Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
HTRA3_chr4_8264754_8312098	8301262	TTCACACT others(16): Show TTCACACTCATCTTTATTATTGAG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03195.hp1 HG01243.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0163 a0001c0001t0001g0132 a0001c0001t0001g0163	2	388	0.0052	-23	c.105 others(42): Show c.1052-1178_1052-1156delGTCACACTCATCTTTATTATTGA		HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8301285	GTCACACT others(16): Show GTCACACTCATCTTTATTATTGAT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0059 a0002c0002t0010g0059	1	388	0.0026	-23	c.105 others(42): Show c.1052-1155_1052-1133delTTCACACTCATCTTTATTATTGA		HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3074913	CAGCAGCA others(16): Show CAGCAGCAGCAGCAGCAGCAGCAA	C C	frameshift_variant frameshift_variant	HIGH	HG01070.hp1 HG01070.hp1	a0040 a0040	a0040c0045 a0040c0045	a0040c0045t0002 a0040c0045t0002	a0040c0045t0002g0103 a0040c0045t0002g0103	1	294	0.0034	-23	c.89_ others(29): Show c.89_111delAGCAGCAGCAGCAGCAGCAGCAA	p.Gln others(4): Show p.Gln30fs	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	234/13472	89/9429	30/3142			chr4	TogoVar
HTT_chr4_3069681_3248957	3099871	CTTGTATG others(16): Show CTTGTATGGTTTGGAGGTGCTCTG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01243.hp1 HG01243.hp2 others(11): Show HG00609.hp1 HG01243.hp1 HG01243.hp2 HG02055.hp2 HG02145.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02886.hp1 HG02896.hp1 HG03041.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2	a0002 a0014 a0022 others(6): Show a0002 a0014 a0022 a0023 a0075 a0077 a0083 a0090 a0092	a0002c0001 a0014c0014 a0022c0023 others(6): Show a0002c0001 a0014c0014 a0022c0023 a0023c0039 a0075c0094 a0077c0102 a0083c0116 a0090c0126 a0092c0044	a0002c0001t0002 a0014c0014t0003 a0022c0023t0003 others(7): Show a0002c0001t0002 a0014c0014t0003 a0022c0023t0003 a0023c0039t0015 a0023c0039t0016 a0075c0094t0003 a0077c0102t0029 a0083c0116t0016 a0090c0126t0003 a0092c0044t0015	a0002c0001t0002g0263 a0014c0014t0003g0014 a0014c0014t0003g0015 others(11): Show a0002c0001t0002g0263 a0014c0014t0003g0014 a0014c0014t0003g0015 a0014c0014t0003g0021 a0022c0023t0003g0013 a0022c0023t0003g0016 a0022c0023t0003g0019 a0023c0039t0015g0004 a0023c0039t0016g0008 a0075c0094t0003g0064 a0077c0102t0029g0006 a0083c0116t0016g0005 a0090c0126t0003g0018 a0092c0044t0015g0003	14	294	0.0476	-23	c.468 others(38): Show c.468+523_468+545delGTTGTATGGTTTGGAGGTGCTCT		HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	3/66					INFO_REALIGN_3_PRIME	chr4	TogoVar
HUS1_chr7_47958288_47984615	47958789	CTCTCCCT others(16): Show CTCTCCCTCTCCCTCTCCCCACGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0029 a0001c0001t0009g0029	2	410	0.0049	-23	c.65 others(34): Show c.6544_*6566delCCGTGGGGAGAGGGAGAGGGAGA		HUS1	ENSG00000136273.13	transcript	ENST00000258774.10	protein_coding					4498		chr7	TogoVar
HYCC1_chr7_22929211_23019130	22940236	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18943.hp2 NA18984.hp2 NA19005.hp1 others(4): Show NA18943.hp2 NA18984.hp2 NA19005.hp1 NA19058.hp2 NA19062.hp1 NA19066.hp2 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0023 a0001c0002t0018 a0001c0002t0023	a0001c0002t0018g0015 a0001c0002t0018g0211 a0001c0002t0018g0224 others(2): Show a0001c0002t0018g0015 a0001c0002t0018g0211 a0001c0002t0018g0224 a0001c0002t0023g0014 a0001c0002t0023g0222	7	386	0.0181	-23	c.53 others(34): Show c.5330_*5352delAAAAAAAAAAAAAAAAAAAAAAA		HYCC1	ENSG00000122591.13	transcript	ENST00000432176.7	protein_coding	11/11				5330		chr7	TogoVar
