Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

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
EPHA8_chr1_22558489_22608595	22599868	G G	GGAAGGAA others(30): Show GGAAGGAAGGAAGGAGGGAAGGAGGGAGGGAAGGGAGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG01175.hp2 others(20): Show HG00735.hp2 HG01106.hp1 HG01175.hp2 HG01243.hp1 HG02040.hp1 HG02165.hp1 HG02647.hp1 HG02922.hp1 HG02970.hp1 HG03491.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG04204.hp2 NA18945.hp2 NA18975.hp1 NA18981.hp1 NA18986.hp1 NA19057.hp2 NA19058.hp2 NA19068.hp1 NA19074.hp2 NA19087.hp2	a0000 a0001 a0003 others(2): Show a0000 a0001 a0003 a0009 a0015	a0000c0042 a0001c0001 a0001c0002 others(8): Show a0000c0042 a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0015 a0001c0017 a0001c0046 a0003c0047 a0009c0039 a0015c0031	a0000c0042t0003 a0001c0001t0003 a0001c0002t0008 others(10): Show a0000c0042t0003 a0001c0001t0003 a0001c0002t0008 a0001c0005t0003 a0001c0005t0028 a0001c0005t0049 a0001c0009t0013 a0001c0015t0008 a0001c0017t0008 a0001c0046t0037 a0003c0047t0013 a0009c0039t0003 a0015c0031t0004	a0000c0042t0003g0106 a0001c0001t0003g0189 a0001c0002t0008g0118 others(20): Show a0000c0042t0003g0106 a0001c0001t0003g0189 a0001c0002t0008g0118 a0001c0005t0003g0032 a0001c0005t0003g0033 a0001c0005t0003g0035 a0001c0005t0003g0036 a0001c0005t0003g0037 a0001c0005t0003g0038 a0001c0005t0003g0053 a0001c0005t0003g0055 a0001c0005t0028g0052 a0001c0005t0049g0039 a0001c0009t0013g0044 a0001c0009t0013g0045 a0001c0009t0013g0046 a0001c0015t0008g0140 a0001c0017t0008g0304 a0001c0017t0008g0305 a0001c0046t0037g0297 a0003c0047t0013g0048 a0009c0039t0003g0310 a0015c0031t0004g0126	23	342	0.0673	37	c.238 others(54): Show c.2389-787_2389-786insAGGAAGGAGGGAAGGAGGGAGGGAAGGG AGAGAAGGA	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB1_chr3_134790260_135265467	134882814	C C	CTTTCTTT others(30): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0047 a0001c0001t0006g0047	1	134	0.0075	37	c.59- others(54): Show c.59-42991_59-42990insCTTTCTTTCTTTCTTTCTTTCTTTCTTT TCTTTCTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPPK1_chr8_143852324_143883467	143878395	C C	CCCGCACC others(30): Show CCCGCACCCGCCGCACCCGCCGCACCTGCCCGCACCCG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03225.hp1 HG02723.hp1 HG03225.hp1	a0064 a0069 a0064 a0069	a0064c0150 a0069c0151 a0064c0150 a0069c0151	a0064c0150t0001 a0069c0151t0004 a0064c0150t0001 a0069c0151t0004	a0064c0150t0001g0051 a0069c0151t0004g0052 a0064c0150t0001g0051 a0069c0151t0004g0052	2	424	0.0047	37	c.-46 others(50): Show c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGGCGGG TGCGG	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1			chr8	TogoVar
EPPK1_chr8_143852324_143883467	143878395	C C	CCCGCACC others(30): Show CCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCCG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0100 a0100	a0100c0049 a0100c0049	a0100c0049t0010 a0100c0049t0010	a0100c0049t0010g0040 a0100c0049t0010g0040	1	424	0.0024	37	c.-46 others(50): Show c.-46+42_-46+43insCGGGTGCGGCGGGTGCGGGCAGGTGCGGCGGG TGCGG	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1			chr8	TogoVar
EPS8L1_chr19_55070869_55092923	55078605	A A	AGTCAGAG others(30): Show AGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTGG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	340	0.0029	37	c.59- others(50): Show c.59-369_59-333dupGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCT GGGGG	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55078826	G G	GGGTCAGA others(30): Show GGGTCAGAGGGAAGAGGGGCTGGGGGCCTGGACTCCTA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00621.hp1 others(23): Show HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01258.hp1 HG01358.hp1 HG01517.hp2 HG02293.hp1 HG02738.hp2 HG04204.hp1 NA18963.hp2 NA18967.hp1 