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
IMPG1_chr6_75916114_76077662	75982586	GATATATA others(29): Show GATATATATATGTGTGTGTATATATATATGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02922.hp2 HG02559.hp1 HG02922.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0013 a0003c0015t0001g0014 a0003c0015t0001g0013 a0003c0015t0001g0014	2	302	0.0066	-36	c.129 others(57): Show c.1291+20296_1291+20331delACACACACATATATATATACACAC ACATATATATAT	IMPG1	ENSG00000112706.12	transcript	ENST00000369950.8	protein_coding	12/16			chr6	TogoVar
IMPG2_chr3_101217546_101325575	101226225	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03490.hp2 HG03579.hp2 HG04228.hp1 others(1): Show HG03490.hp2 HG03579.hp2 HG04228.hp1 NA19065.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0023 a0003c0004t0045 a0001c0001t0023 a0003c0004t0045	a0001c0001t0023g0152 a0001c0001t0023g0163 a0001c0001t0023g0169 others(1): Show a0001c0001t0023g0152 a0001c0001t0023g0163 a0001c0001t0023g0169 a0003c0004t0045g0344	4	360	0.0111	-36	c.70 others(45): Show c.708_*743delTATATATATATATATATATATATATATATATATATA	IMPG2	ENSG00000081148.12	transcript	ENST00000193391.8	protein_coding	19/19	708		chr3	TogoVar
INF2_chr14_104684618_104727535	104719685	ACAGGCCC others(29): Show ACAGGCCCCGTGTGAACACTCACTGTTGAGGGGCCCC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp2 HG01884.hp2 HG01891.hp1 others(23): Show HG00673.hp2 HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02886.hp2 HG02976.hp2 HG03041.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03704.hp2 HG06807.hp2 NA18522.hp2 NA18946.hp2 NA18967.hp2 NA18970.hp1 NA18985.hp1 NA19000.hp2 NA19065.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0001c0017 others(1): Show a0001c0001 a0001c0009 a0001c0017 a0002c0003	a0001c0001t0005 a0001c0001t0026 a0001c0001t0072 others(7): Show a0001c0001t0005 a0001c0001t0026 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0096 a0001c0009t0010 a0001c0017t0005 a0002c0003t0010 a0002c0003t0071	a0001c0001t0005g0011 a0001c0001t0005g0173 a0001c0001t0005g0222 others(14): Show a0001c0001t0005g0011 a0001c0001t0005g0173 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0224 a0001c0001t0005g0225 a0001c0001t0026g0018 a0001c0001t0072g0227 a0001c0001t0073g0226 a0001c0001t0074g0131 a0001c0001t0096g0141 a0001c0009t0010g0124 a0001c0017t0005g0049 a0001c0017t0005g0181 a0002c0003t0010g0007 a0002c0003t0010g0012 a0002c0003t0071g0012	26	380	0.0684	-36	c.92 others(45): Show c.925_*960delCCCCCAGGCCCCGTGTGAACACTCACTGTTGAGGGG	INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	23/23	4379	INFO_REALIGN_3_PRIME	chr14	TogoVar
INO80D_chr2_205988721_206091174	206071257	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG00738.hp1 others(33): Show HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02135.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp2 HG04228.hp1 NA18943.hp2 NA19057.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0009 a0001c0001 a0001c0004 a0004c0009	a0001c0001t0004 a0001c0001t0015 a0001c0001t0018 others(7): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0064 a0001c0004t0007 a0001c0004t0011 a0001c0004t0037 a0004c0009t0007	a0001c0001t0004g0001 a0001c0001t0004g0011 a0001c0001t0004g0012 others(32): Show a0001c0001t0004g0001 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0015g0006 a0001c0001t0015g0007 a0001c0001t0015g0010 a0001c0001t0018g0005 a0001c0001t0018g0008 a0001c0001t0024g0013 a0001c0001t0025g0029 a0001c0001t0064g0331 a0001c0004t0007g0202 a0001c0004t0007g0203 a0001c0004t0007g0216 a0001c0004t0007g0218 a0001c0004t0007g0220 a0001c0004t0007g0221 a0001c0004t0011g0214 a0001c0004t0011g0219 a0001c0004t0037g0204 a0004c0009t0007g0217	36	334	0.1078	-36	c.-12 others(55): Show c.-123-8049_-123-8014delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	INO80D	ENSG00000114933.16	transcript	ENST00000403263.6	protein_coding	1/10			chr2	TogoVar
