Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ETV6_chr12_11644674_11900377	11874549	CATATATG others(21): Show CATATATGTGTATGTGCGTGTGTACACAT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0252 a0001c0001t0020g0252	1	262	0.0038	-28	c.100 others(47): Show c.1009+4585_1009+4612delATGTGTATGTGCGTGTGTACACATAT AT	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
EVA1C_chr21_32407706_32520387	32501979	CGCTCTTT others(21): Show CGCTCTTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0250 a0001c0010t0001g0250	1	346	0.0029	-28	c.859 others(43): Show c.859+485_859+512delGCTCTTTTCTTTCTTTCTTTCTTTCTTT	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	6/7			chr21	TogoVar
EVA1C_chr21_32407706_32520387	32501984	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02027.hp1 HG02074.hp2 others(5): Show HG00558.hp1 HG02027.hp1 HG02074.hp2 HG02559.hp1 HG02615.hp1 HG02818.hp2 HG02970.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0058 a0001c0001t0001g0098 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0058 a0001c0001t0001g0098 a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0297 a0001c0002t0001g0045 a0001c0002t0001g0255	8	346	0.0231	-28	c.859 others(43): Show c.859+532_859+559delTCTTTCTTTCTTTCTTTCTTTCTTTCTT	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVI5_chr1_92503696_92790108	92513539	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp1 HG01891.hp2 HG02109.hp2 others(5): Show HG01081.hp1 HG01891.hp2 HG02109.hp2 HG02572.hp1 HG02630.hp2 HG02723.hp2 HG02922.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0026 a0001c0001t0046 others(3): Show a0001c0001t0025 a0001c0001t0026 a0001c0001t0046 a0001c0001t0047 a0001c0001t0057 a0001c0001t0058	a0001c0001t0025g0027 a0001c0001t0025g0029 a0001c0001t0026g0056 others(5): Show a0001c0001t0025g0027 a0001c0001t0025g0029 a0001c0001t0026g0056 a0001c0001t0026g0057 a0001c0001t0046g0086 a0001c0001t0047g0137 a0001c0001t0057g0048 a0001c0001t0058g0028	8	168	0.0476	-28	c.89 others(36): Show c.89_*116delCATATATATATATATATATATATATATA	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	20/20	89		chr1	TogoVar
EVL_chr14_100060422_100149236	100142244	AAGGTCTA others(21): Show AAGGTCTACAGAAGCACCTTCCAGGCTTG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03041.hp1 HG03098.hp1 others(1): Show HG02647.hp1 HG03041.hp1 HG03098.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0235 a0001c0001t0001g0276 a0001c0001t0001g0291 others(1): Show a0001c0001t0001g0235 a0001c0001t0001g0276 a0001c0001t0001g0291 a0001c0001t0002g0290	4	354	0.0113	-28	c.121 others(45): Show c.1219+454_1219+481delGTCTACAGAAGCACCTTCCAGGCTTGAG	EVL	ENSG00000196405.13	transcript	ENST00000392920.8	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXD1_chr15_41177728_41235757	41229284	CCTAGACA others(21): Show CCTAGACAATATGGTGAAACCCTGTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	318	0.0031	-28	c.-54 others(45): Show c.-54+1167_-54+1194delAGAGACAGGGTTTCACCATATTGTCTAG	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding	1/11			chr15	TogoVar
EXOC2_chr6_480154_698139	501176	CTATATAT others(21): Show CTATATATTATATATATCTATATATATTA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02451.hp1 others(12): Show HG02109.hp2 HG02145.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03453.