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
ITPR1_chr3_4488348_4852506	4553293	A A	ACAGCTGA others(6): Show ACAGCTGACCTGAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0103 a0001c0103	a0001c0103t0002 a0001c0103t0002	a0001c0103t0002g0120 a0001c0103t0002g0120	1	176	0.0057	13	c.163 others(32): Show c.163+32201_163+32202insGCTGACCTGACCA	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4609051	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0056 a0001c0003t0001g0056	1	176	0.0057	13	c.164 others(32): Show c.164-18712_164-18711insTATATATATATAT	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61			chr3	TogoVar
ITPR1_chr3_4488348_4852506	4610999	C C	CTCCTTCT others(6): Show CTCCTTCTCCTTCT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01256.hp2 HG01257.hp2 others(2): Show HG01175.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0001c0056	a0001c0001t0005 a0001c0002t0001 a0001c0011t0001 others(1): Show a0001c0001t0005 a0001c0002t0001 a0001c0011t0001 a0001c0056t0003	a0001c0001t0005g0089 a0001c0002t0001g0162 a0001c0011t0001g0042 others(2): Show a0001c0001t0005g0089 a0001c0002t0001g0162 a0001c0011t0001g0042 a0001c0011t0001g0145 a0001c0056t0003g0007	5	176	0.0284	13	c.164 others(32): Show c.164-16764_164-16763insTCCTTCTCCTTCT	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61			chr3	TogoVar
ITPR1_chr3_4488348_4852506	4650605	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0103 a0001c0006t0001g0103	1	176	0.0057	13	c.856 others(30): Show c.856-1518_856-1517insGTGTGTGTGTGTG	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	10/61			chr3	TogoVar
ITPR1_chr3_4488348_4852506	4697455	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG01071.hp1 others(23): Show HG00323.hp1 HG00423.hp2 HG01071.hp1 HG01081.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01516.hp1 HG01884.hp2 HG01978.hp2 HG02148.hp2 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG03239.hp1 HG03654.hp1 HG03834.hp1 NA18960.hp2 NA18982.hp2 NA19074.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0001c0005 others(16): Show a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0018 a0001c0020 a0001c0023 a0001c0027 a0001c0044 a0001c0045 a0001c0067 a0001c0076 a0001c0085 a0003c0052	a0001c0002t0002 a0001c0004t0001 a0001c0005t0001 others(18): Show a0001c0002t0002 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0001c0010t0001 a0001c0011t0001 a0001c0013t0003 a0001c0014t0001 a0001c0018t0001 a0001c0018t0002 a0001c0020t0001 a0001c0023t0003 a0001c0023t0016 a0001c0027t0002 a0001c0044t0001 a0001c0045t0005 a0001c0067t0001 a0001c0076t0003 a0001c0085t0001 a0003c0052t0008	a0001c0002t0002g0058 a0001c0002t0002g0074 a0001c0004t0001g0084 others(23): Show a0001c0002t0002g0058 a0001c0002t0002g0074 a0001c0004t0001g0084 a0001c0005t0001g0167 a0001c0007t0001g0076 a0001c0008t0001g0006 a0001c0010t0001g0032 a0001c0010t0001g0055 a0001c0010t0001g0150 a0001c0011t0001g0042 a0001c0011t0001g0145 a0001c0013t0003g0138 a0001c0014t0001g0064 a0001c0014t0001g0133 a0001c0018t0001g0097 a0001c0018t0002g0044 a0001c0020t0001g0081 a0001c0023t0003g0137 a0001c0023t0016g0152 a0001c0027t0002g0109 a0001c0044t0001g0069 a0001c0045t0005g0159 a0001c0067t0001g0148 a0001c0076t0003g0141 a0001c0085t0001g0080 a0003c0052t0008g0164	26	176	0.1477	13	c.440 others(30): Show c.4407+185_4407+197dupTTTTTTTTTTTTT	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	34/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4722748	G G	GAAATGTT others(6): Show GAAATGTTTTATGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01071.hp1 HG01081.hp1 others(37): Show HG00423.hp2 HG01071.hp1 HG01081.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01433.hp2 HG01516.hp1 HG01884.hp2 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02148.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02647.hp1 HG02886.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 NA18906.hp2 NA18945.hp2 NA18960.hp2 NA18982.hp1 NA18982.hp2 NA18991.hp1 NA19074.hp1 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0001c0004 a0001c0005 others(27): Show a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0018 a0001c0020 a0001c0023 a0001c0027 a0001c0031 a0001c0032 a0001c0033 a0001c0041 a0001c0043 a0001c0044 a0001c0045 a0001c0049 a0001c0050 a0001c0064 a0001c0068 a0001c0076 a0001c0080 a0001c0081 a0001c0085 a0001c0099 a0006c0098	a0001c0002t0002 a0001c0004t0001 a0001c0004t0021 others(32): Show a0001c0002t0002 a0001c0004t0001 a0001c0004t0021 a0001c0005t0001 a0001c0005t0007 a0001c0007t0001 a0001c0007t0002 a0001c0008t0001 a0001c0010t0001 a0001c0011t0001 a0001c0013t0003 a0001c0014t0001 a0001c0018t0001 a0001c0018t0002 a0001c0020t0001 a0001c0023t0003 a0001c0023t0016 a0001c0027t0002 a0001c0031t0004 a0001c0032t0010 a0001c0033t0009 a0001c0041t0001 a0001c0043t0002 a0001c0044t0001 a0001c0045t0005 a0001c0049t0001 a0001c0050t0004 a0001c0064t0004 a0001c0068t0004 a0001c0076t0003 a0001c0080t0001 a0001c0081t0001 a0001c0085t0001 a0001c0099t0002 a0006c0098t0004	