INPP4B_chr4_142018160_142851301	142061885	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0080 a0001c0002t0012g0080	1	90	0.0111	-36	c.264 others(57): Show c.2642+20110_2642+20145delATATATATATATATATATATATAT ATATATATATAT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	25/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142245781	TATGTGTG others(29): Show TATGTGTGTATGTATACATATATATGTGTATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0070 a0001c0005t0001g0070	1	90	0.0111	-36	c.689 others(53): Show c.689-7806_689-7771delGTATACATACACATATATATGTATACAT ACACACAT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	11/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142245893	CATATATG others(29): Show CATATATGTGTATGTATACATATATATGTGTATGTAT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0029 a0001c0005t0007g0029	1	90	0.0111	-36	c.689 others(53): Show c.689-7918_689-7883delATACATACACATATATATGTATACATAC ACATATAT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	11/25			chr4	TogoVar
INPP5A_chr10_132532787_132788480	132634266	AGGTGTGC others(29): Show AGGTGTGCCCCGGAGAGGCGTATCATCTCCCTTGGTG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01952.hp1 HG02015.hp2 others(12): Show HG01109.hp2 HG01952.hp1 HG02015.hp2 HG02109.hp1 HG02717.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03540.hp2 HG03834.hp2 HG04199.hp2 NA18906.hp2 NA18945.hp2 NA18971.hp2 NA18973.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0005t0001 a0002c0002t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(12): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0002g0071 a0001c0001t0010g0047 a0001c0001t0010g0048 a0001c0001t0013g0024 a0001c0005t0001g0185 a0001c0005t0001g0186 a0002c0002t0001g0052	15	204	0.0735	-36	c.118 others(55): Show c.118-11519_118-11484delGGAGAGGCGTATCATCTCCCTTGGTG GGTGTGCCCC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5D_chr2_233055342_233212903	233055917	GATAGATG others(29): Show GATAGATGGATGGATGGTTAGCTAGATAGCTAGATAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(134): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18950.hp2 NA18951.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp2 NA19066.hp2 NA19079.hp2 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0003 a0001c0004 others(14): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0015 a0001c0017 a0001c0019 a0001c0021 a0002c0002 a0002c0007 a0002c0014 a0003c0011 a0003c0020 a0004c0012 a0008c0027	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(22): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0003t0001 a0001c0003t0010 a0001c0004t0001 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0009t0001 a0001c0015t0001 a0001c0017t0001 a0001c0019t0001 a0001c0021t0001 a0002c0002t0004 a0002c0007t0004 a0002c0014t0004 a0003c0011t0001 a0003c0020t0001 a0004c0012t0001 a0008c0027t0012	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(134): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0004g0048 a0001c0001t0004g0057 a0001c0001t0004g0060 a0001c0001t0004g0104 a0001c0001t0005g0024 a0001c0001t0010g0013 a0001c0001t0011g0062 a0001c0001t0011g0098 a0001c0001t0011g0141 a0001c0001t0012g0027 a0001c0001t0014g0140 a0001c0003t0001g0006 a0001c0003t0001g0010 a0001c0003t0001g0011 a0001c0003t0001g0032 a0001c0003t0001g0050 a0001c0003t0001g0085 a0001c0003t0001g0091 a0001c0003t0001g0097 a0001c0003t0001g0099 a0001c0003t0001g0108 a0001c0003t0010g0106 a0001c0003t0010g0137 a0001c0004t0001g0007 a0001c0004t0001g0008 a0001c0004t0001g0015 a0001c0004t0001g0017 a0001c0004t0001g0018 