_4840+4504insATATATATATATATATATATATATTT T	BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chrX	TogoVar
BCR_chr22_23175509_23323037	23185645	G G	GACAGAGC others(20): Show GACAGAGCGAGACACAGTCTCAAAAAAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0265 a0002c0003t0004g0265	1	296	0.0034	27	c.127 others(46): Show c.1279+3408_1279+3434dupCAGAGCGAGACACAGTCTCAAAAAAC A	BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCS1L_chr2_218654683_218668443	218657902	T T	TGATACTG others(20): Show TGATACTGACATTATCACTTCAACGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	358	0.0028	27	c.-18 others(38): Show c.-1891_-1890insGATACTGACATTATCACTTCAACGAAC	BCS1L	ENSG00000074582.15	transcript	ENST00000359273.8	protein_coding		1780		chr2	TogoVar
BDH1_chr3_197504783_197560968	197542521	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01993.hp2 HG02293.hp2 others(4): Show HG00609.hp1 HG01993.hp2 HG02293.hp2 NA18747.hp2 NA18957.hp1 NA18965.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0082 others(2): Show a0001c0001t0007 a0001c0001t0011 a0001c0001t0082 a0001c0001t0083 a0001c0001t0085	a0001c0001t0007g0119 a0001c0001t0011g0056 a0001c0001t0011g0115 others(4): Show a0001c0001t0007g0119 a0001c0001t0011g0056 a0001c0001t0011g0115 a0001c0001t0011g0117 a0001c0001t0082g0118 a0001c0001t0083g0116 a0001c0001t0085g0114	7	319	0.0219	27	c.83+ others(42): Show c.83+3839_83+3840insAAAAAAAAAAAAAAAAAAAAAAAAAAA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	3/7			chr3	TogoVar
BEST3_chr12_69648609_69704303	69680310	C C	CTTCTTTT others(20): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0062 a0001c0004t0001g0062	1	366	0.0027	27	c.482 others(44): Show c.482-1418_482-1417insAAAAAAAAAAAAAAAAAAAAAAAAGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BHLHA9_chr17_1265444_1276815	1275542	G G	GTGGGTGA others(20): Show GTGGGTGAGTGTGTGAGTGTGAGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	442	0.0023	27	c.42 others(38): Show c.4271_*4272insTGGGTGAGTGTGTGAGTGTGAGTGTGT	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		3728		chr17	TogoVar
BICD1_chr12_32101847_32388633	32252029	T T	TTATAATA others(20): Show TTATAATATATATTTATAATAAATATCA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02451.hp2 others(4): Show HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 others(2): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0002t0007 a0001c0005t0009	a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 others(4): Show a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0009g0183 a0001c0001t0010g0161 a0001c0002t0007g0150 a0001c0005t0009g0270	7	290	0.0241	27	c.426 others(46): Show c.426+35595_426+35596insCATATAATATATATTTATAATAAATA T	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCCT others(20): Show GTCTTCCTCCTCCTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0154 a0001c0001t0016g0154	1	290	0.0035	27	c.69 others(38): Show c.6961_*6962insTCTTCCTCCTCCTCTTCTTCTTCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCCT others(20): Show GTCTTCCTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG03139.hp1 HG03710.hp2 others(4): Show HG01496.hp2 HG03139.hp1 HG03710.hp2 NA18959.hp1 NA18966.hp2 NA19004.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0047 a0001c0001t0003 a0001c0001t0047	a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0198 others(4): Show a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0198 a0001c0001t0003g0203 a0001c0001t0003g0213 a0001c0001t0003g0273 a0001c0001t0047g0247	7	290	0.0241	27	c.69 others(38): Show c.6961_*6962insTCTTCCTCTTCTTCTTCTTCTTCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCTT others(20): Show GTCTTCTTCTTCTTCTTCTTATTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	290	0.0035	27	c.69 others(38): Show c.6961_*6962insTCTTCTTCTTCTTCTTCTTATTCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCTT others(20): Show GTCTTCTTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02129.hp2 HG02148.hp1 others(9): Show HG01891.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp2 HG02559.hp1 HG03209.hp1 HG03688.hp2 NA18959.hp2 NA18971.hp1 NA18975.hp1 NA18980.