a0001c0002t0002g0074 a0001c0004t0001g0084 a0001c0004t0021g0115 others(37): Show a0001c0002t0002g0074 a0001c0004t0001g0084 a0001c0004t0021g0115 a0001c0005t0001g0167 a0001c0005t0007g0024 a0001c0007t0001g0076 a0001c0007t0002g0029 a0001c0008t0001g0006 a0001c0008t0001g0020 a0001c0008t0001g0113 a0001c0010t0001g0032 a0001c0010t0001g0055 a0001c0010t0001g0150 a0001c0011t0001g0042 a0001c0011t0001g0145 a0001c0013t0003g0138 a0001c0014t0001g0133 a0001c0018t0001g0097 a0001c0018t0002g0044 a0001c0020t0001g0081 a0001c0023t0003g0137 a0001c0023t0016g0152 a0001c0027t0002g0109 a0001c0031t0004g0127 a0001c0032t0010g0166 a0001c0033t0009g0114 a0001c0041t0001g0022 a0001c0043t0002g0092 a0001c0044t0001g0069 a0001c0045t0005g0159 a0001c0049t0001g0015 a0001c0050t0004g0134 a0001c0064t0004g0017 a0001c0068t0004g0174 a0001c0076t0003g0141 a0001c0080t0001g0131 a0001c0081t0001g0033 a0001c0085t0001g0080 a0001c0099t0002g0026 a0006c0098t0004g0016	40	176	0.2273	13	c.513 others(32): Show c.5137-2798_5137-2797insAAATGTTTTATGT	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	40/61			chr3	TogoVar
ITPR2_chr12_26330352_26838194	26623326	G G	GTGGAGAT others(6): Show GTGGAGATGGGGGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03225.hp1 HG03516.hp1 HG02970.hp1 HG03225.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0020 a0002c0023 a0001c0020 a0002c0023	a0001c0020t0032 a0002c0023t0019 a0001c0020t0032 a0002c0023t0019	a0001c0020t0032g0062 a0002c0023t0019g0131 a0002c0023t0019g0132 a0001c0020t0032g0062 a0002c0023t0019g0131 a0002c0023t0019g0132	3	142	0.0211	13	c.312 others(30): Show c.3123-922_3123-921insTCCCCCATCTCCA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	24/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26666162	A A	ATAGATAG others(6): Show ATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00738.hp1 others(19): Show HG00140.hp2 HG00323.hp1 HG00738.hp1 HG01070.hp1 HG01243.hp1 HG01361.hp2 HG01981.hp1 HG02040.hp1 HG02132.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG04199.hp2 NA18906.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0004 a0001c0011 others(14): Show a0001c0001 a0001c0004 a0001c0011 a0001c0013 a0001c0020 a0001c0021 a0001c0037 a0001c0044 a0001c0055 a0001c0058 a0001c0059 a0001c0061 a0001c0062 a0001c0064 a0002c0009 a0003c0038 a0010c0066	a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 a0001c0011t0001 a0001c0011t0008 a0001c0013t0002 a0001c0020t0001 a0001c0021t0006 a0001c0037t0009 a0001c0044t0001 a0001c0055t0008 a0001c0058t0050 a0001c0059t0002 a0001c0061t0045 a0001c0062t0020 a0001c0064t0008 a0002c0009t0001 a0002c0009t0041 a0003c0038t0009 a0010c0066t0001	a0001c0001t0001g0045 a0001c0001t0003g0088 a0001c0001t0003g0089 others(19): Show a0001c0001t0001g0045 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0004t0003g0093 a0001c0011t0001g0008 a0001c0011t0008g0044 a0001c0013t0002g0020 a0001c0020t0001g0085 a0001c0021t0006g0033 a0001c0037t0009g0052 a0001c0044t0001g0067 a0001c0055t0008g0059 a0001c0058t0050g0116 a0001c0059t0002g0090 a0001c0061t0045g0114 a0001c0062t0020g0126 a0001c0064t0008g0024 a0002c0009t0001g0027 a0002c0009t0001g0029 a0002c0009t0041g0110 a0003c0038t0009g0012 a0010c0066t0001g0055	22	142	0.1549	13	c.141 others(30): Show c.1410-112_1410-111insATCTATCTATCTA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	13/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26696052	T T	TTTACATG others(6): Show TTTACATGTTTTAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0039 a0001c0005t0002g0039	1	142	0.0070	13	c.952 others(28): Show c.952-403_952-402insGTAAAACATGTAA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	9/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26784357	C C	CTCTCCCT others(6): Show CTCTCCCTCCGCGG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0058 a0001c0058	a0001c0058t0050 a0001c0058t0050	a0001c0058t0050g0116 a0001c0058t0050g0116	1	142	0.0070	13	c.163 others(30): Show c.163+5799_163+5800insCCGCGGAGGGAGA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26784363	C C	CTCCACGG others(6): Show CTCCACGGTCTCCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01070.hp2 HG01071.hp1 others(28): Show HG00323.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01168.hp2 HG01433.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02109.hp2 HG02132.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02738.hp1 HG03017.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03492.hp2 HG03704.hp1 HG03834.hp1 HG03942.hp1 HG04199.hp1 NA18747.hp2 NA18956.hp1 NA18964.hp1 NA18970.hp1 NA18970.hp2 NA18980.hp1 NA19090.