a0001c0004t0001g0096 a0001c0004t0001g0131 a0001c0004t0001g0139 a0001c0005t0001g0033 a0001c0005t0001g0059 a0001c0005t0001g0089 a0001c0005t0001g0143 a0001c0005t0002g0025 a0001c0006t0001g0019 a0001c0006t0001g0109 a0001c0006t0001g0110 a0001c0006t0001g0126 a0001c0006t0001g0130 a0001c0006t0001g0142 a0001c0006t0001g0145 a0001c0009t0001g0128 a0001c0015t0001g0103 a0001c0017t0001g0117 a0001c0019t0001g0020 a0001c0021t0001g0129 a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 a0002c0002t0004g0026 a0002c0002t0004g0031 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0004g0036 a0002c0002t0004g0038 a0002c0002t0004g0042 a0002c0002t0004g0044 a0002c0002t0004g0045 a0002c0002t0004g0046 a0002c0002t0004g0055 a0002c0002t0004g0061 a0002c0002t0004g0067 a0002c0002t0004g0072 a0002c0002t0004g0076 a0002c0002t0004g0078 a0002c0002t0004g0080 a0002c0002t0004g0082 a0002c0002t0004g0084 a0002c0002t0004g0113 a0002c0002t0004g0118 a0002c0002t0004g0132 a0002c0002t0004g0134 a0002c0002t0004g0135 a0002c0002t0004g0144 a0002c0002t0004g0146 a0002c0007t0004g0016 a0002c0007t0004g0147 a0002c0014t0004g0030 a0003c0011t0001g0083 a0003c0011t0001g0093 a0003c0020t0001g0074 a0004c0012t0001g0064 a0008c0027t0012g0127	137	310	0.4419	-36	c.-45 others(47): Show c.-4561_-4526delATAGATGGATGGATGGTTAGCTAGATAGCTAGAT AA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding		4424		chr2	TogoVar
INPP5D_chr2_233055342_233212903	233186684	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02970.hp2 HG03453.hp1 others(5): Show HG02257.hp1 HG02970.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 NA18522.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0002c0008	a0001c0001t0007 a0001c0005t0007 a0002c0002t0003 others(1): Show a0001c0001t0007 a0001c0005t0007 a0002c0002t0003 a0002c0008t0003	a0001c0001t0007g0001 a0001c0001t0007g0002 a0001c0005t0007g0199 others(5): Show a0001c0001t0007g0001 a0001c0001t0007g0002 a0001c0005t0007g0199 a0002c0002t0003g0187 a0002c0002t0003g0202 a0002c0008t0003g0148 a0002c0008t0003g0188 a0002c0008t0003g0192	8	310	0.0258	-36	c.235 others(53): Show c.2358+780_2358+815delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	21/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INSC_chr11_15109923_15252208	15229963	TATATATA others(29): Show TATATATATATATATATTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	270	0.0037	-36	c.117 others(55): Show c.1170+4136_1170+4171delATATATATATATATATTATATATATA TATATATATA	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	9/12			chr11	TogoVar
INSC_chr11_15109923_15252208	15229965	TATATATA others(29): Show TATATATATATATATTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0136 a0004c0006t0001g0136	1	270	0.0037	-36	c.117 others(55): Show c.1170+4138_1170+4173delATATATATATATATTATATATATATA TATATATATA	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	9/12			chr11	TogoVar
INSR_chr19_7107265_7299414	7124564	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0151 a0001c0027t0151	a0001c0027t0151g0224 a0001c0027t0151g0224	1	300	0.0033	-36	c.325 others(53): Show c.3258+683_3258+718delATATATATATATTTTTTTTTTTTTTTTT TTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7124566	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0230 a0001c0003t0001g0230	1	300	0.0033	-36	c.325 others(53): Show c.3258+681_3258+716delATATATATATATATTTTTTTTTTTTTTT TTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7124574	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0099 a0001c0010t0099	a0001c0010t0099g0284 a0001c0010t0099g0284	1	300	0.0033	-36	c.325 others(53): Show c.3258+673_3258+708delATATATATATATATATATATATTTTTTT TTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7124576	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0002 a0001c0025t0002	a0001c0025t0002g0024 a0001c0025t0002g0024	1	300	0.0033	-36	c.325 others(53): Show c.3258+671_3258+706delATATATATATATATATATATATATTTTT TTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21			chr19	TogoVar