NA18975.hp1 NA18979.hp1 NA18982.hp2 NA18997.hp1 NA19002.hp1 NA19057.hp2 NA19074.hp2 NA19082.hp2 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0004 a0003c0003t0001 a0003c0003t0004	a0003c0003t0001g0013 a0003c0003t0001g0019 a0003c0003t0001g0033 others(11): Show a0003c0003t0001g0013 a0003c0003t0001g0019 a0003c0003t0001g0033 a0003c0003t0001g0034 a0003c0003t0001g0051 a0003c0003t0001g0160 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0164 a0003c0003t0001g0166 a0003c0003t0001g0176 a0003c0003t0001g0177 a0003c0003t0001g0178 a0003c0003t0004g0161	26	340	0.0765	37	c.59- others(50): Show c.59-170_59-169insCAGAGGGAAGAGGGGCTGGGGGCCTGGACTCC TAGGT	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
ERBB3_chr12_56075165_56108505	56075632	T T	TGGCCGGG others(30): Show TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG01891.hp2 others(9): Show HG00423.hp2 HG00621.hp2 HG01891.hp2 HG02055.hp2 HG02559.hp1 HG02572.hp2 HG02809.hp1 HG02970.hp2 HG03130.hp1 HG03540.hp2 NA18946.hp2 NA18980.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0013 a0003c0004 a0001c0001 a0001c0013 a0003c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0013t0003 a0003c0004t0008	a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 others(9): Show a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0006g0324 a0001c0013t0003g0322 a0003c0004t0008g0233 a0003c0004t0008g0234	12	392	0.0306	37	c.-46 others(48): Show c.-4669_-4668insGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGC	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding		4532		chr12	TogoVar
ERBB4_chr2_211370717_212543802	211571041	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0009 a0001c0004t0021g0009	1	56	0.0179	37	c.230 others(56): Show c.2302-8954_2302-8953insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	66018487	T T	TATTATAT others(30): Show TATTATATATTATAATATATAATATATAATATATAATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	306	0.0033	37	c.534 others(54): Show c.534-2835_534-2834insATTATATATTATAATATATAATATATAA TATATAATA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25			chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018527	T T	TTATATAA others(30): Show TTATATAATATATATTATATAATATATATTATATAATA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0125 a0001c0001t0013g0125	1	306	0.0033	37	c.534 others(54): Show c.534-2790_534-2789insAATATATATTATATAATATATATTATAT AATATATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018532	T T	TAATATAT others(30): Show TAATATATATTATATAATATATATTATATATTATATAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	306	0.0033	37	c.534 others(54): Show c.534-2790_534-2789insAATATATATTATATAATATATATTATAT ATTATATAA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25			chr5	TogoVar
ERCC6L2_chr9_95870691_96023447	95907834	C C	CACACACA others(30): Show CACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0279 a0003c0003t0008g0279	1	392	0.0026	37	c.788 others(52): Show c.788+585_788+586insACACACACACACACAACACACACACACACA CACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERGIC1_chr5_172829251_172957683	172908308	G G	GGGGGGGG others(30): Show GGGGGGGGGGAGAGAGGGGGAGGGGGGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	334	0.0030	37	c.156 others(54): Show c.156-1350_156-1349insAGAGAGGGGGAGGGGGGGGAGGGGGGGA GGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERI3_chr1_44216070_44360257	44342858	T T	TATATAAA others(30): Show TATATAAATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01433.hp2 HG01943.hp2 others(1): Show HG00280.hp1 HG01433.hp2 HG01943.