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0021 a0001c0022 a0001c0035 a0001c0040 a0001c0042 a0001c0043 a0003c0047 a0007c0050 a0008c0039	a0001c0001t0001 a0001c0001t0052 a0001c0002t0001 others(27): Show a0001c0001t0001 a0001c0001t0052 a0001c0002t0001 a0001c0002t0006 a0001c0002t0017 a0001c0002t0029 a0001c0003t0001 a0001c0003t0023 a0001c0003t0033 a0001c0004t0001 a0001c0004t0003 a0001c0004t0011 a0001c0004t0048 a0001c0005t0002 a0001c0005t0005 a0001c0005t0016 a0001c0005t0031 a0001c0006t0003 a0001c0007t0005 a0001c0011t0001 a0001c0011t0002 a0001c0021t0006 a0001c0022t0002 a0001c0035t0027 a0001c0040t0005 a0001c0042t0025 a0001c0043t0054 a0003c0047t0004 a0007c0050t0003 a0008c0039t0001	a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0052g0134 others(28): Show a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0052g0134 a0001c0002t0001g0071 a0001c0002t0006g0015 a0001c0002t0017g0070 a0001c0002t0029g0072 a0001c0003t0001g0061 a0001c0003t0023g0135 a0001c0003t0033g0081 a0001c0004t0001g0018 a0001c0004t0003g0093 a0001c0004t0011g0128 a0001c0004t0048g0115 a0001c0005t0002g0039 a0001c0005t0005g0086 a0001c0005t0016g0025 a0001c0005t0031g0104 a0001c0006t0003g0048 a0001c0007t0005g0041 a0001c0011t0001g0008 a0001c0011t0002g0035 a0001c0021t0006g0033 a0001c0022t0002g0004 a0001c0035t0027g0026 a0001c0040t0005g0019 a0001c0042t0025g0001 a0001c0043t0054g0140 a0003c0047t0004g0076 a0007c0050t0003g0016 a0008c0039t0001g0022	31	142	0.2183	13	c.163 others(30): Show c.163+5781_163+5793dupAGGAGACCGTGGA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26784363	C C	CTCCGCGG others(6): Show CTCCGCGGTCTCCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18956.hp2 HG02559.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0029 a0001c0001 a0001c0029	a0001c0001t0003 a0001c0029t0011 a0001c0001t0003 a0001c0029t0011	a0001c0001t0003g0096 a0001c0029t0011g0130 a0001c0001t0003g0096 a0001c0029t0011g0130	2	142	0.0141	13	c.163 others(30): Show c.163+5793_163+5794insAGGAGACCGCGGA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26786449	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02970.hp1 HG03486.hp1 HG02257.hp2 HG02970.hp1 HG03486.hp1	a0001 a0001	a0001c0006 a0001c0011 a0001c0020 a0001c0006 a0001c0011 a0001c0020	a0001c0006t0030 a0001c0011t0001 a0001c0020t0032 a0001c0006t0030 a0001c0011t0001 a0001c0020t0032	a0001c0006t0030g0030 a0001c0011t0001g0008 a0001c0020t0032g0062 a0001c0006t0030g0030 a0001c0011t0001g0008 a0001c0020t0032g0062	3	142	0.0211	13	c.163 others(30): Show c.163+3695_163+3707dupTTTTTTTTTTTTT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR3_chr6_33616322_33701562	33661992	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp2 HG00735.hp1 others(13): Show HG00280.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01928.hp1 HG02071.hp1 HG02155.hp2 HG02922.hp2 HG04184.hp2 NA18939.hp1 NA18964.hp1 NA18984.hp1 NA18989.hp2 NA19074.hp1 NA19080.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0001c0019 others(8): Show a0001c0003 a0001c0005 a0001c0019 a0001c0022 a0001c0055 a0001c0056 a0001c0057 a0001c0072 a0002c0009 a0002c0025 a0002c0060	a0001c0003t0001 a0001c0003t0003 a0001c0005t0003 others(9): Show a0001c0003t0001 a0001c0003t0003 a0001c0005t0003 a0001c0019t0001 a0001c0022t0001 a0001c0055t0001 a0001c0056t0001 a0001c0057t0001 a0001c0072t0005 a0002c0009t0001 a0002c0025t0001 a0002c0060t0003	a0001c0003t0001g0130 a0001c0003t0001g0160 a0001c0003t0001g0166 others(13): Show a0001c0003t0001g0130 a0001c0003t0001g0160 a0001c0003t0001g0166 a0001c0003t0001g0248 a0001c0003t0003g0168 a0001c0003t0003g0204 a0001c0005t0003g0205 a0001c0019t0001g0035 a0001c0022t0001g0122 a0001c0055t0001g0103 a0001c0056t0001g0227 a0001c0057t0001g0169 a0001c0072t0005g0036 a0002c0009t0001g0179 a0002c0025t0001g0034 a0002c0060t0003g0112	16	342	0.0468	13	c.712 others(28): Show c.712-523_712-511dupAAAAAAAAAAAAA	ITPR3	ENSG00000096433.11	transcript	ENST00000605930.3	protein_coding	7/57		INFO_REALIGN_3_PRIME	chr6	TogoVar
ITPR3_chr6_33616322_33701562	33666289	C C	CAAAAAAT others(6): Show CAAAAAATTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp2 HG03041.hp2 others(2): Show HG02615.hp2 HG02818.hp2 HG03041.hp2 HG03098.hp1 NA18522.hp1	a0001 a0002 a0020 a0001 a0002 a0020	a0001c0018 a0002c0083 a0020c0061 a0001c0018 a0002c0083 a0020c0061	a0001c0018t0001 a0002c0083t0001 a0020c0061t0001 a0001c0018t0001 a0002c0083t0001 a0020c0061t0001	a0001c0018t0001g0063 a0001c0018t0001g0181 a0001c0018t0001g0210 others(2): Show a0001c0018t0001g0063 a0001c0018t0001g0181 a0001c0018t0001g0210 a0002c0083t0001g0270 a0020c0061t0001g0180	5	342	0.0146	13	c.155 others(30): Show c.1551+319_1551+331dupATTTTTTTAAAAA	ITPR3	ENSG00000096433.11	transcript	ENST00000605930.3	protein_coding	14/57		INFO_REALIGN_3_PRIME	chr6	TogoVar
ITPR3_chr6_33616322_33701562	33666302	T T	TAAAAAAT others(6): Show TAAAAAATTTTTTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01069.hp2 HG01070.hp1 others(5): Show HG00280.hp2 HG01069.hp2 HG01070.hp1 HG01884.hp2 HG02809.hp1 NA18522.hp2 NA18906.hp1 NA19066.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0031 a0002c0013 a0015c0064 a0001c0031 a0002c0013 a0015c0064	a0001c0031t0001 a0002c0013t0001 a0015c0064t0001 a0001c0031t0001 a0002c0013t0001 a0015c0064t0001	a0001c0031t0001g0285 a0002c0013t0001g0024 a0002c0013t0001g0102 others(5): Show a0001c0031t0001g0285 a0002c0013t0001g0024 a0002c0013t0001g0102 a0002c0013t0001g0214 a0002c0013t0001g0263 a0002c0013t0001g0269 a0002c0013t0001g0304 a0015c0064t0001g0065	8	342	0.0234	13	c.155 others(30): Show c.1551+331_1551+332insATTTTTTAAAAAA	ITPR3	ENSG00000096433.11	transcript	ENST00000605930.3	protein_coding	14/57		INFO_REALIGN_3_PRIME	chr6	TogoVar
