Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0240 a0001c0001t0027g0240	1	267	0.0038	48	c.42 others(59): Show c.4283_*4284insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GGAGGGAGGGAGGG		ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding					1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 NA18966.hp1 HG03239.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0024 a0001c0002 a0001c0024	a0001c0002t0001 a0001c0024t0001 a0001c0002t0001 a0001c0024t0001	a0001c0002t0001g0108 a0001c0024t0001g0183 a0001c0002t0001g0108 a0001c0024t0001g0183	2	267	0.0075	48	c.42 others(59): Show c.4283_*4284insAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAG GGAGGGAGGGAGGG		ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding					1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG03098.hp1 NA19010.hp2 HG00408.hp1 HG03098.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0162 a0001c0002t0001g0138 a0001c0002t0001g0181 a0001c0001t0005g0162 a0001c0002t0001g0138 a0001c0002t0001g0181	3	267	0.0112	48	c.42 others(59): Show c.4283_*4284insAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAG GGAGGGAGGGAGGG		ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding					1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 NA19066.hp1 NA19077.hp2 HG02165.hp1 NA19066.hp1 NA19077.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0019 a0001c0002 a0004c0019	a0001c0002t0001 a0004c0019t0001 a0001c0002t0001 a0004c0019t0001	a0001c0002t0001g0009 a0001c0002t0001g0215 a0004c0019t0001g0114 a0001c0002t0001g0009 a0001c0002t0001g0215 a0004c0019t0001g0114	3	267	0.0112	48	c.42 others(59): Show c.4283_*4284insAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGG		ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding					1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01516.hp2 HG02258.hp1 others(4): Show HG01261.hp1 HG01516.hp2 HG02258.hp1 HG02280.hp1 NA18995.hp1 NA19065.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0038 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0038 a0001c0002t0001 a0001c0004t0007	a0001c0001t0001g0045 a0001c0001t0001g0203 a0001c0001t0005g0035 others(4): Show a0001c0001t0001g0045 a0001c0001t0001g0203 a0001c0001t0005g0035 a0001c0001t0038g0007 a0001c0002t0001g0071 a0001c0002t0001g0185 a0001c0004t0007g0226	7	267	0.0262	48	c.42 others(59): Show c.4283_*4284insAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGG		ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding					1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG02135.hp1 HG02148.hp1 others(3): Show HG01123.hp1 HG02135.hp1 HG02148.hp1 NA18950.hp1 NA18957.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0031 a0001c0002t0001 a0001c0001t0001 a0001c0001t0031 a0001c0002t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0031g0057 others(2): Show a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0031g0057 a0001c0002t0001g0011 a0001c0002t0001g0131	6	267	0.0225	48	c.42 others(59): Show c.4283_*4284insAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGG		ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding					1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(41): Show AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02165.hp2 HG02809.hp2 HG00423.hp1 HG02165.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0009 a0001c0001t0001 a0001c0004t0009	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0004t0009g0239 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0004t0009g0239	3	267	0.0112	48	c.42 others(59): Show c.4283_*4284insAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGG		ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding					1653		chrX	TogoVar