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0138 others(1): Show a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0220	4	340	0.0118	37	c.212 others(54): Show c.212-3537_212-3536insTATATATATATATATATATATATATATA TATTTATAT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERICH1_chr8_659200_736224	701319	G G	GCCCTGCT others(30): Show GCCCTGCTGGACGGGAGCACGCCGTACCCACGGGTCTA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01891.hp1 others(5): Show HG01069.hp2 HG01071.hp2 HG01891.hp1 HG02451.hp1 HG02970.hp2 HG03139.hp1 HG03225.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0208 a0001c0001t0001g0209 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233	8	378	0.0212	37	c.170 others(54): Show c.170-8744_170-8708dupTAGACCCGTGGGTACGGCGTGCTCCCGT CCAGCAGGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98092003	C C	CTTCCTTC others(30): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	442	0.0023	37	c.101 others(56): Show c.1013-1196_1013-1195insCCTTCCTTCCTTCCTTTCCTTCCTTC CTTCCTTCCTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERMAP_chr1_42812122_42849991	42845519	T T	TATACACA others(30): Show TATACACATGTATGTGTATTATACATGTATATATGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02451.hp1 HG01243.hp2 HG01891.hp2 HG02451.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0003 a0006c0008t0001 a0006c0008t0003	a0006c0008t0001g0021 a0006c0008t0003g0249 a0006c0008t0001g0021 a0006c0008t0003g0249	3	386	0.0078	37	c.22 others(48): Show c.2287_*2288insATACACATGTATGTGTATTATACATGTATATATG TAC	ERMAP	ENSG00000164010.15	transcript	ENST00000372517.8	protein_coding		529		chr1	TogoVar
ESRP1_chr8_94636174_94712466	94636525	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01123.hp2 HG02647.hp2 others(1): Show HG00741.hp2 HG01123.hp2 HG02647.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0323 a0001c0003t0001g0239 a0001c0003t0001g0241 others(1): Show a0001c0001t0003g0323 a0001c0003t0001g0239 a0001c0003t0001g0241 a0001c0003t0001g0371	4	374	0.0107	37	c.-47 others(48): Show c.-4794_-4793insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding		4648		chr8	TogoVar
ESRP1_chr8_94636174_94712466	94668808	T T	TGTGTGTG others(30): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01433.hp2 HG03927.hp2 HG01255.hp2 HG01433.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0245 a0001c0001t0001g0343 a0001c0001t0001g0234 a0001c0001t0001g0245 a0001c0001t0001g0343	3	374	0.0080	37	c.123 others(54): Show c.1233+558_1233+559insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTG	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	10/15			chr8	TogoVar
ESRRB_chr14_76371137_76506837	76414162	T T	TCTCCCGC others(30): Show TCTCCCGCCCCTGCACCGTCTCCCGCCCCTGCACCGTC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0117 a0002c0004t0004g0117	1	318	0.0031	37	c.51- others(54): Show c.51-25178_51-25177insTCCCGCCCCTGCACCGTCTCCCGCCCCT GCACCGTCC	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRG_chr1_216498251_216728429	216524214	T T	TTTATATA others(30): Show TTTATATATATATATACATATATATATATATATGTAAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03195.hp2 HG02615.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0036 a0001c0001t0010g0086 a0001c0001t0010g0036 a0001c0001t0010g0086	2	286	0.0070	37	c.863 others(54): Show c.863-4794_863-4793insCTTACATATATATATATATATGTATATA TATATATAA	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	5/6			chr1	TogoVar
ESYT2_chr7_158725997_158834509	158729338	T T	TGCTGGGG others(30): Show TGCTGGGGGGAGGAGCAAGCGTGGAGGTGGGGGGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0003 a0002c0002t0006g0003	2	370	0.0054	37	c.48 others(48): Show c.4868_*4869insTCCTCCCCCCACCTCCACGCTTGCTCCTCCCCCC AGC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1658		chr7	TogoVar
