Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0258 a0003c0003t0004g0258	1	374	0.0027	42	c.202 others(61): Show c.202-17463_202-17462insTATATAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0318 a0002c0002t0002g0318	1	374	0.0027	42	c.202 others(61): Show c.202-17463_202-17462insTAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSPA12A_chr10_116666192_116747566	116712977	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	320	0.0031	42	c.41- others(57): Show c.41-5693_41-5692insATATATATATATATATATATATATATATAT ATATATATATAT	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
HSPA1A_chr6_31810543_31822942	31822624	A A	ACCACAAA others(35): Show ACCACAAAATTAAAAGCAAACAAAACCCAGTTAGGTTGATGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	419	0.0024	42	c.49 others(53): Show c.4942_*4943insCCACAAAATTAAAAGCAAACAAAACCCAGTTAGG TTGATGAG	HSPA1A	ENSG00000204389.10	transcript	ENST00000375651.7	protein_coding		4683		chr6	TogoVar
HSPA4_chr5_133047013_133111449	133085489	T T	TAAAAAAA others(35): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18995.hp1 NA18989.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0052 a0001c0001t0014 a0001c0001t0052	a0001c0001t0014g0119 a0001c0001t0052g0112 a0001c0001t0014g0119 a0001c0001t0052g0112	2	364	0.0055	42	c.909 others(59): Show c.909-1280_909-1279insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
HSPH1_chr13_31129973_31166904	31166219	C C	CCAACCCC others(35): Show CCAACCCCCCCCCCCCCCCCCCCCCAACAATTACCCCAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	396	0.0025	42	c.-46 others(53): Show c.-4638_-4637insTTTTTTGGGGTAATTGTTGGGGGGGGGGGGGGGG GGGGGTTG	HSPH1	ENSG00000120694.20	transcript	ENST00000320027.10	protein_coding		4316		chr13	TogoVar
HTR2C_chrX_114579086_114915061	114689208	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19085.hp1 HG02630.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0103 a0001c0001t0002g0004 a0001c0001t0001g0103 a0001c0001t0002g0004	2	176	0.0114	42	c.-79 others(61): Show c.-79-37627_-79-37626insATATATATATATATATATATATATAT ATATATATATATATAT	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR7_chr10_90735823_90863039	90858055	C C	CCCGCCGC others(35): Show CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0204 a0001c0001t0006g0204	1	404	0.0025	42	c.-38 others(51): Show c.-385_-384insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG CGGCGG	HTR7	ENSG00000148680.16	transcript	ENST00000336152.8	protein_coding		17		chr10	TogoVar
HTT_chr4_3069681_3248957	3094612	C C	CTGGCCGG others(35): Show CTGGCCGGGCGGGGGCTGCCCCCCACCTCCCGGACGGGGCGGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02895.hp2 HG02965.hp1 others(5): Show HG02280.hp1 HG02895.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03453.hp1 NA19030.hp1 NA19240.hp1	a0004 a0027 a0037 others(2): Show a0004 a0027 a0037 a0041 a0047	a0004c0005 a0027c0027 a0037c0122 others(2): Show a0004c0005 a0027c0027 a0037c0122 a0041c0049 a0047c0054	a0004c0005t0001 a0027c0027t0001 a0037c0122t0001 others(2): Show a0004c0005t0001 a0027c0027t0001 a0037c0122t0001 a0041c0049t0001 a0047c0054t0001	a0004c0005t0001g0055 a0004c0005t0001g0056 a0004c0005t0001g0057 others(5): Show a0004c0005t0001g0055 a0004c0005t0001g0056 a0004c0005t0001g0057 a0027c0027t0001g0035 a0027c0027t0001g0058 a0037c0122t0001g0062 a0041c0049t0001g0010 a0047c0054t0001g0287	8	294	0.0272	42	c.348 others(59): Show c.348-4620_348-4579dupGTGGCCGGGCGGGGGCTGCCCCCCACCT CCCGGACGGGGCGG	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	2/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
HUS1B_chr6_650939_662100	658667	T T	TTTATATA others(35): Show TTTATATATATATATATATTTTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	42	c.-17 others(53): Show c.-1724_-1723insTATATATATATATATATATATAAAATATATATAT ATATATAA	HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding		1568		chr6	TogoVar
IBTK_chr6_82164987_82252744	82173674	A A	AATAAATA others(35): Show AATAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01243.hp1 HG01975.hp1 others(6): Show HG00673.hp2 HG01243.hp1 HG01975.hp1 NA18955.hp2 NA18961.hp2 NA18977.hp2 NA18980.hp1 NA18987.hp2 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0062 a0002c0002t0002g0070 a0002c0002t0002g0076 others(6): Show a0002c0002t0002g0062 a0002c0002t0002g0070 a0002c0002t0002g0076 a0002c0002t0002g0079 a0002c0002t0002g0091 a0002c0002t0002g0095 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0219	9	296	0.0304	42	c.372 others(59): Show c.3726-237_3726-236insATATATATATATATATATATATATATAT ATATATATATTTAT	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	26/28			chr6	TogoVar
