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 limited to 10,000 hits. Refine your search for more specific results.

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
HTR1F_chr3_87787706_87998839	87979075	G G	GGGAGGGG others(12): Show GGGAGGGGGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	250	0.0040	19	c.-42 others(38): Show c.-42-11631_-42-11630insAGGGGGGGAGGGAGGGAGG	HTR1F	ENSG00000179097.7	transcript	ENST00000319595.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
HTR2C_chrX_114579086_114915061	114734564	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02738.hp1 HG03041.hp1 others(5): Show HG02630.hp2 HG02738.hp1 HG03041.hp1 NA18967.hp1 NA19081.hp2 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0002c0002t0008 others(1): Show a0001c0001t0002 a0002c0002t0002 a0002c0002t0008 a0002c0002t0010	a0001c0001t0002g0004 a0001c0001t0002g0006 a0002c0002t0002g0045 others(5): Show a0001c0001t0002g0004 a0001c0001t0002g0006 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0008g0053 a0002c0002t0010g0039	8	176	0.0455	19	c.349 others(36): Show c.349+2967_349+2985dupAAAAAAAAAAAAAAAAAAA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114741524	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0162 a0001c0001t0001g0164	2	176	0.0114	19	c.349 others(36): Show c.349+9924_349+9942dupAAAAAAAAAAAAAAAAAAA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114761990	C C	CATATGTG others(12): Show CATATGTGTATATATACGTG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19079.hp1 NA18944.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0122 a0001c0001t0001g0124	2	176	0.0114	19	c.349 others(38): Show c.349+30383_349+30384insATATGTGTATATATACGTG	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5			chrX	TogoVar
HTR3B_chr11_113899796_113954079	113926517	C C	CCTTTCCT others(12): Show CCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0204 a0002c0002t0006g0204	1	418	0.0024	19	c.214 others(36): Show c.214-4866_214-4848dupCTTTCCTTTCCTTTCCTTT	HTR3B	ENSG00000149305.8	transcript	ENST00000260191.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
HTR4_chr5_148476547_148659527	148547562	A A	AAAATAAA others(12): Show AAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02738.hp1 NA18747.hp1 others(5): Show HG02300.hp2 HG02738.hp1 NA18747.hp1 NA18945.hp1 NA18949.hp2 NA18962.hp2 NA18981.hp1 NA19082.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0007 a0001c0001 a0001c0004 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0004c0007t0002	a0001c0001t0001g0291 a0001c0001t0002g0006 a0001c0001t0002g0011 others(5): Show a0001c0001t0001g0291 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0056 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0004t0001g0262 a0004c0007t0002g0026	8	310	0.0258	19	c.353 others(36): Show c.353+1105_353+1106insATTTTATTTTATTTTATTT	HTR4	ENSG00000164270.19	transcript	ENST00000377888.8	protein_coding	4/6			chr5	TogoVar
HTR7_chr10_90735823_90863039	90743876	C C	CTCATCTA others(12): Show CTCATCTATTCAACAGCTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0059 a0001c0001t0006g0059	1	404	0.0025	19	c.129 others(36): Show c.1296-187_1296-186insAAAGCTGTTGAATAGATGA	HTR7	ENSG00000148680.16	transcript	ENST00000336152.8	protein_coding	2/3			chr10	TogoVar
HTRA1_chr10_122456553_122519907	122496225	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0226 a0001c0002t0001g0226	1	362	0.0028	19	c.777 others(36): Show c.777+6601_777+6602insTTTTTTTTTTTTTTTTTTT	HTRA1	ENSG00000166033.13	transcript	ENST00000368984.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