ESYT2_chr7_158725997_158834509	158817542	G G	GCTTCCAG others(30): Show GCTTCCAGGTGTCCCACCTTTCTGAACCAATGTACCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(154): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01891.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02922.hp2 HG02976.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18953.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19080.hp1 NA19082.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0006 a0001c0007 others(6): Show a0001c0001 a0001c0006 a0001c0007 a0001c0011 a0001c0024 a0002c0002 a0003c0016 a0005c0012 a0007c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0043 a0001c0006t0001 a0001c0006t0009 a0001c0006t0011 a0001c0007t0001 a0001c0007t0036 a0001c0011t0001 a0001c0024t0001 a0002c0002t0042 a0003c0016t0004 a0005c0012t0001 a0007c0025t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(152): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0195 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0002g0001 a0001c0001t0002g0052 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0010g0043 a0001c0001t0010g0045 a0001c0001t0010g0047 a0001c0001t0013g0114 a0001c0001t0013g0134 a0001c0001t0014g0186 a0001c0001t0014g0187 a0001c0001t0017g0192 a0001c0001t0017g0193 a0001c0001t0024g0112 a0001c0001t0027g0064 a0001c0001t0028g0095 a0001c0001t0029g0094 a0001c0001t0031g0019 a0001c0001t0043g0129 a0001c0006t0001g0138 a0001c0006t0009g0190 a0001c0006t0011g0188 a0001c0006t0011g0189 a0001c0006t0011g0191 a0001c0007t0001g0029 a0001c0007t0001g0035 a0001c0007t0001g0175 a0001c0007t0001g0176 a0001c0007t0036g0032 a0001c0011t0001g0102 a0001c0011t0001g0139 a0001c0011t0001g0140 a0001c0024t0001g0326 a0002c0002t0042g0027 a0003c0016t0004g0078 a0005c0012t0001g0005 a0005c0012t0001g0006 a0007c0025t0001g0041	157	370	0.4243	37	c.330 others(56): Show c.330+11510_330+11546dupTGGGTACATTGGTTCAGAAAGGTGGG ACACCTGGAAG	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ETFA_chr15_76210353_76316469	76311932	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG02015.hp1 HG03490.hp1 HG00597.hp2 HG02015.hp1 HG03490.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0117 a0001c0001t0002g0125 a0003c0003t0002g0121 a0001c0001t0002g0117 a0001c0001t0002g0125 a0003c0003t0002g0121	3	336	0.0089	37	c.-54 others(46): Show c.-545_-544insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding		464		chr15	TogoVar
ETFB_chr19_51340169_51371388	51353421	A A	AGGCCCCC others(30): Show AGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCG	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA19091.hp2 HG03927.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0169 a0001c0001t0001g0150 a0001c0001t0001g0169	2	436	0.0046	37	c.217 others(52): Show c.217-168_217-132dupCGGACTCCTGGGTCTGAGGAAGGAGGGGAT GGGGGCC	ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	2/5			chr19	TogoVar
ETFB_chr19_51340169_51371388	51353458	G G	GGGCCCCC others(30): Show GGGCCCCCATGCCCTCCTTCCTCAGACCCAGGAGTCCA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03139.hp2 HG03225.hp1 others(1): Show HG02976.hp2 HG03139.hp2 HG03225.hp1 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0078 a0002c0002t0001g0079 others(1): Show a0002c0002t0001g0075 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0338	4	436	0.0092	37	c.217 others(52): Show c.217-169_217-168insTGGACTCCTGGGTCTGAGGAAGGAGGGCAT GGGGGCC	ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	2/5			chr19	TogoVar
ETFB_chr19_51340169_51371388	51353897	A A	AATCCAGG others(30): Show AATCCAGGCTATCAGCCCATCCTCCCTCAGACCCAGGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02976.hp2 HG03139.hp2 others(2): Show HG02630.hp1 HG02976.hp2 HG03139.hp2 HG03225.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0069 a0002c0002t0001g0075 a0002c0002t0001g0078 others(2): Show a0001c0001t0001g0069 a0002c0002t0001g0075 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0338	5	436	0.0115	37	c.216 others(52): Show c.216+252_216+253insGCCTGGGTCTGAGGGAGGATGGGCTGATAG CCTGGAT	ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	2/5			chr19	TogoVar
