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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ATRN_chr20_3466018_3656118	3597071	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0004 a0004c0011t0004	a0004c0011t0004g0165 a0004c0011t0004g0165	1	220	0.0046	36	c.346 others(53): Show c.3469+645_3469+646insTATATATATATATATATATATATATATA TATAAATA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	21/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18994.hp1 NA19063.hp1 NA18971.hp1 NA18994.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0107 a0001c0001t0002g0174 a0001c0001t0002g0090 a0001c0001t0002g0107 a0001c0001t0002g0174	3	218	0.0138	36	c.455 others(53): Show c.4557+896_4557+897insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77790990	C C	CTATAAAT others(29): Show CTATAAATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01243.hp1 HG02055.hp1 others(4): Show HG01192.hp1 HG01243.hp1 HG02055.hp1 HG02165.hp1 HG02257.hp2 HG02647.hp1 HG03540.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0003c0006t0001	a0001c0001t0001g0195 a0001c0001t0003g0196 a0001c0001t0004g0192 others(4): Show a0001c0001t0001g0195 a0001c0001t0003g0196 a0001c0001t0004g0192 a0001c0001t0005g0073 a0001c0001t0005g0213 a0001c0001t0008g0077 a0003c0006t0001g0015	7	218	0.0321	36	c.-49 others(47): Show c.-4990_-4989insTATATATATATATATATATATATATATATATTTA TA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding					4775		chrX	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(29): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00423.hp1 HG02056.hp1 HG03710.hp2 others(3): Show HG00423.hp1 HG02056.hp1 HG03710.hp2 NA18612.hp2 NA19065.hp1 NA19079.hp2	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0001 a0015c0014t0002 a0015c0014t0011 others(3): Show a0015c0014t0001 a0015c0014t0002 a0015c0014t0011 a0015c0014t0058 a0015c0014t0059 a0015c0014t0065	a0015c0014t0001g0071 a0015c0014t0002g0060 a0015c0014t0011g0105 others(3): Show a0015c0014t0001g0071 a0015c0014t0002g0060 a0015c0014t0011g0105 a0015c0014t0058g0102 a0015c0014t0059g0210 a0015c0014t0065g0050	6	402	0.0149	36	c.916 others(43): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	p.Gly others(48): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln Arg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361			chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(29): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01167.hp1 HG02258.hp2 HG03831.hp2 others(3): Show HG01167.hp1 HG02258.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp1 NA21309.hp2	a0023 a0036 a0041 a0023 a0036 a0041	a0023c0031 a0023c0041 a0036c0043 others(1): Show a0023c0031 a0023c0041 a0036c0043 a0041c0054	a0023c0031t0003 a0023c0031t0006 a0023c0041t0006 others(2): Show a0023c0031t0003 a0023c0031t0006 a0023c0041t0006 a0036c0043t0006 a0041c0054t0076	a0023c0031t0003g0145 a0023c0031t0006g0371 a0023c0041t0006g0378 others(3): Show a0023c0031t0003g0145 a0023c0031t0006g0371 a0023c0041t0006g0378 a0023c0041t0006g0383 a0036c0043t0006g0369 a0041c0054t0076g0153	6	402	0.0149	36	c.915 others(43): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	p.Gln others(49): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGl nGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361			chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105664498	A A	AATATATG others(29): Show AATATATGTATAATATATATATACATATGTATAATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	252	0.0040	36	c.578 others(51): Show c.578+532_578+567dupATATTATACATATGTATATATATATTATAC ATATAT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCC others(29): Show TCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0139 a0001c0001t0016g0139	1	252	0.0040	36	c.356 others(55): Show c.356-27137_356-27136insGAGGAAGGAAGGAAGGAGGGAGGGAG GGAGGGAAGG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCC others(29): Show TCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18970.hp1 HG01934.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0027 a0001c0001t0011g0012 a0001c0001t0005g0027 a0001c0001t0011g0012	2	252	0.0079	36	c.356 others(55): Show c.356-27137_356-27136insGAGGGAGGAAGGAAGGAAGGAGGGAG GGAGGGAAGG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCC others(29): Show TCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03831.hp1 HG01891.