ATP5MC2_chr12_53660170_53681083	53676323	T T	TGGACTGC others(41): Show TGGACTGCGGTTTGGTCTGTACCGCGGACTGCGGTTTGGTCTGTACCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02717.hp2 others(3): Show HG01884.hp1 HG01891.hp1 HG02717.hp2 HG02896.hp1 HG03098.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0119 a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0119	6	418	0.0144	48	c.-30 others(57): Show c.-303_-302insGCGGTACAGACCAAACCGCAGTCCGCGGTACAGACC AAACCGCAGTCC		ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding					241		chr12	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718682	G G	GTGCAGTC others(41): Show GTGCAGTCACGGATGTCTGCGGAGGGAGACGTCCAGGAAGGAATGGGGC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02129.hp1 others(4): Show HG01168.hp1 HG01169.hp2 HG02129.hp1 HG02451.hp1 HG02486.hp2 HG02965.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0020 a0002c0002 a0001c0001 a0001c0020 a0002c0002	a0001c0001t0001 a0001c0020t0001 a0002c0002t0001 a0001c0001t0001 a0001c0020t0001 a0002c0002t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0337 others(4): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0337 a0001c0020t0001g0036 a0002c0002t0001g0012 a0002c0002t0001g0018 a0002c0002t0001g0023	7	376	0.0186	48	c.214 others(67): Show c.2140-2802_2140-2801insGCCCCATTCCTTCCTGGACGTCTCCC TCCGCAGACATCCGTGACTGCA		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21						chr7	TogoVar
ATP6V1H_chr8_53710543_53848245	53819609	T T	TGTATATA others(41): Show TGTATATACATATATACATATGTATATACAAATGTATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18983.hp2 NA19077.hp1 others(1): Show HG02083.hp2 NA18983.hp2 NA19077.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0076	4	286	0.0140	48	c.307 others(65): Show c.307-2127_307-2080dupGTATATACATATATACATTTGTATATAC ATATGTATATATGTATATAC		ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	4/13						chr8	TogoVar
ATP8A2_chr13_25366974_26030851	25465737	T T	TTCTTTCT others(41): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0089 a0001c0004t0005g0089	1	122	0.0082	48	c.77- others(63): Show c.77-3238_77-3237insTTTCTTTCTTTCTTTCTTTCTTTCCCTCCC TCCCTCCCTCCCTCCCTC		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25465748	C C	CCTCCCTC others(41): Show CCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTCTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA20129.hp2 NA20300.hp2 HG02280.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0008 a0001c0001t0050 a0001c0009t0037 a0001c0001t0008 a0001c0001t0050 a0001c0009t0037	a0001c0001t0008g0073 a0001c0001t0050g0025 a0001c0009t0037g0008 a0001c0001t0008g0073 a0001c0001t0050g0025 a0001c0009t0037g0008	3	122	0.0246	48	c.77- others(63): Show c.77-3226_77-3225insCCTCCCTCCCTCCCTCCCTCCCTCTCTCTC TCTCTCTCTCTCTTTCTC		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57756291	G G	GTATATAT others(41): Show GTATATATATATACATATATATGTATATATATATATATACATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0055 a0001c0001t0004g0055	1	314	0.0032	48	c.-25 others(67): Show c.-25-24460_-25-24459insTATATATATGTATATATATATATATA CATATATATGTATATATATATA		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27						chr18	TogoVar
ATP9A_chr20_51591514_51773390	51635802	G G	GAGGAAGG others(41): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0085 a0001c0003t0012g0085	1	312	0.0032	48	c.166 others(67): Show c.1668+3540_1668+3541insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCT		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27						chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(41): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG04184.hp2 HG00099.