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
IFT140_chr16_1505427_1617072	1507749	GTGTGTCG others(41): Show GTGTGTCGGCCCGGGGTGTGTGTGTATGTGTGTGTGTGTGTGTGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG01070.hp2 others(31): Show HG00408.hp1 HG00544.hp1 HG01070.hp2 HG01071.hp1 HG01261.hp2 HG01928.hp1 HG01993.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02148.hp2 HG03710.hp2 NA18941.hp1 NA18941.hp2 NA18949.hp1 NA18950.hp2 NA18953.hp1 NA18959.hp2 NA18961.hp1 NA18964.hp2 NA18990.hp1 NA19003.hp1 NA19010.hp1 NA19055.hp2 NA19056.hp1 NA19063.hp2 NA19064.hp1 NA19074.hp2 NA19079.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA20752.hp2	a0001 a0002 a0010 others(4): Show a0001 a0002 a0010 a0018 a0019 a0020 a0021	a0001c0002 a0001c0014 a0002c0003 others(6): Show a0001c0002 a0001c0014 a0002c0003 a0010c0021 a0010c0040 a0018c0030 a0019c0033 a0020c0035 a0021c0034	a0001c0002t0003 a0001c0014t0003 a0002c0003t0003 others(6): Show a0001c0002t0003 a0001c0014t0003 a0002c0003t0003 a0010c0021t0002 a0010c0040t0003 a0018c0030t0003 a0019c0033t0003 a0020c0035t0003 a0021c0034t0003	a0001c0002t0003g0064 a0001c0014t0003g0103 a0002c0003t0003g0006 others(31): Show a0001c0002t0003g0064 a0001c0014t0003g0103 a0002c0003t0003g0006 a0002c0003t0003g0007 a0002c0003t0003g0008 a0002c0003t0003g0009 a0002c0003t0003g0011 a0002c0003t0003g0016 a0002c0003t0003g0017 a0002c0003t0003g0019 a0002c0003t0003g0021 a0002c0003t0003g0022 a0002c0003t0003g0023 a0002c0003t0003g0024 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0028 a0002c0003t0003g0029 a0002c0003t0003g0030 a0002c0003t0003g0033 a0002c0003t0003g0034 a0002c0003t0003g0035 a0002c0003t0003g0036 a0002c0003t0003g0037 a0002c0003t0003g0039 a0002c0003t0003g0040 a0010c0021t0002g0315 a0010c0021t0002g0316 a0010c0040t0003g0187 a0018c0030t0003g0198 a0019c0033t0003g0018 a0020c0035t0003g0012 a0021c0034t0003g0010	34	334	0.1018	-48	c.31 others(59): Show c.3147_*3194delTCTCTCACACACACACACACACATACACACACAC CCCGGGCCGACACA	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding		2677		chr16	TogoVar
IGF2BP1_chr17_48992385_49061145	49019934	ATATATAT others(41): Show ATATATATATATATATTTATATACACACACACACACACACACATACACC	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0276 a0001c0001t0017g0276	1	318	0.0031	-48	c.237 others(65): Show c.237-5683_237-5636delTATATATATATATATTTATATACACACA CACACACACACACATACACC	IGF2BP1	ENSG00000159217.10	transcript	ENST00000290341.8	protein_coding	2/14			chr17	TogoVar
IGF2BP1_chr17_48992385_49061145	49019939	TATATATA others(41): Show TATATATATATTTATATACACACACACACACACACACATACACCCACAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG01071.hp2 others(1): Show HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0058 a0001c0001t0009 a0001c0001t0058	a0001c0001t0009g0114 a0001c0001t0009g0115 a0001c0001t0009g0196 others(1): Show a0001c0001t0009g0114 a0001c0001t0009g0115 a0001c0001t0009g0196 a0001c0001t0058g0112	4	318	0.0126	-48	c.237 others(65): Show c.237-5669_237-5622delTTTATATACACACACACACACACACACA TACACCCACACATATATATA	IGF2BP1	ENSG00000159217.10	transcript	ENST00000290341.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
IGF2R_chr6_159964082_160116504	160100723	CCTTTTTT others(41): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02257.hp2 HG02818.hp2 others(5): Show HG01081.hp2 HG02257.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG03041.hp1 HG04204.hp1 NA18948.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0008	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0049 a0003c0012 a0006c0025 a0008c0011	a0001c0001t0002 a0001c0002t0007 a0001c0005t0012 others(5): Show a0001c0001t0002 a0001c0002t0007 a0001c0005t0012 a0001c0049t0004 a0003c0012t0009 a0006c0025t0059 a0008c0011t0030 a0008c0011t0078	a0001c0001t0002g0043 a0001c0002t0007g0058 a0001c0005t0012g0184 others(5): Show a0001c0001t0002g0043 a0001c0002t0007g0058 a0001c0005t0012g0184 a0001c0049t0004g0090 a0003c0012t0009g0088 a0006c0025t0059g0288 a0008c0011t0030g0124 a0008c0011t0078g0008	8	310	0.0258	-48	c.684 others(67): Show c.6843-1795_6843-1748delCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	45/47			chr6	TogoVar