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0058 a0001c0001t0045 a0001c0001t0058	a0001c0001t0045g0190 a0001c0001t0058g0018 a0001c0001t0045g0190 a0001c0001t0058g0018	2	252	0.0079	36	c.356 others(55): Show c.356-27137_356-27136insGAGGAAGGAAGGAAGGAAGGAGGGAG GGAGGGAAGG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCC others(29): Show TCCTTCCCTCCCTCCTTCCTTCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 NA19000.hp1 HG00280.hp1 HG00738.hp1 NA19000.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0010 a0001c0001t0013 a0004c0013t0036 a0001c0001t0010 a0001c0001t0013 a0004c0013t0036	a0001c0001t0010g0095 a0001c0001t0013g0236 a0004c0013t0036g0107 a0001c0001t0010g0095 a0001c0001t0013g0236 a0004c0013t0036g0107	3	252	0.0119	36	c.356 others(55): Show c.356-27137_356-27136insGAGGGAGGAAGGAAGGAAGGAAGGAG GGAGGGAAGG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCT others(29): Show TCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0130 a0001c0001t0021g0130	1	252	0.0040	36	c.356 others(55): Show c.356-27137_356-27136insGAGGAAGGAGGGAGGGAGGGAGGGAG GGAAGGAAGG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCT others(29): Show TCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18971.hp2 NA18994.hp1 others(3): Show HG00558.hp1 NA18971.hp2 NA18994.hp1 NA19000.hp2 NA19009.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0062 a0001c0001t0001 a0001c0001t0003 a0001c0001t0062	a0001c0001t0001g0005 a0001c0001t0003g0004 a0001c0001t0003g0006 others(3): Show a0001c0001t0001g0005 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0030 a0001c0001t0003g0090 a0001c0001t0062g0007	6	252	0.0238	36	c.356 others(55): Show c.356-27137_356-27136insGAGGAAGGAAGGAAGGAGGGAGGGAG GGAAGGAAGG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCT others(29): Show TCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01981.hp2 HG02056.hp2 others(4): Show HG01943.hp1 HG01981.hp2 HG02056.hp2 HG02523.hp1 HG02622.hp1 NA19056.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0035	a0001c0001t0002g0153 a0001c0001t0004g0203 a0001c0001t0006g0001 others(4): Show a0001c0001t0002g0153 a0001c0001t0004g0203 a0001c0001t0006g0001 a0001c0001t0008g0089 a0001c0001t0012g0115 a0001c0001t0014g0166 a0001c0001t0035g0151	7	252	0.0278	36	c.356 others(55): Show c.356-27137_356-27136insGAGGAAGGAAGGAAGGAAGGAGGGAG GGAAGGAAGG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCT others(29): Show TCCTTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0069 a0001c0001t0016g0069	1	252	0.0040	36	c.356 others(55): Show c.356-27137_356-27136insGAGGAAGGAAGGAAGGAGGGAGGGAA GGAAGGAAGG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105731748	A A	AAAAAGAA others(29): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19074.hp2 HG01109.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0026 a0001c0001t0008 a0001c0001t0026	a0001c0001t0008g0249 a0001c0001t0026g0189 a0001c0001t0008g0249 a0001c0001t0026g0189	2	252	0.0079	36	c.355 others(55): Show c.355+56855_355+56856insCTTTCTTTTCTCTTTTCTTTTCTTTT CTTTTCTTTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105733864	A A	ATCCACCC others(29): Show ATCCACCCAACCACCCATCCATCCACCCCTCCATCCG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0124	1	252	0.0040	36	c.355 others(55): Show c.355+54739_355+54740insCGGATGGAGGGGTGGATGGATGGGTG GTTGGGTGGA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105869468	A A	AGGGGGGG others(29): Show AGGGGGGGGGAAGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0007 a0007c0009t0007	a0007c0009t0007g0096 a0007c0009t0007g0096	1	252	0.0040	36	c.250 others(53): Show c.250+6343_250+6344insCCCCCCCCCCCCCCCCCCCCCCCCCTTC CCCCCCCC		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11						chr7	TogoVar
AURKB_chr17_8199734_8215575	8214581	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	428	0.0023	36	c.-40 others(47): Show c.-4078_-4077insATATATATATATATATATATATATATATATATAT AT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4007		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(29): Show TATATATATATATATATATATACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18962.hp1 NA18747.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0012 a0001c0001t0001g0023	2	428	0.0047	36	c.-41 others(47): Show c.-4104_-4103insGTGTGTGTGTGTGTGTATATATATATATATATAT AT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(29): Show TATATATATATATATATATATATACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	428	0.0023	36	c.-41 others(47): Show c.-4104_-4103insGTGTGTGTGTGTGTATATATATATATATATATAT AT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(29): Show TATATATATATATATATATATATATACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03453.hp1 NA18952.hp2 others(2): Show HG03130.hp1 HG03453.hp1 NA18952.hp2 NA18979.hp2 NA18995.