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0080 a0001c0001t0002g0079 a0001c0001t0001g0080 a0001c0001t0002g0079	2	298	0.0067	48	c.119 others(65): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79145317	T T	TGCTGGCG others(41): Show TGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG04204.hp1 HG02109.hp2 HG04204.hp1	a0001 a0001	a0001c0038 a0001c0039 a0001c0038 a0001c0039	a0001c0038t0001 a0001c0039t0002 a0001c0038t0001 a0001c0039t0002	a0001c0038t0001g0265 a0001c0039t0002g0266 a0001c0038t0001g0265 a0001c0039t0002g0266	2	298	0.0067	48	c.726 others(65): Show c.726+1489_726+1536dupGGCTGCATGTCGGGGGAGCTGGCGGTGT GCAGAGTGACTGAAGGTGCA		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	6/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115621276	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0118 a0001c0001t0035g0118	1	128	0.0078	48	c.379 others(69): Show c.3795+71741_3795+71742insTATATATATATATATATATATATA TATATAGAGAGAGAGAGAGAGAGA		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATR_chr3_142444235_142583733	142496322	A A	ATATACAT others(41): Show ATATACATATATATATATATGTATATATATATACATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0025 a0001c0004t0001g0025	1	322	0.0031	48	c.589 others(63): Show c.5898+38_5898+39insCATATATATATACATGTATATATATATACA TATATATATATATGTATA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46						chr3	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(41): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00609.hp1 HG02040.hp2 HG02922.hp2 others(2): Show HG00609.hp1 HG02040.hp2 HG02922.hp2 HG03130.hp1 NA19003.hp2	a0018 a0018	a0018c0024 a0018c0060 a0018c0024 a0018c0060	a0018c0024t0002 a0018c0024t0010 a0018c0024t0069 others(1): Show a0018c0024t0002 a0018c0024t0010 a0018c0024t0069 a0018c0060t0009	a0018c0024t0002g0072 a0018c0024t0002g0092 a0018c0024t0010g0035 others(2): Show a0018c0024t0002g0072 a0018c0024t0002g0092 a0018c0024t0010g0035 a0018c0024t0069g0169 a0018c0060t0009g0160	5	402	0.0124	48	c.916 others(55): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGC	p.Gly others(60): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln GlnGlnGlnGlnArg	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(41): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02723.hp1 HG02965.hp2 HG02723.hp1 HG02965.hp2	a0035 a0035	a0035c0040 a0035c0040	a0035c0040t0006 a0035c0040t0037 a0035c0040t0006 a0035c0040t0037	a0035c0040t0006g0365 a0035c0040t0037g0314 a0035c0040t0006g0365 a0035c0040t0037g0314	2	402	0.0050	48	c.915 others(55): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAG	p.Gln others(61): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGl nGlnGlnGlnGlnGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361			chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105664575	G G	GTGTGTGT others(41): Show GTGTGTGTATGTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02083.hp2 HG03471.hp2 others(1): Show HG00558.hp1 HG02083.hp2 HG03471.hp2 NA18962.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0008 a0001c0001t0043 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0043 a0002c0002t0030	a0001c0001t0003g0090 a0001c0001t0008g0015 a0001c0001t0043g0105 others(1): Show a0001c0001t0003g0090 a0001c0001t0008g0015 a0001c0001t0043g0105 a0002c0002t0030g0212	4	252	0.0159	48	c.578 others(63): Show c.578+490_578+491insTATATATATATATATATATATATATATATA TATACACACATACACACA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105664575	G G	GTGTGTGT others(41): Show GTGTGTGTATGTGTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	252	0.0040	48	c.578 others(63): Show c.578+490_578+491insTATATATATATATATATATATATATATATA TACACACACATACACACA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727750	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATACACATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0229 