ITPRID1_chr7_31509090_31661504	31565739	A A	AAAAAATA others(6): Show AAAAAATAAAAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(170): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18975.hp2 NA18978.hp2 NA18981.hp1 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0013 a0014 a0017 a0019 a0021 a0022 a0023 a0025 a0026	a0001c0002 a0001c0003 a0001c0011 others(30): Show a0001c0002 a0001c0003 a0001c0011 a0001c0014 a0002c0001 a0002c0004 a0003c0005 a0003c0008 a0003c0012 a0003c0021 a0004c0006 a0004c0017 a0004c0025 a0004c0027 a0004c0028 a0004c0044 a0005c0009 a0005c0039 a0006c0010 a0006c0022 a0009c0019 a0009c0041 a0010c0029 a0013c0026 a0013c0045 a0014c0024 a0017c0048 a0019c0040 a0021c0043 a0022c0036 a0023c0035 a0025c0032 a0026c0030	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(45): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0012 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0019 a0001c0003t0020 a0001c0003t0021 a0001c0003t0032 a0001c0011t0002 a0001c0014t0007 a0002c0001t0001 a0002c0004t0001 a0002c0004t0002 a0002c0004t0007 a0002c0004t0013 a0003c0005t0003 a0003c0008t0003 a0003c0012t0006 a0003c0021t0006 a0004c0006t0006 a0004c0017t0011 a0004c0025t0028 a0004c0027t0003 a0004c0028t0003 a0004c0044t0003 a0005c0009t0004 a0005c0009t0029 a0005c0039t0004 a0006c0010t0004 a0006c0022t0004 a0009c0019t0004 a0009c0041t0004 a0010c0029t0005 a0013c0026t0001 a0013c0026t0008 a0013c0045t0008 a0014c0024t0009 a0017c0048t0001 a0019c0040t0017 a0021c0043t0002 a0022c0036t0001 a0023c0035t0001 a0025c0032t0008 a0026c0030t0023	a0001c0002t0001g0091 a0001c0002t0001g0102 a0001c0002t0001g0104 others(168): Show a0001c0002t0001g0091 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0118 a0001c0002t0001g0121 a0001c0002t0002g0007 a0001c0002t0002g0037 a0001c0002t0002g0068 a0001c0002t0002g0093 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0106 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0111 a0001c0002t0002g0113 a0001c0002t0002g0115 a0001c0002t0002g0117 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0128 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0229 a0001c0002t0002g0232 a0001c0002t0003g0023 a0001c0002t0003g0116 a0001c0002t0005g0127 a0001c0002t0012g0092 a0001c0002t0012g0094 a0001c0002t0012g0124 a0001c0003t0001g0005 a0001c0003t0001g0010 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0020 a0001c0003t0001g0022 a0001c0003t0001g0028 a0001c0003t0001g0031 a0001c0003t0001g0036 a0001c0003t0001g0039 a0001c0003t0001g0042 a0001c0003t0001g0049 a0001c0003t0001g0051 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0062 a0001c0003t0001g0064 a0001c0003t0001g0067 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0078 a0001c0003t0001g0230 a0001c0003t0002g0021 a0001c0003t0002g0025 a0001c0003t0002g0035 a0001c0003t0002g0050 a0001c0003t0002g0055 a0001c0003t0002g0066 a0001c0003t0002g0074 a0001c0003t0007g0059 a0001c0003t0007g0063 a0001c0003t0019g0045 a0001c0003t0020g0034 a0001c0003t0021g0079 a0001c0003t0032g0032 a0001c0011t0002g0029 a0001c0011t0002g0033 a0001c0011t0002g0038 a0001c0011t0002g0060 a0001c0011t0002g0077 a0001c0014t0007g0231 a0002c0001t0001g0169 a0002c0001t0001g0284 a0002c0004t0001g0138 a0002c0004t0001g0139 a0002c0004t0001g0141 a0002c0004t0001g0144 a0002c0004t0001g0145 a0002c0004t0001g0146 a0002c0004t0001g0148 a0002c0004t0001g0153 a0002c0004t0001g0154 a0002c0004t0001g0155 a0002c0004t0001g0156 a0002c0004t0001g0158 a0002c0004t0001g0159 a0002c0004t0001g0171 a0002c0004t0001g0223 a0002c0004t0001g0233 a0002c0004t0001g0234 a0002c0004t0001g0270 a0002c0004t0002g0136 a0002c0004t0002g0142 a0002c0004t0002g0149 a0002c0004t0002g0157 a0002c0004t0007g0135 a0002c0004t0013g0147 a0003c0005t0003g0172 a0003c0008t0003g0002 a0003c0008t0003g0006 a0003c0008t0003g0151 a0003c0008t0003g0160 a0003c0008t0003g0161 a0003c0012t0006g0224 a0003c0021t0006g0225 a0003c0021t0006g0262 a0004c0006t0006g0129 a0004c0006t0006g0130 a0004c0017t0011g0305 a0004c0017t0011g0306 a0004c0025t0028g0226 a0004c0027t0003g0043 a0004c0027t0003g0044 a0004c0028t0003g0058 a0004c0028t0003g0080 a0004c0044t0003g0099 a0005c0009t0004g0001 a0005c0009t0004g0018 a0005c0009t0004g0019 a0005c0009t0004g0041 a0005c0009t0004g0048 a0005c0009t0029g0061 a0005c0039t0004g0131 a0006c0010t0004g0140 a0006c0010t0004g0143 a0006c0010t0004g0150 a0006c0010t0004g0219 a0006c0010t0004g0222 a0006c0022t0004g0221 a0009c0019t0004g0040 a0009c0019t0004g0052 a0009c0019t0004g0065 a0009c0041t0004g0227 a0010c0029t0005g0013 a0010c0029t0005g0024 a0013c0026t0001g0082 a0013c0026t0008g0164 a0013c0045t0008g0298 a0014c0024t0009g0137 a0017c0048t0001g0004 a0019c0040t0017g0089 a0021c0043t0002g0123 a0022c0036t0001g0213 a0023c0035t0001g0220 a0025c0032t0008g0268 a0026c0030t0023g0170	173	312	0.5545	13	c.257 others(30): Show c.257-4013_257-4001dupTAAAAAATAAAAA	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31588631	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01243.hp1 HG02083.hp1 others(1): Show HG01168.hp2 HG01243.hp1 HG02083.hp1 NA19081.