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005	a0001c0001t0001g0059 a0001c0001t0001g0208 a0001c0001t0004g0149 others(9): Show a0001c0001t0001g0059 a0001c0001t0001g0208 a0001c0001t0004g0149 a0001c0001t0006g0160 a0001c0001t0008g0108 a0001c0001t0011g0269 a0001c0001t0020g0217 a0001c0002t0001g0283 a0001c0002t0002g0071 a0001c0002t0005g0001 a0001c0002t0005g0008 a0001c0002t0005g0011	12	290	0.0414	27	c.69 others(38): Show c.6961_*6962insTCTTCTTCTTCTTCTTCTTCTTCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384590	C C	CTTCTTCT others(20): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 NA18950.hp1 NA19002.hp2 others(2): Show HG01358.hp2 NA18950.hp1 NA19002.hp2 NA19063.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0063 a0001c0002t0002g0088 a0001c0002t0002g0243 others(2): Show a0001c0002t0002g0063 a0001c0002t0002g0088 a0001c0002t0002g0243 a0001c0002t0005g0135 a0001c0002t0005g0141	5	290	0.0172	27	c.69 others(38): Show c.6963_*6964insTTCTTCTTCTTCTTCTTCTTCTTCTTA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		958		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384593	C C	CTTCTTCT others(20): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0214 a0001c0002t0020g0214	1	290	0.0035	27	c.69 others(38): Show c.6966_*6967insTTCTTCTTCTTCTTCTTCTTCTTCTTA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		961		chr12	TogoVar
BICD2_chr9_92706363_92769833	92757312	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18980.hp2 HG02698.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0188 a0001c0001t0005g0204 a0001c0001t0005g0188 a0001c0001t0005g0204	2	360	0.0056	27	c.240 others(44): Show c.240+7166_240+7192dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	1/6			chr9	TogoVar
BIN1_chr2_127043032_127112154	127105467	C C	CCCTCCTC others(20): Show CCCTCCTCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18992.hp1 HG06807.hp1 NA18992.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0001 a0001c0003t0001 a0001c0006t0001	a0001c0003t0001g0286 a0001c0006t0001g0285 a0001c0003t0001g0286 a0001c0006t0001g0285	2	344	0.0058	27	c.84+ others(42): Show c.84+1366_84+1392dupAGGAGGAGGAGGAGGAGGAGGAGGAGG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18			chr2	TogoVar
BIRC2_chr11_102342214_102383670	102364139	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	344	0.0029	27	c.112 others(44): Show c.1123+423_1123+424insATATATATATATATATATATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8			chr11	TogoVar
BIRC6_chr2_32352023_32623878	32431181	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0005 a0001c0018t0005	a0001c0018t0005g0183 a0001c0018t0005g0183	1	274	0.0037	27	c.324 others(43): Show c.3248+97_3248+123dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	12/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32440751	T T	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0060 a0001c0008t0003g0060	1	274	0.0037	27	c.381 others(44): Show c.3811-575_3811-549dupATTATTATTATTATTATTATTATTATT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	16/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32440751	T T	TTTTTTAT others(20): Show TTTTTTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0010 a0001c0006t0003g0010	1	274	0.0037	27	c.381 others(44): Show c.3811-576_3811-575insTTTATTATTATTATTATTATTATTATT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	16/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0131 a0001c0003t0003g0131	1	274	0.0037	27	c.475 others(46): Show c.4754-2921_4754-2920insATATATATATATATATATATATATTT T	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0124 a0001c0003t0003g0124	1	274	0.0037	27	c.475 others(46): Show c.4754-2921_4754-2920insATATATATATATATATATATATTTTT T	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461147	C C	CCTCCCCT others(20): Show CCTCCCCTCCCCTCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18999.hp1 NA18955.hp1 NA18999.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0223 a0001c0005t0001g0228 a0001c0005t0001g0223 a0001c0005t0001g0228	2	274	0.0073	27	c.475 others(46): Show c.4754-2034_4754-2033insCCCTCCCCTCCCCTCTCCCCTCCCCT C	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar

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