a0001c0001t0057g0229	1	252	0.0040	48	c.355 others(67): Show c.355+60853_355+60854insCATATATATATATATATATGTGTATA TATATATATATATATATATATA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105733753	T T	TCCTTCCA others(41): Show TCCTTCCATCCATCCACCCAACCACCCATCCATCCATCCATCCATCCAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0202 a0001c0001t0007g0202	1	252	0.0040	48	c.355 others(67): Show c.355+54850_355+54851insGTGGATGGATGGATGGATGGATGGGT GGTTGGGTGGATGGATGGAAGG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105733865	T T	TCCATCCA others(41): Show TCCATCCATCCATCCATCCATGCTTCCATCCATCCACCCATCCACCCAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0223 a0001c0001t0007g0223	1	252	0.0040	48	c.355 others(67): Show c.355+54738_355+54739insGTGGGTGGATGGGTGGATGGATGGAA GCATGGATGGATGGATGGATGG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105733865	T T	TCCATCCA others(41): Show TCCATCCATCCATCCATCTATGCTTCCATCCATCCACCCATCCACCCAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03209.hp2 NA18943.hp2 others(3): Show HG02572.hp1 HG03209.hp2 NA18943.hp2 NA19009.hp2 NA19010.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 a0001c0001t0034 a0001c0001t0042	a0001c0001t0001g0185 a0001c0001t0003g0050 a0001c0001t0009g0103 others(3): Show a0001c0001t0001g0185 a0001c0001t0003g0050 a0001c0001t0009g0103 a0001c0001t0017g0113 a0001c0001t0034g0068 a0001c0001t0042g0161	6	252	0.0238	48	c.355 others(67): Show c.355+54738_355+54739insGTGGGTGGATGGGTGGATGGATGGAA GCATAGATGGATGGATGGATGG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
AURKB_chr17_8199734_8215575	8214581	G G	GATATATA others(41): Show GATATATATATATATATATATACATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG03239.hp1 HG02738.hp2 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0071 a0001c0003t0001g0006 a0001c0003t0001g0071	2	428	0.0047	48	c.-40 others(59): Show c.-4078_-4077insATATATATATATATATATATATATATGTATATAT ATATATATATATAT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4007		chr17	TogoVar
AUTS2_chr7_69593475_70798506	70477895	G G	GAAAAGAC others(41): Show GAAAAGACTTTGTTCTTTCACAATCCTGCTGCTTTTCCACCATCCTCCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00597.hp1 others(50): Show HG00280.hp1 HG00280.hp2 HG00597.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01952.hp2 HG02055.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG04199.hp1 NA18612.hp2 NA18952.hp2 NA19030.hp2 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0002c0002 a0002c0010 a0003c0006 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0003t0008 a0001c0003t0027 a0001c0004t0012 a0001c0004t0013 a0001c0005t0030 a0001c0007t0006 a0001c0008t0017 a0002c0002t0001 a0002c0002t0024 a0002c0002t0026 a0002c0002t0031 a0002c0002t0036 a0002c0010t0033 a0003c0006t0003 a0004c0009t0001	a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0033 others(50): Show a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0002g0047 a0001c0001t0003g0031 a0001c0001t0003g0061 a0001c0001t0003g0068 a0001c0001t0003g0076 a0001c0001t0004g0048 a0001c0001t0004g0054 a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0005g0028 a0001c0001t0006g0010 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0014g0070 a0001c0001t0015g0001 a0001c0001t0016g0002 a0001c0001t0018g0003 a0001c0001t0019g0075 a0001c0001t0020g0029 a0001c0001t0021g0060 a0001c0001t0022g0032 a0001c0001t0023g0072 a0001c0001t0025g0050 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0003t0008g0039 a0001c0003t0008g0069 a0001c0003t0027g0009 a0001c0004t0012g0024 a0001c0004t0013g0025 a0001c0005t0030g0013 a0001c0007t0006g0027 a0001c0008t0017g0046 a0002c0002t0001g0057 a0002c0002t0024g0059 a0002c0002t0026g0011 a0002c0002t0031g0007 a0002c0002t0036g0017 a0002c0010t0033g0014 