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0002c0001 a0002c0004 others(1): Show a0001c0002 a0002c0001 a0002c0004 a0006c0010	a0001c0002t0001 a0002c0001t0001 a0002c0004t0001 others(1): Show a0001c0002t0001 a0002c0001t0001 a0002c0004t0001 a0006c0010t0004	a0001c0002t0001g0102 a0002c0001t0001g0279 a0002c0004t0001g0156 others(1): Show a0001c0002t0001g0102 a0002c0001t0001g0279 a0002c0004t0001g0156 a0006c0010t0004g0222	4	312	0.0128	13	c.122 others(32): Show c.1228+5451_1228+5452insAAAAAAAAAAAAA	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31599648	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0010 a0001c0003t0001g0010	1	312	0.0032	13	c.122 others(34): Show c.1228+16457_1228+16458insCTTTCTTTCTTTC	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14			chr7	TogoVar
ITSN1_chr21_33637501_33904861	33682805	A A	AGCCACCA others(6): Show AGCCACCACCCCCG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01243.hp1 others(6): Show HG00639.hp1 HG00741.hp2 HG01243.hp1 HG01952.hp1 HG02055.hp2 HG02258.hp2 HG02559.hp2 HG03453.hp2 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0028 others(2): Show a0001c0001 a0001c0002 a0001c0028 a0001c0029 a0003c0008	a0001c0001t0019 a0001c0001t0022 a0001c0002t0013 others(5): Show a0001c0001t0019 a0001c0001t0022 a0001c0002t0013 a0001c0002t0015 a0001c0028t0059 a0001c0029t0069 a0003c0008t0026 a0003c0008t0076	a0001c0001t0019g0080 a0001c0001t0022g0236 a0001c0002t0013g0064 others(6): Show a0001c0001t0019g0080 a0001c0001t0022g0236 a0001c0002t0013g0064 a0001c0002t0015g0081 a0001c0028t0059g0152 a0001c0029t0069g0153 a0003c0008t0026g0034 a0003c0008t0026g0035 a0003c0008t0076g0033	9	242	0.0372	13	c.-32 others(32): Show c.-32-35989_-32-35988insACCACCCCCGGCC	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN1_chr21_33637501_33904861	33718627	A A	ACAACTGT others(6): Show ACAACTGTATACTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18986.hp2 NA18991.hp1 others(1): Show NA18942.hp2 NA18986.hp2 NA18991.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0002 a0001c0002t0017 a0001c0007t0003 a0001c0001t0002 a0001c0002t0017 a0001c0007t0003	a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0002t0017g0012 others(1): Show a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0002t0017g0012 a0001c0007t0003g0024	4	242	0.0165	13	c.-32 others(28): Show c.-32-169_-32-157dupCAACTGTATACTT	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN1_chr21_33637501_33904861	33877059	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01167.hp1 others(44): Show HG00741.hp1 HG00741.hp2 HG01167.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18986.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0027 a0001c0029 a0002c0004 a0003c0008	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 others(37): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0031 a0001c0001t0034 a0001c0001t0040 a0001c0001t0057 a0001c0001t0075 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0013 a0001c0002t0015 a0001c0002t0016 a0001c0002t0046 a0001c0002t0071 a0001c0003t0009 a0001c0003t0029 a0001c0003t0030 a0001c0005t0004 a0001c0006t0007 a0001c0006t0008 a0001c0006t0073 a0001c0007t0003 a0001c0007t0011 a0001c0007t0032 a0001c0009t0072 a0001c0027t0010 a0001c0029t0069 a0002c0004t0068 a0003c0008t0026 a0003c0008t0076	a0001c0001t0002g0120 a0001c0001t0006g0196 a0001c0001t0010g0065 others(44): Show a0001c0001t0002g0120 a0001c0001t0006g0196 a0001c0001t0010g0065 a0001c0001t0011g0197 a0001c0001t0012g0200 a0001c0001t0012g0228 a0001c0001t0012g0238 a0001c0001t0019g0028 a0001c0001t0019g0080 a0001c0001t0020g0167 a0001c0001t0021g0079 a0001c0001t0022g0066 a0001c0001t0031g0213 a0001c0001t0034g0023 a0001c0001t0040g0074 a0001c0001t0057g0175 a0001c0001t0075g0063 a0001c0002t0001g0170 a0001c0002t0006g0162 a0001c0002t0007g0057 a0001c0002t0007g0163 a0001c0002t0008g0075 a0001c0002t0008g0076 a0001c0002t0010g0199 a0001c0002t0010g0237 a0001c0002t0013g0064 a0001c0002t0015g0081 a0001c0002t0016g0061 a0001c0002t0046g0073 a0001c0002t0071g0193 a0001c0003t0009g0078 a0001c0003t0029g0010 a0001c0003t0030g0208 a0001c0005t0004g0043 a0001c0006t0007g0177 a0001c0006t0008g0161 a0001c0006t0073g0069 a0001c0007t0003g0024 a0001c0007t0011g0176 a0001c0007t0032g0227 a0001c0009t0072g0226 a0001c0027t0010g0240 a0001c0029t0069g0153 a0002c0004t0068g0169 a0003c0008t0026g0034 a0003c0008t0026g0035 a0003c0008t0076g0033	47	242	0.1942	13	c.434 others(32): Show c.4341+1550_4341+1551insTTTTTTTTTTTTT	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	34/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN2_chr2_24197864_24365536	24251309	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA20752.hp2 NA18945.hp1 NA20752.