HYDIN_chr16_70797084_71235722	70864330	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp1 HG01192.hp1 others(6): Show HG00738.hp2 HG01074.hp1 HG01192.hp1 HG01515.hp1 HG02258.hp2 HG02735.hp1 NA19240.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0014 others(1): Show a0001 a0002 a0014 a0038	a0001c0001 a0001c0051 a0002c0005 others(2): Show a0001c0001 a0001c0051 a0002c0005 a0014c0018 a0038c0080	a0001c0001t0001 a0001c0051t0002 a0002c0005t0001 others(2): Show a0001c0001t0001 a0001c0051t0002 a0002c0005t0001 a0014c0018t0001 a0038c0080t0001	a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 others(6): Show a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0131 a0001c0051t0002g0001 a0002c0005t0001g0133 a0014c0018t0001g0136 a0038c0080t0001g0102	9	174	0.0517	-23	c.114 others(44): Show c.11472-1171_11472-1149delTTTTTTTTTTTTTTTTTTTTTTT		HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	67/85						chr16	TogoVar
HYDIN_chr16_70797084_71235722	70904478	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp2 HG01256.hp2 others(13): Show HG00642.hp1 HG01081.hp2 HG01256.hp2 HG01928.hp1 HG02148.hp2 HG02300.hp1 HG02602.hp1 HG03492.hp2 HG03669.hp2 HG04199.hp1 NA18944.hp1 NA18960.hp2 NA18969.hp2 NA19004.hp2 NA19010.hp1 NA20905.hp2	a0001 a0002 a0020 others(2): Show a0001 a0002 a0020 a0021 a0022	a0001c0001 a0001c0002 a0001c0078 others(4): Show a0001c0001 a0001c0002 a0001c0078 a0002c0003 a0020c0030 a0021c0025 a0022c0026	a0001c0001t0001 a0001c0001t0025 a0001c0001t0028 others(6): Show a0001c0001t0001 a0001c0001t0025 a0001c0001t0028 a0001c0002t0002 a0001c0078t0001 a0002c0003t0002 a0020c0030t0001 a0021c0025t0001 a0022c0026t0001	a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 others(13): Show a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0025g0106 a0001c0001t0028g0077 a0001c0002t0002g0009 a0001c0002t0002g0014 a0001c0002t0002g0016 a0001c0078t0001g0095 a0002c0003t0002g0013 a0020c0030t0001g0059 a0021c0025t0001g0060 a0022c0026t0001g0057	16	174	0.0920	-23	c.851 others(40): Show c.8517-437_8517-415delAAAAAAAAAAAAAAAAAAAAAAA		HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	50/85						chr16	TogoVar
HYOU1_chr11_119039188_119062205	119050719	CCAAAAAA others(16): Show CCAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0117 a0001c0003t0003g0117	1	414	0.0024	-23	c.166 others(40): Show c.1665+293_1665+315delTTTTTTTTTTTTTTTTTTTTTTG		HYOU1	ENSG00000149428.21	transcript	ENST00000617285.5	protein_coding	14/25						chr11	TogoVar
IDE_chr10_92446684_92579093	92564671	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	314	0.0032	-23	c.98+ others(38): Show c.98+9228_98+9250delTTTTTTTTTTTTTTTTTTTTTTT		IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	1/24						chr10	TogoVar
IDNK_chr9_83618143_83649123	83648785	ATTCGTAC others(16): Show ATTCGTACTTTTTTTTTTTTTTTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	332	0.0030	-23	c.50 others(34): Show c.5006_*5028delTTCGTACTTTTTTTTTTTTTTTG		IDNK	ENSG00000148057.16	transcript	ENST00000376419.5	protein_coding					4663		chr9	TogoVar
IFFO2_chr1_18899280_18961676	18951603	TCTACCAG others(16): Show TCTACCAGCCCAGGGCAACTTCCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	376	0.0027	-23	c.665 others(40): Show c.665+4042_665+4064delGGGAAGTTGCCCTGGGCTGGTAG		IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8						chr1	TogoVar