HUS1B_chr6_650939_662100	658666	T T	TATATATA others(12): Show TATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0007 a0008c0017t0007	a0008c0017t0007g0000 a0008c0017t0007g0000	1	432	0.0023	19	c.-17 others(30): Show c.-1723_-1722insTATATATATATATATATAT	HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding		1567		chr6	TogoVar
HYAL1_chr3_50294893_50308574	50304296	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	19	c.-85 others(28): Show c.-856_-855insATATATATATATTTTTTTT	HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding		723		chr3	TogoVar
HYAL1_chr3_50294893_50308574	50304296	A A	AAATATAT others(12): Show AAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	19	c.-85 others(28): Show c.-856_-855insATATATATATATATATATT	HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding		723		chr3	TogoVar
HYAL2_chr3_50312808_50327745	50315844	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG02976.hp2 others(7): Show HG01243.hp1 HG02451.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 NA18906.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0001 a0004c0005t0001 a0002c0002t0001 a0004c0005t0001	a0002c0002t0001g0008 a0004c0005t0001g0020 a0002c0002t0001g0008 a0004c0005t0001g0020	10	354	0.0283	19	c.22 others(30): Show c.2284_*2285insAAAAAAAAAAAAAAAAAAA	HYAL2	ENSG00000068001.14	transcript	ENST00000357750.9	protein_coding		1963		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304296	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	19	c.-51 others(30): Show c.-5102_-5101insATATATATATATTTTTTTT	HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding		4892		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304296	A A	AAATATAT others(12): Show AAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	19	c.-51 others(30): Show c.-5102_-5101insATATATATATATATATATT	HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding		4892		chr3	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0040 a0040	a0040c0085 a0040c0085	a0040c0085t0007 a0040c0085t0007	a0040c0085t0007g0137 a0040c0085t0007g0137	1	174	0.0058	19	c.884 others(36): Show c.8849+803_8849+804insAAAAAAAAAAAAAAATATA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp2 NA18957.hp1 NA18957.hp2	a0002 a0011 a0002 a0011	a0002c0005 a0011c0027 a0002c0005 a0011c0027	a0002c0005t0004 a0011c0027t0001 a0002c0005t0004 a0011c0027t0001	a0002c0005t0004g0097 a0011c0027t0001g0064 a0002c0005t0004g0097 a0011c0027t0001g0064	2	174	0.0115	19	c.884 others(36): Show c.8849+803_8849+804insAAAAAAAAAAAAAAAAATA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70902822	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0005 a0003c0022t0005	a0003c0022t0005g0046 a0003c0022t0005g0046	1	174	0.0058	19	c.884 others(36): Show c.8849+802_8849+803insTATATATATATATATATAT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70904518	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	174	0.0058	19	c.851 others(36): Show c.8517-455_8517-454insCAAAAAAAAAAAAAAAAAA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	50/85			chr16	TogoVar
HYKK_chr15_78502577_78541645	78504595	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG02015.hp2 HG02080.hp1 others(13): Show HG00438.hp1 HG02015.hp2 HG02080.hp1 HG02129.hp2 HG02165.hp2 HG02738.hp2 HG03834.hp2 HG03942.hp1 NA18612.hp2 NA18747.hp1 NA18955.hp1 NA18999.hp1 NA19000.hp2 NA19074.hp1 NA19082.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0029 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0029 a0001c0002t0002 a0001c0002t0011	a0001c0001t0001g0021 a0001c0001t0001g0109 a0001c0001t0001g0202 others(13): Show a0001c0001t0001g0021 a0001c0001t0001g0109 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0259 a0001c0001t0004g0055 a0001c0001t0004g0289 a0001c0001t0029g0062 a0001c0002t0002g0018 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0097 a0001c0002t0002g0100 a0001c0002t0011g0019 a0001c0002t0011g0123	16	412	0.0388	19	c.-30 others(30): Show c.-3082_-3081insAAAAAAAAAAAAAAAAAAA	HYKK	ENSG00000188266.14	transcript	ENST00000388988.9	protein_coding		2981		chr15	TogoVar