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0158 a0003c0002t0001g0165 a0003c0002t0001g0158 a0003c0002t0001g0165	2	224	0.0089	13	c.312 others(32): Show c.3120+1023_3120+1035dupTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24251309	C C	CAAAAAAA others(6): Show CAAAAAAAAAATAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG01099.hp1 others(9): Show HG00323.hp1 HG00642.hp2 HG01099.hp1 HG01516.hp1 HG02015.hp1 HG02155.hp1 HG02572.hp2 HG02976.hp2 HG03139.hp1 HG03654.hp2 HG03688.hp1 NA18989.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0021 a0013c0017 a0001c0001 a0001c0021 a0013c0017	a0001c0001t0001 a0001c0021t0001 a0013c0017t0001 a0001c0001t0001 a0001c0021t0001 a0013c0017t0001	a0001c0001t0001g0032 a0001c0001t0001g0070 a0001c0001t0001g0071 others(9): Show a0001c0001t0001g0032 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0130 a0001c0001t0001g0191 a0001c0021t0001g0121 a0013c0017t0001g0207	12	224	0.0536	13	c.312 others(32): Show c.3120+1035_3120+1036insTTATTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24251328	A A	AAAAAAAA others(6): Show AAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0202 a0005c0006t0001g0202	1	224	0.0045	13	c.312 others(32): Show c.3120+1016_3120+1017insATATTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24361740	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	224	0.0045	13	c.-14 others(24): Show c.-1471_-1470insTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding		1205		chr2	TogoVar
IVD_chr15_40400795_40426308	40422585	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02040.hp1 others(6): Show HG01167.hp2 HG01169.hp2 HG02040.hp1 HG02280.hp1 HG02735.hp2 HG02976.hp1 HG02976.hp2 HG03710.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0024 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0024 a0001c0001t0002g0035 a0001c0005t0002g0081	9	378	0.0238	13	c.43 others(24): Show c.4322_*4323insTTTTTTTTTTTTT	IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding		1278		chr15	TogoVar
IVD_chr15_40400795_40426308	40422594	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	378	0.0027	13	c.43 others(24): Show c.4331_*4332insTTTTTTTTTTTTC	IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding		1287		chr15	TogoVar
IVL_chr1_152903546_152916886	152913462	G G	GAAGTTCC others(6): Show GAAGTTCCTGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0004 a0005c0006t0002g0004	1	426	0.0024	13	c.19 others(24): Show c.1907_*1908insAAGTTCCTGGTTT	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding		1577		chr1	TogoVar
IWS1_chr2_127475812_127531489	127503701	T T	TAAATAAA others(6): Show TAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0170	1	338	0.0030	13	c.122 others(30): Show c.1220-126_1220-125insTATTTATTTATTT	IWS1	ENSG00000163166.15	transcript	ENST00000295321.9	protein_coding	3/13			chr2	TogoVar
IZUMO3_chr9_24537952_24550897	24547174	C C	CAGGTTTA others(6): Show CAGGTTTAAGGGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0070 a0006c0007t0002g0070	1	426	0.0024	13	c.-15 others(24): Show c.-1526_-1525insTACCCTTAAACCT	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		1278		chr9	TogoVar
JADE1_chr4_128804700_128880224	128810048	T T	TGCTTTGC others(6): Show TGCTTTGCTCGGGA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	278	0.0036	13	c.-27 others(28): Show c.-27+173_-27+185dupCTTTGCTCGGGAG	JADE1	ENSG00000077684.16	transcript	ENST00000226319.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
JADE3_chrX_46907421_47066242	46923393	C C	CTCTCTTT others(6): Show CTCTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01169.hp2 HG02129.hp1 others(7): Show HG00597.hp2 HG01169.hp2 HG02129.hp1 HG03704.hp2 NA18612.hp1 NA18950.hp1 NA18964.hp1 NA18968.hp1 NA18989.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0142 a0001c0001t0003g0143 others(7): Show a0001c0001t0003g0057 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0256	10	258	0.0388	13	c.-12 others(32): Show c.-12+10675_-12+10676insCTCTTTTTTTTTT	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JADE3_chrX_46907421_47066242	46923393	C C	CTCTTTTT others(6): Show CTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02451.hp2 others(1): Show HG01884.hp1 HG01884.hp2 HG02451.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0077 a0001c0001t0001g0167 a0001c0001t0002g0076 others(1): Show a0001c0001t0001g0077 a0001c0001t0001g0167 a0001c0001t0002g0076 a0001c0001t0008g0212	4	258	0.0155	13	c.-12 others(32): Show c.-12+10675_-12+10676insCTTTTTTTTTTTT	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JADE3_chrX_46907421_47066242	46923393	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG00642.hp1 others(6): Show HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01081.hp1 HG02615.hp2 HG02698.hp1 HG03017.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0068 a0001c0001t0001g0178 a0001c0001t0001g0179 others(6): Show a0001c0001t0001g0068 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0002g0184 a0001c0001t0002g0250	9	258	0.0349	13	c.