IFI44L_chr1_78615448_78651145	78643629	TGTTTTGT others(16): Show TGTTTTGTTTTTTTTTTGTTGTTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0108 a0002c0002t0108	a0002c0002t0108g0133 a0002c0002t0108g0133	1	430	0.0023	-23	c.18 others(34): Show c.1821_*1843delGTTTTGTTTTTTTTTTGTTGTTG		IFI44L	ENSG00000137959.17	transcript	ENST00000370751.10	protein_coding	9/9				1821		chr1	TogoVar
IFIH1_chr2_162262074_162323684	162314433	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18982.hp1 NA19003.hp2 NA18974.hp2 NA18982.hp1 NA19003.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0055 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0055 a0001c0003t0001g0176 a0001c0003t0001g0177	3	220	0.0136	-23	c.453 others(40): Show c.453+3399_453+3421delGAAAGAAAGAAAGAAAGAAAGAA		IFIH1	ENSG00000115267.10	transcript	ENST00000649979.2	protein_coding	1/15						chr2	TogoVar
IFIH1_chr2_162262074_162323684	162314461	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0193 a0001c0005t0003g0193	1	220	0.0046	-23	c.453 others(40): Show c.453+3371_453+3393delGAAAGAAAGAAAGAAAGAAAGAA		IFIH1	ENSG00000115267.10	transcript	ENST00000649979.2	protein_coding	1/15						chr2	TogoVar
IFIT1_chr10_89387623_89411487	89394591	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0075 a0001c0002t0002g0075	1	430	0.0023	-23	c.5+1 others(36): Show c.5+1875_5+1897delATATATATATATATATATATATA		IFIT1	ENSG00000185745.10	transcript	ENST00000371804.4	protein_coding	1/1						chr10	TogoVar
IFITM10_chr11_1727406_1755595	1743481	TATGGATG others(16): Show TATGGATGGATGGACAGATGGAGA	T T	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	406	0.0025	-23	c.537 others(40): Show c.537+4163_537+4185delTCTCCATCTGTCCATCCATCCAT		IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding	2/2						chr11	TogoVar
IFNLR1_chr1_24149168_24192289	24162713	TTCTTTCT others(16): Show TTCTTTCTTTCTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02155.hp2 HG03453.hp1 others(6): Show HG02027.hp2 HG02155.hp2 HG03453.hp1 HG03834.hp1 NA18949.hp2 NA18963.hp1 NA18964.hp2 NA18992.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 a0001c0006t0008	a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0002g0228 others(6): Show a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0241 a0001c0001t0002g0299 a0001c0001t0005g0090 a0001c0001t0017g0259 a0001c0006t0008g0143	9	396	0.0227	-23	c.368 others(40): Show c.368-1052_368-1030delGAAAGAAAGAAAAGAAAGAAAGA		IFNLR1	ENSG00000185436.12	transcript	ENST00000327535.6	protein_coding	3/6						chr1	TogoVar
IFRD1_chr7_112445460_112482203	112473035	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0155 a0004c0009t0002g0155	1	374	0.0027	-23	c.126 others(40): Show c.1266+175_1266+197delGTGTGTGTGTGTGTGTGTGTGTG		IFRD1	ENSG00000006652.15	transcript	ENST00000403825.8	protein_coding	11/11						chr7	TogoVar
IFT122_chr3_129435224_129525507	129516223	ACACACAC others(16): Show ACACACACAGACTGCCCCTGCGTG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02129.hp1 HG00558.hp2 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0089 a0001c0001t0001g0066 a0001c0001t0001g0089	2	356	0.0056	-23	c.326 others(40): Show c.3265+643_3265+665delGCGTGCACACACAGACTGCCCCT		IFT122	ENSG00000163913.14	transcript	ENST00000348417.7	protein_coding	26/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