ETS1_chr11_128453765_128592558	128571501	C C	CCAGCCTG others(30): Show CCAGCCTGGGCGACAGAGCGAGACTCCGTCCAGCCTGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03225.hp1 HG02896.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0027 a0001c0002t0008 a0001c0002t0027	a0001c0002t0008g0122 a0001c0002t0027g0125 a0001c0002t0008g0122 a0001c0002t0027g0125	2	286	0.0070	37	c.69+ others(52): Show c.69+1560_69+1561insCCAGGCTGGACGGAGTCTCGCTCTGTCGCC CAGGCTG	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	2/9			chr11	TogoVar
ETV2_chr19_35636745_35649871	35638908	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	438	0.0023	37	c.-32 others(48): Show c.-3276_-3275insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	ETV2	ENSG00000105672.15	transcript	ENST00000402764.6	protein_coding		2836		chr19	TogoVar
EVX2_chr2_176072472_176088962	176084421	G G	GTTTTGTT others(30): Show GTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	430	0.0023	37	c.-64 others(46): Show c.-646_-645insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAA A	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		460		chr2	TogoVar
EVX2_chr2_176072472_176088962	176084421	G G	GTTTTTTT others(30): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 NA21309.hp1 HG02622.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0008 a0001c0015t0008 a0001c0002t0008 a0001c0015t0008	a0001c0002t0008g0014 a0001c0015t0008g0042 a0001c0002t0008g0014 a0001c0015t0008g0042	2	430	0.0047	37	c.-64 others(46): Show c.-646_-645insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		460		chr2	TogoVar
EXD3_chr9_137301896_137428162	137323149	A A	ACCCCACC others(30): Show ACCCCACCCCGGACCCACGAGGGGTGATCTGCCGACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0029 a0029	a0029c0036 a0029c0036	a0029c0036t0001 a0029c0036t0001	a0029c0036t0001g0003 a0029c0036t0001g0003	1	82	0.0122	37	c.218 others(54): Show c.2184+539_2184+575dupGTGTCGGCAGATCACCCCTCGTGGGTCC GGGGTGGGG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137408546	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	82	0.0122	37	c.-47 others(56): Show c.-47-13143_-47-13142insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	1/21			chr9	TogoVar
EXOC1_chr4_55848648_55910086	55909185	A A	ATATATGG others(30): Show ATATATGGTATATATATCAATATATATGATATATATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG01099.hp1 others(33): Show HG00408.hp2 HG00639.hp1 HG01099.hp1 HG01106.hp2 HG01192.hp2 HG01243.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG02083.hp1 HG02129.hp2 HG02155.hp1 HG02735.hp2 HG03017.hp2 HG04115.hp2 HG04228.hp1 NA18906.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18961.hp2 NA18968.hp1 NA18975.hp1 NA18986.hp1 NA18988.hp1 NA18994.hp1 NA18995.hp1 NA19007.hp2 NA19062.hp2 NA19081.hp1 NA19084.hp2 NA19088.hp1 NA19089.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0004c0009t0001 a0001c0001t0001 a0004c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0026 others(24): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0241 a0001c0001t0001g0254 a0004c0009t0001g0003	36	376	0.0957	37	c.46 others(48): Show c.4690_*4691insTATATGGTATATATATCAATATATATGATATATA TGG	EXOC1	ENSG00000090989.18	transcript	ENST00000381295.7	protein_coding		4100		chr4	TogoVar
EXOC2_chr6_480154_698139	501202	T T	TATCTATA others(30): Show TATCTATATATTATATATATCTATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18979.hp2 HG00597.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0032 a0001c0002t0002g0031 a0001c0001t0002g0032 a0001c0002t0002g0031	2	272	0.0074	37	c.238 others(56): Show c.2381-1503_2381-1502insTATATATAATATATATAGATATATAT AATATATAGAT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501492	T T	TATCTATA others(30): Show TATCTATATATATTATATATATATATTATATATATCTA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0118 a0001c0002t0002g0118	1	272	0.0037	37	c.238 others(56): Show c.2381-1793_2381-1792insTAGATATATATAATATATATATATAA TATATATAGAT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	639265	T T	TCTCCTGC others(30): Show TCTCCTGCCCTTGCCACTGTGAGCAGGTGTGCAAGCCC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	272	0.0037	37	c.