-12 others(32): Show c.-12+10690_-12+10702dupTTTTTTTTTTTTT	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JAK1_chr1_64828229_64971549	64897489	G G	GGGGGGGA others(6): Show GGGGGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02027.hp2 HG02132.hp1 others(22): Show HG00621.hp1 HG02027.hp2 HG02132.hp1 HG02273.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp2 HG02809.hp2 HG03688.hp1 HG04115.hp1 HG04184.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18947.hp1 NA18953.hp1 NA18971.hp2 NA18975.hp2 NA18981.hp1 NA18989.hp1 NA19002.hp2 NA19005.hp2 NA19054.hp2 NA19087.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0107 others(22): Show a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0107 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0168 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0254 a0001c0001t0001g0282 a0001c0001t0002g0172 a0001c0002t0002g0161 a0001c0002t0002g0166	25	326	0.0767	13	c.-77 others(32): Show c.-77-11161_-77-11149dupTCCTCCTCCCCCC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64897528	G G	GGGGGGAG others(6): Show GGGGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02896.hp2 HG01952.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0181 a0001c0001t0009g0111 a0001c0001t0001g0181 a0001c0001t0009g0111	2	326	0.0061	13	c.-77 others(32): Show c.-77-11188_-77-11187insTCCTCCCTCCCCC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64970134	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00673.hp1 HG00673.hp2 others(27): Show HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG01106.hp1 HG01361.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02293.hp2 HG02486.hp1 HG02809.hp2 HG03486.hp2 HG03491.hp1 HG04115.hp1 HG04184.hp1 NA18612.hp2 NA18747.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18957.hp2 NA18968.hp2 NA18986.hp2 NA18995.hp1 NA19009.hp2 NA19078.hp1 NA19083.hp1 NA19086.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0006 a0001c0006t0003 a0001c0015t0002	a0001c0001t0001g0065 a0001c0001t0001g0131 a0001c0001t0001g0143 others(27): Show a0001c0001t0001g0065 a0001c0001t0001g0131 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0002g0128 a0001c0001t0008g0227 a0001c0002t0001g0226 a0001c0002t0002g0132 a0001c0002t0002g0140 a0001c0002t0002g0145 a0001c0002t0002g0166 a0001c0002t0002g0174 a0001c0002t0002g0228 a0001c0003t0001g0130 a0001c0003t0001g0236 a0001c0003t0006g0141 a0001c0006t0003g0164 a0001c0015t0002g0229	30	326	0.0920	13	c.-38 others(24): Show c.-3892_-3880dupTTTTTTTTTTTTT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding		3586		chr1	TogoVar
JAK2_chr9_4980272_5134948	5062500	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG02055.hp2 others(7): Show HG01109.hp2 HG01243.hp1 HG02055.hp2 HG02486.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03486.hp1 HG03669.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 others(1): Show a0001c0002 a0001c0003 a0001c0005 a0001c0009	a0001c0002t0006 a0001c0002t0014 a0001c0002t0015 others(5): Show a0001c0002t0006 a0001c0002t0014 a0001c0002t0015 a0001c0003t0005 a0001c0003t0026 a0001c0003t0045 a0001c0005t0047 a0001c0009t0024	a0001c0002t0006g0012 a0001c0002t0014g0014 a0001c0002t0015g0260 others(7): Show a0001c0002t0006g0012 a0001c0002t0014g0014 a0001c0002t0015g0260 a0001c0002t0015g0261 a0001c0002t0015g0262 a0001c0003t0005g0060 a0001c0003t0026g0020 a0001c0003t0045g0023 a0001c0005t0047g0290 a0001c0009t0024g0190	10	364	0.0275	13	c.105 others(32): Show c.1057-2364_1057-2352dupAAAAAAAAAAAAA	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK3_chr19_17819782_17852982	17827717	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0265 a0001c0001t0071g0265	1	414	0.0024	13	c.320 others(30): Show c.3208-820_3208-808dupTTTTTTTTTTTTT	JAK3	ENSG00000105639.21	transcript	ENST00000458235.7	protein_coding	23/23			chr19	TogoVar
JAKMIP1_chr4_6021199_6205549	6131173	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00558.hp1 others(91): Show HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02055.hp2 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG03017.hp2 HG03098.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp1 NA18941.hp2 NA18942.hp2 NA18949.hp1 NA18950.hp1 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19066.hp1 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0001c0012 others(1): Show a0001c0001 a0001c0009 a0001c0012 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0009t0001 a0001c0012t0001 a0003c0010t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 others(91): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0002g0229 a0001c0001t0003g0197 a0001c0001t0003g0216 a0001c0001t0004g0223 a0001c0009t0001g0170 a0001c0012t0001g0060 a0003c0010t0001g0126	94	233	0.4034	13	c.-14 others(34): Show c.-147-18177_-147-18176insCTTTTTTTTTTTT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6135853	T T	TAACACCT others(6): Show TAACACCTTGGCAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	233	0.0043	13	c.