a0003c0006t0003g0034 a0004c0009t0001g0043	53	76	0.6974	48	c.690 others(67): Show c.690+42116_690+42117insAAGACTTTGTTCTTTCACAATCCTGC TGCTTTTCCACCATCCTCCAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70579244	T T	TAAAAAAA others(41): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0021 a0001c0001t0028g0021	1	76	0.0132	48	c.691 others(69): Show c.691-119307_691-119306insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	G G	GGTGTGTG others(41): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0092 a0002c0002t0002g0092	1	446	0.0022	48	c.287 others(63): Show c.287+691_287+738dupACACACACACACACACACACACACACACAC ACACACACACACACACAC		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2						chr10	TogoVar
B3GALT1_chr2_167288001_167879045	167875969	A A	ATATATAT others(41): Show ATATATATATATACACGTATATATATATATACGTATATATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG02004.hp1 HG03831.hp2 others(1): Show HG00741.hp1 HG02004.hp1 HG03831.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0050 a0001c0001t0007 a0001c0001t0050	a0001c0001t0007g0042 a0001c0001t0007g0102 a0001c0001t0007g0116 others(1): Show a0001c0001t0007g0042 a0001c0001t0007g0102 a0001c0001t0007g0116 a0001c0001t0050g0118	4	118	0.0339	48	c.59 others(59): Show c.5949_*5950insTATATATATATACACGTATATATATATATACGTA TATATATATATACG		B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding					1925		chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167876037	A A	ATATATAT others(41): Show ATATATATATATATACGTATATATATATATACGTATATATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0100 a0001c0001t0007g0100	1	118	0.0085	48	c.60 others(59): Show c.6017_*6018insTATATATATATATACGTATATATATATATACGTA TATATATATATACG		B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding					1993		chr2	TogoVar
B3GNTL1_chr17_82937149_83056770	82970514	T T	TCCTCCGC others(41): Show TCCTCCGCACCCAGTGTGGACATGACCTCCCCACCCAGCGTGGCCGCGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0017 a0001c0006t0001g0017	1	266	0.0038	48	c.460 others(65): Show c.460-4769_460-4768insTCGCGGCCACGCTGGGTGGGGAGGTCAT GTCCACACTGGGTGCGGAGG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970520	C C	CCACCCAG others(41): Show CCACCCAGCGTGGCCGCGACCTCCCCACCCGGCGTGGCCGCGACCTCCG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG01069.hp1 others(26): Show HG00621.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01261.hp1 HG01346.hp2 HG02132.hp1 HG02683.hp1 HG03130.hp1 HG03195.hp2 HG06807.hp2 NA18747.hp1 NA18945.hp1 NA18954.hp1 NA18960.hp2 NA18966.hp2 NA18967.hp1 NA18971.hp2 NA18986.hp2 NA18995.hp2 NA19002.hp1 NA19012.hp2 NA19064.hp2 NA19070.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0001c0007 a0001c0008 others(4): Show a0001c0004 a0001c0007 a0001c0008 a0001c0012 a0001c0013 a0002c0015 a0003c0024	a0001c0004t0001 a0001c0004t0002 a0001c0004t0026 others(8): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0026 a0001c0004t0031 a0001c0007t0004 a0001c0007t0005 a0001c0008t0005 a0001c0012t0001 a0001c0013t0012 a0002c0015t0003 a0003c0024t0010	a0001c0004t0001g0002 a0001c0004t0001g0021 a0001c0004t0001g0025 others(25): Show a0001c0004t0001g0002 a0001c0004t0001g0021 a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0028 a0001c0004t0001g0032 a0001c0004t0001g0036 a0001c0004t0001g0037 a0001c0004t0001g0039 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0045 a0001c0004t0001g0048 a0001c0004t0002g0050 a0001c0004t0026g0046 a0001c0004t0031g0035 a0001c0007t0004g0241 a0001c0007t0005g0229 a0001c0007t0005g0234 a0001c0007t0005g0250 a0001c0007t0005g0251 a0001c0007t0005g0252 a0001c0008t0005g0192 a0001c0012t0001g0068 a0001c0013t0012g0013 a0001c0013t0012g0014 a0002c0015t0003g0043 a0003c0024t0010g0151	29	266	0.1090	48	c.460 