HYLS1_chr11_125882668_125905646	125904265	T T	TCGCCCCG others(12): Show TCGCCCCGCTCTCTGCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02451.hp1 others(5): Show HG01891.hp1 HG02258.hp2 HG02451.hp1 HG02622.hp1 HG02970.hp1 HG02976.hp1 HG03195.hp1 HG03491.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0005 a0001c0001 a0003c0003 a0005c0005	a0001c0001t0003 a0003c0003t0003 a0005c0005t0003 a0001c0001t0003 a0003c0003t0003 a0005c0005t0003	a0001c0001t0003g0003 a0001c0001t0003g0015 a0001c0001t0003g0046 others(3): Show a0001c0001t0003g0003 a0001c0001t0003g0015 a0001c0001t0003g0046 a0001c0001t0003g0104 a0003c0003t0003g0026 a0005c0005t0003g0120	8	436	0.0184	19	c.39 others(30): Show c.3997_*3998insCGCCCCGCTCTCTGCCCTC	HYLS1	ENSG00000198331.11	transcript	ENST00000425380.7	protein_coding		3620		chr11	TogoVar
HYPK_chr15_43795599_43809427	43802569	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0033	a0002c0002t0033g0001 a0002c0002t0033g0001	1	356	0.0028	19	c.76 others(28): Show c.767_*785dupAAAAAAAAAAAAAAAAAAA	HYPK	ENSG00000242028.8	transcript	ENST00000442995.4	protein_coding	4/4	786	INFO_REALIGN_3_PRIME	chr15	TogoVar
IAH1_chr2_9469551_9494742	9489259	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp1 NA18522.hp2 HG03098.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0050 a0001c0001t0032g0050	2	342	0.0059	19	c.93 others(28): Show c.936_*954dupTTTTTTTTTTTTTTTTTTT	IAH1	ENSG00000134330.19	transcript	ENST00000497473.6	protein_coding	6/6	955	INFO_REALIGN_3_PRIME	chr2	TogoVar
ICAM2_chr17_63997595_64025633	64014330	G G	GGAAGGAA others(12): Show GGAAGGAAGGAAGGAAGAAA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	392	0.0026	19	c.-45 others(36): Show c.-45+6192_-45+6193insTTTCTTCCTTCCTTCCTTC	ICAM2	ENSG00000108622.11	transcript	ENST00000579788.6	protein_coding	1/4			chr17	TogoVar
ICE2_chr15_60414609_60484142	60416205	T T	TCAAGTGA others(12): Show TCAAGTGATTCTCCTGCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(29): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00544.hp2 HG00621.hp2 HG01074.hp1 HG01109.hp2 HG01168.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01515.hp1 HG01891.hp2 HG02165.hp2 HG02738.hp1 HG03831.hp1 NA18612.hp1 NA18954.hp1 NA18960.hp2 NA18961.hp2 NA18977.hp2 NA18978.hp2 NA18983.hp1 NA18991.hp2 NA18992.hp1 NA19006.hp2 NA19075.hp1 NA19075.hp2 NA19086.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0027 a0001c0002t0001 a0001c0001t0003 a0001c0001t0027 a0001c0002t0001	a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 others(26): Show a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0059 a0001c0001t0003g0132 a0001c0001t0027g0040 a0001c0002t0001g0053 a0001c0002t0001g0080	32	270	0.1185	19	c.74 others(30): Show c.7428_*7429insGAGGCAGGAGAATCACTTG	ICE2	ENSG00000128915.12	transcript	ENST00000261520.9	protein_coding		3403		chr15	TogoVar
ICOS_chr2_203931763_203966577	203966052	A A	AGTGGGAG others(12): Show AGTGGGAGGGAAAGAAGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	430	0.0023	19	c.64 others(30): Show c.6453_*6454insGTGGGAGGGAAAGAAGGAT	ICOS	ENSG00000163600.13	transcript	ENST00000316386.11	protein_coding		4476		chr2	TogoVar
