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
JAKMIP3_chr10_132060946_132189858	132149631	CCCCTCCG others(11): Show CCCCTCCGCCCCCGCCCCA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp2 HG02965.hp1 others(5): Show HG02630.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp2 HG03471.hp1 NA18522.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0013 a0001c0022 a0001c0032 others(3): Show a0001c0013 a0001c0022 a0001c0032 a0001c0048 a0002c0010 a0004c0030	a0001c0013t0024 a0001c0022t0002 a0001c0032t0037 others(3): Show a0001c0013t0024 a0001c0022t0002 a0001c0032t0037 a0001c0048t0013 a0002c0010t0002 a0004c0030t0030	a0001c0013t0024g0078 a0001c0022t0002g0062 a0001c0022t0002g0080 others(5): Show a0001c0013t0024g0078 a0001c0022t0002g0062 a0001c0022t0002g0080 a0001c0032t0037g0124 a0001c0048t0013g0098 a0002c0010t0002g0157 a0002c0010t0002g0158 a0004c0030t0030g0084	8	158	0.0506	-18	c.194 others(35): Show c.1947+127_1947+144delCGCCCCCGCCCCACCCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132170765	TGGGCGCC others(11): Show TGGGCGCCGCTCCGCTCGG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0011 a0005c0012t0011	a0005c0012t0011g0002 a0005c0012t0011g0002	1	158	0.0063	-18	c.11 others(39): Show c.1103+1737_*1103+1754delGCCGCTCCGCTCGGGGGC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132180640	TGTGTGCG others(11): Show TGTGTGCGTGTGCGTGTGC	T T	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0108 a0004c0007t0001g0108	1	158	0.0063	-18	c.11 others(39): Show c.1104-1711_*1104-1694delCGTGTGCGTGTGCGTGTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132180760	CGTGTGTG others(11): Show CGTGTGTGTGCGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01256.hp2 HG02523.hp1 others(3): Show HG01175.hp2 HG01256.hp2 HG02523.hp1 HG03491.hp1 HG03834.hp2 HG04228.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0013 a0001c0015 a0002c0008 others(2): Show a0001c0013 a0001c0015 a0002c0008 a0004c0011 a0004c0014	a0001c0013t0016 a0001c0015t0002 a0002c0008t0018 others(2): Show a0001c0013t0016 a0001c0015t0002 a0002c0008t0018 a0004c0011t0001 a0004c0014t0001	a0001c0013t0016g0155 a0001c0015t0002g0018 a0002c0008t0018g0120 others(3): Show a0001c0013t0016g0155 a0001c0015t0002g0018 a0002c0008t0018g0120 a0004c0011t0001g0134 a0004c0014t0001g0041 a0004c0014t0001g0074	6	158	0.0380	-18	c.11 others(39): Show c.1104-1591_*1104-1574delTGTGCGTGTGTGTGTGTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JARID2_chr6_15241069_15527042	15263074	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA20905.hp1 HG01496.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0002 a0001c0001t0002 a0001c0007t0002	a0001c0001t0002g0119 a0001c0007t0002g0015 a0001c0001t0002g0119 a0001c0007t0002g0015	2	284	0.0070	-18	c.45+ others(35): Show c.45+16517_45+16534delTGTGTGTGTGTGTGTGTG	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JARID2_chr6_15241069_15527042	15300718	TGTGTGAG others(11): Show TGTGTGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03209.hp1 HG02965.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0148 a0001c0001t0002g0149	2	284	0.0070	-18	c.45+ others(35): Show c.45+54136_45+54153delTGTGAGAGAGAGAGAGAG	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JARID2_chr6_15241069_15527042	15404519	GCACACAC others(11): Show GCACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00738.hp2 others(23): Show HG00323.hp1 HG00438.hp2 HG00738.hp2 HG01261.hp2 HG02132.hp1 HG02273.hp1 HG02280.hp2 HG02486.hp2 HG02735.hp2 HG03239.hp1 HG03492.hp2 HG03669.hp2 HG03704.hp2 HG04199.hp2 HG04204.hp1 NA18943.hp1 NA18950.hp2 NA18960.hp2 NA18998.hp2 NA19005.hp2 NA19010.hp2 NA19057.hp2 NA19065.hp1 NA19068.