INTS8_chr8_94818287_94886746	94823808	GTCCTTTT others(29): Show GTCCTTTTTACGATTTACCTTTTTACTGTTGGGGTTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	310	0.0032	-36	c.130 others(51): Show c.130+249_130+284delCCTTTTTACGATTTACCTTTTTACTGTTGG GGTTTT	INTS8	ENSG00000164941.14	transcript	ENST00000523731.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr8	TogoVar
INTU_chr4_127627957_127731737	127640542	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0160 a0001c0002t0001g0160	1	358	0.0028	-36	c.147 others(53): Show c.147-2965_147-2930delTATATATATATATATATATATATATATA TATATATA	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
INTU_chr4_127627957_127731737	127640556	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0013	a0001c0006t0013g0144 a0001c0006t0013g0144	1	358	0.0028	-36	c.147 others(53): Show c.147-2959_147-2924delTATATATATATATATATATATATATATA TACATATA	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
IPCEF1_chr6_154149496_154361803	154357846	ATAAAATA others(29): Show ATAAAATATATATATAAAATATATATATATATAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02145.hp2 HG02451.hp2 others(11): Show HG01496.hp1 HG02145.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02818.hp2 HG03041.hp1 HG03130.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0002c0003t0008	a0001c0001t0001g0241 a0001c0001t0001g0253 a0001c0001t0004g0239 others(11): Show a0001c0001t0001g0241 a0001c0001t0001g0253 a0001c0001t0004g0239 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0256 a0001c0001t0005g0240 a0001c0001t0005g0244 a0001c0001t0005g0247 a0001c0001t0005g0250 a0001c0001t0005g0254 a0001c0001t0007g0249 a0001c0001t0015g0245 a0002c0003t0008g0243	14	264	0.0530	-36	c.-12 others(47): Show c.-1272_-1237delATTTTATATATATATATATTTTATATATATATTT TA	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		1044		chr6	TogoVar
IQANK1_chr8_143729139_143795645	143748693	CATATATA others(29): Show CATATATAAATATATAAATATATATCATATATATCAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18522.hp2 HG01891.hp1 NA18522.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0019 a0008c0008t0001g0020 a0008c0008t0001g0019 a0008c0008t0001g0020	2	349	0.0057	-36	c.175 others(53): Show c.175+8751_175+8786delTAAATATATAAATATATATCATATATAT CATATATA	IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQCA1_chr2_236319151_236512476	236358023	AATATGAA others(29): Show AATATGAATATATATTTATAATATATAGATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03654.hp2 HG01952.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0144 a0001c0001t0003g0011 a0001c0001t0001g0144 a0001c0001t0003g0011	2	208	0.0096	-36	c.186 others(55): Show c.1869+5721_1869+5756delAATATATATCTATATATTATAAATAT ATATTCATAT	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236459492	CGTATATA others(29): Show CGTATATATGTATACGTATACGTATACATGTATACAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0054 a0002c0008t0001g0055 a0002c0008t0001g0054 a0002c0008t0001g0055	2	208	0.0096	-36	c.926 others(53): Show c.926+5977_926+6012delATGTATACATGTATACGTATACGTATAC ATATATAC	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	6/18			chr2	TogoVar
IQCM_chr4_149346709_149820843	149368877	CGTGTATA others(29): Show CGTGTATATATATGTATATATATACACGTGTATATAT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	252	0.0040	-36	c.139 others(57): Show c.1391-16847_1391-16812delATATATACACGTGTATATATATAC ATATATATACAC	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13			chr4	TogoVar
