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	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
ERICH1_chr8_659200_736224	700515	GGCGCACA others(29): Show GGCGCACAGGCCCGCACAGGCGCACAGGCCCGCACAC	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03831.hp1 HG03490.hp2 HG03492.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0180 a0001c0001t0001g0002 a0001c0001t0001g0180	3	378	0.0079	-36	c.170 others(53): Show c.170-7939_170-7904delGTGTGCGGGCCTGTGCGCCTGTGCGGGC CTGTGCGC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073432	CTATATAT others(29): Show CTATATATATATATATATATATATATATGTATATATA	C C	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	442	0.0023	-36	c.58+ others(51): Show c.58+8723_58+8758delATATATATATGTATATATATATATATATAT ATATAT		ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073480	ATATATGT others(29): Show ATATATGTATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA19012.hp2 NA18964.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0264 a0001c0001t0002g0259 a0001c0001t0002g0264	2	442	0.0045	-36	c.58+ others(51): Show c.58+8759_58+8794delGTATATATATATATATATATATATATATAT GTATAT		ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH6B_chr13_45536294_45620739	45596589	ATACTCTT others(29): Show ATACTCTTCCTCCTCCAGATGCTCTTCCTTCCCCAGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp2 HG00438.hp2 HG00423.hp2 HG00438.hp2	a0021 a0021	a0021c0022 a0021c0022	a0021c0022t0001 a0021c0022t0001	a0021c0022t0001g0285 a0021c0022t0001g0286 a0021c0022t0001g0285 a0021c0022t0001g0286	2	326	0.0061	-36	c.381 others(43): Show c.381_416delCCTGGGGAAGGAAGAGCATCTGGAGGAGGAAGAGTA	p.Leu others(13): Show p.Leu128_Tyr139del	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	3/15	581/2424	381/2091	127/696			chr13	TogoVar
ERMARD_chr6_169746622_169786600	169765858	GCTGTCAA others(29): Show GCTGTCAAATCTCACTGAAGTGATTTCATCAGGCTGT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03516.hp1 HG06807.hp1 HG01099.hp1 HG03516.hp1 HG06807.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0051 a0002c0006t0001g0166 a0002c0006t0001g0051 a0002c0006t0001g0166	3	379	0.0079	-36	c.961 others(51): Show c.961-753_961-718delATCAGGCTGTCTGTCAAATCTCACTGAAGT GATTTC		ERMARD	ENSG00000130023.16	transcript	ENST00000366773.8	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
ERMARD_chr6_169746622_169786600	169765889	GGCTGTCT others(29): Show GGCTGTCTGTCAAATCTCACTGAAGTGATTTCGTCAC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	379	0.0026	-36	c.961 others(51): Show c.961-677_961-642delCGCTGTCTGTCAAATCTCACTGAAGTGATT TCGTCA		ERMARD	ENSG00000130023.16	transcript	ENST00000366773.8	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
ERMN_chr2_157313631_157330824	157322565	ACCGTGAG others(29): Show ACCGTGAGAGTCTATAAGTAAGGTGAGAGGCAATGTT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	368	0.0027	-36	c.335 others(51): Show c.335-810_335-775delAACATTGCCTCTCACCTTACTTATAGACTC TCACGG		ERMN	ENSG00000136541.15	transcript	ENST00000410096.6	protein_coding	2/2						chr2	TogoVar
ERO1A_chr14_52634915_52700558	52665004	GCCTGTAA others(29): Show GCCTGTAATCCCAGCACTTTGGGCATGGTGGCTCACC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01168.hp2 HG01169.hp1 others(5): Show HG00738.hp2 HG01168.hp2 HG01169.hp1 NA18957.hp1 NA18966.hp1 NA18985.hp1 NA19007.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0021 a0001c0001t0009 a0001c0001t0021	a0001c0001t0009g0149 a0001c0001t0009g0162 a0001c0001t0009g0322 others(5): Show a0001c0001t0009g0149 a0001c0001t0009g0162 a0001c0001t0009g0322 a0001c0001t0009g0323 a0001c0001t0009g0324 a0001c0001t0009g0326 a0001c0001t0009g0327 a0001c0001t0021g0325	8	398	0.0201	-36	c.630 others(53): Show c.630-1193_630-1158delGGTGAGCCACCATGCCCAAAGTGCTGGG ATTACAGG		ERO1A	ENSG00000197930.13	transcript	ENST00000395686.8	protein_coding	7/15						chr14	TogoVar
ERO1B_chr1_236210101_236286958	236245524	GTGTATAT others(29): Show GTGTATATATATGTGTGTATGTATGTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0034 a0001c0001t0036g0034	1	396	0.0025	-36	c.432 others(53): Show c.432-2065_432-2030delTATATACACACACATACATACACACATA TATATACA		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15						chr1	TogoVar