IGHMBP2_chr11_68898891_68945601	68929829	AGTGGCCT others(41): Show AGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp1 NA19240.hp2 HG02258.hp2 HG02622.hp1 NA19240.hp2	a0007 a0012 a0007 a0012	a0007c0007 a0012c0017 a0007c0007 a0012c0017	a0007c0007t0006 a0012c0017t0001 a0007c0007t0006 a0012c0017t0001	a0007c0007t0006g0328 a0012c0017t0001g0049 a0012c0017t0001g0119 a0007c0007t0006g0328 a0012c0017t0001g0049 a0012c0017t0001g0119	3	374	0.0080	-48	c.123 others(65): Show c.1235+511_1235+558delTCCTGATGCGGTGGCCTGGCCCAGGCTG TCCTGGTGGAGACACTGGAG	IGHMBP2	ENSG00000132740.10	transcript	ENST00000255078.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
IGHMBP2_chr11_68898891_68945601	68929877	GGTGGCCT others(41): Show GGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG02723.hp2 others(4): Show HG01884.hp1 HG02486.hp1 HG02723.hp2 HG02896.hp2 HG03453.hp2 HG03540.hp2 NA19043.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0169 a0005c0005t0002g0170 a0005c0005t0002g0171 others(4): Show a0005c0005t0002g0169 a0005c0005t0002g0170 a0005c0005t0002g0171 a0005c0005t0002g0173 a0005c0005t0002g0174 a0005c0005t0002g0175 a0005c0005t0002g0209	7	374	0.0187	-48	c.123 others(65): Show c.1235+541_1235+588delCTGGTGGAGACACTGGAGCCCTGATGCA GTGGCCTGGCCCAGGCTGTC	IGHMBP2	ENSG00000132740.10	transcript	ENST00000255078.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
IGSF21_chr1_18102798_18383483	18330520	AGAGAAGG others(41): Show AGAGAAGGGAAGGTGGGAGACATGGCTGGAGGAAGGGGCAGGGGCGTGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG00642.hp2 others(80): Show HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp2 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03942.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18986.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19084.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0004 a0001c0011 others(5): Show a0001c0001 a0001c0004 a0001c0011 a0001c0013 a0002c0002 a0003c0003 a0004c0012 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0021 a0001c0004t0003 a0001c0004t0011 a0001c0011t0001 a0001c0013t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0012 a0003c0003t0002 a0003c0003t0004 a0003c0003t0009 a0003c0003t0015 a0003c0003t0022 a0004c0012t0018 a0005c0008t0003	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0025 others(80): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0002g0023 a0001c0001t0002g0031 a0001c0001t0002g0046 a0001c0001t0002g0056 a0001c0001t0002g0104 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0003g0168 a0001c0001t0003g0178 a0001c0001t0003g0184 a0001c0001t0003g0186 a0001c0001t0003g0189 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0004g0188 a0001c0001t0009g0018 a0001c0001t0009g0032 a0001c0001t0009g0034 a0001c0001t0009g0105 a0001c0001t0011g0150 a0001c0001t0011g0208 a0001c0001t0011g0210 a0001c0001t0012g0125 a0001c0001t0012g0137 a0001c0001t0021g0197 a0001c0004t0003g0201 a0001c0004t0003g0202 a0001c0004t0003g0213 a0001c0004t0011g0204 a0001c0011t0001g0037 a0001c0013t0002g0102 a0002c0002t0001g0136 a0002c0002t0002g0140 a0002c0002t0003g0203 a0002c0002t0003g0218 a0002c0002t0003g0224 a0002c0002t0012g0138 a0003c0003t0002g0027 a0003c0003t0002g0028 a0003c0003t0002g0143 a0003c0003t0004g0209 a0003c0003t0009g0144 a0003c0003t0015g0035 a0003c0003t0015g0060 a0003c0003t0022g0220 a0004c0012t0018g0041 a0005c0008t0003g0146	83	248	0.3347	-48	c.306 others(65): Show c.306-4281_306-4234delGCGTGGGAGAAGGGAAGGTGGGAGACAT GGCTGGAGGAAGGGGCAGGG	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IHH_chr2_219049424_219065921	219062345	CACTCTCT others(41): Show CACTCTCTGGATCGGTTTTATAAACACAAATTCAGGATTGGATGAGACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0012	1	398	0.0025	-48	c.-19 others(59): Show c.-1926_-1879delAGTCTCATCCAATCCTGAATTTGTGTTTATAAAA CCGATCCAGAGAGT	IHH	ENSG00000163501.7	transcript	ENST00000295731.7	protein_coding		1425		chr2	TogoVar