IQGAP1_chr15_90383242_90507239	90422624	ATGTATAT others(29): Show ATGTATATATATATATGTATATGTATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01934.hp1 HG02451.hp2 others(8): Show HG00597.hp2 HG01934.hp1 HG02451.hp2 HG02559.hp2 HG02896.hp2 HG02897.hp1 HG03834.hp2 NA18947.hp1 NA18953.hp1 NA19086.hp1 NA19089.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0009c0021	a0001c0001t0001 a0001c0001t0024 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0001t0024 a0001c0002t0004 a0001c0005t0010 a0009c0021t0001	a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0236 others(8): Show a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0236 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0319 a0001c0001t0024g0237 a0001c0002t0004g0195 a0001c0005t0010g0355 a0001c0005t0010g0356 a0009c0021t0001g0205	11	360	0.0306	-36	c.156 others(53): Show c.156-3484_156-3449delGTATATATATATATGTATATGTATATAT ATATATGT	IQGAP1	ENSG00000140575.13	transcript	ENST00000268182.10	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr15	TogoVar
IQGAP2_chr5_76398285_76713132	76436489	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG01106.hp2 others(7): Show HG00642.hp1 HG00741.hp1 HG01106.hp2 HG02717.hp2 HG02818.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 NA18522.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0002 a0002c0001 a0002c0055 others(3): Show a0001c0002 a0002c0001 a0002c0055 a0003c0027 a0004c0037 a0006c0008	a0001c0002t0001 a0001c0002t0011 a0002c0001t0001 others(4): Show a0001c0002t0001 a0001c0002t0011 a0002c0001t0001 a0002c0055t0001 a0003c0027t0001 a0004c0037t0001 a0006c0008t0002	a0001c0002t0001g0070 a0001c0002t0011g0067 a0001c0002t0011g0068 others(7): Show a0001c0002t0001g0070 a0001c0002t0011g0067 a0001c0002t0011g0068 a0002c0001t0001g0102 a0002c0001t0001g0105 a0002c0001t0001g0109 a0002c0055t0001g0114 a0003c0027t0001g0101 a0004c0037t0001g0106 a0006c0008t0002g0103	10	222	0.0451	-36	c.47- others(53): Show c.47-25079_47-25044delATATATATATATATATATATATATATAT TTTTTTTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76436491	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0115 a0002c0001t0002g0115	1	222	0.0045	-36	c.47- others(53): Show c.47-25077_47-25042delATATATATATATATATATATATATATTT TTTTTTTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76436493	ATATATAT others(29): Show ATATATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0069 a0001c0002t0014g0069	1	222	0.0045	-36	c.47- others(53): Show c.47-25075_47-25040delATATATATATATATATATATATATTTTT TTTTTTTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IRAK1BP1_chr6_78862551_78908102	78866928	TAATATAT others(29): Show TAATATATTATATATATTAGAATATATTATATATTAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0244 a0001c0002t0030g0244	1	346	0.0029	-36	c.-64 others(45): Show c.-648_-613delAATATATTATATATATTAGAATATATTATATATTAG	IRAK1BP1	ENSG00000146243.14	transcript	ENST00000369940.7	protein_coding		622		chr6	TogoVar
ITGAE_chr17_3709628_3806188	3724096	TCGGCGAC others(29): Show TCGGCGACCCCTCGCAGTCCGACGATCCTGACGATCC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	302	0.0033	-36	c.308 others(53): Show c.3085-388_3085-353delGGATCGTCAGGATCGTCGGACTGCGAGG GGTCGCCG	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	26/30			chr17	TogoVar