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0010 a0002c0002t0001g0014 a0001c0001t0001g0010 a0002c0002t0001g0014	5	428	0.0117	36	c.-41 others(47): Show c.-4104_-4103insGTGTGTGTGTGTATATATATATATATATATATAT AT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(29): Show TATATATATATATATATATATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01167.hp2 others(1): Show HG00099.hp1 HG00323.hp2 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0003 a0001c0001t0001g0005	4	428	0.0094	36	c.-41 others(47): Show c.-4104_-4103insGTGTGTGTGTATATATATATATATATATATATAT AT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01515.hp2 others(1): Show HG01069.hp2 HG01071.hp1 HG01515.hp2 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0006 a0002c0002t0001g0009 a0001c0003t0001g0006 a0002c0002t0001g0009	4	428	0.0094	36	c.-41 others(47): Show c.-4104_-4103insGTATATATATATATATATATATATATATATATAT AT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(29): Show TATATATATATATATATATATATGTATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	428	0.0023	36	c.-41 others(47): Show c.-4104_-4103insGTGTGTGTGTATACATATATATATATATATATAT AT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4033		chr17	TogoVar
AVEN_chr15_33861227_34044204	33985355	G G	GAAGGAAC others(29): Show GAAGGAACACTGAGCTGAGTGTTCCTTTGTTACCAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00438.hp2 others(85): Show HG00140.hp1 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp2 HG01106.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01978.hp2 HG02015.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp2 NA18952.hp2 NA18953.hp2 NA18968.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp2 NA18992.hp2 NA18993.hp2 NA19007.hp2 NA19011.hp2 NA19043.hp2 NA19060.hp2 NA19064.hp1 NA19079.hp2 NA19082.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0007 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0002c0002t0001 a0003c0003t0003 a0005c0007t0003 a0006c0006t0002	a0001c0001t0001g0037 a0001c0001t0001g0085 a0001c0001t0001g0110 others(85): Show a0001c0001t0001g0037 a0001c0001t0001g0085 a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0162 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0232 a0001c0001t0002g0244 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0256 a0001c0001t0004g0142 a0001c0001t0004g0150 a0001c0001t0004g0192 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0005g0194 a0001c0001t0006g0197 a0002c0002t0001g0161 a0002c0002t0001g0219 a0002c0002t0001g0239 a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0257 a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0008 a0003c0003t0003g0011 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0003t0003g0014 a0003c0003t0003g0015 a0005c0007t0003g0006 a0005c0007t0003g0009 a0005c0007t0003g0010 a0006c0006t0002g0234	88	266	0.3308	36	c.445 others(55): Show c.445+17641_445+17676dupTCTGGTAACAAAGGAACACTCAGCTC AGTGTTCCTT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVL9_chr7_32490489_32593726	32503373	T T	TATATATA others(29): Show TATATATATATAGATATAGAGAGATATACACACACAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0162 a0001c0004t0021g0162	1	330	0.0030	36	c.93+ others(51): Show c.93+7572_93+7573insTATATATATAGATATAGAGAGATATACACA CACACA		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AXIN1_chr16_282440_357723	285966	T T	TCCCAACC others(29): Show TCCCAACCCCAACCCCAACCCCAACCCCAACCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	378	0.0027	36	c.21 others(47): Show c.2155_*2156insGTTGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTG GG		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding					1473		chr16	TogoVar
AXIN1_chr16_282440_357723	326394	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0048 a0001c0003t0003g0048	1	378	0.0027	36	c.879 others(55): Show c.879-11712_879-11711insGTGTGTATATATATATATATATATAT ATATATATAT		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10						chr16	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGGCCC others(29): Show TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	391	0.0026	36	c.36 others(47): Show c.3604_*3605insGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG AC		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					3464		chr19	TogoVar