-43 others(54): Show c.-43-1441_-43-1405dupGGGCTTGCACACCTGCTCACAGTGGCAA GGGCAGGAG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC3L4_chr14_103089725_103115559	103109201	T T	TCCCCATG others(30): Show TCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01123.hp1 HG01255.hp2 others(3): Show HG00642.hp2 HG01123.hp1 HG01255.hp2 HG02145.hp2 HG03239.hp1 HG04115.hp2	a0001 a0004 a0001 a0004	a0001c0014 a0004c0002 a0001c0014 a0004c0002	a0001c0014t0003 a0004c0002t0001 a0004c0002t0003 a0001c0014t0003 a0004c0002t0001 a0004c0002t0003	a0001c0014t0003g0043 a0004c0002t0001g0050 a0004c0002t0001g0060 others(3): Show a0001c0014t0003g0043 a0004c0002t0001g0050 a0004c0002t0001g0060 a0004c0002t0003g0053 a0004c0002t0003g0059 a0004c0002t0003g0083	6	404	0.0149	37	c.197 others(54): Show c.1976+720_1976+721insCCCCCATGTCTCCCTCCCTCCCTCCCTC TCCACCCTG	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109434	T T	TCCTCCCT others(30): Show TCCTCCCTCCCTCTCCACCCTGTCCCTGGGTCTCCCTC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0003 a0004c0002t0003	a0004c0002t0003g0083 a0004c0002t0003g0083	1	404	0.0025	37	c.197 others(54): Show c.1977-576_1977-575insTCCCTGGGTCTCCCTCCCTCCCTCCCTC TCCACCCTG	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC6B_chr2_72170984_72831033	72773120	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0020 a0001c0006t0020	a0001c0006t0020g0069 a0001c0006t0020g0069	1	104	0.0096	37	c.114 others(56): Show c.114-31652_114-31651insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	1/21			chr2	TogoVar
EXPH5_chr11_108500435_108598768	108569357	G G	GGAGACAG others(30): Show GGAGACAGAGCCTCTCTCTGTCACGCAAGCTGGAGTGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0044 a0002c0035t0044	a0002c0035t0044g0090 a0002c0035t0044g0090	1	314	0.0032	37	c.119 others(56): Show c.119+24024_119+24060dupGCACTCCAGCTTGCGTGACAGAGAGA GGCTCTGTCTC	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18950.hp1 NA18940.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0049 a0001c0001t0013g0050 a0001c0001t0013g0049 a0001c0001t0013g0050	2	392	0.0051	37	c.-68 others(56): Show c.-68-15034_-68-15033insAAAAAAATATATATATATATATATAT ATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0067 a0001c0001t0013g0067	1	392	0.0026	37	c.-68 others(56): Show c.-68-15034_-68-15033insAAAAAAAAATATATATATATATATAT ATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYS_chr6_63714980_65712226	63727737	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0011 a0011	a0011c0001 a0011c0001	a0011c0001t0001 a0011c0001t0001	a0011c0001t0001g0013 a0011c0001t0001g0013	1	24	0.0417	37	c.807 others(56): Show c.8072-1058_8072-1057insATATATATATATATATATATATATAT ATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	41/42			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261580	G G	GCCCTCCA others(30): Show GCCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01358.hp1 HG02293.hp1 others(5): Show HG00597.hp1 HG01358.hp1 HG02293.hp1 NA18951.hp1 NA18951.hp2 NA18978.hp2 NA18979.hp1 NA19087.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0015 others(1): Show a0001c0001 a0002c0002 a0003c0015 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0015t0002 a0005c0005t0002	a0001c0001t0001g0030 a0001c0001t0001g0117 a0001c0001t0002g0134 others(5): Show a0001c0001t0001g0030 a0001c0001t0001g0117 a0001c0001t0002g0134 a0002c0002t0001g0140 a0002c0002t0002g0191 a0003c0015t0002g0087 a0005c0005t0002g0229 a0005c0005t0002g0290	8	292	0.0274	37	c.571 others(54): Show c.571+4977_571+4978insTCACCACGCTTGGAGCACATCAGAATCA CCTGGAGGG	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261614	G G	GTGACCCT others(30): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01168.hp1 others(5): Show HG01070.hp1 HG01071.hp2 HG01168.hp1 HG01361.hp2 HG01928.hp1 HG02273.hp1 HG02886.hp2 HG02976.