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0001c0020	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 a0001c0002t0027 a0001c0002t0028 a0001c0008t0001 a0001c0020t0010	a0001c0001t0002g0163 a0001c0001t0002g0225 a0001c0001t0002g0231 others(23): Show a0001c0001t0002g0163 a0001c0001t0002g0225 a0001c0001t0002g0231 a0001c0001t0002g0236 a0001c0001t0002g0240 a0001c0002t0001g0043 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0086 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0172 a0001c0002t0001g0206 a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0235 a0001c0002t0001g0239 a0001c0002t0001g0242 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0002g0193 a0001c0002t0011g0280 a0001c0002t0027g0282 a0001c0002t0028g0214 a0001c0008t0001g0024 a0001c0020t0010g0054	26	284	0.0916	-18	c.182 others(35): Show c.182-5668_182-5651delCACACACACACACACACA	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JARID2_chr6_15241069_15527042	15433410	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03492.hp2 HG03704.hp2 others(2): Show HG03239.hp1 HG03492.hp2 HG03704.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0006 a0001c0001t0002 a0001c0002t0006	a0001c0001t0002g0163 a0001c0001t0002g0231 a0001c0001t0002g0236 others(2): Show a0001c0001t0002g0163 a0001c0001t0002g0231 a0001c0001t0002g0236 a0001c0001t0002g0240 a0001c0002t0006g0089	5	284	0.0176	-18	c.324 others(37): Show c.324-18572_324-18555delGTGTGTGTGTGTGTGTGT	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JARID2_chr6_15241069_15527042	15433921	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp2 HG01256.hp2 others(29): Show HG01074.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01515.hp2 HG01884.hp1 HG02257.hp1 HG02257.hp2 HG02300.hp2 HG02602.hp1 HG02818.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp2 HG03710.hp2 HG03927.hp1 HG04228.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0014 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0012 a0001c0002t0038 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0005t0014 a0002c0024t0006	a0001c0001t0001g0109 a0001c0001t0002g0142 a0001c0001t0002g0144 others(29): Show a0001c0001t0001g0109 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0010g0114 a0001c0001t0010g0260 a0001c0001t0014g0264 a0001c0002t0001g0045 a0001c0002t0004g0263 a0001c0002t0004g0266 a0001c0002t0006g0022 a0001c0002t0006g0089 a0001c0002t0006g0105 a0001c0002t0006g0139 a0001c0002t0006g0141 a0001c0002t0012g0138 a0001c0002t0012g0140 a0001c0002t0038g0096 a0001c0005t0001g0080 a0001c0005t0003g0032 a0001c0005t0004g0031 a0001c0005t0004g0062 a0001c0005t0004g0067 a0001c0005t0004g0071 a0001c0005t0004g0179 a0001c0005t0004g0210 a0001c0005t0004g0219 a0001c0005t0004g0224 a0001c0005t0004g0227 a0001c0005t0014g0158 a0002c0024t0006g0143	32	284	0.1127	-18	c.324 others(37): Show c.324-18052_324-18035delGTGTGTGTGTGTGTGTGT	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JARID2_chr6_15241069_15527042	15454941	GTGGTGTG others(11): Show GTGGTGTGATGATCAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0015 a0001c0007t0002g0015	1	284	0.0035	-18	c.493 others(35): Show c.493+2770_493+2787delTGTGATGATCAGGAATGG	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JAZF1_chr7_27825577_28185795	27979366	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02257.hp2 others(5): Show HG01167.hp1 HG01169.hp1 HG02257.hp2 HG02486.hp2 HG02976.hp1 HG03041.hp2 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0022 a0001c0001t0001 a0001c0001t0018 a0001c0001t0022	