B3GALT1_chr2_167288001_167879045	167876002	C C	CGTATATA others(29): Show CGTATATATATATATACGTATATATATATATATACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	118	0.0085	36	c.59 others(47): Show c.5982_*5983insGTATATATATATATACGTATATATATATATATAC GT		B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding					1958		chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167876003	G G	GTATATAT others(29): Show GTATATATATATATACGTATATATATATATATACGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG06807.hp1 NA20905.hp2 HG02132.hp2 HG06807.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0068 a0001c0001t0003g0028 a0001c0001t0001g0007 a0001c0001t0001g0068 a0001c0001t0003g0028	3	118	0.0254	36	c.59 others(47): Show c.5983_*5984insTATATATATATATACGTATATATATATATATACG TA		B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding					1959		chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167876003	G G	GTATATAT others(29): Show GTATATATATATATATATACATATATATATATACGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	118	0.0085	36	c.59 others(47): Show c.5983_*5984insTATATATATATATATATACATATATATATATACG TA		B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding					1959		chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167876053	G G	GTATATAT others(29): Show GTATATATATATATATACGTATATATATATATACGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 NA20752.hp1 HG00558.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0062 a0001c0001t0006g0040 a0001c0001t0001g0062 a0001c0001t0006g0040	2	118	0.0170	36	c.60 others(47): Show c.6033_*6034insTATATATATATATATACGTATATATATATATACG TA		B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding					2009		chr2	TogoVar
B3GAT2_chr6_70851679_70962060	70855050	T T	TCATATAC others(29): Show TCATATACATATACATATACATATACATATACATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 NA18981.hp1 NA19002.hp2 HG03579.hp1 NA18981.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0032 a0001c0002t0007 a0001c0001t0003 a0001c0001t0032 a0001c0002t0007	a0001c0001t0003g0132 a0001c0001t0032g0004 a0001c0002t0007g0242 a0001c0001t0003g0132 a0001c0001t0032g0004 a0001c0002t0007g0242	3	316	0.0095	36	c.65 others(47): Show c.6577_*6612dupTATATGTATATGTATATGTATATGTATATGTATA TG		B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding					1628		chr6	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	268	0.0037	36	c.-38 others(47): Show c.-3878_-3877insTATATATATATATATATATATATATATATTTTTT TT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 NA18964.hp2 NA19058.hp2 HG00621.hp1 NA18964.hp2 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0008 a0001c0001t0001 a0002c0002t0002 a0002c0002t0008	a0001c0001t0001g0136 a0002c0002t0002g0126 a0002c0002t0008g0145 a0001c0001t0001g0136 a0002c0002t0002g0126 a0002c0002t0008g0145	3	268	0.0112	36	c.-38 others(47): Show c.-3878_-3877insTATATATATATATATATATATATTTTTTTTTTTT TT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(29): Show ATATATATATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0173	1	268	0.0037	36	c.-38 others(47): Show c.-3878_-3877insTATATATATATATATATATATTTTTTTTTTTTTT TT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(29): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02818.hp1 HG02165.hp1 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0005g0201 a0002c0002t0002g0111 a0001c0001t0005g0201 a0002c0002t0002g0111	2	268	0.0075	36	c.-38 others(47): Show c.-3878_-3877insTATATATATATATATATATTTTTTTTTTTTTTTT TT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(29): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02055.hp2 NA18954.hp2 HG02027.hp2 HG02055.hp2 NA18954.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0086 a0001c0001t0001g0121 a0002c0002t0002g0160 a0001c0001t0001g0086 a0001c0001t0001g0121 a0002c0002t0002g0160	3	268	0.0112	36	c.-38 others(47): Show c.-3878_-3877insTATATATATATATATATTTTTTTTTTTTTTTTTT TT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATTATA others(29): Show ATATTATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0083 a0002c0002t0008g0083	1	268	0.0037	36	c.-38 others(47): Show c.-3878_-3877insTATTATATATATATATATATTTTTTTTTTTTTTT TT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG02109.hp1 others(5): Show HG00140.hp2 HG00639.hp1 HG02109.hp1 HG02257.hp2 HG02647.hp1 HG02976.hp2 HG03239.