ITGAM_chr16_31254975_31337877	31302918	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02165.hp2 HG00558.hp1 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0042 a0001c0002t0002g0087 a0001c0002t0002g0042 a0001c0002t0002g0087	2	244	0.0082	-36	c.170 others(55): Show c.1707+5010_1707+5045delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	14/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31334653	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	244	0.0041	-36	c.29 others(47): Show c.2947_*2982delTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTT CT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1777		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31334669	CTTCTTTC others(29): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01106.hp2 others(2): Show HG00738.hp2 HG00741.hp2 HG01106.hp2 HG01516.hp1 HG03130.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0006 a0002c0003 a0004c0006	a0002c0003t0003 a0004c0006t0003 a0002c0003t0003 a0004c0006t0003	a0002c0003t0003g0112 a0002c0003t0003g0119 a0002c0003t0003g0120 others(2): Show a0002c0003t0003g0112 a0002c0003t0003g0119 a0002c0003t0003g0120 a0004c0006t0003g0014 a0004c0006t0003g0015	5	244	0.0205	-36	c.29 others(47): Show c.2963_*2998delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1793		chr16	TogoVar
ITIH1_chr3_52772599_52797062	52781202	TTTTTTTT others(29): Show TTTTTTTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0087	1	406	0.0025	-36	c.688 others(51): Show c.688-735_688-700delTTTTTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTT	ITIH1	ENSG00000055957.11	transcript	ENST00000273283.7	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITIH2_chr10_7698316_7754520	7737674	ATATTTTC others(29): Show ATATTTTCTATATTATATTCTATATAATATTCTATAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0285 a0001c0002t0001g0285	1	380	0.0026	-36	c.195 others(53): Show c.1958-943_1958-908delTTTCTATATTATATTCTATATAATATTC TATATTAT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH5_chr10_7554270_7671966	7556072	ATATATAT others(29): Show ATATATATGTATATATATATATATATATGTGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0000 a0000	a0000c0082 a0000c0082	a0000c0082t0007 a0000c0082t0007	a0000c0082t0007g0286 a0000c0082t0007g0286	1	342	0.0029	-36	c.69 others(47): Show c.6975_*7010delCACACACACATATATATATATATATATACATATA TA	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding		3197		chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566790	AGAAGAAG others(29): Show AGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	A A	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0009 a0003c0002t0009	a0003c0002t0009g0212 a0003c0002t0009g0212	1	342	0.0029	-36	c.215 others(53): Show c.2150-419_2150-384delCTCTTCCTCTTCCTCTTCCTCTTCCTCT TCTTCTTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566826	GGAAGAGG others(29): Show GGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 NA19058.hp1 HG01070.hp2 HG01071.hp2 NA19058.hp1	a0007 a0017 a0007 a0017	a0007c0024 a0017c0074 a0007c0024 a0017c0074	a0007c0024t0008 a0017c0074t0001 a0007c0024t0008 a0017c0074t0001	a0007c0024t0008g0193 a0007c0024t0008g0194 a0017c0074t0001g0243 a0007c0024t0008g0193 a0007c0024t0008g0194 a0017c0074t0001g0243	3	342	0.0088	-36	c.215 others(53): Show c.2150-455_2150-420delTTCTTCTTCTTCTTCTTCCTCTTCCTCT TCCTCTTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566832	GGAAGAGG others(29): Show GGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01256.hp2 HG03139.hp2 others(2): Show HG01175.hp2 HG01256.hp2 HG03139.hp2 HG06807.hp2 NA19064.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0004 a0004c0022 a0001c0001 a0002c0004 a0004c0022	a0001c0001t0001 a0002c0004t0001 a0004c0022t0002 a0001c0001t0001 a0002c0004t0001 a0004c0022t0002	a0001c0001t0001g0029 a0001c0001t0001g0265 a0002c0004t0001g0091 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0265 a0002c0004t0001g0091 a0002c0004t0001g0192 a0004c0022t0002g0221	5	342	0.0146	-36	c.215 others(53): Show c.2150-461_2150-426delTTCTTCTTCTTCTTCTTCTTCTTCCTCT TCCTCTTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566838	GGAAGAGG others(29): Show GGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG04228.hp2 HG01168.hp1 HG04228.