a0001c0001t0001g0150 a0001c0001t0001g0166 a0001c0001t0001g0197 others(5): Show a0001c0001t0001g0150 a0001c0001t0001g0166 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0018g0170 a0001c0001t0022g0206	8	206	0.0388	-18	c.188 others(37): Show c.188+12525_188+12542delAAAAAAAAAAAAAAAAAA	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	2/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	28009522	CGCCCAGG others(11): Show CGCCCAGGCTGGAGTGCAG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01175.hp1 HG02040.hp1 others(13): Show HG00558.hp2 HG01175.hp1 HG02040.hp1 HG02040.hp2 HG03942.hp2 NA18747.hp2 NA18944.hp1 NA18948.hp1 NA18965.hp1 NA18966.hp1 NA18984.hp2 NA19004.hp2 NA19057.hp1 NA19057.hp2 NA19074.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0093 others(13): Show a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0002g0008 a0001c0001t0002g0054 a0001c0001t0010g0011	16	206	0.0777	-18	c.116 others(37): Show c.116-17559_116-17542delCTGCACTCCAGCCTGGGC	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	28092290	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	206	0.0049	-18	c.115 others(37): Show c.115+88155_115+88172delTTTTTTTTTTTTTTTTTT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	28118761	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	206	0.0049	-18	c.115 others(37): Show c.115+61684_115+61701delGTGTGTGTGTGTGTGTGT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	28170335	ATATGTGT others(11): Show ATATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02630.hp1 HG03195.hp2 others(2): Show HG02280.hp1 HG02630.hp1 HG03195.hp2 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0021 a0001c0001t0002g0033 others(2): Show a0001c0001t0002g0009 a0001c0001t0002g0021 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035	5	206	0.0243	-18	c.115 others(37): Show c.115+10110_115+10127delCACACACACACACACATA	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	28170337	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01123.hp2 others(12): Show HG01070.hp1 HG01071.hp2 HG01123.hp2 HG01496.hp2 HG01515.hp2 HG02129.hp1 HG02486.hp1 HG02818.hp1 HG03225.hp1 HG03491.hp2 HG03540.hp1 HG03688.hp1 NA18522.hp2 NA18959.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0015 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0020 a0001c0002t0002	a0001c0001t0001g0078 a0001c0001t0001g0099 a0001c0001t0001g0109 others(12): Show a0001c0001t0001g0078 a0001c0001t0001g0099 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0143 a0001c0001t0001g0158 a0001c0001t0015g0180 a0001c0001t0020g0115 a0001c0002t0002g0072	15	206	0.0728	-18	c.115 others(37): Show c.115+10108_115+10125delCACACACACACACACACA	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	28175696	TGTGAGGG others(11): Show TGTGAGGGGAGGTGAGGAG	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0206 a0001c0001t0022g0206	1	206	0.0049	-18	c.115 others(35): Show c.115+4749_115+4766delCTCCTCACCTCCCCTCAC	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JCAD_chr10_30007803_30064586	30058357	TGGAGTGC others(11): Show TGGAGTGCGTGCGGGGGTG	T T	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0005 a0002c0007t0005	a0002c0007t0005g0031 a0002c0007t0005g0031	1	398	0.0025	-18	c.-60 others(35): Show c.-60+1107_-60+1124delCACCCCCGCACGCACTCC	JCAD	ENSG00000165757.9	transcript	ENST00000375377.2	protein_coding	1/3			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63284857	TCACACAC others(11): Show TCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA19000.hp2 NA19004.hp2 others(3): Show NA18985.hp2 NA19000.hp2 NA19004.hp2 NA19068.hp1 NA19080.hp2 NA20805.