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0002c0002t0002	a0001c0001t0001g0256 a0001c0001t0005g0200 a0001c0001t0007g0018 others(5): Show a0001c0001t0001g0256 a0001c0001t0005g0200 a0001c0001t0007g0018 a0002c0002t0002g0030 a0002c0002t0002g0095 a0002c0002t0002g0221 a0002c0002t0002g0230 a0002c0002t0002g0266	8	268	0.0299	36	c.106 others(55): Show c.1065-1135_1065-1134insTATATATATATATATATATATATATA TATATATATA		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	83003024	C C	CCGCCCTC others(29): Show CCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0148 a0001c0001t0012g0148	1	266	0.0038	36	c.459 others(53): Show c.459+2090_459+2091insAGCTCAGGAATCCCACACGCGGAGGGCG GGAGGGCG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003301	C C	CCTCCGCG others(29): Show CCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03486.hp1 HG03453.hp1 HG03486.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0002 a0004c0017t0002	a0004c0017t0002g0136 a0004c0017t0002g0137 a0004c0017t0002g0136 a0004c0017t0002g0137	2	266	0.0075	36	c.459 others(53): Show c.459+1813_459+1814insAGTGGGAGGGCGGGCTCAGGAATCCCAC ACGCGGAG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003388	G G	GTCCGCGT others(29): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 HG02886.hp1 others(3): Show HG01243.hp2 HG02559.hp1 HG02886.hp1 HG03225.hp2 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0001t0017 a0001c0011t0001 others(2): Show a0001c0001t0002 a0001c0001t0017 a0001c0011t0001 a0001c0011t0010 a0001c0011t0017	a0001c0001t0002g0178 a0001c0001t0017g0177 a0001c0011t0001g0144 others(3): Show a0001c0001t0002g0178 a0001c0001t0017g0177 a0001c0011t0001g0144 a0001c0011t0010g0146 a0001c0011t0010g0147 a0001c0011t0017g0145	6	266	0.0226	36	c.459 others(53): Show c.459+1726_459+1727insGGGCGGGAGGGCGGGCTCAGGAATCCCA CACGCGGA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004077	G G	GTCCGCGT others(29): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGGCC	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0031 a0001c0004t0031	a0001c0004t0031g0035 a0001c0004t0031g0035	1	266	0.0038	36	c.459 others(53): Show c.459+1037_459+1038insGGCCGGGAGGGCGGGCTCAGGAATCCCA CACGCGGA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004156	G G	GTCCGCGT others(29): Show GTCCGCGTGTGGGATCCCTGAGCCCGCCCTCCCGCCC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0013 a0002c0009t0013	a0002c0009t0013g0087 a0002c0009t0013g0087	1	266	0.0038	36	c.459 others(51): Show c.459+958_459+959insGGGCGGGAGGGCGGGCTCAGGGATCCCACA CGCGGA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004156	G G	GTCCGCGT others(29): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG01361.hp1 others(4): Show HG00408.hp1 HG00438.hp1 HG01361.hp1 HG02015.hp2 HG02132.hp2 HG02165.hp2 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0014 others(2): Show a0001c0001 a0001c0002 a0001c0014 a0002c0005 a0002c0009	a0001c0001t0002 a0001c0001t0032 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0001t0032 a0001c0002t0002 a0001c0014t0001 a0002c0005t0003 a0002c0009t0003	a0001c0001t0002g0058 a0001c0001t0032g0162 a0001c0002t0002g0095 others(4): Show a0001c0001t0002g0058 a0001c0001t0032g0162 a0001c0002t0002g0095 a0001c0014t0001g0012 a0002c0005t0003g0056 a0002c0005t0003g0057 a0002c0009t0003g0090	7	266	0.0263	36	c.459 others(51): Show c.459+923_459+958dupGGGCGGGAGGGCGGGCTCAGGAATCCCACA CGCGGA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004186	C C	CACCGCCC others(29): Show CACCGCCCTCCGCGTGTGGGATTCCTGAGCCCGCCCT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0086 a0001c0002t0002g0086	1	266	0.0038	36	c.459 others(51): Show c.459+928_459+929insAGGGCGGGCTCAGGAATCCCACACGCGGAG GGCGGT		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004215	C C	CCGCCCTC others(29): Show CCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 HG02886.hp1 others(3): Show HG01243.hp2 HG02559.hp1 HG02886.hp1 HG03225.hp2 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0001t0017 a0001c0011t0001 others(2): Show a0001c0001t0002 a0001c0001t0017 a0001c0011t0001 a0001c0011t0010 a0001c0011t0017	a0001c0001t0002g0178 a0001c0001t0017g0177 a0001c0011t0001g0144 others(3): Show a0001c0001t0002g0178 a0001c0001t0017g0177 a0001c0011t0001g0144 a0001c0011t0010g0146 a0001c0011t0010g0147 a0001c0011t0017g0145	6	266	0.0226	36	c.459 others(51): Show c.459+899_459+900insAGCTCAGGAATCCCACACGCGGAGGGCGGG AGGGCG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004235	G G	GTCCGCGT others(29): Show GTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACCC	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0031 a0001c0004t0031	a0001c0004t0031g0035 a0001c0004t0031g0035	1	266	0.0038	36	c.459 others(51): Show c.459+879_459+880insGGGTGGGAGGGCGAGCTCAGGAATCCCACA CGCGGA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar

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