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0001c0020 a0002c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0003t0002 a0001c0003t0003 a0001c0004t0003 a0001c0007t0002 a0001c0007t0003 a0001c0010t0002 a0001c0020t0001 a0002c0005t0002 a0002c0005t0011	a0001c0001t0002g0013 a0001c0001t0002g0146 a0001c0001t0003g0202 others(12): Show a0001c0001t0002g0013 a0001c0001t0002g0146 a0001c0001t0003g0202 a0001c0001t0011g0268 a0001c0003t0002g0226 a0001c0003t0003g0223 a0001c0004t0003g0116 a0001c0007t0002g0123 a0001c0007t0002g0196 a0001c0007t0003g0171 a0001c0010t0002g0264 a0001c0010t0002g0265 a0001c0020t0001g0200 a0002c0005t0002g0153 a0002c0005t0011g0266	15	272	0.0552	-28	c.238 others(47): Show c.2381-1504_2381-1477delTAATATATATAGATATATATAATATA TA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	507194	CCACACAC others(21): Show CCACACACACACACAGCAGTGACCACACA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02615.hp1 HG01243.hp2 HG01891.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0015 a0001c0022 a0001c0002 a0001c0015 a0001c0022	a0001c0002t0002 a0001c0015t0003 a0001c0022t0007 a0001c0002t0002 a0001c0015t0003 a0001c0022t0007	a0001c0002t0002g0231 a0001c0015t0003g0041 a0001c0022t0007g0163 a0001c0002t0002g0231 a0001c0015t0003g0041 a0001c0022t0007g0163	3	272	0.0110	-28	c.238 others(47): Show c.2381-7522_2381-7495delTGTGTGGTCACTGCTGTGTGTGTGTG TG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC4_chr7_133248078_134070761	133853345	AACACACA others(21): Show AACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01255.hp1 HG02280.hp1 others(3): Show HG00738.hp2 HG01255.hp1 HG02280.hp1 HG02723.hp2 HG02896.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0003t0004	a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0003g0056 others(3): Show a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0003g0056 a0001c0002t0006g0065 a0001c0002t0006g0096 a0001c0003t0004g0093	6	102	0.0588	-28	c.173 others(49): Show c.1734+35827_1734+35854delCACACACACACACACACACACACA CACA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857249	ATATATAT others(21): Show ATATATATATATATATATATATATACACG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02976.hp1 HG03540.hp1 others(2): Show HG02280.hp2 HG02976.hp1 HG03540.hp1 NA18906.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0019 a0001c0004t0004 a0001c0006t0010	a0001c0001t0001g0038 a0001c0001t0005g0040 a0001c0001t0019g0085 others(2): Show a0001c0001t0001g0038 a0001c0001t0005g0040 a0001c0001t0019g0085 a0001c0004t0004g0037 a0001c0006t0010g0084	5	102	0.0490	-28	c.173 others(49): Show c.1735-38329_1735-38302delTATACACGTATATATATATATATA TATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857301	GTATATAT others(21): Show GTATATATATATATATATATACACGTATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0034 a0001c0001t0005g0034	1	102	0.0098	-28	c.173 others(49): Show c.1735-38277_1735-38250delCACGTATATATATATATATATATA TATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72512339	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03041.hp1 HG02145.hp1 HG03041.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0002 a0002c0004t0008g0004 a0002c0004t0008g0002 a0002c0004t0008g0004	2	104	0.0192	-28	c.116 others(45): Show c.1167+765_1167+792delTTTCCTTCCTTCCTTCCTTCCTTCCTTC	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	11/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72512367	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0008 a0001c0006t0010g0008	1	104	0.0096	-28	c.116 others(45): Show c.1167+737_1167+764delCTTCCTTCCTTCCTTCCTTCCTTCCTTC	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	11/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631453	TATATATA others(21): Show TATATATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0005 a0002c0004t0013g0005	1	104	0.0096	-28	c.670 others(47): Show c.670-55813_670-55786delCTCTCTCTCTCTCTCTCTCTATATAT AT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631461	TAGAGAGA others(21): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0060 a0001c0001t0007g0060	1	104	0.0096	-28	c.670 others(47): Show c.670-55821_670-55794delCTCTCTCTCTCTCTCTCTCTCTCTCT CT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOG_chr3_38491340_38531303	38492731	TACACACA others(21): Show TACACACACACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG00741.hp2 others(23): Show HG00621.hp2 HG00639.hp2 HG00741.hp2 HG01123.hp2 HG01256.hp2 HG01258.