others(65): Show c.460-4775_460-4774insCGGAGGTCGCGGCCACGCCGGGTGGGGA GGTCGCGGCCACGCTGGGTG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970526	A A	AGCATGGA others(41): Show AGCATGGACATGACCTCCGCACCCAGCGTGGCCGCGACCTCCCCACCCG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0249 a0001c0001t0015g0249	1	266	0.0038	48	c.460 others(65): Show c.460-4781_460-4780insCGGGTGGGGAGGTCGCGGCCACGCTGGG TGCGGAGGTCATGTCCATGC		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970526	A A	AGCGTGGC others(41): Show AGCGTGGCCGCGACCTCCGCACCCGGCGTGGCCGCGACCTCCCCACCCG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0033 a0001c0004t0001g0033	1	266	0.0038	48	c.460 others(65): Show c.460-4781_460-4780insCGGGTGGGGAGGTCGCGGCCACGCCGGG TGCGGAGGTCGCGGCCACGC		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970616	C C	CCACCCGG others(41): Show CCACCCGGCGTGGCCGTGACCTCCGCACCCGGCGTGGCCGCGACCTCCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0157 a0001c0001t0006g0157	1	266	0.0038	48	c.460 others(65): Show c.460-4871_460-4870insCGGAGGTCGCGGCCACGCCGGGTGCGGA GGTCACGGCCACGCCGGGTG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970630	C C	CGTGACCT others(41): Show CGTGACCTCCGCACCCAGTGTGGCCGTGACCTCCGCACCCAGTGTGGCT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	266	0.0038	48	c.460 others(65): Show c.460-4885_460-4884insAGCCACACTGGGTGCGGAGGTCACGGCC ACACTGGGTGCGGAGGTCAC		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83026749	C C	CCTCGACA others(41): Show CCTCGACAGACACACAGAGCAGGGCAGGGAGCCTGCAGACAAACCCACA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0007 a0002c0010t0007	a0002c0010t0007g0222 a0002c0010t0007g0222	1	266	0.0038	48	c.297 others(65): Show c.297+8285_297+8286insTGTGGGTTTGTCTGCAGGCTCCCTGCCC TGCTCTGTGTGTCTGTCGAG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83026777	G G	GAGCCTGC others(41): Show GAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGGAGGGCGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00621.hp2 others(94): Show HG00280.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02080.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02698.hp1 HG02809.hp1 HG02818.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18971.hp2 NA18973.hp2 NA18980.hp1 NA18986.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19010.hp1 NA19043.hp2 NA19064.hp1 NA19070.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0013 a0001c0014 a0001c0020 a0002c0005 a0002c0009 a0002c0010 a0003c0021 a0003c0025 a0003c0030 a0004c0017 a0005c0026 a0006c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0027 a0001c0001t0037 a0001c0001t0039 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0019 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0015 a0001c0003t0020 a0001c0003t0034 a0001c0006t0001 a0001c0007t0005 a0001c0008t0004 a0001c0008t0005 a0001c0008t0014 a0001c0008t0021 a0001c0008t0038 a0001c0011t0011 a0001c0011t0012 a0001c0013t0012 a0001c0014t0002 a0001c0020t0005 a0002c0005t0003 a0002c0005t0007 a0002c0009t0013 a0002c0009t0024 a0002c0010t0007 a0003c0021t0035 a0003c0025t0011 a0003c0030t0011 a0004c0017t0002 a0005c0026t0006 a0006c0018t0005	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 others(92): Show a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0002g0174 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0004g0227 a0001c0001t0004g0242 a0001c0001t0004g0247 a0001c0001t0004g0253 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0005g0256 a0001c0001t0006g0182 a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0010g0185 a0001c0001t0014g0248 a0001c0001t0015g0249 a0001c0001t0017g0177 a0001c0001t0019g0181 a0001c0001t0027g0184 a0001c0001t0037g0259 a0001c0001t0039g0260 a0001c0002t0001g0116 a0001c0002t0001g0129 