ERP44_chr9_99974185_100104000	100061509	TGTATATA others(29): Show TGTATATATTTATAGAAACGTATATATTTATAGAAAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02965.hp2 HG03041.hp1 others(2): Show HG02258.hp1 HG02965.hp2 HG03041.hp1 HG03195.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0004 a0003c0003t0004 a0001c0001t0003 a0001c0001t0004 a0003c0003t0004	a0001c0001t0003g0215 a0001c0001t0004g0213 a0001c0001t0004g0214 others(2): Show a0001c0001t0003g0215 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0217 a0003c0003t0004g0216	5	220	0.0227	-36	c.58- others(51): Show c.58-1373_58-1338delGTTTCTATAAATATATACGTTTCTATAAAT ATATAC		ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11						chr9	TogoVar
ERV3-1_chr7_64985356_65011687	64989443	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG02109.hp2 HG02647.hp2 others(7): Show HG00621.hp2 HG02109.hp2 HG02647.hp2 HG03225.hp2 HG03540.hp2 NA18946.hp2 NA18948.hp2 NA18952.hp1 NA18953.hp2 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0001c0013 a0002c0002 a0001c0012 a0001c0013 a0002c0002	a0001c0012t0009 a0001c0013t0009 a0002c0002t0001 a0001c0012t0009 a0001c0013t0009 a0002c0002t0001	a0001c0012t0009g0121 a0001c0012t0009g0122 a0001c0013t0009g0050 others(3): Show a0001c0012t0009g0121 a0001c0012t0009g0122 a0001c0013t0009g0050 a0002c0002t0001g0002 a0002c0002t0001g0113 a0002c0002t0001g0114	10	458	0.0218	-36	c.17 others(47): Show c.1733_*1768delTATATATATATATATATATATATATATATATATA TA		ERV3-1	ENSG00000213462.5	transcript	ENST00000394323.3	protein_coding					912		chr7	TogoVar
ESCO2_chr8_27769554_27810316	27802621	AAAAAAAA others(29): Show AAAAAAAAAAATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00438.hp2 others(67): Show HG00140.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG01175.hp2 HG01433.hp2 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02165.hp2 HG02293.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02922.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03491.hp2 HG03492.hp1 HG03704.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18940.hp2 NA18942.hp2 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18957.hp2 NA18960.hp1 NA18967.hp1 NA18968.hp1 NA18975.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp2 NA19000.hp1 NA19005.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19068.hp2 NA19074.hp2 NA19075.hp2 NA19078.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp2 NA21309.hp2	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0010	a0001c0001 a0002c0002 a0002c0009 others(2): Show a0001c0001 a0002c0002 a0002c0009 a0009c0011 a0010c0010	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 others(7): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0002c0002t0017 a0002c0002t0021 a0002c0002t0032 a0002c0009t0001 a0009c0011t0001 a0010c0010t0001	a0001c0001t0001g0060 a0002c0002t0001g0001 a0002c0002t0001g0003 others(36): Show a0001c0001t0001g0060 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0009 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0004g0001 a0002c0002t0004g0003 a0002c0002t0004g0004 a0002c0002t0004g0007 a0002c0002t0004g0009 a0002c0002t0004g0018 a0002c0002t0004g0080 a0002c0002t0004g0086 a0002c0002t0004g0091 a0002c0002t0004g0092 a0002c0002t0004g0100 a0002c0002t0004g0101 a0002c0002t0007g0001 a0002c0002t0017g0079 a0002c0002t0021g0001 a0002c0002t0032g0004 a0002c0009t0001g0029 a0009c0011t0001g0001 a0010c0010t0001g0001	70	380	0.1842	-36	c.167 others(53): Show c.1674-683_1674-648delAAAAAAAAATATATATATATATATATAT ATATATTA		ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