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0002 a0003c0003t0001 a0004c0004t0002	a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 others(3): Show a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0182 a0003c0003t0001g0195 a0004c0004t0002g0020	6	310	0.0194	-18	c.334 others(37): Show c.334-20111_334-20094delTGTGTGTGTGTGTGTGTG	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63288889	CAATAATA others(11): Show CAATAATAATAATAATAAT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 HG01255.hp1 others(8): Show HG00609.hp2 HG00621.hp2 HG01255.hp1 HG02027.hp1 HG03490.hp1 NA18978.hp2 NA18980.hp2 NA18994.hp2 NA18999.hp1 NA19009.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0019t0001 a0001c0001t0001 a0001c0019t0001	a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0053 others(8): Show a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0019t0001g0035	11	310	0.0355	-18	c.334 others(37): Show c.334-24143_334-24126delATTATTATTATTATTATT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63305629	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	310	0.0032	-18	c.334 others(37): Show c.334-40883_334-40866delACACACACACACACACAC	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMY_chr5_79231131_79332211	79318757	TATATAGA others(11): Show TATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03130.hp2 HG01496.hp1 HG03130.hp2	a0003 a0013 a0003 a0013	a0003c0005 a0013c0018 a0003c0005 a0013c0018	a0003c0005t0009 a0013c0018t0042 a0003c0005t0009 a0013c0018t0042	a0003c0005t0009g0206 a0013c0018t0042g0285 a0003c0005t0009g0206 a0013c0018t0042g0285	2	342	0.0059	-18	c.3+ others(33): Show c.3+2449_*3+2466delTATAGAGAGAGAGAGAGA	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JMY_chr5_79231131_79332211	79318759	TATAGAGA others(11): Show TATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01167.hp2 HG01169.hp2 others(2): Show HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01516.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0002 a0001c0001t0025	a0001c0001t0002g0274 a0001c0001t0002g0277 a0001c0001t0002g0300 others(2): Show a0001c0001t0002g0274 a0001c0001t0002g0277 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0025g0267	5	342	0.0146	-18	c.3+ others(33): Show c.3+2451_*3+2468delTAGAGAGAGAGAGAGAGA	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JMY_chr5_79231131_79332211	79318786	AGAGAGAG others(11): Show AGAGAGAGAGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp1 HG03453.hp2 others(2): Show HG02055.hp2 HG02723.hp1 HG03453.hp2 HG03540.hp2 HG04115.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0003c0005 a0001c0001 a0003c0004 a0003c0005	a0001c0001t0023 a0001c0001t0036 a0003c0004t0014 others(1): Show a0001c0001t0023 a0001c0001t0036 a0003c0004t0014 a0003c0005t0011	a0001c0001t0023g0140 a0001c0001t0036g0278 a0003c0004t0014g0141 others(2): Show a0001c0001t0023g0140 a0001c0001t0036g0278 a0003c0004t0014g0141 a0003c0004t0014g0142 a0003c0005t0011g0182	5	342	0.0146	-18	c.3+ others(33): Show c.3+2479_*3+2496delGAGAGAGAGAGAGAGGGA	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JOSD1_chr22_38680543_38705943	38704284	TTGTTTTT others(11): Show TTGTTTTTTTGTTTTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	376	0.0027	-18	c.-41 others(29): Show c.-4134_-4117delCAAAAAAACAAAAAAACA	JOSD1	ENSG00000100221.11	transcript	ENST00000683374.1	protein_coding		3342		chr22	TogoVar