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02080.hp1 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02451.hp2 HG02630.hp1 HG02970.hp1 HG03041.hp2 HG03209.hp2 NA18960.hp2 NA18986.hp2 NA19066.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0013 others(12): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0002g0088 a0001c0001t0005g0141	26	412	0.0631	-28	c.-36 others(39): Show c.-3636_-3609delACACACACACACACACACACACACACAC	EXOG	ENSG00000157036.13	transcript	ENST00000287675.10	protein_coding		3608		chr3	TogoVar
EXOG_chr3_38491340_38531303	38492777	CACACACA others(21): Show CACACACACACACACACACACACACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02258.hp2 HG03209.hp1 others(4): Show HG00558.hp1 HG02258.hp2 HG03209.hp1 HG03491.hp2 HG03492.hp2 NA18962.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0001 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0009 a0001c0001t0003g0003 a0001c0001t0003g0029 others(2): Show a0001c0001t0001g0009 a0001c0001t0003g0003 a0001c0001t0003g0029 a0001c0001t0003g0124 a0001c0001t0010g0026	7	412	0.0170	-28	c.-35 others(39): Show c.-3590_-3563delACACACACACACACACACACACACACAT	EXOG	ENSG00000157036.13	transcript	ENST00000287675.10	protein_coding		3562		chr3	TogoVar
EXPH5_chr11_108500435_108598768	108532354	ATATATAT others(21): Show ATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0183 a0002c0002t0010g0183	1	314	0.0032	-28	c.444 others(45): Show c.444-4198_444-4171delAAAAAAAAAAAAAAAATATATATATATA	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	3/5			chr11	TogoVar
EXT1_chr8_117789490_118116826	117858712	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0138 a0001c0004t0011g0138	1	190	0.0053	-28	c.963 others(47): Show c.963-21539_963-21512delCTTCCTTCCTTCCTTCCTTCCTTCCT TC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117858844	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02559.hp1 HG02809.hp2 others(2): Show HG01496.hp2 HG02559.hp1 HG02809.hp2 HG02886.hp1 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0001c0007	a0001c0002t0017 a0001c0004t0001 a0001c0004t0005 others(2): Show a0001c0002t0017 a0001c0004t0001 a0001c0004t0005 a0001c0005t0057 a0001c0007t0013	a0001c0002t0017g0188 a0001c0004t0001g0054 a0001c0004t0005g0060 others(2): Show a0001c0002t0017g0188 a0001c0004t0001g0054 a0001c0004t0005g0060 a0001c0005t0057g0132 a0001c0007t0013g0014	5	190	0.0263	-28	c.963 others(47): Show c.963-21671_963-21644delTTTCTTTCTTTCTTTCTTTCTTTCTT TC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117968545	ATTTATTT others(21): Show ATTTATTTATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01943.hp2 HG01952.hp1 others(3): Show HG01081.hp2 HG01943.hp2 HG01952.hp1 HG02165.hp1 HG03831.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0002t0045 a0001c0003t0007 others(1): Show a0001c0001t0002 a0001c0002t0045 a0001c0003t0007 a0001c0004t0011	a0001c0001t0002g0053 a0001c0001t0002g0105 a0001c0001t0002g0107 others(3): Show a0001c0001t0002g0053 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0002t0045g0063 a0001c0003t0007g0133 a0001c0004t0011g0138	6	190	0.0316	-28	c.963 others(49): Show c.963-131372_963-131345delAAAAAAAAAAAAAAAAAAAATAAA TAAA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118096616	GAAGGAGG others(21): Show GAAGGAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02257.hp1 HG02559.hp1 others(1): Show HG01074.hp1 HG02257.hp1 HG02559.