a0001c0002t0002g0074 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0006g0070 a0001c0002t0006g0071 a0001c0002t0006g0127 a0001c0002t0006g0128 a0001c0002t0019g0115 a0001c0003t0004g0190 a0001c0003t0004g0201 a0001c0003t0004g0217 a0001c0003t0004g0223 a0001c0003t0005g0225 a0001c0003t0009g0202 a0001c0003t0009g0204 a0001c0003t0009g0209 a0001c0003t0009g0210 a0001c0003t0009g0211 a0001c0003t0009g0220 a0001c0003t0015g0198 a0001c0003t0015g0199 a0001c0003t0015g0221 a0001c0003t0020g0188 a0001c0003t0020g0200 a0001c0003t0034g0197 a0001c0006t0001g0016 a0001c0006t0001g0017 a0001c0007t0005g0250 a0001c0007t0005g0251 a0001c0007t0005g0252 a0001c0008t0004g0214 a0001c0008t0005g0208 a0001c0008t0014g0195 a0001c0008t0014g0212 a0001c0008t0021g0213 a0001c0008t0038g0215 a0001c0011t0011g0138 a0001c0011t0011g0139 a0001c0011t0012g0142 a0001c0013t0012g0001 a0001c0013t0012g0013 a0001c0013t0012g0014 a0001c0014t0002g0011 a0001c0020t0005g0218 a0002c0005t0003g0180 a0002c0005t0007g0261 a0002c0009t0013g0087 a0002c0009t0013g0117 a0002c0009t0013g0119 a0002c0009t0024g0118 a0002c0010t0007g0004 a0002c0010t0007g0205 a0002c0010t0007g0216 a0002c0010t0007g0224 a0003c0021t0035g0187 a0003c0025t0011g0054 a0003c0030t0011g0140 a0004c0017t0002g0136 a0004c0017t0002g0137 a0005c0026t0006g0176 a0006c0018t0005g0196	97	266	0.3647	48	c.297 others(65): Show c.297+8257_297+8258insTCCCGCCCTCCTCTGTGTGTCTGTCGAG GGTGGGTTTGTCTGCAGGCT		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83026777	G G	GAGCCTGC others(41): Show GAGCCTGCAGACAAACCCACCCTCGACAGACACGCAGAGGAGGGCAGGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0018 a0001c0006t0018	a0001c0006t0018g0015 a0001c0006t0018g0015	1	266	0.0038	48	c.297 others(65): Show c.297+8257_297+8258insTCCTGCCCTCCTCTGCGTGTCTGTCGAG GGTGGGTTTGTCTGCAGGCT		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83026777	G G	GAGCCTGC others(41): Show GAGCCTGCAGACAAACCCACCCTCGAGAGACACGCAGAGGAGGGCGGGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03453.hp2 HG03579.hp1 others(1): Show HG02486.hp1 HG03453.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0014 a0001c0001 a0001c0002 a0001c0014	a0001c0001t0002 a0001c0002t0016 a0001c0014t0018 a0001c0001t0002 a0001c0002t0016 a0001c0014t0018	a0001c0001t0002g0133 a0001c0002t0016g0134 a0001c0002t0016g0135 others(1): Show a0001c0001t0002g0133 a0001c0002t0016g0134 a0001c0002t0016g0135 a0001c0014t0018g0049	4	266	0.0150	48	c.297 others(65): Show c.297+8257_297+8258insTCCCGCCCTCCTCTGCGTGTCTCTCGAG GGTGGGTTTGTCTGCAGGCT		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83026822	G G	GGGAAGCC others(41): Show GGGAAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGGAGGGCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01891.hp1 HG02055.hp2 others(10): Show HG00438.hp1 HG01891.hp1 HG02055.hp2 HG02132.hp2 HG02165.hp2 HG02630.hp2 HG02683.hp2 HG02809.hp2 HG02896.hp1 HG03041.hp1 HG03579.hp2 NA18906.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0011 others(3): Show a0001c0001 a0001c0002 a0001c0011 a0001c0014 a0001c0029 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0011t0030 a0001c0014t0001 a0001c0029t0001 a0002c0005t0003	a0001c0001t0001g0051 a0001c0001t0001g0179 a0001c0001t0001g0186 others(10): Show a0001c0001t0001g0051 a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0002t0001g0089 a0001c0002t0001g0114 a0001c0011t0030g0143 a0001c0014t0001g0012 a0001c0029t0001g0141 a0002c0005t0003g0055 a0002c0005t0003g0056 a0002c0005t0003g0057	13	266	0.0489	48	c.297 others(65): Show c.297+8212_297+8213insTGCCCTCCTCTGTGTGTCTGTCGAGGGT GGGTTTGTCTGCAGGCTTCC		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83027007	G G	GGAGGGCA others(41): Show GGAGGGCAGGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGGC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02280.hp1 HG02451.hp1 others(9): Show HG01074.hp1 HG02280.hp1 HG02451.hp1 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG03041.