IL10_chr1_206762602_206777494	206773848	TCTGCCTT others(41): Show TCTGCCTTGGCCCTGCCACTCTATAGTCAGGGCAAATCACTCATCCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	452	0.0022	-48	c.-14 others(59): Show c.-1461_-1414delGGAGGATGAGTGATTTGCCCTGACTATAGAGTGG CAGGGCCAAGGCAG	IL10	ENSG00000136634.7	transcript	ENST00000423557.1	protein_coding		1355		chr1	TogoVar
IL1RAPL1_chrX_28582446_29961718	28963458	ATATCAAT others(41): Show ATATCAATAATTAATACATAGAAATTAATAAATATATATACAAGTAGAT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG04115.hp1 HG02698.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0050 a0001c0001t0003g0029 a0001c0001t0002g0050 a0001c0001t0003g0029	2	135	0.0148	-48	c.82+ others(67): Show c.82+174034_82+174081delTATCAATAATTAATACATAGAAATTA ATAAATATATATACAAGTAGAT	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	2/10			chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	104761887	CCTTCTCC others(41): Show CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	141	0.0071	-48	c.82+ others(67): Show c.82+102898_82+102945delCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTTCTTCTTCTTCT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	104761905	CCTTCTCC others(41): Show CCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03471.hp1 HG03486.hp2 others(1): Show HG02717.hp1 HG03471.hp1 HG03486.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(1): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0002t0001g0132	4	141	0.0284	-48	c.82+ others(67): Show c.82+102916_82+102963delCCTTCTCCTTCTCCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL2RA_chr10_6005689_6067367	6031446	ATATATAT others(41): Show ATATATATACATATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02735.hp2 HG04204.hp2 others(1): Show HG02056.hp1 HG02735.hp2 HG04204.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0126 a0001c0001t0003g0167 a0001c0001t0009g0159 others(1): Show a0001c0001t0003g0126 a0001c0001t0003g0167 a0001c0001t0009g0159 a0001c0001t0009g0164	4	414	0.0097	-48	c.65- others(63): Show c.65-5469_65-5422delCATATATATATATATATATATATATATATA TATATATATGTATATATA	IL2RA	ENSG00000134460.19	transcript	ENST00000379959.8	protein_coding	1/7			chr10	TogoVar
IL33_chr9_6210807_6262983	6218861	CATATATA others(41): Show CATATATATATATGTTCTCCATATATATATATGTTCTCCATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0176 a0001c0006t0002g0176	1	362	0.0028	-48	c.-12 others(65): Show c.-12+3022_-12+3069delGTTCTCCATATATATATATGTTCTCCAT ATATATATATATATATATAT	IL33	ENSG00000137033.12	transcript	ENST00000682010.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
IL3RA_chrX_1331785_1387689	1361016	CCTCTGTC others(41): Show CCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCT	C C	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0007 a0007c0010t0001g0007	1	115	0.0087	-48	c.759 others(65): Show c.759+2221_759+2268delCCCCTCTCTGTCTCTCTCTCCCTTCCCC TCTCTGTCTCTCTCTCCCTT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1369830	AGAGGAGA others(41): Show AGAGGAGATGAGGACACAGACACACACAGAGGGATGACCCTGTGAGGGC	A A	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0001 a0015c0017t0001	a0015c0017t0001g0004 a0015c0017t0001g0004	1	115	0.0087	-48	c.874 others(65): Show c.874+4579_874+4626delGAGGAGATGAGGACACAGACACACACAG AGGGATGACCCTGTGAGGGC	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11			chrX	TogoVar
IL4_chr5_132668989_132687678	132683729	CTGTGTGT others(41): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	422	0.0024	-48	c.11 others(59): Show c.1143_*1190delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTG	IL4	ENSG00000113520.11	transcript	ENST00000231449.7	protein_coding		1052		chr5	TogoVar
IMMP2L_chr7_110657644_111567492	111281132	GAGAAAGA others(41): Show GAGAAAGACAGAAAGACAGAAAGACAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp1 HG02922.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0013 a0001c0002t0004 a0001c0002t0013	a0001c0002t0004g0056 a0001c0002t0013g0057 a0001c0002t0004g0056 a0001c0002t0013g0057	2	84	0.0238	-48	c.239 others(69): Show c.239+206058_239+206105delTTCTTTCTTTCTTTCTTTCTTTCT GTCTTTCTGTCTTTCTGTCTTTCT	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	3/5			chr7	TogoVar