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0009 a0001c0001 a0001c0007 a0002c0009	a0001c0001t0034 a0001c0001t0069 a0001c0007t0013 others(1): Show a0001c0001t0034 a0001c0001t0069 a0001c0007t0013 a0002c0009t0038	a0001c0001t0034g0016 a0001c0001t0069g0182 a0001c0007t0013g0014 others(1): Show a0001c0001t0034g0016 a0001c0001t0069g0182 a0001c0007t0013g0014 a0002c0009t0038g0024	4	190	0.0211	-28	c.962 others(47): Show c.962+13441_962+13468delTCCTTCCTTCCTTCCTTCCTTCCTCC TT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118096648	AAGGAAGG others(21): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0059 a0001c0005t0059	a0001c0005t0059g0056 a0001c0005t0059g0056	1	190	0.0053	-28	c.962 others(47): Show c.962+13409_962+13436delCCCTTCCTTCCTTCCTTCCTTCCTTC CT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118096652	AAGGAAGG others(21): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01081.hp1 HG02132.hp1 others(8): Show HG00140.hp2 HG01081.hp1 HG02132.hp1 HG02523.hp2 HG03490.hp1 HG03492.hp2 HG03710.hp1 HG03927.hp2 NA18978.hp1 NA19090.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0011 a0001c0001 a0001c0008 a0001c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0021 a0001c0008t0006 a0001c0011t0008	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(8): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0003g0057 a0001c0001t0004g0055 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0021g0023 a0001c0001t0021g0025 a0001c0008t0006g0162 a0001c0011t0008g0160	11	190	0.0579	-28	c.962 others(47): Show c.962+13405_962+13432delCCCTCCCTTCCTTCCTTCCTTCCTTC CT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EYA2_chr20_46889843_47193844	47135826	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAACAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG01069.hp1 others(27): Show HG00609.hp1 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01175.hp2 HG01255.hp1 HG01433.hp2 HG02055.hp2 HG02257.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02970.hp1 HG03195.hp2 HG03490.hp2 HG03704.hp2 HG03834.hp1 HG03942.hp1 NA18939.hp2 NA18977.hp2 NA18982.hp1 NA19090.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0009t0001	a0001c0001t0001g0148 a0001c0001t0002g0042 a0001c0001t0002g0043 others(27): Show a0001c0001t0001g0148 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0072 a0001c0001t0002g0090 a0001c0001t0002g0150 a0001c0001t0002g0235 a0001c0001t0003g0013 a0001c0001t0003g0022 a0001c0001t0003g0048 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0092 a0001c0001t0003g0097 a0001c0001t0003g0119 a0001c0001t0003g0130 a0001c0001t0003g0154 a0001c0001t0003g0170 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0003t0001g0098 a0001c0003t0002g0056 a0001c0003t0002g0186 a0001c0003t0002g0233 a0001c0003t0003g0018 a0001c0003t0003g0045 a0001c0003t0003g0218 a0001c0009t0001g0095	30	238	0.1261	-28	c.889 others(45): Show c.889-7226_889-7199delAAAAAAAAACAAACAAACAAACAAAAAA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47156125	CACATATA others(21): Show CACATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp1 HG02897.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0138 a0002c0005t0001g0031 a0002c0005t0001g0032 a0001c0001t0001g0138 a0002c0005t0001g0031 a0002c0005t0001g0032	3	238	0.0126	-28	c.978 others(47): Show c.978+12979_979-12985delCATATATATATATATATATATATATA TA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47156127	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG06807.hp1 HG04228.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0005 a0001c0002t0001g0201 a0001c0001t0001g0005 a0001c0002t0001g0201	2	238	0.0084	-28	c.979 others(47): Show c.979-12981_979-12954delATATATATATATATATATATATATAT AT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA3_chr1_27965344_28093610	28084577	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0380 a0001c0001t0004g0380	1	392	0.0026	-28	c.-69 others(45): Show c.