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 NA18906.hp1 NA19240.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0003c0025 a0004c0019	a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 others(7): Show a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 a0001c0003t0014 a0001c0003t0015 a0001c0003t0020 a0001c0003t0034 a0001c0006t0001 a0003c0025t0011 a0004c0019t0004	a0001c0001t0004g0247 a0001c0001t0014g0248 a0001c0001t0015g0249 others(9): Show a0001c0001t0004g0247 a0001c0001t0014g0248 a0001c0001t0015g0249 a0001c0003t0014g0194 a0001c0003t0015g0198 a0001c0003t0015g0199 a0001c0003t0020g0188 a0001c0003t0020g0200 a0001c0003t0034g0197 a0001c0006t0001g0017 a0003c0025t0011g0054 a0004c0019t0004g0193	12	266	0.0451	48	c.297 others(65): Show c.297+8027_297+8028insGCCTGTGTGTCTGTCGAGGGTGGGTTTG TCTGCAGGCTCCCTGCCCTC		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12						chr17	TogoVar
B4GALNT2_chr17_49127769_49181840	49150296	G G	GGGGGGGT others(41): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG02630.hp1 others(4): Show HG01243.hp2 HG02109.hp2 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG03139.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0003 a0001c0001 a0001c0004 a0003c0003	a0001c0001t0044 a0001c0001t0051 a0001c0004t0008 others(3): Show a0001c0001t0044 a0001c0001t0051 a0001c0004t0008 a0001c0004t0020 a0001c0004t0049 a0003c0003t0009	a0001c0001t0044g0161 a0001c0001t0051g0350 a0001c0004t0008g0264 others(4): Show a0001c0001t0044g0161 a0001c0001t0051g0350 a0001c0004t0008g0264 a0001c0004t0008g0265 a0001c0004t0020g0254 a0001c0004t0049g0348 a0003c0003t0009g0349	7	380	0.0184	48	c.354 others(65): Show c.354-2498_354-2497insTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGG		B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
B4GALNT2_chr17_49127769_49181840	49150308	C C	CCCCCCGC others(41): Show CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	380	0.0026	48	c.354 others(65): Show c.354-2487_354-2486insGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCC		B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
B4GALNT3_chr12_454939_568509	459904	C C	CGGGGCGG others(41): Show CGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18998.hp2 NA18981.hp1 NA18998.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0157 a0002c0003t0003g0158 a0002c0003t0003g0157 a0002c0003t0003g0158	2	394	0.0051	48	c.-47 others(57): Show c.-473_-472insGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCG GGGGCGGGGGCG		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding					34		chr12	TogoVar
B4GALNT3_chr12_454939_568509	511407	C C	CCTTCCAC others(41): Show CCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	394	0.0025	48	c.170 others(67): Show c.170-23740_170-23693dupCACCTTCTTCCACCTTCCACCTTCCA CCTTCTTCCACCTTCCACCTTC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	512249	T T	TCTTCCAC others(41): Show TCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCAC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	394	0.0025	48	c.170 others(67): Show c.170-22896_170-22895insCACCTTCCACCTTCTTCCACCTTCCA CCTTCCACCTTCTTCCACCTTC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	369345	C C	CCGCCCCG others(41): Show CCGCCCCGCCCCGCCTCCCCTCGCCCCGCCTCCTCCGCCCCGCACCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	184	0.0054	48	c.-45 others(57): Show c.-459_-458insCGCCCCGCCCCGCCTCCCCTCGCCCCGCCTCCTCCG CCCCGCACCCCG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding					153		chr11	TogoVar

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