IDE_chr10_92446684_92579093	92552857	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01361.hp1 HG01952.hp2 others(9): Show HG00735.hp2 HG01361.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp2 HG03209.hp1 HG03516.hp1 NA19010.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0016	a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0002g0247 others(9): Show a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0002g0247 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0299 a0001c0001t0003g0182 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0194 a0001c0001t0014g0174 a0001c0001t0016g0280	12	314	0.0382	19	c.99- others(36): Show c.99-15326_99-15308dupTTTTTTTTTTTTTTTTTTT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	1/24			chr10	TogoVar
IDH2_chr15_90078045_90107468	90102758	C C	CCCCATGT others(12): Show CCCCATGTAAACCTGGATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	440	0.0023	19	c.-36 others(28): Show c.-369_-368insACATCCAGGTTTACATGGG	IDH2	ENSG00000182054.10	transcript	ENST00000330062.8	protein_coding		291		chr15	TogoVar
IDH3A_chr15_78144362_78176945	78158464	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0240 a0001c0002t0001g0240	1	386	0.0026	19	c.174 others(34): Show c.174+833_174+834insATATATATATATATATATA	IDH3A	ENSG00000166411.14	transcript	ENST00000299518.7	protein_coding	3/10			chr15	TogoVar
IDI1_chr10_1034419_1054119	1044595	T T	TCCCCCCC others(12): Show TCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	438	0.0023	19	c.141 others(34): Show c.141-425_141-424insGGGGGGGGGGGGGGGGGGG	IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4			chr10	TogoVar
IER3IP1_chr18_47147834_47181364	47179060	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 NA18995.hp2 HG03471.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0200 a0001c0001t0011g0068 a0001c0001t0004g0200 a0001c0001t0011g0068	2	378	0.0053	19	c.-27 others(30): Show c.-2784_-2783insTTTTTTTTTTTTTTTTTTT	IER3IP1	ENSG00000134049.6	transcript	ENST00000256433.6	protein_coding		2697		chr18	TogoVar
IFI27L2_chr14_94122781_94134604	94124920	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01928.hp1 HG02135.hp2 others(2): Show HG01243.hp2 HG01928.hp1 HG02135.hp2 HG02257.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	5	433	0.0116	19	c.28 others(30): Show c.2878_*2879insAAAAAAAAAAAAAAAAAAA	IFI27L2	ENSG00000119632.4	transcript	ENST00000238609.4	protein_coding		2860		chr14	TogoVar
IFI35_chr17_43001784_43019456	43007847	T T	TTTATATA others(12): Show TTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	340	0.0029	19	c.21+ others(32): Show c.21+880_21+881insTATATATATATATATATAT	IFI35	ENSG00000068079.8	transcript	ENST00000415816.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
IFIH1_chr2_162262074_162323684	162314416	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0071 a0002c0001t0001g0071	1	220	0.0046	19	c.453 others(36): Show c.453+3438_453+3439insGAAAGAAAGAAAGAAAGAA	IFIH1	ENSG00000115267.10	transcript	ENST00000649979.2	protein_coding	1/15			chr2	TogoVar
IFITM5_chr11_293200_304526	300207	C C	CACTCCCC others(12): Show CACTCCCCTCAGCCTCCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02970.hp2 HG02486.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0003 a0001c0001t0001g0005	2	434	0.0046	19	c.-71 others(28): Show c.-718_-717insCGAGGAGGCTGAGGGGAGT	IFITM5	ENSG00000206013.2	transcript	ENST00000382614.2	protein_coding		682		chr11	TogoVar
IFNA4_chr9_21181618_21192587	21184228	C C	CCTTCTTT others(12): Show CCTTCTTTCTTTCTTTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	428	0.0023	19	c.27 others(30): Show c.2733_*2734insAGAGAAAGAAAGAAAGAAG	IFNA4	ENSG00000236637.5	transcript	ENST00000421715.3	protein_coding		2389		chr9	TogoVar