-69+3919_-69+3946delAAAAAAAAAATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084579	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp1 HG02647.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0386 a0001c0001t0006g0267 a0001c0001t0004g0386 a0001c0001t0006g0267	2	392	0.0051	-28	c.-69 others(45): Show c.-69+3917_-69+3944delAAAAAAAAAAAATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA4_chr6_133236357_133537128	133294023	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01074.hp2 HG01106.hp2 others(37): Show HG00408.hp1 HG01074.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01884.hp1 HG01891.hp2 HG02004.hp1 HG02129.hp2 HG02145.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02647.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03041.hp2 HG03195.hp2 HG03239.hp1 HG03942.hp1 HG04228.hp2 NA18906.hp2 NA18954.hp2 NA18965.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp2 NA18989.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19012.hp2 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0029 a0001c0001t0031 a0001c0001t0042 a0001c0001t0044 a0001c0004t0046 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0010 a0002c0002t0016 a0002c0002t0045	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 others(37): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0002g0062 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0003g0069 a0001c0001t0009g0137 a0001c0001t0011g0086 a0001c0001t0019g0059 a0001c0001t0020g0093 a0001c0001t0029g0010 a0001c0001t0031g0203 a0001c0001t0042g0095 a0001c0001t0044g0096 a0001c0004t0046g0094 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0061 a0002c0002t0001g0067 a0002c0002t0001g0077 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0002g0080 a0002c0002t0005g0079 a0002c0002t0006g0072 a0002c0002t0007g0131 a0002c0002t0007g0132 a0002c0002t0010g0141 a0002c0002t0016g0055 a0002c0002t0045g0085	40	264	0.1515	-28	c.33+ others(45): Show c.33+19223_33+19250delTATATATATATATATATATATATATATA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYS_chr6_63714980_65712226	64686813	ATATATAT others(21): Show ATATATATGTGTATATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0019 a0019	a0019c0023 a0019c0023	a0019c0023t0001 a0019c0023t0001	a0019c0023t0001g0010 a0019c0023t0001g0010	1	24	0.0417	-28	c.344 others(49): Show c.3444-60596_3444-60569delCACGTATATATATATATACACATA TATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	22/42			chr6	TogoVar
F10_chr13_113117799_113154529	113124124	TGAGGCCC others(21): Show TGAGGCCCTAAGCCCGGCCCGGGGCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	412	0.0024	-28	c.70+ others(43): Show c.70+1222_70+1249delGCTCCCGAGGCCCTAAGCCCGGCCCGGG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F13A1_chr6_6139084_6325662	6316077	GCATATAT others(21): Show GCATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	292	0.0034	-28	c.130 others(45): Show c.130+2430_130+2457delTATATATATATATATATATATATATATG	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	2/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6316078	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03209.hp1 HG03704.hp1 others(2): Show HG02559.hp2 HG03209.hp1 HG03704.hp1 NA19087.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0047 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0047 a0001c0001t0001g0156 a0001c0001t0004g0011	5	292	0.0171	-28	c.130 others(45): Show c.130+2429_130+2456delATATATATATATATATATATATATATAT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	2/14			chr6	TogoVar
F5_chr1_169506951_169591481	169577577	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0070 a0002c0070	a0002c0070t0001 a0002c0070t0001	a0002c0070t0001g0277 a0002c0070t0001g0277	1	306	0.0033	-28	c.250 others(45): Show c.250+4826_250+4853delCATATATATATATATATATATATATATA	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	2/24			chr1	TogoVar