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0004c0008 a0002c0004 a0004c0008	a0002c0004t0001 a0004c0008t0029 a0002c0004t0001 a0004c0008t0029	a0002c0004t0001g0066 a0004c0008t0029g0072 a0002c0004t0001g0066 a0004c0008t0029g0072	2	342	0.0059	-36	c.215 others(53): Show c.2150-467_2150-432delTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCCTCTTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7628667	ATGTGTCC others(29): Show ATGTGTCCATGTTGTAGCGTGTGTCCATGTTGCAGCG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02145.hp2 NA18943.hp1 others(3): Show HG00558.hp1 HG02145.hp2 NA18943.hp1 NA18971.hp1 NA18993.hp1 NA19080.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0009 a0029	a0001c0001 a0003c0002 a0004c0008 others(2): Show a0001c0001 a0003c0002 a0004c0008 a0009c0027 a0029c0069	a0001c0001t0001 a0003c0002t0002 a0003c0002t0009 others(3): Show a0001c0001t0001 a0003c0002t0002 a0003c0002t0009 a0004c0008t0009 a0009c0027t0001 a0029c0069t0001	a0001c0001t0001g0234 a0003c0002t0002g0208 a0003c0002t0009g0198 others(3): Show a0001c0001t0001g0234 a0003c0002t0002g0208 a0003c0002t0009g0198 a0004c0008t0009g0233 a0009c0027t0001g0209 a0029c0069t0001g0210	6	342	0.0175	-36	c.652 others(53): Show c.652+8525_652+8560delCGCTGCAACATGGACACACGCTACAACA TGGACACA	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	5/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7628717	TAGCGTGT others(29): Show TAGCGTGTGTCCATGTTGCAGCGTGTGTCCATGTTGC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0000 a0000	a0000c0011 a0000c0011	a0000c0011t0030 a0000c0011t0030	a0000c0011t0030g0013 a0000c0011t0030g0013	1	342	0.0029	-36	c.652 others(53): Show c.652+8475_652+8510delGCAACATGGACACACGCTGCAACATGGA CACACGCT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	5/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7628735	CAGCGTGT others(29): Show CAGCGTGTGTCCATGTTGCAGCGTGTGTCCATGTTGT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02630.hp2 HG03486.hp1 HG02486.hp2 HG02630.hp2 HG03486.hp1	a0000 a0001 a0020 a0000 a0001 a0020	a0000c0056 a0001c0054 a0020c0052 a0000c0056 a0001c0054 a0020c0052	a0000c0056t0039 a0001c0054t0001 a0020c0052t0062 a0000c0056t0039 a0001c0054t0001 a0020c0052t0062	a0000c0056t0039g0256 a0001c0054t0001g0009 a0020c0052t0062g0014 a0000c0056t0039g0256 a0001c0054t0001g0009 a0020c0052t0062g0014	3	342	0.0088	-36	c.652 others(53): Show c.652+8457_652+8492delACAACATGGACACACGCTGCAACATGGA CACACGCT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	5/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7629284	TCCCTGTT others(29): Show TCCCTGTTGTAGCGTGTGTCCATGTTGTAGCGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02622.hp2 others(17): Show HG02109.hp2 HG02451.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03453.hp2 HG03927.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA19006.hp2 NA20752.hp2	a0000 a0001 a0002 others(7): Show a0000 a0001 a0002 a0003 a0004 a0008 a0012 a0015 a0019 a0031	a0000c0030 a0000c0079 a0000c0082 others(14): Show a0000c0030 a0000c0079 a0000c0082 a0001c0006 a0001c0080 a0002c0003 a0002c0015 a0003c0005 a0003c0081 a0004c0007 a0004c0076 a0004c0078 a0008c0083 a0012c0077 a0015c0048 a0019c0051 a0031c0084	a0000c0030t0015 a0000c0079t0004 a0000c0082t0007 others(14): Show a0000c0030t0015 a0000c0079t0004 a0000c0082t0007 a0001c0006t0001 a0001c0080t0001 a0002c0003t0008 a0002c0015t0001 a0003c0005t0047 a0003c0081t0001 a0004c0007t0058 a0004c0076t0006 a0004c0078t0006 a0008c0083t0003 a0012c0077t0001 a0015c0048t0001 a0019c0051t0001 a0031c0084t0059	a0000c0030t0015g0010 a0000c0030t0015g0338 a0000c0079t0004g0282 others(17): Show a0000c0030t0015g0010 a0000c0030t0015g0338 a0000c0079t0004g0282 a0000c0082t0007g0286 a0001c0006t0001g0057 a0001c0080t0001g0289 a0002c0003t0008g0148 a0002c0015t0001g0283 a0002c0015t0001g0285 a0002c0015t0001g0291 a0003c0005t0047g0315 a0003c0081t0001g0288 a0004c0007t0058g0140 a0004c0076t0006g0287 a0004c0078t0006g0011 a0008c0083t0003g0292 a0012c0077t0001g0290 a0015c0048t0001g0056 a0019c0051t0001g0316 a0031c0084t0059g0284	20	342	0.0585	-36	c.652 others(53): Show c.652+7908_652+7943delGCACACGCTACAACATGGACACACGCTA CAACAGGG	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	5/13			chr10	TogoVar