IMMP2L_chr7_110657644_111567492	111281140	CAGAAAGA others(41): Show CAGAAAGACAGAAAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03471.hp1 HG03942.hp1 others(1): Show HG01123.hp2 HG03471.hp1 HG03942.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0001 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0003g0035 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0003g0035 a0001c0001t0011g0002	4	84	0.0476	-48	c.239 others(69): Show c.239+206050_239+206097delTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTGTCTTTCTGTCTTTCT	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	3/5			chr7	TogoVar
INPP1_chr2_190338589_190376665	190365968	TCGCTCTC others(41): Show TCGCTCTCTCGCTCTGTCTCGCTCTCTCTCGCTCTCTCGCTCTGTCTCG	T T	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	410	0.0024	-48	c.266 others(63): Show c.266-725_266-678delGCTCTCTCGCTCTGTCTCGCTCTCTCTCGC TCTCTCGCTCTGTCTCGC	INPP1	ENSG00000151689.13	transcript	ENST00000392329.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5A_chr10_132532787_132788480	132605167	AAGGGGCT others(41): Show AAGGGGCTGGGGATGGGGAAGAAGTGGATCCCCCAGGAGGGAGTGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01952.hp1 HG02015.hp2 others(9): Show HG01109.hp2 HG01952.hp1 HG02015.hp2 HG02109.hp1 HG02895.hp1 HG02897.hp1 HG03098.hp2 HG03540.hp1 HG04199.hp2 NA18945.hp2 NA18971.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0003t0001 a0001c0003t0002 a0001c0005t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(9): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0002g0082 a0001c0001t0010g0047 a0001c0001t0010g0048 a0001c0003t0001g0080 a0001c0003t0002g0081 a0001c0005t0001g0185 a0001c0005t0001g0186	12	204	0.0588	-48	c.76- others(63): Show c.76-2681_76-2634delAGAAGTGGATCCCCCAGGAGGGAGTGGGGG AGGGGCTGGGGATGGGGA	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5F_chr10_119721050_119834147	119722257	GGGGGGGT others(41): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCTTCCGGGAGGGAGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0262 a0002c0002t0002g0262	1	328	0.0031	-48	c.-40 others(59): Show c.-4005_-3958delGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCT TCCGGGAGGGAGGT	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding		3792		chr10	TogoVar
INSC_chr11_15109923_15252208	15229965	TATATATA others(41): Show TATATATATATATATTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG02698.hp2 others(9): Show HG00099.hp2 HG00609.hp1 HG02698.hp2 HG02922.hp1 HG03490.hp1 HG04115.hp2 NA18948.hp2 NA18956.hp1 NA18959.hp2 NA19010.hp1 NA19010.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0004 a0003c0005 others(1): Show a0001c0001 a0002c0004 a0003c0005 a0006c0010	a0001c0001t0001 a0001c0001t0004 a0002c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0002c0004t0001 a0003c0005t0004 a0003c0005t0009 a0006c0010t0001	a0001c0001t0001g0100 a0001c0001t0001g0140 a0001c0001t0001g0172 others(9): Show a0001c0001t0001g0100 a0001c0001t0001g0140 a0001c0001t0001g0172 a0001c0001t0001g0199 a0001c0001t0001g0256 a0001c0001t0004g0181 a0002c0004t0001g0045 a0003c0005t0004g0085 a0003c0005t0009g0052 a0003c0005t0009g0112 a0003c0005t0009g0250 a0006c0010t0001g0056	12	270	0.0444	-48	c.117 others(67): Show c.1170+4152_1170+4199delTATATATATATATATATATATATATA TATATATAATATATATATATAT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
IQCA1_chr2_236319151_236512476	236459486	TGTATACG others(41): Show TGTATACGTATATATGTATACGTATACGTATACATGTATACATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0163 a0001c0001t0004g0163	1	208	0.0048	-48	c.926 others(65): Show c.926+5971_926+6018delGTATACATGTATACATGTATACGTATAC GTATACATATATACGTATAC	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	6/18			chr2	TogoVar