F7_chr13_113100791_113125685	113124124	TGAGGCCC others(21): Show TGAGGCCCTAAGCCCGGCCCGGGGCTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	400	0.0025	-28	c.51 others(39): Show c.5117_*5144delGAGGCCCTAAGCCCGGCCCGGGGCTCCC	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		3440		chr13	TogoVar
F8A3_chrX_155451914_155463620	155463562	TTGAAAGA others(21): Show TTGAAAGAATAGGAGTGGATCTGGCAAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	270	0.0037	-28	c.-49 others(39): Show c.-4990_-4963delGCTTGCCAGATCCACTCCTATTCTTTCA	F8A3	ENSG00000277150.2	transcript	ENST00000622749.2	protein_coding		4943		chrX	TogoVar
FAAP20_chr1_2184548_2199772	2189598	TGCGGGGG others(21): Show TGCGGGGGAGCCGAGAGGCGGGGCTGCTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp1 HG01099.hp2 HG01243.hp2 others(39): Show HG00609.hp1 HG01099.hp2 HG01243.hp2 HG01361.hp2 HG01891.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02523.hp1 HG02572.hp1 HG02615.hp2 HG02717.hp1 HG02818.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA19030.hp1 NA19055.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0005 a0002c0002t0003 others(1): Show a0001c0001t0003 a0001c0001t0005 a0002c0002t0003 a0002c0002t0005	a0001c0001t0003g0009 a0001c0001t0003g0034 a0001c0001t0003g0046 others(5): Show a0001c0001t0003g0009 a0001c0001t0003g0034 a0001c0001t0003g0046 a0001c0001t0005g0018 a0002c0002t0003g0005 a0002c0002t0003g0017 a0002c0002t0003g0037 a0002c0002t0005g0055	42	392	0.1071	-28	c.83 others(36): Show c.83_*110delCAGCAGCCCCGCCTCTCGGCTCCCCCGC	FAAP20	ENSG00000162585.17	transcript	ENST00000378546.9	protein_coding	4/4	83		chr1	TogoVar
FABP1_chr2_88117982_88133062	88128853	GGGGTTAT others(21): Show GGGGTTATGTGTAGGAAACTGGTCTTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01884.hp1 others(41): Show HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03831.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18945.hp2 NA18954.hp1 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0002c0002t0001g0009 a0002c0002t0001g0028 a0002c0002t0001g0029	44	468	0.0940	-28	c.-86 others(37): Show c.-864_-837delTACAAGACCAGTTTCCTACACATAACCC	FABP1	ENSG00000163586.10	transcript	ENST00000295834.8	protein_coding		792		chr2	TogoVar
FADS2_chr11_61823300_61872354	61824431	AGAGGGAG others(21): Show AGAGGGAGGGAGGGAGGGAGGGAGGGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	280	0.0036	-28	c.-39 others(39): Show c.-3959_-3932delGAGGGAGGGAGGGAGGGAGGGAGGGAGG	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding		3868		chr11	TogoVar
FAM107B_chr10_14513557_14779897	14754840	CTTATTGC others(21): Show CTTATTGCAATCCATTACATCCTGAATAT	C C	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	272	0.0037	-28	c.411 others(47): Show c.411+19385_411+19412delATATTCAGGATGTAATGGATTGCAAT AA	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar
FAM107B_chr10_14513557_14779897	14767073	GAGAGAGA others(21): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19240.hp1 HG03139.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0010 a0001c0001t0003g0027 a0001c0001t0001g0010 a0001c0001t0003g0027	2	272	0.0074	-28	c.411 others(45): Show c.411+7152_411+7179delGTCTCTCTCTCTCTCTCTCTCTCTCTCT	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar
FAM120A_chr9_93446685_93571112	93554120	TACACACA others(21): Show TACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	318	0.0031	-28	c.227 others(47): Show c.2275-2229_2275-2202delACACACACACACACACACACACACAC AC	FAM120A	ENSG00000048828.18	transcript	ENST00000277165.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