ESCO2_chr8_27769554_27810316	27802623	AAAAAAAA others(29): Show AAAAAAAAATATATATATATATATATATATATATTAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03540.hp2 NA19075.hp1 others(1): Show HG02976.hp1 HG03540.hp2 NA19075.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0016 a0001c0001t0007 a0001c0001t0016	a0001c0001t0007g0077 a0001c0001t0016g0016 a0001c0001t0007g0077 a0001c0001t0016g0016	4	380	0.0105	-36	c.167 others(53): Show c.1674-681_1674-646delAAAAAAATATATATATATATATATATAT ATATTATA		ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRRB_chr14_76371137_76506837	76447243	CTCCTTCC others(29): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG01074.hp1 others(30): Show HG00438.hp1 HG00544.hp2 HG01074.hp1 HG01081.hp1 HG01496.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02258.hp1 HG02615.hp1 HG02630.hp2 HG02683.hp2 HG02886.hp2 HG02976.hp1 HG03139.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp1 NA18747.hp1 NA18941.hp1 NA18964.hp2 NA18971.hp2 NA19054.hp1 NA19057.hp2 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0028 a0001c0001t0036 a0002c0003t0003 a0002c0003t0004	a0001c0001t0001g0040 a0001c0001t0001g0103 a0001c0001t0001g0105 others(30): Show a0001c0001t0001g0040 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0132 a0001c0001t0001g0163 a0001c0001t0001g0238 a0001c0001t0001g0286 a0001c0001t0001g0312 a0001c0001t0002g0007 a0001c0001t0002g0038 a0001c0001t0002g0074 a0001c0001t0002g0081 a0001c0001t0002g0199 a0001c0001t0002g0224 a0001c0001t0002g0265 a0001c0001t0002g0301 a0001c0001t0005g0110 a0001c0001t0005g0188 a0001c0001t0006g0211 a0001c0001t0007g0109 a0001c0001t0008g0056 a0001c0001t0008g0076 a0001c0001t0009g0036 a0001c0001t0010g0041 a0001c0001t0010g0126 a0001c0001t0010g0250 a0001c0001t0012g0107 a0001c0001t0028g0261 a0001c0001t0036g0172 a0002c0003t0003g0236 a0002c0003t0004g0059 a0002c0003t0004g0220	33	318	0.1038	-36	c.460 others(53): Show c.460+7516_460+7551delCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTC		ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr14	TogoVar
ETHE1_chr19_43501719_43532201	43507164	CCCCCAGC others(29): Show CCCCCAGCCCTTCCTTCCTCAGACCCAGGAGTCCAGT	C C	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	408	0.0025	-36	c.713 others(51): Show c.713-298_713-263delACTGGACTCCTGGGTCTGAGGAAGGAAGGG CTGGGG		ETHE1	ENSG00000105755.8	transcript	ENST00000292147.7	protein_coding	6/6						chr19	TogoVar
ETS1_chr11_128453765_128592558	128583915	TCACTGCT others(29): Show TCACTGCTCTAGATACCATTTTTTTCTACCTGAACTC	T T	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0118 a0001c0002t0036g0118	1	286	0.0035	-36	c.-15 others(53): Show c.-15+3537_-15+3572delGAGTTCAGGTAGAAAAAAATGGTATCTA GAGCAGTG		ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9						chr11	TogoVar
ETS2_chr21_38800929_38829955	38816006	GGAAGGAG others(29): Show GGAAGGAGGGAGGGAGGGAAGGAAGGAAGGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0267 a0001c0002t0003g0267	1	426	0.0024	-36	c.506 others(51): Show c.506-999_506-964delAGGAGGGAGGGAGGGAAGGAAGGAAGGAAA GAAAGA		ETS2	ENSG00000157557.13	transcript	ENST00000360938.8	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr21	TogoVar
ETV6_chr12_11644674_11900377	11893811	TATATATA others(29): Show TATATATATATATATATATATATATATATATACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG02723.hp2 HG02970.hp2 others(3): Show HG02615.hp2 HG02723.hp2 HG02970.hp2 HG03098.hp1 HG03195.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0025 a0001c0001t0067 a0001c0001t0068 others(2): Show a0001c0001t0025 a0001c0001t0067 a0001c0001t0068 a0001c0002t0132 a0001c0004t0066	a0001c0001t0025g0032 a0001c0001t0025g0089 a0001c0001t0067g0030 others(3): Show a0001c0001t0025g0032 a0001c0001t0025g0089 a0001c0001t0067g0030 a0001c0001t0068g0253 a0001c0002t0132g0002 a0001c0004t0066g0052	6	262	0.0229	-36	c.27 others(47): Show c.2767_*2802delTATATATATATATATATATATATATATATACACA CA		ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	8/8				2767	INFO_REALIGN_3_PRIME	chr12	TogoVar
EVI5_chr1_92503696_92790108	92513531	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0001 a0001c0001t0029g0001	1	168	0.0060	-36	c.89 others(44): Show c.89_*124delCATATATATATATATATATATATATATATATATATA		EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	20/20				89		chr1	TogoVar