IFT122_chr3_129435224_129525507	129516298	ACACACAC others(16): Show ACACACACACAGAGACTGCCCCTG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02055.hp2 HG02083.hp1 others(15): Show HG01255.hp1 HG02055.hp2 HG02083.hp1 HG02135.hp1 HG02559.hp2 HG02615.hp2 HG02896.hp2 HG03453.hp1 HG03491.hp1 HG03834.hp1 HG03942.hp1 HG06807.hp2 NA18522.hp1 NA18943.hp1 NA18952.hp1 NA19240.hp1 NA20300.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0287 a0001c0001t0001g0288 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0004c0006t0001g0289 a0004c0006t0001g0290 a0004c0006t0001g0328	18	356	0.0506	-23	c.326 others(40): Show c.3265+733_3265+755delGAGACTGCCCCTGCACACACACA		IFT122	ENSG00000163913.14	transcript	ENST00000348417.7	protein_coding	26/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
IFT122_chr3_129435224_129525507	129517146	CCTGCACA others(16): Show CCTGCACACACACGGAGACTGCCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp2 NA21309.hp1 HG01884.hp1 HG02809.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115	3	356	0.0084	-23	c.326 others(40): Show c.3266-310_3266-288delGGAGACTGCCTCTGCACACACAC		IFT122	ENSG00000163913.14	transcript	ENST00000348417.7	protein_coding	26/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
IFT140_chr16_1505427_1617072	1516139	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18961.hp2 NA19079.hp2 HG00423.hp2 NA18961.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0003 a0001c0001t0002 a0001c0004t0003	a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0004t0003g0082 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0004t0003g0082	3	334	0.0090	-23	c.418 others(42): Show c.4182+2054_4182+2076delTTTTTTTTTTTTTTTTTTTTTTT		IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	30/30						chr16	TogoVar
IFT140_chr16_1505427_1617072	1556731	CTTTTTTA others(16): Show CTTTTTTATGACAAGGAATTTTTA	C C	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0032 a0002c0003t0003g0032	1	334	0.0030	-23	c.239 others(42): Show c.2399+1181_2399+1203delTAAAAATTCCTTGTCATAAAAAA		IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	19/30						chr16	TogoVar
IFT43_chr14_75980763_76088742	75999248	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02486.hp2 HG03139.hp1 others(1): Show HG01109.hp2 HG02486.hp2 HG03139.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0371 others(1): Show a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0371 a0001c0001t0001g0372	4	396	0.0101	-23	c.147 others(42): Show c.147+10272_147+10294delATATATATATATATATATATATA		IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8						chr14	TogoVar
IFT43_chr14_75980763_76088742	75999252	TATATATA others(16): Show TATATATATATATATATATATGTA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	396	0.0025	-23	c.147 others(42): Show c.147+10276_147+10298delATATATATATATATATATATGTA		IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8						chr14	TogoVar
IFT81_chr12_110119357_110223793	110121713	TTTTTTCT others(16): Show TTTTTTCTTTTTTCTTTTCTTTAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02965.hp2 HG03041.hp1 others(2): Show HG02257.hp1 HG02965.hp2 HG03041.hp1 HG03139.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(2): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0165	5	218	0.0229	-23	c.-31 others(34): Show c.-3169_-3147delTTTTTCTTTTTTCTTTTCTTTAC		IFT81	ENSG00000122970.16	transcript	ENST00000242591.10	protein_coding					2643		chr12	TogoVar
IFT81_chr12_110119357_110223793	110124169	TCCCGTCC others(16): Show TCCCGTCCGCCCCGTCCGCCCCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG03098.hp1 HG02886.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0163 a0001c0001t0001g0164	2	218	0.0092	-23	c.-71 others(32): Show c.-713_-691delCCCGTCCGCCCCGTCCGCCCCGC		IFT81	ENSG00000122970.16	transcript	ENST00000242591.10	protein_coding					187		chr12	TogoVar