FAM133A_chrX_93669206_93717265	93679915	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02965.hp1 others(3): Show HG02896.hp2 HG02897.hp1 HG02965.hp1 NA18522.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0080 a0001c0001t0004g0091 others(2): Show a0001c0001t0004g0013 a0001c0001t0004g0080 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0245	6	298	0.0201	-28	c.-19 others(47): Show c.-193+5179_-193+5206delTTTTTTTTTTTTTTTTTTTTTTTTTT TT	FAM133A	ENSG00000179083.7	transcript	ENST00000683942.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAM135B_chr8_138125023_138502261	138192584	AGATTGAT others(21): Show AGATTGATAAACTCGCTCATCTGGTCTTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00558.hp1 others(91): Show HG00140.hp1 HG00280.hp1 HG00558.hp1 HG00558.hp2 HG00673.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02129.hp2 HG02135.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02922.hp2 HG02965.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG04199.hp2 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0012	a0001c0003 a0001c0004 a0001c0005 others(17): Show a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0013 a0001c0022 a0002c0002 a0002c0008 a0002c0019 a0002c0029 a0003c0001 a0003c0014 a0003c0030 a0004c0009 a0005c0011 a0006c0012 a0008c0016 a0010c0027 a0012c0025	a0001c0003t0003 a0001c0003t0010 a0001c0003t0018 others(45): Show a0001c0003t0003 a0001c0003t0010 a0001c0003t0018 a0001c0003t0038 a0001c0004t0001 a0001c0004t0005 a0001c0004t0008 a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 a0001c0006t0001 a0001c0006t0002 a0001c0006t0005 a0001c0007t0003 a0001c0007t0040 a0001c0013t0002 a0001c0022t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0012 a0002c0002t0020 a0002c0002t0024 a0002c0002t0037 a0002c0008t0001 a0002c0019t0015 a0002c0029t0001 a0003c0001t0002 a0003c0001t0004 a0003c0001t0006 a0003c0001t0007 a0003c0001t0009 a0003c0001t0013 a0003c0001t0014 a0003c0001t0020 a0003c0001t0021 a0003c0001t0023 a0003c0001t0030 a0003c0001t0035 a0003c0014t0002 a0003c0030t0007 a0004c0009t0002 a0005c0011t0016 a0006c0012t0002 a0008c0016t0008 a0010c0027t0001 a0012c0025t0002	a0001c0003t0003g0023 a0001c0003t0003g0056 a0001c0003t0003g0077 others(91): Show a0001c0003t0003g0023 a0001c0003t0003g0056 a0001c0003t0003g0077 a0001c0003t0003g0083 a0001c0003t0003g0105 a0001c0003t0010g0195 a0001c0003t0010g0205 a0001c0003t0010g0208 a0001c0003t0018g0178 a0001c0003t0038g0207 a0001c0004t0001g0021 a0001c0004t0001g0034 a0001c0004t0001g0050 a0001c0004t0001g0071 a0001c0004t0001g0095 a0001c0004t0001g0101 a0001c0004t0001g0106 a0001c0004t0005g0203 a0001c0004t0008g0128 a0001c0005t0001g0052 a0001c0005t0001g0057 a0001c0005t0001g0069 a0001c0005t0002g0136 a0001c0005t0002g0141 a0001c0005t0005g0200 a0001c0006t0001g0005 a0001c0006t0002g0152 a0001c0006t0002g0159 a0001c0006t0005g0187 a0001c0007t0003g0054 a0001c0007t0040g0191 a0001c0013t0002g0137 a0001c0022t0003g0011 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0017 a0002c0002t0001g0022 a0002c0002t0001g0028 a0002c0002t0001g0041 a0002c0002t0001g0046 a0002c0002t0001g0053 a0002c0002t0001g0063 a0002c0002t0001g0070 a0002c0002t0001g0075 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0109 a0002c0002t0002g0132 a0002c0002t0005g0197 a0002c0002t0006g0135 a0002c0002t0012g0122 a0002c0002t0012g0124 a0002c0002t0020g0189 a0002c0002t0024g0111 a0002c0002t0037g0201 a0002c0008t0001g0043 a0002c0008t0001g0107 a0002c0019t0015g0112 a0002c0029t0001g0010 a0003c0001t0002g0169 a0003c0001t0004g0012 a0003c0001t0004g0018 a0003c0001t0004g0062 a0003c0001t0004g0100 a0003c0001t0004g0104 a0003c0001t0006g0140 a0003c0001t0006g0171 a0003c0001t0006g0176 a0003c0001t0007g0029 a0003c0001t0007g0051 a0003c0001t0007g0078 a0003c0001t0009g0175 a0003c0001t0013g0185 a0003c0001t0013g0199 a0003c0001t0014g0019 a0003c0001t0014g0027 a0003c0001t0020g0184 a0003c0001t0021g0212 a0003c0001t0023g0024 a0003c0001t0030g0125 a0003c0001t0035g0153 a0003c0014t0002g0149 a0003c0030t0007g0058 a0004c0009t0002g0142 a0004c0009t0002g0145 a0005c0011t0016g0139 a0006c0012t0002g0170 a0008c0016t0008g0127 a0010c0027t0001g0079 a0012c0025t0002g0131	94	212	0.4434	-28	c.873 others(45): Show c.873+2646_873+2673delCAAGACCAGATGAGCGAGTTTATCAATC	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	9/19			chr8	TogoVar