ITPR1_chr3_4488348_4852506	4807065	AAGAGGGG others(29): Show AAGAGGGGGACTTACAAAGAGAGGGGGGCTTACAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0103 a0001c0103	a0001c0103t0002 a0001c0103t0002	a0001c0103t0002g0120 a0001c0103t0002g0120	1	176	0.0057	-36	c.727 others(53): Show c.7272+807_7272+842delACTTACAAAGAGAGGGGGGCTTACAAAG AGAGGGGG	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	55/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4807123	GGGGGGCT others(29): Show GGGGGGCTTACAAAGAGAGGGGGGACTTACAAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA19043.hp1 NA20129.hp2 HG02895.hp2 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0026 a0001c0034 a0001c0026 a0001c0034	a0001c0026t0009 a0001c0026t0018 a0001c0034t0001 a0001c0026t0009 a0001c0026t0018 a0001c0034t0001	a0001c0026t0009g0175 a0001c0026t0018g0117 a0001c0034t0001g0169 a0001c0026t0009g0175 a0001c0026t0018g0117 a0001c0034t0001g0169	3	176	0.0171	-36	c.727 others(53): Show c.7272+862_7272+897delCTTACAAAGAGAGGGGGGACTTACAAAG AGAGGGGG	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	55/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR2_chr12_26330352_26838194	26589797	ATAAATAA others(29): Show ATAAATAAATAAAAAATAAATAAATAAATAAATAAAC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0015	a0001c0005t0015g0051 a0001c0005t0015g0051	1	142	0.0070	-36	c.438 others(55): Show c.4380+5632_4380+5667delGTTTATTTATTTATTTATTTATTTTT TATTTATTTA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	32/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26782011	TATATATA others(29): Show TATATATATATATATATATATATGTATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0006 a0001c0021t0006	a0001c0021t0006g0033 a0001c0021t0006g0033	1	142	0.0070	-36	c.163 others(53): Show c.163+8110_163+8145delCTCTCTCTCTATACATATATATATATAT ATATATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26782015	TATATATA others(29): Show TATATATATATATATATATGTATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG04199.hp1 NA18747.hp2 others(1): Show HG03195.hp1 HG04199.hp1 NA18747.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 others(1): Show a0001c0001 a0001c0005 a0001c0008 a0001c0018	a0001c0001t0001 a0001c0005t0002 a0001c0008t0043 others(1): Show a0001c0001t0001 a0001c0005t0002 a0001c0008t0043 a0001c0018t0047	a0001c0001t0001g0021 a0001c0005t0002g0039 a0001c0008t0043g0111 others(1): Show a0001c0001t0001g0021 a0001c0005t0002g0039 a0001c0008t0043g0111 a0001c0018t0047g0112	4	142	0.0282	-36	c.163 others(53): Show c.163+8106_163+8141delCTCTCTCTCTCTCTATACATATATATAT ATATATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26782017	TATATATA others(29): Show TATATATATATATATATGTATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18956.hp1 HG02523.hp2 NA18956.hp1	a0001 a0008 a0001 a0008	a0001c0004 a0008c0039 a0001c0004 a0008c0039	a0001c0004t0001 a0008c0039t0001 a0001c0004t0001 a0008c0039t0001	a0001c0004t0001g0018 a0008c0039t0001g0022 a0001c0004t0001g0018 a0008c0039t0001g0022	2	142	0.0141	-36	c.163 others(53): Show c.163+8104_163+8139delCTCTCTCTCTCTCTCTATACATATATAT ATATATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar

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