IBTK_chr6_82164987_82252744	82173674	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG04184.hp2 NA20129.hp2 HG02257.hp2 HG04184.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0014 a0002c0002t0002 a0002c0002t0014	a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0014g0283 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0014g0283	3	296	0.0101	42	c.372 others(59): Show c.3726-237_3726-236insATATATATATATATATATATATATATAT ATATATATATATAT	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	26/28			chr6	TogoVar
IBTK_chr6_82164987_82252744	82173684	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0074 a0002c0002t0002g0074	1	296	0.0034	42	c.372 others(59): Show c.3726-247_3726-246insGTGTATATATATATATATATATATATAT ATATATATATATAT	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	26/28			chr6	TogoVar
ICA1L_chr2_202768176_202876766	202847695	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02145.hp1 HG02895.hp1 others(4): Show HG01099.hp1 HG02145.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03540.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0022 others(1): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0022 a0001c0001t0044	a0001c0001t0006g0273 a0001c0001t0006g0281 a0001c0001t0006g0282 others(4): Show a0001c0001t0006g0273 a0001c0001t0006g0281 a0001c0001t0006g0282 a0001c0001t0008g0006 a0001c0001t0008g0009 a0001c0001t0022g0293 a0001c0001t0044g0292	7	330	0.0212	42	c.-7- others(59): Show c.-7-18680_-7-18679insTATATATATATATATATATATATATATA TATATATATATATA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICA1L_chr2_202768176_202876766	202847703	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02809.hp1 HG00099.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0097 a0001c0001t0013g0071 a0001c0001t0004g0097 a0001c0001t0013g0071	2	330	0.0061	42	c.-7- others(59): Show c.-7-18688_-7-18687insCATATATATATATATATATATATATATA TATATATATATATA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICA1_chr7_8108184_8267167	8152641	C C	CCACAACC others(35): Show CCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03130.hp2 HG02145.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0005 a0001c0006t0008 a0001c0001t0005 a0001c0006t0008	a0001c0001t0005g0090 a0001c0006t0008g0092 a0001c0001t0005g0090 a0001c0006t0008g0092	2	274	0.0073	42	c.804 others(59): Show c.804+4474_804+4475insATAGTGGTGGGGGTAGTGGTGATGAAGG AGATGGTGGTTGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICA1_chr7_8108184_8267167	8152863	C C	CCACCACC others(35): Show CCACCACCACCATCTCCTTCATCACCACTACCCCCACCACTAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	274	0.0037	42	c.804 others(59): Show c.804+4252_804+4253insATAGTGGTGGGGGTAGTGGTGATGAAGG AGATGGTGGTGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IDO2_chr8_39929651_40021392	39995197	T T	TCTTCTCC others(35): Show TCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0218 a0001c0001t0006g0218	1	360	0.0028	42	c.667 others(59): Show c.667+5377_667+5418dupCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995251	C C	CCTTCTCC others(35): Show CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0014 a0002c0011t0014	a0002c0011t0014g0261 a0002c0011t0014g0261	1	360	0.0028	42	c.667 others(59): Show c.667+5418_667+5419insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995251	C C	CCTTCTCC others(35): Show CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03710.hp1 HG02683.hp2 HG03710.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0005c0005t0003 a0002c0002t0001 a0005c0005t0003	a0002c0002t0001g0311 a0005c0005t0003g0310 a0002c0002t0001g0311 a0005c0005t0003g0310	2	360	0.0056	42	c.667 others(59): Show c.667+5418_667+5419insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCTTCTTCT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995251	C C	CCTTCTCC others(35): Show CCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0133 a0002c0002t0004g0133	1	360	0.0028	42	c.667 others(59): Show c.667+5418_667+5419insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCTTCTTCT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995251	C C	CCTTCTCC others(35): Show CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18981.hp2 NA19054.hp1 HG03471.hp1 NA18981.hp2 NA19054.hp1	a0002 a0005 a0009 a0002 a0005 