IQCG_chr3_197884077_197964991	197887308	AAGCAGAG others(41): Show AAGCAGAGCCCTTCCCATCACTGACAGTGTTGGGGGTTGAGAGCCCCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0088	1	280	0.0036	-48	c.22 others(59): Show c.2224_*2271delGGGGGGCTCTCAACCCCCAACACTGTCAGTGATG GGAAGGGCTCTGCT	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding		1768		chr3	TogoVar
IQCG_chr3_197884077_197964991	197887499	CCCCCCAG others(41): Show CCCCCCAGCAGAGCCCTTCCCATCACTGAACAGTGTTGGCGGCTGAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0170	1	280	0.0036	-48	c.20 others(59): Show c.2033_*2080delCTCTCAGCCGCCAACACTGTTCAGTGATGGGAAG GGCTCTGCTGGGGG	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding		1577		chr3	TogoVar
IQCG_chr3_197884077_197964991	197887683	GGGGGCTG others(41): Show GGGGGCTGAGAGCCCCCCAGCAGAGCCCTTCCCATCACTGACAGTGTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG01074.hp1 others(46): Show HG00323.hp1 HG00423.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01243.hp1 HG01358.hp2 HG01891.hp2 HG02109.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02698.hp2 HG02717.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18943.hp2 NA18954.hp2 NA18966.hp1 NA18970.hp1 NA18977.hp1 NA19003.hp2 NA19043.hp1 NA19043.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 a0002c0002t0001 a0005c0008t0001	a0001c0001t0001g0273 a0001c0001t0002g0002 a0001c0001t0002g0004 others(46): Show a0001c0001t0001g0273 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0003t0001g0028 a0001c0003t0001g0030 a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0038 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0055 a0001c0003t0001g0099 a0001c0003t0001g0132 a0001c0003t0003g0124 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0002c0002t0001g0029 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0078 a0002c0002t0001g0085 a0002c0002t0001g0088 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0170 a0005c0008t0001g0059	49	280	0.1750	-48	c.18 others(59): Show c.1849_*1896delAGACACTGTCAGTGATGGGAAGGGCTCTGCTGGG GGGCTCTCAGCCCC	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding		1393		chr3	TogoVar
IQCM_chr4_149346709_149820843	149368760	ATATATAT others(41): Show ATATATATATACATATATATACATGTATATATATACATATATATACATG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	252	0.0040	-48	c.139 others(69): Show c.1391-16742_1391-16695delCATGTATATATATGTATATATATA CATGTATATATATGTATATATATA	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149582307	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG02647.hp2 others(3): Show HG01884.hp1 HG02572.hp1 HG02647.hp2 HG02717.hp2 HG03453.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0004c0006t0001 a0001c0001t0001 a0001c0001t0002 a0004c0006t0001	a0001c0001t0001g0106 a0001c0001t0001g0230 a0001c0001t0002g0104 others(3): Show a0001c0001t0001g0106 a0001c0001t0001g0230 a0001c0001t0002g0104 a0004c0006t0001g0008 a0004c0006t0001g0097 a0004c0006t0001g0231	6	252	0.0238	-48	c.749 others(65): Show c.749+5575_749+5622delATATATATATATATATATATATATATAT ATATATATATATATATATAT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	9/13			chr4	TogoVar
IQSEC1_chr3_12892043_13078429	12927398	CAGGTGCA others(41): Show CAGGTGCATGCTCTAACTCCACCCAGGCTGTCTGGTCCCTTCCCCACAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp1 HG01891.hp2 others(10): Show HG01099.hp1 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02258.hp1 HG02723.hp1 HG02886.hp2 HG02965.hp1 HG03130.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp2 NA20300.hp1	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0002 a0001c0001 a0002c0004 others(1): Show a0000c0002 a0001c0001 a0002c0004 a0002c0012	a0000c0002t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0000c0002t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0002c0004t0004 a0002c0004t0014 a0002c0012t0004	a0000c0002t0001g0180 a0001c0001t0003g0038 a0001c0001t0004g0176 others(10): Show a0000c0002t0001g0180 a0001c0001t0003g0038 a0001c0001t0004g0176 a0001c0001t0009g0190 a0002c0004t0004g0054 a0002c0004t0004g0055 a0002c0004t0004g0061 a0002c0004t0004g0063 a0002c0004t0004g0064 a0002c0004t0004g0125 a0002c0004t0014g0235 a0002c0004t0014g0240 a0002c0012t0004g0047	13	250	0.0520	-48	c.156 others(67): Show c.1569-2704_1569-2657delATGTGGGGAAGGGACCAGACAGCCTG GGTGGAGTTAGAGCATGCACCT	IQSEC1	ENSG00000144711.17	transcript	ENST00000613206.2	protein_coding	3/13			chr3	TogoVar