EXO1_chr1_241843204_241894939	241869764	TTCCCTCC others(29): Show TTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(262): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18985.hp2 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(24): Show a0001 a0002 a0004 a0006 a0010 a0011 a0013 a0014 a0015 a0019 a0020 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0039 a0040 a0041 a0042 a0043 a0045 a0046	a0001c0001 a0002c0002 a0002c0041 others(27): Show a0001c0001 a0002c0002 a0002c0041 a0002c0044 a0004c0004 a0006c0006 a0010c0009 a0011c0011 a0013c0013 a0014c0012 a0015c0015 a0019c0018 a0020c0020 a0023c0024 a0024c0023 a0025c0026 a0026c0025 a0027c0038 a0027c0039 a0028c0027 a0029c0028 a0030c0030 a0031c0054 a0039c0043 a0040c0042 a0041c0037 a0042c0040 a0043c0045 a0045c0047 a0046c0049	a0001c0001t0002 a0001c0001t0006 a0002c0002t0001 others(44): Show a0001c0001t0002 a0001c0001t0006 a0002c0002t0001 a0002c0002t0005 a0002c0002t0007 a0002c0002t0020 a0002c0041t0014 a0002c0044t0001 a0004c0004t0001 a0004c0004t0005 a0006c0006t0002 a0006c0006t0006 a0006c0006t0007 a0006c0006t0012 a0010c0009t0001 a0010c0009t0005 a0010c0009t0012 a0010c0009t0018 a0011c0011t0001 a0011c0011t0007 a0011c0011t0010 a0011c0011t0014 a0013c0013t0006 a0014c0012t0001 a0015c0015t0001 a0015c0015t0007 a0015c0015t0019 a0019c0018t0007 a0020c0020t0005 a0023c0024t0006 a0023c0024t0021 a0024c0023t0002 a0025c0026t0005 a0026c0025t0001 a0027c0038t0007 a0027c0039t0007 a0028c0027t0003 a0029c0028t0001 a0030c0030t0013 a0031c0054t0001 a0039c0043t0005 a0040c0042t0012 a0041c0037t0001 a0042c0040t0001 a0043c0045t0004 a0045c0047t0001 a0046c0049t0001	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0010 others(204): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0045 a0001c0001t0002g0145 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0220 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0241 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0267 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0286 a0001c0001t0006g0028 a0002c0002t0001g0003 a0002c0002t0001g0012 a0002c0002t0001g0031 a0002c0002t0001g0040 a0002c0002t0001g0146 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0170 a0002c0002t0001g0176 a0002c0002t0001g0186 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0198 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0206 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0223 a0002c0002t0001g0225 a0002c0002t0001g0255 a0002c0002t0001g0272 a0002c0002t0001g0278 a0002c0002t0001g0281 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0005g0158 a0002c0002t0005g0159 a0002c0002t0007g0248 a0002c0002t0007g0269 a0002c0002t0020g0033 a0002c0041t0014g0246 a0002c0044t0001g0224 a0004c0004t0001g0229 a0004c0004t0005g0005 a0004c0004t0005g0043 a0004c0004t0005g0295 a0004c0004t0005g0296 a0004c0004t0005g0297 a0004c0004t0005g0299 a0004c0004t0005g0300 a0004c0004t0005g0301 a0004c0004t0005g0302 a0004c0004t0005g0303 a0004c0004t0005g0305 a0004c0004t0005g0306 a0004c0004t0005g0309 a0004c0004t0005g0313 a0004c0004t0005g0319 a0004c0004t0005g0320 a0004c0004t0005g0321 a0006c0006t0002g0001 a0006c0006t0002g0035 a0006c0006t0002g0237 a0006c0006t0002g0238 a0006c0006t0002g0239 a0006c0006t0002g0240 a0006c0006t0002g0257 a0006c0006t0002g0261 a0006c0006t0002g0265 a0006c0006t0002g0268 a0006c0006t0002g0270 a0006c0006t0002g0285 a0006c0006t0006g0028 a0006c0006t0006g0148 a0006c0006t0006g0150 a0006c0006t0007g0243 a0006c0006t0012g0157 a0010c0009t0001g0004 a0010c0009t0001g0168 a0010c0009t0001g0185 a0010c0009t0001g0242 a0010c0009t0001g0250 a0010c0009t0005g0147 a0010c0009t0005g0149 a0010c0009t0005g0153 a0010c0009t0005g0154 a0010c0009t0005g0155 a0010c0009t0012g0152 a0010c0009t0018g0151 a0010c0009t0018g0156 a0011c0011t0001g0032 a0011c0011t0001g0034 a0011c0011t0001g0169 a0011c0011t0001g0221 a0011c0011t0001g0232 a0011c0011t0001g0244 a0011c0011t0001g0256 a0011c0011t0001g0266 a0011c0011t0007g0173 a0011c0011t0007g0174 a0011c0011t0010g0054 a0011c0011t0014g0179 a0013c0013t0006g0015 a0013c0013t0006g0042 