a0009	a0002c0002 a0005c0005 a0009c0009 a0002c0002 a0005c0005 a0009c0009	a0002c0002t0006 a0005c0005t0002 a0009c0009t0009 a0002c0002t0006 a0005c0005t0002 a0009c0009t0009	a0002c0002t0006g0256 a0005c0005t0002g0046 a0009c0009t0009g0268 a0002c0002t0006g0256 a0005c0005t0002g0046 a0009c0009t0009g0268	3	360	0.0083	42	c.667 others(59): Show c.667+5418_667+5419insCCTTCTCCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995251	C C	CCTTCTCC others(35): Show CCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02922.hp2 HG03579.hp1 HG00621.hp2 HG02922.hp2 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0017 a0002c0002t0001 a0002c0002t0017	a0002c0002t0001g0114 a0002c0002t0001g0347 a0002c0002t0017g0198 a0002c0002t0001g0114 a0002c0002t0001g0347 a0002c0002t0017g0198	3	360	0.0083	42	c.667 others(59): Show c.667+5418_667+5419insCCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995268	T T	TTCTTCTT others(35): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0141 a0001c0001t0004g0141	1	360	0.0028	42	c.667 others(59): Show c.667+5452_667+5453insCTTCTTCTTCTTCTTCTTCCTCTTCTTC TTCTTCTTCTTCTT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995274	T T	TTCTTCTT others(35): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0314 a0002c0002t0001g0314	1	360	0.0028	42	c.667 others(59): Show c.667+5452_667+5453insCTTCTTCTTCTTCTTCTTCTTCTTCCTC TTCTTCTTCTTCTT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IFI6_chr1_27661064_27677192	27670410	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGTTTTA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	356	0.0028	42	c.-32 others(59): Show c.-32-1065_-32-1064insTAAAACACAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	IFI6	ENSG00000126709.16	transcript	ENST00000361157.11	protein_coding	1/4			chr1	TogoVar
IFIT3_chr10_89322997_89345968	89327127	A A	AAATTCAA others(35): Show AAATTCAATAGACAATCATTAGAAAGGAATGTCTGGGTCGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0101 a0001c0002t0004g0101	1	402	0.0025	42	c.-94 others(51): Show c.-947_-946insAATTCAATAGACAATCATTAGAAAGGAATGTCTGGG TCGTGG	IFIT3	ENSG00000119917.15	transcript	ENST00000371818.9	protein_coding		869		chr10	TogoVar
IFITM10_chr11_1727406_1755595	1754533	A A	AGGGATGG others(35): Show AGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGGATGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	406	0.0025	42	c.-40 others(53): Show c.-4092_-4091insCTCCATCCCTCCATCCCTCCATCCCCTCCATCCC TCCATCCC	IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding		3939		chr11	TogoVar
IFITM10_chr11_1727406_1755595	1754552	G G	GATGGAGG others(35): Show GATGGAGGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19012.hp1 NA19083.hp1 others(1): Show NA19011.hp1 NA19012.hp1 NA19083.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0042 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0042 a0001c0001t0001g0113	4	406	0.0099	42	c.-41 others(53): Show c.-4111_-4110insTCCTCCATCCCTCCATCCCCTCCATCCCTCCATC CCCTCCAT	IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding		3958		chr11	TogoVar
IFNL2_chr19_39263396_39275188	39267335	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	422	0.0024	42	c.-12 others(53): Show c.-1234_-1233insTCTCTCTCTCTCTATATATATATATATATATATA TATATATA	IFNL2	ENSG00000183709.8	transcript	ENST00000331982.6	protein_coding		1060		chr19	TogoVar
IFT80_chr3_160251986_160404225	160312757	T T	TATAATAA others(35): Show TATAATAAATGTATATTATATATAAATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0093 a0001c0001t0005g0093	1	212	0.0047	42	c.958 others(59): Show c.958-4977_958-4976insTATATATATATTATATATTTATATATAA TATACATTTATTAT	IFT80	ENSG00000068885.15	transcript	ENST00000326448.12	protein_coding	9/19			chr3	TogoVar
IFT80_chr3_160251986_160404225	160312925	A A	AAATATAT others(35): Show AAATATATAATATATAATAAATATATATTATATATAAATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	212	0.0047	42	c.958 others(59): Show c.958-5186_958-5145dupATATATTTATATATAATATATATTTATT ATATATTATATATT	IFT80	ENSG00000068885.15	transcript	ENST00000326448.12	protein_coding	9/19			chr3	TogoVar
IFT80_chr3_160251986_160404225	160381239	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	212	0.0047	42	c.259 others(57): Show c.259+263_259+264insATATATATATATATATATATATATATATAT ATATATATATAT	IFT80	ENSG00000068885.15	transcript	ENST00000326448.12	protein_coding	3/19			chr3	TogoVar