IGLON5_chr19_51306644_51335891	51313672	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19060.hp1 HG01496.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0104 a0001c0001t0013g0132 a0001c0001t0002g0104 a0001c0001t0013g0132	2	418	0.0048	-23	c.79+ others(38): Show c.79+1756_79+1778delTCTTTCTTTCTTTCTTCTTTCTT		IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
IL15RA_chr10_5947384_5982543	5958223	TGGAAACA others(16): Show TGGAAACAAACATGGTACAGAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG01168.hp1 others(34): Show HG00280.hp1 HG00609.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01358.hp2 HG01884.hp1 HG01891.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02559.hp2 HG02717.hp1 HG02818.hp1 HG03486.hp1 HG03834.hp2 NA18963.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18978.hp1 NA18981.hp1 NA18989.hp2 NA18992.hp1 NA19009.hp2 NA19030.hp1 NA19063.hp1 NA19068.hp2 NA19077.hp2 NA19087.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0003 a0001c0003t0004	a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0108 others(19): Show a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0108 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0065 a0001c0001t0003g0087 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0124 a0001c0001t0003g0222 a0001c0001t0003g0227 a0001c0003t0003g0005 a0001c0003t0003g0154 a0001c0003t0003g0155 a0001c0003t0003g0158 a0001c0003t0003g0181 a0001c0003t0003g0184 a0001c0003t0003g0189 a0001c0003t0004g0042 a0001c0003t0004g0161 a0001c0003t0004g0162	37	456	0.0811	-23	c.616 others(40): Show c.616+1508_616+1530delTTTTCTGTACCATGTTTGTTTCC		IL15RA	ENSG00000134470.21	transcript	ENST00000379977.8	protein_coding	5/6						chr10	TogoVar
IL17A_chr6_52181375_52195638	52194302	AATAATAT others(16): Show AATAATATATTTATATATTTTTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	462	0.0022	-23	c.50 others(34): Show c.5011_*5033delATAATATATTTATATATTTTTAT		IL17A	ENSG00000112115.7	transcript	ENST00000648244.1	protein_coding					3665		chr6	TogoVar
IL1R2_chr2_101986960_102033544	102003811	CTGTGTCT others(16): Show CTGTGTCTGTGTCTGTGTCTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	426	0.0024	-23	c.-61 others(40): Show c.-61-4703_-61-4681delTGTGTCTGTGTCTGTGTCTGTGT		IL1R2	ENSG00000115590.14	transcript	ENST00000332549.8	protein_coding	1/8						chr2	TogoVar
IL1RAPL1_chrX_28582446_29961718	28737139	TTCCTTCC others(16): Show TTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp1 NA18953.hp1 HG01109.hp1 HG02622.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0063 a0001c0001t0001g0118 a0001c0001t0013g0062 a0001c0001t0001g0063 a0001c0001t0001g0118 a0001c0001t0013g0062	3	135	0.0222	-23	c.-24 others(42): Show c.-24-52179_-24-52157delCCTTCCTTCCTTCCTTCCTTCCT		IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29158940	CTCCCTCC others(16): Show CTCCCTCCCTCTCCCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	135	0.0074	-23	c.83- others(42): Show c.83-123997_83-123975delTCCCTCCCTCTCCCTCTCTCTCT		IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	2/10						chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29562087	ATCTGTCT others(16): Show ATCTGTCTATCTATCTATCTATCT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG02886.hp1 others(1): Show HG02145.hp1 HG02622.hp1 HG02886.