IQSEC3_chr12_61767_183455	159380	AGATTCCT others(41): Show AGATTCCTGGTTCCTGCATGTCAGAGCTTCCTCATTTTTAGTTTACTTT	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0239 a0001c0002t0002g0239	1	282	0.0036	-48	c.244 others(67): Show c.2443+1687_2443+1734delGATTCCTGGTTCCTGCATGTCAGAGC TTCCTCATTTTTAGTTTACTTT	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	7/13			chr12	TogoVar
ISM2_chr14_77469394_77503816	77497761	GGGAGGGA others(41): Show GGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02717.hp1 others(6): Show HG02109.hp1 HG02280.hp1 HG02717.hp1 HG02895.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03579.hp1	a0003 a0005 a0003 a0005	a0003c0004 a0005c0014 a0003c0004 a0005c0014	a0003c0004t0001 a0005c0014t0001 a0003c0004t0001 a0005c0014t0001	a0003c0004t0001g0004 a0003c0004t0001g0022 a0003c0004t0001g0023 others(5): Show a0003c0004t0001g0004 a0003c0004t0001g0022 a0003c0004t0001g0023 a0003c0004t0001g0024 a0003c0004t0001g0025 a0003c0004t0001g0028 a0005c0014t0001g0026 a0005c0014t0001g0027	9	280	0.0321	-48	c.141 others(63): Show c.141+844_141+891delTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCCTCCCTCC	ISM2	ENSG00000100593.18	transcript	ENST00000342219.9	protein_coding	1/6			chr14	TogoVar
ISOC2_chr19_55447985_55466642	55450562	GGGGGACA others(41): Show GGGGGACAGAGACCCAGAGAGAGAGGGGGACAGAGACCCAGAGAGAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0157	1	380	0.0026	-48	c.26 others(59): Show c.2698_*2745delTTCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTCT GGGTCTCTGTCCCC	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		2422		chr19	TogoVar
ITGA11_chr15_68291532_68437163	68397132	ATAAATTA others(41): Show ATAAATTATTATATATTAATTATTATTTAATATTTTAAATTTTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp1 HG03041.hp1 others(3): Show HG00735.hp1 HG01106.hp1 HG03041.hp1 HG03516.hp2 HG03710.hp1 NA19030.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0002 a0001c0005 a0004c0029 others(1): Show a0001c0002 a0001c0005 a0004c0029 a0010c0021	a0001c0002t0018 a0001c0002t0033 a0001c0005t0090 others(2): Show a0001c0002t0018 a0001c0002t0033 a0001c0005t0090 a0004c0029t0119 a0010c0021t0097	a0001c0002t0018g0070 a0001c0002t0033g0208 a0001c0002t0033g0219 others(3): Show a0001c0002t0018g0070 a0001c0002t0033g0208 a0001c0002t0033g0219 a0001c0005t0090g0041 a0004c0029t0119g0128 a0010c0021t0097g0028	6	242	0.0248	-48	c.164 others(65): Show c.164+5738_164+5785delATATATAAAATTTAAAATATTAAATAAT AATTAATATATAATAATTTA	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA11_chr15_68291532_68437163	68397135	AATTATTA others(41): Show AATTATTATATATTAATTATTATTTAATATTTTAAATTTTATATATTAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03453.hp2 HG03471.hp2 HG02970.hp2 HG03453.hp2 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0005 a0001c0081 a0004c0076 a0001c0005 a0001c0081 a0004c0076	a0001c0005t0083 a0001c0081t0012 a0004c0076t0015 a0001c0005t0083 a0001c0081t0012 a0004c0076t0015	a0001c0005t0083g0156 a0001c0081t0012g0238 a0004c0076t0015g0115 a0001c0005t0083g0156 a0001c0081t0012g0238 a0004c0076t0015g0115	3	242	0.0124	-48	c.164 others(65): Show c.164+5735_164+5782delATAATATATAAAATTTAAAATATTAAAT AATAATTAATATATAATAAT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA9_chr3_37447141_37828507	37512004	TTTTCTTT others(41): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	168	0.0060	-48	c.898 others(65): Show c.898-1751_898-1704delTCTTTTCTTTTCTTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGAM_chr16_31254975_31337877	31334657	CTTCCTTC others(41): Show CTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0001 a0001c0005t0004g0001	2	244	0.0082	-48	c.29 others(59): Show c.2951_*2998delTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1781		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31334661	CTTCCTTC others(41): Show CTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02970.hp2 HG03041.hp2 others(2): Show HG02723.hp2 HG02970.hp2 HG03041.hp2 HG03225.hp1 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0149 a0001c0005t0004g0150 a0001c0005t0004g0153 others(2): Show a0001c0005t0004g0149 a0001c0005t0004g0150 a0001c0005t0004g0153 a0001c0005t0004g0155 a0001c0005t0004g0243	5	244	0.0205	-48	c.29 others(59): Show c.2955_*3002delTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1785		chr16	TogoVar