IFTAP_chr11_36589502_36664272	36661255	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG02080.hp2 HG00558.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0074 a0001c0001t0001g0003 a0001c0001t0001g0074	2	358	0.0056	42	c.20 others(53): Show c.2069_*2070insATATATATATATATATATATATATATATATATAT ATATATAT	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1984		chr11	TogoVar
IFTAP_chr11_36589502_36664272	36661259	C C	CATACATA others(35): Show CATACATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01978.hp1 HG02615.hp2 others(1): Show HG01123.hp2 HG01978.hp1 HG02615.hp2 HG02735.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0002 a0001c0001t0001 a0002c0004t0002	a0001c0001t0001g0002 a0001c0001t0001g0129 a0001c0001t0001g0262 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0129 a0001c0001t0001g0262 a0002c0004t0002g0236	4	358	0.0112	42	c.20 others(53): Show c.2073_*2074insATACATATATATATATATATATATATATATATAT ATATATAT	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1988		chr11	TogoVar
IFTAP_chr11_36589502_36664272	36661259	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG00741.hp1 others(29): Show HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01167.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG02083.hp2 HG02145.hp1 HG02280.hp2 HG03453.hp2 HG03516.hp1 HG03669.hp1 HG03834.hp2 HG06807.hp1 NA18944.hp2 NA18961.hp2 NA18965.hp1 NA18970.hp1 NA18981.hp1 NA18990.hp2 NA19011.hp1 NA19030.hp2 NA19084.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0017 others(24): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0058 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0157 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0213 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0233 a0001c0002t0003g0013	32	358	0.0894	42	c.20 others(53): Show c.2073_*2074insATATATATATATATATATATATATATATATATAT ATATATAT	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1988		chr11	TogoVar
IGF1_chr12_102390874_102485563	102428236	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG00639.hp1 others(13): Show HG00558.hp1 HG00597.hp2 HG00639.hp1 HG01071.hp1 HG01261.hp1 HG01261.hp2 HG01993.hp1 HG02040.hp1 HG02074.hp2 HG02647.hp1 HG02717.hp1 HG03195.hp2 NA18964.hp1 NA19011.hp2 NA19060.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0027 a0001c0001t0030 a0001c0001t0045 a0001c0001t0066 a0001c0001t0077 a0001c0001t0091	a0001c0001t0001g0067 a0001c0001t0001g0130 a0001c0001t0002g0041 others(12): Show a0001c0001t0001g0067 a0001c0001t0001g0130 a0001c0001t0002g0041 a0001c0001t0002g0053 a0001c0001t0002g0101 a0001c0001t0002g0144 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0015g0090 a0001c0001t0027g0170 a0001c0001t0030g0001 a0001c0001t0045g0161 a0001c0001t0066g0035 a0001c0001t0077g0151 a0001c0001t0091g0124	16	360	0.0444	42	c.221 others(59): Show c.221-8547_221-8546insTATATATATATATATATATATATATATA TATATATATATATA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102428236	G G	GTATGTAT others(35): Show GTATGTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0254 a0001c0001t0062g0254	1	360	0.0028	42	c.221 others(59): Show c.221-8547_221-8546insTATATATATATATATATATATATATATA TATATATATACATA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTGCTGC others(35): Show GCTGCTGCTGCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0076 a0001c0001t0038 a0001c0001t0076	a0001c0001t0038g0137 a0001c0001t0038g0138 a0001c0001t0076g0115 a0001c0001t0038g0137 a0001c0001t0038g0138 a0001c0001t0076g0115	3	360	0.0083	42	c.221 others(61): Show c.221-22217_221-22216insAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAGGCAGCAGCAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTGCTGC others(35): Show GCTGCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03669.hp1 HG02723.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0068 a0001c0001t0001 a0001c0001t0068	a0001c0001t0001g0134 a0001c0001t0068g0038 a0001c0001t0001g0134 a0001c0001t0068g0038	2	360	0.0056	42	c.221 others(61): Show c.221-22217_221-22216insAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGCAGCAGCAGCAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTGCTGC others(35): Show GCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG02109.hp1 others(4): Show HG01081.hp1 HG01081.hp2 HG02109.hp1 HG02896.hp1 HG02896.hp2 HG03225.