-14 others(34): Show c.-147-22869_-147-22857dupCTGCCAAGGTGTT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6169603	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	233	0.0043	13	c.-14 others(34): Show c.-148+30649_-148+30650insCACACACACACAC	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147637437	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02145.hp2 HG02148.hp2 others(9): Show HG01255.hp1 HG02145.hp2 HG02148.hp2 HG02735.hp1 HG03195.hp1 HG04199.hp2 NA18906.hp2 NA18945.hp2 NA18957.hp1 NA19060.hp1 NA19065.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0018 others(1): Show a0001c0002 a0001c0004 a0001c0018 a0002c0006	a0001c0002t0011 a0001c0004t0006 a0001c0004t0062 others(4): Show a0001c0002t0011 a0001c0004t0006 a0001c0004t0062 a0001c0004t0070 a0001c0004t0090 a0001c0018t0015 a0002c0006t0003	a0001c0002t0011g0087 a0001c0002t0011g0096 a0001c0004t0006g0052 others(9): Show a0001c0002t0011g0087 a0001c0002t0011g0096 a0001c0004t0006g0052 a0001c0004t0006g0068 a0001c0004t0062g0042 a0001c0004t0070g0173 a0001c0004t0090g0199 a0001c0018t0015g0187 a0002c0006t0003g0185 a0002c0006t0003g0219 a0002c0006t0003g0221 a0002c0006t0003g0240	12	250	0.0480	13	c.153 others(30): Show c.1531-402_1531-390dupAAAAAAAAAAAAA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	10/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147750589	C C	CACACACA others(6): Show CACACACACACACA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0183 a0001c0003t0025g0183	1	250	0.0040	13	c.-14 others(34): Show c.-149+31866_-149+31867insTGTGTGTGTGTGT	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147751256	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0235 a0001c0001t0079g0235	1	250	0.0040	13	c.-14 others(34): Show c.-149+31187_-149+31199dupAAAAAAAAAAAAA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147756958	T T	TTTCTTCC others(6): Show TTTCTTCCCCTTCA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0183 a0001c0003t0025g0183	1	250	0.0040	13	c.-14 others(34): Show c.-149+25485_-149+25497dupTGAAGGGGAAGAA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132071835	C C	CCTTTCCT others(6): Show CCTTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02922.hp1 others(1): Show HG01884.hp2 HG02280.hp1 HG02922.hp1 NA20300.hp1	a0002 a0002	a0002c0010 a0002c0031 a0002c0010 a0002c0031	a0002c0010t0009 a0002c0031t0039 a0002c0010t0009 a0002c0031t0039	a0002c0010t0009g0086 a0002c0010t0009g0087 a0002c0010t0009g0089 others(1): Show a0002c0010t0009g0086 a0002c0010t0009g0087 a0002c0010t0009g0089 a0002c0031t0039g0088	4	158	0.0253	13	c.-13 others(32): Show c.-138+5789_-138+5801dupTTTCCTTTCTTTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132100164	G G	GCCCCCAC others(6): Show GCCCCCACACGGAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG00639.hp1 others(32): Show HG00423.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01891.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02523.hp2 HG02647.hp1 HG02717.hp1 HG03017.hp2 HG03927.hp2 HG04184.hp1 HG04228.hp1 NA18944.hp2 NA18960.hp1 NA18966.hp2 NA18983.hp1 NA18999.hp2 NA19004.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0042 a0002c0004 others(11): Show a0001c0001 a0001c0042 a0002c0004 a0002c0005 a0002c0008 a0002c0037 a0002c0047 a0003c0002 a0003c0018 a0004c0007 a0004c0036 a0004c0043 a0005c0012 a0007c0049	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0021 a0001c0042t0023 a0002c0004t0003 a0002c0004t0004 a0002c0005t0001 a0002c0008t0018 a0002c0037t0001 a0002c0047t0022 a0003c0002t0001 a0003c0002t0002 a0003c0018t0002 a0004c0007t0001 a0004c0007t0002 a0004c0036t0001 a0004c0043t0005 a0005c0012t0007 a0005c0012t0033 a0007c0049t0011	a0001c0001t0001g0116 a0001c0001t0002g0027 a0001c0001t0002g0105 others(32): Show a0001c0001t0001g0116 a0001c0001t0002g0027 a0001c0001t0002g0105 a0001c0001t0002g0146 a0001c0001t0002g0156 a0001c0001t0008g0142 a0001c0001t0021g0119 a0001c0042t0023g0126 a0002c0004t0003g0035 a0002c0004t0003g0037 a0002c0004t0004g0038 a0002c0004t0004g0040 a0002c0004t0004g0042 a0002c0004t0004g0051 a0002c0005t0001g0049 a0002c0008t0018g0120 a0002c0037t0001g0139 a0002c0047t0022g0045 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0112 a0003c0002t0001g0113 a0003c0002t0001g0123 a0003c0002t0002g0111 a0003c0018t0002g0117 a0004c0007t0001g0108 a0004c0007t0001g0122 a0004c0007t0002g0121 a0004c0036t0001g0039 a0004c0043t0005g0125 a0005c0012t0007g0047 a0005c0012t0007g0048 a0005c0012t0007g0050 a0005c0012t0033g0046 a0007c0049t0011g0036	35	158	0.2215	13	c.-13 others(32): Show c.-137-4502_-137-4490dupACACGGACCCCCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132145877	G G	GGGCTGGT others(6): Show GGGCTGGTTAGAGC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0001 a0003c0021t0001	a0003c0021t0001g0023 a0003c0021t0001g0023	1	158	0.0063	13	c.174 others(30): Show c.1749+298_1749+310dupGGCTGGTTAGAGC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr10	TogoVar

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