ITIH5_chr10_7554270_7671966	7566838	GGAAGAGG others(41): Show GGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0030 a0003c0002t0002g0031 a0003c0002t0002g0030 a0003c0002t0002g0031	2	342	0.0059	-48	c.215 others(65): Show c.2150-479_2150-432delTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCCTCTTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITSN1_chr21_33637501_33904861	33690775	GTATATAT others(41): Show GTATATATATATATACATATATATATATATATATATATATGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp2 HG03041.hp2 others(1): Show HG02280.hp1 HG02809.hp2 HG03041.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0075 a0001c0002t0010 a0001c0001t0012 a0001c0001t0075 a0001c0002t0010	a0001c0001t0012g0228 a0001c0001t0012g0238 a0001c0001t0075g0063 others(1): Show a0001c0001t0012g0228 a0001c0001t0012g0238 a0001c0001t0075g0063 a0001c0002t0010g0237	4	242	0.0165	-48	c.-32 others(67): Show c.-32-28007_-32-27960delCATATATATATATATATATATATATG TATATATATATATATATATATA	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN2_chr2_24197864_24365536	24251347	ATGTGTGT others(41): Show ATGTGTGTGTGTGTGTGTGTGTGTGTATATATGTATGTGTATATATATG	A A	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18989.hp2 NA18993.hp2 others(1): Show NA18956.hp2 NA18989.hp2 NA18993.hp2 NA19011.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0167 a0003c0002t0001g0184 a0003c0002t0001g0185 others(1): Show a0003c0002t0001g0167 a0003c0002t0001g0184 a0003c0002t0001g0185 a0003c0002t0001g0195	4	224	0.0179	-48	c.312 others(65): Show c.3120+950_3120+997delCATATATATACACATACATATATACACA CACACACACACACACACACA	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
JAKMIP3_chr10_132060946_132189858	132061193	CGCACACA others(41): Show CGCACACACACACCTGCCGTGACGGCGCACACATACACCTGCCGTGACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG04228.hp2 NA20752.hp1 HG00099.hp2 HG04228.hp2 NA20752.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0026 a0004c0045 a0005c0050 a0002c0026 a0004c0045 a0005c0050	a0002c0026t0001 a0004c0045t0001 a0005c0050t0034 a0002c0026t0001 a0004c0045t0001 a0005c0050t0034	a0002c0026t0001g0106 a0004c0045t0001g0090 a0005c0050t0034g0115 a0002c0026t0001g0106 a0004c0045t0001g0090 a0005c0050t0034g0115	3	158	0.0190	-48	c.-50 others(59): Show c.-5005_-4958delGCACACACACACCTGCCGTGACGGCGCACACATA CACCTGCCGTGACG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding		4752		chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132116503	GGTGTGAG others(41): Show GGTGTGAGTGTGTGCATCATGGACGCTCCCCCCGAATACACATTCAGAT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02132.hp1 HG02523.hp1 others(6): Show HG01175.hp1 HG02132.hp1 HG02523.hp1 HG03225.hp1 HG03654.hp2 HG04228.hp2 NA18522.hp1 NA18952.hp2 NA18960.hp2	a0001 a0004 a0001 a0004	a0001c0006 a0001c0015 a0001c0017 others(5): Show a0001c0006 a0001c0015 a0001c0017 a0001c0034 a0004c0007 a0004c0033 a0004c0045 a0004c0046	a0001c0006t0025 a0001c0015t0002 a0001c0015t0028 others(6): Show a0001c0006t0025 a0001c0015t0002 a0001c0015t0028 a0001c0017t0027 a0001c0034t0001 a0004c0007t0004 a0004c0033t0002 a0004c0045t0001 a0004c0046t0007	a0001c0006t0025g0153 a0001c0015t0002g0018 a0001c0015t0028g0017 others(6): Show a0001c0006t0025g0153 a0001c0015t0002g0018 a0001c0015t0028g0017 a0001c0017t0027g0012 a0001c0034t0001g0021 a0004c0007t0004g0092 a0004c0033t0002g0029 a0004c0045t0001g0090 a0004c0046t0007g0091	9	158	0.0570	-48	c.136 others(63): Show c.136-335_136-288delATGTGTGAGTGTGTGCATCATGGACGCTCC CCCCGAATACACATTCAG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132117586	GGCAGGGG others(41): Show GGCAGGGGCGGGCGTGGGCGAGGGTGCAGGGGCGGGCGTGGGCGAGGGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00642.hp1 others(7): Show HG00099.hp2 HG00280.hp1 HG00642.hp1 HG00738.hp1 HG01167.