a0013c0013t0006g0044 a0013c0013t0006g0312 a0013c0013t0006g0315 a0013c0013t0006g0316 a0013c0013t0006g0317 a0013c0013t0006g0318 a0013c0013t0006g0322 a0013c0013t0006g0323 a0014c0012t0001g0011 a0014c0012t0001g0182 a0014c0012t0001g0184 a0014c0012t0001g0187 a0014c0012t0001g0188 a0014c0012t0001g0189 a0014c0012t0001g0192 a0014c0012t0001g0203 a0014c0012t0001g0204 a0014c0012t0001g0282 a0015c0015t0001g0004 a0015c0015t0001g0172 a0015c0015t0001g0197 a0015c0015t0001g0207 a0015c0015t0001g0253 a0015c0015t0001g0254 a0015c0015t0007g0245 a0015c0015t0019g0183 a0015c0015t0019g0222 a0019c0018t0007g0165 a0019c0018t0007g0167 a0019c0018t0007g0205 a0019c0018t0007g0213 a0019c0018t0007g0219 a0019c0018t0007g0251 a0019c0018t0007g0252 a0020c0020t0005g0005 a0020c0020t0005g0014 a0020c0020t0005g0298 a0020c0020t0005g0314 a0023c0024t0006g0015 a0023c0024t0021g0310 a0024c0023t0002g0030 a0024c0023t0002g0227 a0025c0026t0005g0304 a0025c0026t0005g0308 a0026c0025t0001g0029 a0027c0038t0007g0171 a0027c0039t0007g0175 a0028c0027t0003g0050 a0028c0027t0003g0051 a0029c0028t0001g0217 a0029c0028t0001g0218 a0030c0030t0013g0081 a0031c0054t0001g0047 a0039c0043t0005g0307 a0040c0042t0012g0311 a0041c0037t0001g0228 a0042c0040t0001g0177 a0043c0045t0004g0049 a0045c0047t0001g0226 a0046c0049t0001g0199	265	416	0.6370	-36	c.126 others(55): Show c.1268-2238_1268-2203delCCTTCCCTCCCTCCCTCCCTCCTTCC TTCCTTCCTT		EXO1	ENSG00000174371.17	transcript	ENST00000366548.8	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
EXOC3_chr5_438176_472290	443202	AGGCAGCG others(29): Show AGGCAGCGAAGGCGGAGGGGGCGGCGGGGGCGGCGGC	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18971.hp1 NA19065.hp2 NA18971.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0003 a0001c0001t0022g0133 a0001c0001t0022g0003 a0001c0001t0022g0133	2	418	0.0048	-36	c.-14 others(45): Show c.-141_-106delAGCGAAGGCGGAGGGGGCGGCGGGGGCGGCGGCGGC		EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding	1/13				2965	INFO_REALIGN_3_PRIME	chr5	TogoVar
EXOC3_chr5_438176_472290	443229	GGGCGGCG others(29): Show GGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01257.hp1 NA18943.hp2 HG01257.hp1 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0006 a0001c0002t0020g0077 a0001c0002t0020g0006 a0001c0002t0020g0077	2	418	0.0048	-36	c.-10 others(44): Show c.-104_-69delGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG		EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding	1/13				2928	INFO_REALIGN_3_PRIME	chr5	TogoVar
EXOC4_chr7_133248078_134070761	133755237	ATATATAA others(29): Show ATATATAATATATATATTATATATATATTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02280.hp1 HG02622.hp1 others(2): Show HG00738.hp2 HG02280.hp1 HG02622.hp1 HG02896.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0004	a0001c0001t0003g0055 a0001c0002t0001g0092 a0001c0002t0002g0071 others(2): Show a0001c0001t0003g0055 a0001c0002t0001g0092 a0001c0002t0002g0071 a0001c0002t0003g0056 a0001c0003t0004g0093	5	102	0.0490	-36	c.151 others(57): Show c.1515-62081_1515-62046delATATATATATTATATATATATTAT ATATATTATATA		EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	10/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857300	CGTATATA others(29): Show CGTATATATATATATATATATACACGTATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02080.hp2 NA19056.hp2 HG02071.hp2 HG02080.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0001c0001t0001 a0001c0001t0002 a0001c0004t0002	a0001c0001t0001g0027 a0001c0001t0002g0003 a0001c0004t0002g0029 a0001c0001t0001g0027 a0001c0001t0002g0003 a0001c0004t0002g0029	3	102	0.0294	-36	c.173 others(57): Show c.1735-38298_1735-38263delGTATATATATATATATATATACAC GTATATATATAT		EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17						chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857301	GTATATAT others(29): Show GTATATATATATATATATATACACGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0015 a0001c0003t0002g0015	1	102	0.0098	-36	c.173 others(57): Show c.1735-38277_1735-38242delCACGTATATATATATATATATATA TATATATATATA		EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72512331	GGAAGGAA others(29): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0064 a0001c0002t0002g0064	1	104	0.0096	-36	c.116 others(53): Show c.1167+765_1167+800delTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTC		EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	11/21						chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631441	TATATATA others(29): Show TATATATATATATATATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0100 a0001c0003t0001g0100	1	104	0.0096	-36	c.670 others(55): Show c.670-55809_670-55774delCTCTCTCTCTCTCTCTATATATATAT ATATATATAT		EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21						chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631445	TATATATA others(29): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03490.hp1 HG03927.hp2 others(1): Show HG00323.hp2 HG03490.hp1 HG03927.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0015 a0001c0003t0001 a0001c0003t0015	a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0098 others(1): Show a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0098 a0001c0003t0015g0090	4	104	0.0385	-36	c.670 others(55): Show c.670-55813_670-55778delCTCTCTCTCTCTCTCTCTCTATATAT ATATATATAT		EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21						chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631447	TATATATA others(29): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02559.hp1 HG01981.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0084 a0001c0003t0001g0091 a0001c0003t0001g0084 a0001c0003t0001g0091	2	104	0.0192	-36	c.670 others(55): Show c.670-55815_670-55780delCTCTCTCTCTCTCTCTCTCTCTATAT ATATATATAT		EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21						chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631449	TATATATA others(29): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01516.hp2 HG00642.hp1 HG00735.hp2 HG01516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0004 a0001c0003t0023 a0001c0003t0003 a0001c0003t0004 a0001c0003t0023	a0001c0003t0003g0096 a0001c0003t0004g0094 a0001c0003t0023g0092 a0001c0003t0003g0096 a0001c0003t0004g0094 a0001c0003t0023g0092	3	104	0.0289	-36	c.670 others(55): Show c.670-55817_670-55782delCTCTCTCTCTCTCTCTCTCTCTCTAT ATATATATAT		EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21						chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631451	TATATATA others(29): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	104	0.0096	-36	c.670 others(55): Show c.670-55819_670-55784delCTCTCTCTCTCTCTCTCTCTCTCTCT ATATATATAT		EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21						chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631455	TATATATA others(29): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0093 a0001c0003t0001g0093	1	104	0.0096	-36	c.670 others(55): Show c.670-55823_670-55788delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTATATAT		EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21						chr2	TogoVar
EXOG_chr3_38491340_38531303	38492731	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00673.hp2 others(55): Show HG00140.hp1 HG00408.hp2 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01099.hp2 HG01106.hp2 HG01175.hp2 HG01192.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01943.hp1 HG02015.hp2 HG02135.hp1 HG02145.hp1 HG02273.hp1 HG02602.hp2 HG02735.hp2 HG02738.hp1 HG02886.hp2 HG03017.hp1 HG03225.hp1 HG03486.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 NA18939.hp2 NA18941.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18975.hp1 NA19007.hp1 NA19009.hp1 NA19054.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19068.hp1 NA19079.hp1 NA19082.hp1 NA19086.hp2 NA19089.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0003c0004t0002	a0001c0001t0001g0037 a0001c0001t0002g0001 a0001c0001t0002g0006 others(20): Show a0001c0001t0001g0037 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0011g0001 a0001c0001t0011g0082 a0003c0004t0002g0001	58	412	0.1408	-36	c.-36 others(47): Show c.-3636_-3601delACACACACACACACACACACACACACACACACAC AC		EXOG	ENSG00000157036.13	transcript	ENST00000287675.10	protein_coding					3608		chr3	TogoVar