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0122 others(1): Show a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0013g0062	4	135	0.0296	-23	c.704 others(44): Show c.704-106342_704-106320delTCTGTCTATCTATCTATCTATCT		IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10						chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105243582	TATGTGTA others(16): Show TATGTGTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	141	0.0071	-23	c.543 others(40): Show c.543+9579_543+9601delATGTGTATATATATATATATATA		IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	4/10						chrX	TogoVar
IL1RL1_chr2_102306563_102357037	102311988	TTATATAT others(16): Show TTATATATAATATATTTATATATA	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA19080.hp2 HG03710.hp1 NA19080.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0123 a0005c0006t0001g0124 a0005c0006t0001g0123 a0005c0006t0001g0124	2	348	0.0058	-23	c.-15 others(40): Show c.-150+367_-150+389delATATATAATATATTTATATATAT		IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
IL26_chr12_68196349_68230810	68210338	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG01069.hp1 others(26): Show HG00323.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01358.hp1 HG01358.hp2 HG01975.hp1 HG02280.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02922.hp2 HG03041.hp1 HG03130.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 NA18972.hp2 NA18998.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0041 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0144 a0001c0001t0001g0166 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0004t0001g0056	29	402	0.0721	-23	c.364 others(40): Show c.364-8278_364-8256delTTTTTTTTTTTTTTTTTTTTTTT		IL26	ENSG00000111536.5	transcript	ENST00000229134.5	protein_coding	3/4						chr12	TogoVar
IL33_chr9_6210807_6262983	6252065	ACCCAACA others(16): Show ACCCAACAAAAAACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0181 a0001c0002t0002g0181	1	362	0.0028	-23	c.344 others(38): Show c.344-800_344-778delCCCAACAAAAAACAAAACAAAAC		IL33	ENSG00000137033.12	transcript	ENST00000682010.1	protein_coding	4/7						chr9	TogoVar
IL34_chr16_70641559_70665682	70644741	GAGGAGGA others(16): Show GAGGAGGAGGGAGGAGGGAGGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG03453.hp2 NA18967.hp1 others(3): Show HG02145.hp1 HG03453.hp2 NA18967.hp1 NA18974.hp2 NA19010.hp1 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0042 a0001c0001t0004g0002 a0001c0001t0004g0162 others(1): Show a0001c0001t0002g0042 a0001c0001t0004g0002 a0001c0001t0004g0162 a0001c0001t0004g0169	6	438	0.0137	-23	c.-22 others(34): Show c.-2206_-2184delAGGAGGAGGGAGGAGGGAGGAAA		IL34	ENSG00000157368.12	transcript	ENST00000288098.7	protein_coding					1817		chr16	TogoVar
IL3RA_chrX_1331785_1387689	1353953	CCATCATG others(16): Show CCATCATGGGTCGTGGGACCCCCA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0003 a0004c0018t0003	a0004c0018t0003g0112 a0004c0018t0003g0112	1	115	0.0087	-23	c.616 others(40): Show c.616+1449_616+1471delATCATGGGTCGTGGGACCCCCAC		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	6/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366001	CGGGGTGA others(16): Show CGGGGTGAGCCGGGTGCCCCGGGT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	115	0.0087	-23	c.874 others(38): Show c.874+751_874+773delGGGTGAGCCGGGTGCCCCGGGTG		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL4_chr5_132668989_132687678	132680071	TGTCACTA others(16): Show TGTCACTAAAGACACGCAGGCCGA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	422	0.0024	-23	c.360 others(38): Show c.360+185_360+207delACTAAAGACACGCAGGCCGAGTC		IL4	ENSG00000113520.11	transcript	ENST00000231449.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