JPH2_chr20_44101590_44192188	44114565	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00639.hp2 others(26): Show HG00544.hp1 HG00544.hp2 HG00639.hp2 HG01069.hp2 HG01358.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG06807.hp1 HG06807.hp2 NA19000.hp2 NA19030.hp2 NA19063.hp1 NA19082.hp1 NA19088.hp1 NA20129.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0004 a0001c0011 a0002c0010 others(1): Show a0001c0004 a0001c0011 a0002c0010 a0009c0026	a0001c0004t0008 a0001c0004t0014 a0001c0004t0016 others(12): Show a0001c0004t0008 a0001c0004t0014 a0001c0004t0016 a0001c0004t0019 a0001c0004t0035 a0001c0004t0044 a0001c0004t0071 a0001c0004t0072 a0001c0011t0014 a0001c0011t0016 a0002c0010t0014 a0002c0010t0016 a0002c0010t0057 a0002c0010t0070 a0009c0026t0107	a0001c0004t0008g0023 a0001c0004t0008g0056 a0001c0004t0008g0077 others(26): Show a0001c0004t0008g0023 a0001c0004t0008g0056 a0001c0004t0008g0077 a0001c0004t0008g0080 a0001c0004t0008g0089 a0001c0004t0008g0090 a0001c0004t0008g0091 a0001c0004t0014g0232 a0001c0004t0014g0240 a0001c0004t0014g0273 a0001c0004t0014g0279 a0001c0004t0016g0125 a0001c0004t0016g0127 a0001c0004t0019g0176 a0001c0004t0019g0177 a0001c0004t0019g0178 a0001c0004t0019g0179 a0001c0004t0035g0034 a0001c0004t0035g0072 a0001c0004t0044g0092 a0001c0004t0071g0138 a0001c0004t0072g0185 a0001c0011t0014g0199 a0001c0011t0016g0100 a0002c0010t0014g0224 a0002c0010t0016g0103 a0002c0010t0057g0099 a0002c0010t0070g0187 a0009c0026t0107g0331	29	338	0.0858	-18	c.14 others(33): Show c.14+199_*14+216delACACACACACACACACAC	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	5/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44130039	GAGTTTGT others(11): Show GAGTTTGTAGTAATTTGTT	G G	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0029 a0002c0002t0003g0029	1	338	0.0030	-18	c.117 others(39): Show c.1170-11434_1170-11417delAACAAATTACTACAAACT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44132347	GACAGACA others(11): Show GACAGACAGACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01071.hp1 others(25): Show HG00099.hp1 HG00323.hp1 HG01071.hp1 HG01109.hp2 HG01175.hp1 HG01258.hp2 HG01346.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01943.hp2 HG02273.hp2 HG02293.hp2 HG02486.hp2 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG03654.hp1 HG03834.hp1 HG04115.hp1 HG04204.hp1 HG04204.hp2 NA18943.hp1 NA19003.hp2 NA19009.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0018 a0001c0001 a0001c0003 a0008c0018	a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 others(10): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0017 a0001c0001t0020 a0001c0001t0030 a0001c0001t0038 a0001c0001t0097 a0001c0001t0110 a0001c0001t0111 a0001c0003t0051 a0001c0003t0102 a0008c0018t0038	a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0005g0301 others(25): Show a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0005g0309 a0001c0001t0005g0316 a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0005g0330 a0001c0001t0012g0145 a0001c0001t0017g0105 a0001c0001t0017g0117 a0001c0001t0017g0126 a0001c0001t0017g0128 a0001c0001t0020g0162 a0001c0001t0020g0163 a0001c0001t0020g0164 a0001c0001t0030g0244 a0001c0001t0030g0262 a0001c0001t0038g0315 a0001c0001t0097g0263 a0001c0001t0110g0329 a0001c0001t0111g0327 a0001c0003t0051g0005 a0001c0003t0102g0214 a0008c0018t0038g0314	28	338	0.0828	-18	c.117 others(39): Show c.1170-13742_1170-13725delGTGTGTGTGTCTGTCTGT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134163	AAATATTT others(11): Show AAATATTTATTATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG03139.hp2 others(2): Show HG02145.hp2 HG02970.hp2 HG03139.hp2 HG03579.hp2 NA19043.hp2	a0003 a0003	a0003c0008 a0003c0019 a0003c0008 a0003c0019	a0003c0008t0034 a0003c0008t0112 a0003c0019t0068 a0003c0008t0034 