EXOG_chr3_38491340_38531303	38492769	CACACACA others(29): Show CACACACACACACACACACACACACACACACACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03579.hp2 HG02896.hp1 HG02897.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0042 a0001c0001t0003g0030 a0001c0001t0003g0042	3	412	0.0073	-36	c.-35 others(47): Show c.-3598_-3563delACACACACACACACACACACACACACACACACAC AT		EXOG	ENSG00000157036.13	transcript	ENST00000287675.10	protein_coding					3570		chr3	TogoVar
EXT1_chr8_117789490_118116826	117858844	GGAAAGAA others(29): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03195.hp1 NA18990.hp2 others(1): Show HG00639.hp2 HG03195.hp1 NA18990.hp2 NA18999.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0001 a0001c0004t0012 a0001c0005t0010 a0001c0004t0001 a0001c0004t0012 a0001c0005t0010	a0001c0004t0001g0043 a0001c0004t0001g0101 a0001c0004t0012g0171 others(1): Show a0001c0004t0001g0043 a0001c0004t0001g0101 a0001c0004t0012g0171 a0001c0005t0010g0125	4	190	0.0211	-36	c.963 others(55): Show c.963-21679_963-21644delTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC		EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10						chr8	TogoVar
EYA2_chr20_46889843_47193844	46987958	CTCTCTCT others(29): Show CTCTCTCTATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG02970.hp1 others(3): Show HG02055.hp2 HG02559.hp1 HG02970.hp1 NA18522.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0008 a0001c0001t0002g0150 a0001c0001t0003g0092 others(3): Show a0001c0001t0001g0008 a0001c0001t0002g0150 a0001c0001t0003g0092 a0001c0001t0003g0119 a0001c0002t0001g0236 a0001c0003t0001g0238	6	238	0.0252	-36	c.-10 others(53): Show c.-10-2041_-10-2006delCTCTCTATATATATATATATATATATAT ATATATAT		EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
EYS_chr6_63714980_65712226	64296564	ATATATAT others(29): Show ATATATATATATATATATATACATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0012 a0001c0009t0001g0012	1	24	0.0417	-36	c.619 others(57): Show c.6191+10370_6191+10405delAATATATATATATATGTATATATA TATATATATATA		EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	30/42						chr6	TogoVar
EZR_chr6_158760748_158824368	158803570	TATATATA others(29): Show TATATATATATACATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA19084.hp1 HG01192.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0122 a0001c0001t0023g0056 a0001c0001t0001g0122 a0001c0001t0023g0056	2	312	0.0064	-36	c.13- others(53): Show c.13-14235_13-14200delGTATATATATATATATATATATATGTAT ATATATAT		EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13						chr6	TogoVar
F13A1_chr6_6139084_6325662	6316078	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0009 a0004c0004t0009	a0004c0004t0009g0012 a0004c0004t0009g0012	1	292	0.0034	-36	c.130 others(53): Show c.130+2421_130+2456delATATATATATATATATATATATATATAT ATATATAT		F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	2/14						chr6	TogoVar
FAAH2_chrX_57281706_57494193	57352046	ATGTGTAT others(29): Show ATGTGTATATATATATATATACACATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02257.hp1 HG02922.hp1 others(3): Show HG00733.hp2 HG02257.hp1 HG02922.hp1 HG03098.hp1 HG03225.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 others(3): Show a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0099 a0001c0001t0001g0126 a0001c0001t0001g0131	6	282	0.0213	-36	c.742 others(55): Show c.742+10658_742+10693delGTGTATATATATATATATACACATAT ATATATGTGT		FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	5/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