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp2 NA20752.hp2 NA20905.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0002c0005 a0002c0026 others(1): Show a0002c0004 a0002c0005 a0002c0026 a0004c0007	a0002c0004t0003 a0002c0004t0004 a0002c0005t0001 others(2): Show a0002c0004t0003 a0002c0004t0004 a0002c0005t0001 a0002c0026t0001 a0004c0007t0004	a0002c0004t0003g0035 a0002c0004t0003g0037 a0002c0004t0004g0038 others(7): Show a0002c0004t0003g0035 a0002c0004t0003g0037 a0002c0004t0004g0038 a0002c0004t0004g0040 a0002c0004t0004g0042 a0002c0004t0004g0051 a0002c0004t0004g0141 a0002c0005t0001g0016 a0002c0026t0001g0106 a0004c0007t0004g0092	10	158	0.0633	-48	c.633 others(61): Show c.633+42_633+89delGGCGGGCGTGGGCGAGGGTGCAGGGGCGGGCG TGGGCGAGGGTGCAGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132180646	CGTGTGCG others(41): Show CGTGTGCGTGTGCGTGTGTGCGTGTGTGTGCGCGCGCGTGTGTGTGCGT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0001 a0004c0027t0001	a0004c0027t0001g0066 a0004c0027t0001g0066	1	158	0.0063	-48	c.11 others(69): Show c.1104-1709_*1104-1662delTGTGCGTGTGCGTGTGTGCGTGTG TGTGCGCGCGCGTGTGTGTGCGTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132180666	CGTGTGTG others(41): Show CGTGTGTGTGCGCGCGCGTGTGTGTGCGTGCGTGTGTGTGTGCGCGTGT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0071 a0003c0003t0001g0071	1	158	0.0063	-48	c.11 others(69): Show c.1104-1685_*1104-1638delTGTGCGCGCGCGTGTGTGTGCGTG CGTGTGTGTGTGCGCGTGTGTGTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAM3_chr11_134064072_134157001	134154531	CGGGTGGT others(41): Show CGGGTGGTGCAGCCTCACCCCTCCTGGGTGGTGCAGCCTCGCCCCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0136	1	390	0.0026	-48	c.53 others(59): Show c.5351_*5398delGGGTGGTGCAGCCTCACCCCTCCTGGGTGGTGCA GCCTCGCCCCTCCT	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding		2531		chr11	TogoVar
KANK4_chr1_62231165_62324434	62278320	TCTTCCTT others(41): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19030.hp1 HG03579.hp1 NA19030.hp1	a0003 a0008 a0003 a0008	a0003c0035 a0008c0037 a0003c0035 a0008c0037	a0003c0035t0009 a0008c0037t0027 a0003c0035t0009 a0008c0037t0027	a0003c0035t0009g0010 a0008c0037t0027g0313 a0003c0035t0009g0010 a0008c0037t0027g0313	2	322	0.0062	-48	c.16+ others(63): Show c.16+3181_16+3228delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAG	KANK4	ENSG00000132854.19	transcript	ENST00000371153.9	protein_coding	2/9			chr1	TogoVar
KCNAB1_chr3_156115578_156543605	156448712	TTATTCAT others(41): Show TTATTCATTTTTCTATAAGTCATAATAAAGATGTTTGTTTGGTAGGAAA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01884.hp1 HG02055.hp2 others(16): Show HG01346.hp1 HG01884.hp1 HG02055.hp2 HG02572.hp1 HG02615.hp2 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03516.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0002t0010 a0001c0003t0001 a0002c0004t0001 a0002c0004t0004 a0003c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0027 a0001c0001t0001g0030 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0005g0078 a0001c0001t0006g0100 a0001c0001t0012g0063 a0001c0002t0010g0014 a0001c0003t0001g0021 a0002c0004t0001g0033 a0002c0004t0004g0032 a0003c0005t0001g0050	19	124	0.1532	-48	c.320 others(65): Show c.320-4137_320-4090delATTCATTTTTCTATAAGTCATAATAAAG ATGTTTGTTTGGTAGGAAAT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156489382	CGATAGGT others(41): Show CGATAGGTCAAGTAAGATGAAGACGGGATCAGCTATATCAAATGTTACT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0040 a0001c0002t0003g0040	1	124	0.0081	-48	c.658 others(67): Show c.658+14586_658+14633delGGGATCAGCTATATCAAATGTTACTG ATAGGTCAAGTAAGATGAAGAC	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr3	TogoVar

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