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0019	a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0164 others(4): Show a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0164 a0001c0001t0002g0044 a0001c0001t0002g0051 a0001c0001t0012g0054 a0001c0001t0019g0015	7	360	0.0194	42	c.221 others(61): Show c.221-22217_221-22216insAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGCAGCAGCAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTTCTTC others(35): Show GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18980.hp1 HG00423.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0084 a0001c0001t0004 a0001c0001t0084	a0001c0001t0004g0330 a0001c0001t0084g0300 a0001c0001t0004g0330 a0001c0001t0084g0300	2	360	0.0056	42	c.221 others(61): Show c.221-22217_221-22216insAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF2BP2_chr3_185638130_185830042	185800718	A A	AAAAAAGA others(35): Show AAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03195.hp2 HG03471.hp1 others(1): Show HG00140.hp2 HG03195.hp2 HG03471.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0001 a0001c0001t0009 a0001c0001t0011	a0001c0001t0001g0071 a0001c0001t0001g0208 a0001c0001t0009g0069 others(1): Show a0001c0001t0001g0071 a0001c0001t0001g0208 a0001c0001t0009g0069 a0001c0001t0011g0073	4	216	0.0185	42	c.239 others(61): Show c.239+22434_239+22435insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTTT	IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	2/15			chr3	TogoVar
IGF2R_chr6_159964082_160116504	160012745	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0064 a0001c0004t0002g0064	1	310	0.0032	42	c.513 others(59): Show c.513+1979_513+1980insATATATATATATATATATATATATATAT ATATATATATATAT	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGSF21_chr1_18102798_18383483	18177344	G G	GAGATGGC others(35): Show GAGATGGCTGAGAAGGACTGTGGTCGTGTGTGGGGATGGGGTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01175.hp1 HG02257.hp2 others(7): Show HG00408.hp2 HG01175.hp1 HG02257.hp2 HG02647.hp2 HG02965.hp2 NA18612.hp1 NA18612.hp2 NA18950.hp1 NA18982.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0002g0068 others(7): Show a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0002g0068 a0001c0001t0002g0078 a0001c0001t0002g0090 a0001c0001t0002g0126 a0001c0001t0002g0131 a0001c0001t0003g0214 a0001c0001t0004g0211 a0001c0001t0007g0116	10	248	0.0403	42	c.71- others(59): Show c.71-50551_71-50510dupATGGCTGAGAAGGACTGTGGTCGTGTGT GGGGATGGGGTCAG	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18208376	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02615.hp2 HG02886.hp1 HG01261.hp2 HG02615.hp2 HG02886.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0002 a0001c0001 a0001c0010 a0002c0002	a0001c0001t0001 a0001c0010t0005 a0002c0002t0001 a0001c0001t0001 a0001c0010t0005 a0002c0002t0001	a0001c0001t0001g0033 a0001c0010t0005g0247 a0002c0002t0001g0121 a0001c0001t0001g0033 a0001c0010t0005g0247 a0002c0002t0001g0121	3	248	0.0121	42	c.71- others(59): Show c.71-19502_71-19501insATATATATATATATATATATATATATAT ATATATATATATAT	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18225085	T T	TCTCTCTC others(35): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	248	0.0040	42	c.71- others(57): Show c.71-2812_71-2811insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC ACACACACACAC	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL12RB1_chr19_18053995_18091934	18088404	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0005 a0006c0006t0005	a0006c0006t0005g0044 a0006c0006t0005g0044	1	412	0.0024	42	c.-15 others(53): Show c.-1582_-1581insTTATATATATATATATATATATATATATATATAT ATATATAT	IL12RB1	ENSG00000096996.16	transcript	ENST00000593993.7	protein_coding		1471		chr19	TogoVar
IL13RA1_chrX_118722606_118799533	118784138	T T	TATATATA others(35): Show TATATATACGTATATATGTATATATACGTATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02896.hp1 others(2): Show HG02257.hp1 HG02280.hp2 HG02896.hp1 HG02897.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 others(2): Show a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270	5	280	0.0179	42	c.119 others(61): Show c.1192-7617_1192-7616insCGTATATATGTATATATACGTATATA TATACACACATATATA	IL13RA1	ENSG00000131724.11	transcript	ENST00000371666.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAT others(35): Show ATATATATACATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0286 a0001c0001t0006g0286	1	342	0.0029	42	c.313 others(61): Show c.313-16608_313-16607insATATATACATATATATATATATATAT ATATATATTTTTTTTT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar

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