IFNA7_chr9_21196469_21207205	21197970	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01515.hp1 NA18612.hp1 others(3): Show HG01099.hp2 HG01515.hp1 NA18612.hp1 NA18942.hp2 NA18970.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	456	0.0132	19	c.36 others(30): Show c.3625_*3626insTTTTTTTTTTTTTTTTTTT	IFNA7	ENSG00000214042.1	transcript	ENST00000239347.3	protein_coding		3498		chr9	TogoVar
IFNA7_chr9_21196469_21207205	21197987	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	456	0.0022	19	c.36 others(30): Show c.3608_*3609insCTTTTTTTTTTTTTTTTTT	IFNA7	ENSG00000214042.1	transcript	ENST00000239347.3	protein_coding		3481		chr9	TogoVar
IFNAR1_chr21_33319970_33364864	33322586	T T	TATGGAAT others(12): Show TATGGAATACAAATATACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 NA18959.hp2 NA19068.hp1 others(1): Show HG00558.hp1 NA18959.hp2 NA19068.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0190 a0002c0002t0002g0205 others(1): Show a0002c0002t0002g0029 a0002c0002t0002g0190 a0002c0002t0002g0205 a0002c0002t0002g0222	4	323	0.0124	19	c.-24 others(30): Show c.-2470_-2469insATGGAATACAAATATACGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2383		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33333614	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG02717.hp1 others(2): Show HG02055.hp2 HG02280.hp2 HG02717.hp1 HG02809.hp2 HG02922.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0032 a0003c0003t0004 a0003c0003t0032	a0003c0003t0004g0010 a0003c0003t0004g0124 a0003c0003t0032g0115 a0003c0003t0004g0010 a0003c0003t0004g0124 a0003c0003t0032g0115	5	323	0.0155	19	c.77- others(34): Show c.77-1899_77-1898insTTTTTTTTTTTTTTTTTTT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
IFNAR2_chr21_33224938_33270664	33242728	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02486.hp2 HG02818.hp2 others(6): Show HG00741.hp1 HG02486.hp2 HG02818.hp2 HG02886.hp2 HG03130.hp2 HG03486.hp2 HG03579.hp1 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0173 a0001c0001t0005g0176 others(5): Show a0001c0001t0005g0028 a0001c0001t0005g0173 a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0180 a0001c0001t0005g0323	9	424	0.0212	19	c.55+ others(32): Show c.55+753_55+771dupAAAAAAAAAAAAAAAAAAA	IFNAR2	ENSG00000159110.22	transcript	ENST00000342136.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
IFNGR1_chr6_137192485_137224385	137194099	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03453.hp1 HG02896.hp1 HG02897.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0002 a0002c0006t0002 a0002c0006t0004 a0001c0001t0002 a0002c0006t0002 a0002c0006t0004	a0001c0001t0002g0106 a0002c0006t0002g0035 a0002c0006t0004g0097 a0001c0001t0002g0106 a0002c0006t0002g0035 a0002c0006t0004g0097	3	390	0.0077	19	c.39 others(30): Show c.3931_*3932insAAAAAAAAAAAAAAAAAAA	IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding		3385		chr6	TogoVar
IFNLR1_chr1_24149168_24192289	24188357	A A	AGTGTGTG others(12): Show AGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01099.hp1 HG01943.hp2 others(4): Show HG00642.hp2 HG01099.hp1 HG01943.hp2 HG01993.hp2 HG02293.hp1 HG02300.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0217 a0001c0001t0001g0261 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0217 a0001c0001t0001g0261 a0001c0001t0001g0273 a0001c0001t0001g0281 a0001c0001t0002g0247	7	396	0.0177	19	c.-11 others(30): Show c.-1110_-1109insCACACACACACACACACAC	IFNLR1	ENSG00000185436.12	transcript	ENST00000327535.6	protein_coding		1069		chr1	TogoVar
IFT140_chr16_1505427_1617072	1530133	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG04204.hp1 HG01243.hp2 HG04204.hp1	a0003 a0003	a0003c0017 a0003c0018 a0003c0017 a0003c0018	a0003c0017t0001 a0003c0018t0001 a0003c0017t0001 a0003c0018t0001	a0003c0017t0001g0058 a0003c0018t0001g0133 a0003c0017t0001g0058 a0003c0018t0001g0133	2	334	0.0060	19	c.240 others(38): Show c.2400-3356_2400-3338dupAAAAAAAAAAAAAAAAAAA	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	19/30			chr16	TogoVar