IL7_chr8_78727772_78810463	78806831	GGGGTGAC others(16): Show GGGGTGACAGAGTAAGAGAGAACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0213 a0001c0001t0011g0213	1	264	0.0038	-23	c.-19 others(34): Show c.-1932_-1910delTGTTCTCTCTTACTCTGTCACCC		IL7	ENSG00000104432.15	transcript	ENST00000263851.9	protein_coding					1369		chr8	TogoVar
IMMP2L_chr7_110657644_111567492	111539192	GAGGGAGA others(16): Show GAGGGAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0058 a0001c0002t0004g0058	1	84	0.0119	-23	c.-2- others(40): Show c.-2-17766_-2-17744delTCTTTCTTTCTTTCTTTCTCCCT		IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	1/5						chr7	TogoVar
IMPG1_chr6_75916114_76077662	75974360	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0083 a0003c0003t0014g0083	1	302	0.0033	-23	c.129 others(44): Show c.1292-23289_1292-23267delGAAAGAAAGAAAGAAAGAAAGAA		IMPG1	ENSG00000112706.12	transcript	ENST00000369950.8	protein_coding	12/16						chr6	TogoVar
INAFM1_chr19_47269885_47280723	47274394	CGCGGGAA others(16): Show CGCGGGAACCCGCGCGGGAGGAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	394	0.0025	-23	c.-52 others(32): Show c.-525_-503delGCGGGAACCCGCGCGGGAGGAGA		INAFM1	ENSG00000257704.4	transcript	ENST00000552360.4	protein_coding					490		chr19	TogoVar
INAVA_chr1_200889900_200920742	200915008	AAGCTGCC others(16): Show AAGCTGCCTGTGCTAAGACCACCC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp2 HG01884.hp1 HG01891.hp2 others(11): Show HG01361.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02896.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03516.hp2 HG03669.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0008 a0002c0003t0008 a0001c0001t0008 a0002c0003t0008	a0001c0001t0008g0012 a0001c0001t0008g0084 a0001c0001t0008g0087 others(6): Show a0001c0001t0008g0012 a0001c0001t0008g0084 a0001c0001t0008g0087 a0001c0001t0008g0088 a0001c0001t0008g0089 a0001c0001t0008g0133 a0001c0001t0008g0134 a0001c0001t0008g0137 a0002c0003t0008g0030	14	424	0.0330	-23	c.13 others(34): Show c.1385_*1407delCCTGTGCTAAGACCACCCAGCTG		INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding	10/10				1385	INFO_REALIGN_3_PRIME	chr1	TogoVar
INIP_chr9_112678926_112723117	112707484	GTTTCTTT others(16): Show GTTTCTTTTTTTTCCTCCCGCACA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0061 a0001c0001t0013g0061	1	372	0.0027	-23	c.25+ others(38): Show c.25+8954_25+8976delTGTGCGGGAGGAAAAAAAAGAAA		INIP	ENSG00000148153.14	transcript	ENST00000374242.9	protein_coding	2/4						chr9	TogoVar
INKA2_chr1_111717064_111744395	111740971	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG02559.hp2 others(3): Show HG02145.hp2 HG02257.hp1 HG02559.hp2 HG02723.hp2 HG02922.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0077 a0001c0001t0097 a0001c0001t0027 a0001c0001t0077 a0001c0001t0097	a0001c0001t0027g0044 a0001c0001t0027g0143 a0001c0001t0027g0144 others(2): Show a0001c0001t0027g0044 a0001c0001t0027g0143 a0001c0001t0027g0144 a0001c0001t0077g0101 a0001c0001t0097g0279	6	434	0.0138	-23	c.-17 others(34): Show c.-1752_-1730delTTTTTTTTTTTTTTTTTTTTTTT		INKA2	ENSG00000197852.12	transcript	ENST00000357260.6	protein_coding					1577		chr1	TogoVar

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