a0003c0008t0112 a0003c0019t0068	a0003c0008t0034g0332 a0003c0008t0034g0334 a0003c0008t0034g0335 others(2): Show a0003c0008t0034g0332 a0003c0008t0034g0334 a0003c0008t0034g0335 a0003c0008t0112g0333 a0003c0019t0068g0137	5	338	0.0148	-18	c.117 others(39): Show c.1170-15558_1170-15541delATATTTATAATAAATATT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44162745	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0307 a0001c0001t0007g0307	1	338	0.0030	-18	c.380 others(35): Show c.380-2356_380-2339delATATATATATATATATAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	1/5			chr20	TogoVar
JPH3_chr16_87597508_87703156	87604287	CCTGCTGC others(11): Show CCTGCTGCTGCTGCTGCTG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02818.hp1 HG02055.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0009t0001 a0001c0003t0001 a0001c0009t0001	a0001c0003t0001g0372 a0001c0009t0001g0371 a0001c0003t0001g0372 a0001c0009t0001g0371	2	380	0.0053	-18	c.382 others(33): Show c.382+784_382+801delCTGCTGCTGCTGCTGCTG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87620447	AGAGAGAA others(11): Show AGAGAGAAGGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02970.hp2 HG03139.hp2 others(2): Show HG02922.hp1 HG02970.hp2 HG03139.hp2 HG03225.hp2 NA19000.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0009 others(1): Show a0001c0001 a0001c0004 a0001c0009 a0003c0018	a0001c0001t0028 a0001c0004t0001 a0001c0009t0001 others(1): Show a0001c0001t0028 a0001c0004t0001 a0001c0009t0001 a0003c0018t0001	a0001c0001t0028g0024 a0001c0004t0001g0308 a0001c0009t0001g0237 others(2): Show a0001c0001t0028g0024 a0001c0004t0001g0308 a0001c0009t0001g0237 a0003c0018t0001g0236 a0003c0018t0001g0318	5	380	0.0132	-18	c.382 others(37): Show c.382+16934_382+16951delGAGGGAGAGAAGGAGAGA	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87677209	CACACACA others(11): Show CACACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0253 a0001c0003t0001g0253	1	380	0.0026	-18	c.116 others(37): Show c.1161-6931_1161-6914delCACACACACACACACAAA	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPT1_chr17_75130248_75159512	75142616	AGGAGGGG others(11): Show AGGAGGGGAGGGAGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	388	0.0026	-18	c.316 others(35): Show c.316+4032_316+4049delCTCCCCTCCCTCCCCTCC	JPT1	ENSG00000189159.16	transcript	ENST00000409753.8	protein_coding	4/4			chr17	TogoVar
JSRP1_chr19_2247252_2261417	2250000	ACGACGCA others(11): Show ACGACGCAGGGCTCGGGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18961.hp2 NA18967.hp1 others(2): Show NA18953.hp1 NA18961.hp2 NA18967.hp1 NA18971.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0058 a0001c0001t0002g0005 a0001c0001t0001g0001 a0001c0001t0001g0058 a0001c0001t0002g0005	5	436	0.0115	-18	c.23 others(29): Show c.2311_*2328delGCCCCGAGCCCTGCGTCG	JSRP1	ENSG00000167476.10	transcript	ENST00000300961.10	protein_coding		2251		chr19	TogoVar
JUP_chr17_41749609_41791711	41762160	AGAGAGAG others(11): Show AGAGAGAGAGAGAGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp1 others(36): Show HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00609.hp1 HG00673.hp2 HG01099.hp1 HG01168.hp1 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02135.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02698.hp1 HG02965.hp1 HG03017.hp2 HG03225.hp1 HG03453.hp1 HG03688.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp1 NA18947.hp2 NA18977.hp1 NA19000.hp2 NA19005.hp1 NA19009.hp2 NA19043.hp2 NA19055.hp2 NA19066.hp2 NA19077.