FAAH_chr1_46389317_46418845	46402196	GTGGGAAA others(29): Show GTGGGAAAGGTAAGGCCAGCCAAGGCCAGCCCCTCCC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01884.hp2 HG03139.hp2 others(6): Show HG00544.hp2 HG01884.hp2 HG03139.hp2 HG03516.hp1 HG03834.hp2 NA18959.hp1 NA18969.hp1 NA19009.hp2 NA19054.hp2	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0002 a0003c0006t0001 a0003c0004t0002 a0003c0006t0001	a0003c0004t0002g0018 a0003c0004t0002g0020 a0003c0004t0002g0045 others(4): Show a0003c0004t0002g0018 a0003c0004t0002g0020 a0003c0004t0002g0045 a0003c0004t0002g0076 a0003c0004t0002g0137 a0003c0006t0001g0134 a0003c0006t0001g0135	9	370	0.0243	-36	c.309 others(49): Show c.309+30_309+65delGGGAAAGGTAAGGCCAGCCAAGGCCAGCCCCT CCCT		FAAH	ENSG00000117480.16	transcript	ENST00000243167.9	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
FADS6_chr17_74872302_74898633	74893497	CGGTTCCA others(29): Show CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp1 HG04199.hp1 HG00639.hp1 HG04199.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0002 a0009c0014t0001 a0009c0014t0002	a0009c0014t0001g0075 a0009c0014t0002g0076 a0009c0014t0001g0075 a0009c0014t0002g0076	2	440	0.0046	-36	c.63_ others(41): Show c.63_98delTACGGAGCCCATGGAACCTACGGAGCCCATGGAACC	p.Thr others(11): Show p.Thr22_Pro33del	FADS6	ENSG00000172782.13	transcript	ENST00000612771.5	protein_coding	1/6	136/2174	63/1107	21/368			chr17	TogoVar
FAF1_chr1_50432028_50965267	50819730	CATATATA others(29): Show CATATATATACATATATATATACATATATATATACGT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0184 a0001c0001t0010g0184	1	190	0.0053	-36	c.115 others(55): Show c.115-18089_115-18054delACGTATATATATATGTATATATATAT GTATATATAT		FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	2/18						chr1	TogoVar
FAF1_chr1_50432028_50965267	50819764	CGTATATA others(29): Show CGTATATATATATACATATATATACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0183 a0001c0001t0010g0183	1	190	0.0053	-36	c.115 others(55): Show c.115-18123_115-18088delATATATATATATGTATATATATGTAT ATATATATAC		FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	2/18						chr1	TogoVar
FAF2_chr5_176443385_176515074	176451839	TATACACA others(29): Show TATACACACATATATATACACATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	372	0.0027	-36	c.63+ others(51): Show c.63+3373_63+3408delCACACATATATATACACATATATATATACA CACATA		FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
FAF2_chr5_176443385_176515074	176451868	ATACACAC others(29): Show ATACACACATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0247 a0001c0001t0006g0247	1	372	0.0027	-36	c.63+ others(51): Show c.63+3400_63+3435delACACACATATATATATATATATATTTTTTT TTTTTT		FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM107B_chr10_14513557_14779897	14767037	TATATATA others(29): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0005 a0001c0001t0011g0005	1	272	0.0037	-36	c.411 others(53): Show c.411+7180_411+7215delCTCTCTCTCTCTCTCTCTATATATATAT ATATATAT		FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4						chr10	TogoVar
FAM117B_chr2_202629969_202774757	202640295	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0231 a0001c0001t0070g0231	1	318	0.0031	-36	c.601 others(53): Show c.601+4520_601+4555delATATATATATATATATATATATATATAT ATATATAT		FAM117B	ENSG00000138439.12	transcript	ENST00000392238.3	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM135B_chr8_138125023_138502261	138188002	TTCACCTG others(29): Show TTCACCTGCTAGGAGGATGGTGTACAGGTGAGGACAC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0208 a0001c0003t0010g0208	1	212	0.0047	-36	c.873 others(53): Show c.873+7220_873+7255delGTGTCCTCACCTGTACACCATCCTCCTA GCAGGTGA		FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	9/19						chr8	TogoVar
FAM135B_chr8_138125023_138502261	138425984	TATATATA others(29): Show TATATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03491.hp1 HG02056.hp1 HG03491.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0005 a0002c0002t0001 a0001c0005t0005 a0002c0002t0001	a0001c0005t0005g0200 a0002c0002t0001g0108 a0001c0005t0005g0200 a0002c0002t0001g0108	2	212	0.0094	-36	c.-19 others(55): Show c.-19-58018_-19-57983delGTGTGTGTATATATATATATATATAT ATATATATAT		FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	1/19						chr8	TogoVar

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