FAM136A_chr2_70290976_70307067	70291014	AACACACA others(21): Show AACACACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00621.hp1 others(49): Show HG00438.hp2 HG00544.hp1 HG00621.hp1 HG00673.hp2 HG00741.hp1 HG01074.hp2 HG01934.hp2 HG01943.hp2 HG02004.hp1 HG02015.hp1 HG02071.hp2 HG02080.hp2 HG02165.hp1 HG02273.hp1 HG02293.hp2 HG02895.hp2 HG03710.hp2 HG04204.hp1 NA18747.hp1 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18967.hp2 NA18969.hp1 NA18975.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18989.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA19000.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp2 NA19067.hp2 NA19083.hp1 NA19084.hp1 NA19086.hp1 NA20805.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0003 a0007c0011t0003 a0001c0001t0003 a0007c0011t0003	a0001c0001t0003g0003 a0001c0001t0003g0008 a0007c0011t0003g0061 a0001c0001t0003g0003 a0001c0001t0003g0008 a0007c0011t0003g0061	52	440	0.1182	-28	c.62 others(39): Show c.6247_*6274delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	FAM136A	ENSG00000035141.10	transcript	ENST00000430566.6	protein_coding		4961		chr2	TogoVar
FAM13A_chr4_88720960_89062185	88995140	TGTATATT others(21): Show TGTATATTTGTTGCACAAATATACAAACA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02922.hp1 HG02965.hp1 others(4): Show HG02486.hp1 HG02922.hp1 HG02965.hp1 HG03209.hp1 HG03579.hp2 HG03704.hp2 NA19043.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0002c0004 a0004c0012	a0001c0001t0003 a0001c0005t0012 a0001c0005t0040 others(4): Show a0001c0001t0003 a0001c0005t0012 a0001c0005t0040 a0002c0002t0017 a0002c0004t0010 a0002c0004t0011 a0004c0012t0002	a0001c0001t0003g0141 a0001c0005t0012g0007 a0001c0005t0040g0164 others(4): Show a0001c0001t0003g0141 a0001c0005t0012g0007 a0001c0005t0040g0164 a0002c0002t0017g0107 a0002c0004t0010g0140 a0002c0004t0011g0163 a0004c0012t0002g0133	7	208	0.0337	-28	c.428 others(45): Show c.428-4018_428-3991delTGTTTGTATATTTGTGCAACAAATATAC	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	3/23			chr4	TogoVar
FAM149A_chr4_186099704_186180337	186136948	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTTTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0006 a0006	a0006c0029 a0006c0029	a0006c0029t0024 a0006c0029t0024	a0006c0029t0024g0256 a0006c0029t0024g0256	1	390	0.0026	-28	c.567 others(47): Show c.567-12209_567-12182delTTCTCTCTCTCTTTCTCTCTCTCTCT CT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149B1_chr10_73163119_73249504	73204944	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18992.hp1 HG02451.hp2 NA18992.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0148 a0003c0003t0001g0107 a0001c0001t0001g0148 a0003c0003t0001g0107	2	236	0.0085	-28	c.543 others(45): Show c.543-3650_543-3623delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	FAM149B1	ENSG00000138286.15	transcript	ENST00000242505.11	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
FAM151B_chr5_80483100_80547563	80538424	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTCTTTCTTTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0096 a0002c0002t0001g0096	1	356	0.0028	-28	c.672 others(45): Show c.672-3247_672-3220delTTCTTTCTTTCTTTCTTTCTTTCTCTTT	FAM151B	ENSG00000152380.10	transcript	ENST00000282226.5	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr5	TogoVar

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