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0014 a0001c0001 a0002c0002 a0006c0014	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0006c0014t0003	a0001c0001t0001g0036 a0001c0001t0001g0123 a0001c0001t0001g0163 others(5): Show a0001c0001t0001g0036 a0001c0001t0001g0123 a0001c0001t0001g0163 a0001c0001t0001g0258 a0001c0001t0002g0050 a0002c0002t0002g0236 a0006c0014t0003g0213 a0006c0014t0003g0214	8	292	0.0274	37	c.571 others(54): Show c.571+4943_571+4944insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261614	G G	GTGACCCT others(30): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGTGTGC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	292	0.0034	37	c.571 others(54): Show c.571+4943_571+4944insGCACACTTGGAGCACATCAGAATCACCT GGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261651	G G	GTGACCCT others(30): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG01081.hp2 others(36): Show HG00423.hp2 HG00558.hp1 HG01081.hp2 HG01167.hp2 HG02080.hp2 HG02132.hp2 HG02257.hp1 HG02622.hp1 HG02809.hp1 HG02965.hp1 HG02965.hp2 HG03225.hp1 HG03516.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18962.hp1 NA18966.hp2 NA18970.hp1 NA18974.hp1 NA18982.hp1 NA18993.hp2 NA18999.hp1 NA19003.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp2 NA19087.hp2 NA19088.hp2 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0010 a0011	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0007c0007 a0007c0022 a0010c0012 a0011c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0004c0004t0002 a0004c0004t0009 a0007c0007t0002 a0007c0022t0002 a0010c0012t0001 a0011c0018t0002	a0001c0001t0001g0047 a0001c0001t0001g0151 a0001c0001t0001g0156 others(36): Show a0001c0001t0001g0047 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0172 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0227 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0139 a0001c0001t0002g0158 a0001c0001t0002g0175 a0001c0001t0002g0199 a0001c0001t0002g0241 a0001c0001t0004g0076 a0002c0002t0001g0025 a0002c0002t0001g0142 a0002c0002t0001g0144 a0002c0002t0001g0148 a0002c0002t0001g0189 a0002c0002t0001g0216 a0002c0002t0001g0231 a0002c0002t0002g0020 a0002c0002t0002g0171 a0003c0003t0001g0116 a0003c0003t0002g0115 a0004c0004t0002g0275 a0004c0004t0009g0012 a0007c0007t0002g0034 a0007c0007t0002g0217 a0007c0022t0002g0127 a0010c0012t0001g0234 a0011c0018t0002g0113	39	292	0.1336	37	c.571 others(54): Show c.571+4906_571+4907insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261725	G G	GTGACCCT others(30): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01358.hp2 HG01167.hp1 HG01358.hp2	a0003 a0004 a0003 a0004	a0003c0017 a0004c0004 a0003c0017 a0004c0004	a0003c0017t0005 a0004c0004t0003 a0003c0017t0005 a0004c0004t0003	a0003c0017t0005g0154 a0004c0004t0003g0004 a0003c0017t0005g0154 a0004c0004t0003g0004	2	292	0.0069	37	c.571 others(54): Show c.571+4832_571+4833insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261873	G G	GTGACCCT others(30): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03579.hp2 NA18973.hp1 HG00438.hp1 HG03579.hp2 NA18973.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0012 a0001c0001 a0010c0012	a0001c0001t0001 a0001c0001t0002 a0010c0012t0001 a0001c0001t0001 a0001c0001t0002 a0010c0012t0001	a0001c0001t0001g0141 a0001c0001t0002g0083 a0010c0012t0001g0226 a0001c0001t0001g0141 a0001c0001t0002g0083 a0010c0012t0001g0226	3	292	0.0103	37	c.571 others(54): Show c.571+4684_571+4685insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar

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