IFT88_chr13_20562157_20696444	20626043	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0171 a0005c0006t0001g0171	1	308	0.0033	19	c.129 others(36): Show c.1299+211_1299+229dupTTTTTTTTTTTTTTTTTTT	IFT88	ENSG00000032742.18	transcript	ENST00000351808.10	protein_coding	15/25		INFO_REALIGN_3_PRIME	chr13	TogoVar
IGBP1_chrX_70128447_70171324	70154714	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	245	0.0041	19	c.871 others(36): Show c.871+4396_871+4414dupAAAAAAAAAAAAAAAAAAA	IGBP1	ENSG00000089289.16	transcript	ENST00000356413.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
IGDCC3_chr15_65322127_65383002	65356848	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02970.hp2 HG03688.hp2 others(3): Show HG02738.hp1 HG02970.hp2 HG03688.hp2 NA18991.hp1 NA18995.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0014 a0001c0001t0001g0066 a0002c0002t0002g0128 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0066 a0002c0002t0002g0128 a0002c0002t0002g0153 a0002c0002t0002g0177 a0002c0002t0002g0181	6	314	0.0191	19	c.409 others(38): Show c.409+18230_409+18248dupAAAAAAAAAAAAAAAAAAA	IGDCC3	ENSG00000174498.14	transcript	ENST00000327987.9	protein_coding	2/13			chr15	TogoVar
IGF1R_chr15_98643539_98969530	98845535	C C	CCTCCTCC others(12): Show CCTCCTCCTCCCCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0200 a0001c0001t0027g0200	1	210	0.0048	19	c.641 others(38): Show c.641-45783_641-45765dupCTCCCCCTCCTCTCTCCTC	IGF1R	ENSG00000140443.15	transcript	ENST00000650285.1	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
IGF2BP1_chr17_48992385_49061145	49004286	A A	ACGAGAGG others(12): Show ACGAGAGGGTTCCCCCTCAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01175.hp2 HG00280.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0252 a0001c0001t0003g0218 a0001c0001t0003g0252	2	318	0.0063	19	c.236 others(36): Show c.236+5120_236+5138dupAGAGGGTTCCCCCTCACCG	IGF2BP1	ENSG00000159217.10	transcript	ENST00000290341.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
IGF2BP1_chr17_48992385_49061145	49059984	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01192.hp1 HG01243.hp1 others(16): Show HG00609.hp1 HG01192.hp1 HG01243.hp1 HG01433.hp1 HG01891.hp2 HG02040.hp1 HG02148.hp1 HG02280.hp2 HG02683.hp1 HG03017.hp1 HG03492.hp1 HG03831.hp1 NA18954.hp2 NA18973.hp1 NA18977.hp2 NA18995.hp1 NA19043.hp1 NA19070.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0003c0004t0001	a0001c0001t0001g0006 a0001c0001t0001g0074 a0001c0001t0001g0097 others(16): Show a0001c0001t0001g0006 a0001c0001t0001g0074 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0141 a0001c0001t0001g0165 a0001c0001t0001g0200 a0001c0001t0001g0227 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0318 a0001c0001t0003g0268 a0001c0001t0005g0281 a0001c0001t0008g0190 a0001c0001t0008g0194 a0001c0001t0008g0217 a0001c0001t0012g0073 a0001c0001t0015g0055 a0003c0004t0001g0170	19	318	0.0598	19	c.10 others(32): Show c.10540_*10541insAAAAAAAAAAAAAAAAAAA	IGF2BP1	ENSG00000159217.10	transcript	ENST00000290341.8	protein_coding		3840		chr17	TogoVar
IGF2BP2_chr3_185638130_185830042	185800718	A A	AAAAAAAG others(12): Show AAAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0098 a0001c0001t0005g0098	1	216	0.0046	19	c.239 others(38): Show c.239+22434_239+22435insCTTTCTTTCTTTCTTTTTT	IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	2/15			chr3	TogoVar

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