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0001c0007 others(2): Show a0001c0001 a0001c0005 a0001c0007 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 a0001c0007t0001 a0001c0007t0003 a0002c0003t0002 a0002c0003t0003 a0002c0003t0011 a0002c0003t0022 a0003c0006t0001	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0199 others(35): Show a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0261 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0328 a0001c0001t0001g0375 a0001c0001t0003g0008 a0001c0001t0003g0080 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0111 a0001c0001t0003g0121 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0131 a0001c0005t0001g0169 a0001c0005t0001g0289 a0001c0007t0001g0268 a0001c0007t0003g0151 a0001c0007t0003g0152 a0002c0003t0002g0201 a0002c0003t0003g0150 a0002c0003t0011g0019 a0002c0003t0022g0254 a0003c0006t0001g0325 a0003c0006t0001g0326	39	410	0.0951	-18	c.149 others(35): Show c.1497+805_1497+822delACTCTCTCTCTCTCTCTC	JUP	ENSG00000173801.17	transcript	ENST00000393931.8	protein_coding	8/13			chr17	TogoVar
JUP_chr17_41749609_41791711	41762162	AGAGAGAG others(11): Show AGAGAGAGAGAGAGAGTGT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02040.hp1 HG02056.hp1 others(13): Show HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02129.hp1 HG02486.hp1 HG03516.hp1 HG03579.hp1 HG06807.hp1 NA18943.hp2 NA18964.hp1 NA18966.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp1 NA19083.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 a0002c0002t0002 a0002c0003t0002 a0002c0003t0004	a0001c0001t0001g0212 a0001c0001t0001g0271 a0001c0001t0003g0085 others(12): Show a0001c0001t0001g0212 a0001c0001t0001g0271 a0001c0001t0003g0085 a0001c0005t0001g0016 a0001c0005t0001g0335 a0002c0002t0002g0218 a0002c0003t0002g0307 a0002c0003t0002g0309 a0002c0003t0002g0336 a0002c0003t0002g0339 a0002c0003t0002g0345 a0002c0003t0002g0346 a0002c0003t0002g0374 a0002c0003t0004g0094 a0002c0003t0004g0103	16	410	0.0390	-18	c.149 others(35): Show c.1497+803_1497+820delACACTCTCTCTCTCTCTC	JUP	ENSG00000173801.17	transcript	ENST00000393931.8	protein_coding	8/13			chr17	TogoVar
JUP_chr17_41749609_41791711	41762164	AGAGAGAG others(11): Show AGAGAGAGAGAGAGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp2 HG02148.hp2 others(6): Show HG00733.hp2 HG00741.hp2 HG02148.hp2 HG02280.hp1 HG02922.hp1 HG03139.hp1 HG03688.hp2 HG04199.hp2 NA19075.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0010 others(1): Show a0001c0001 a0001c0004 a0001c0010 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 a0001c0010t0003 a0002c0003t0024	a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0359 others(6): Show a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0359 a0001c0001t0001g0369 a0001c0001t0003g0128 a0001c0004t0003g0091 a0001c0010t0003g0112 a0001c0010t0003g0113 a0002c0003t0024g0389	9	410	0.0220	-18	c.149 others(35): Show c.1497+801_1497+818delACACACTCTCTCTCTCTC	JUP	ENSG00000173801.17	transcript	ENST00000393931.8	protein_coding	8/13			chr17	TogoVar
KALRN_chr3_124028369_124731325	124069311	TAGGAGGA others(11): Show TAGGAGGAGGAGGAGGAGG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0009 a0001c0047t0009	a0001c0047t0009g0092 a0001c0047t0009g0092	1	116	0.0086	-18	c.73+ others(35): Show c.73+35542_73+35559delGGAGGAGGAGGAGGAGGA	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124144601	TCTCCTCC others(11): Show TCTCCTCCTCTTCCTCATC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00642.hp2 others(29): Show HG00323.hp1 HG00438.hp2 HG00642.hp2 HG01071.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01258.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG02071.hp1 HG02071.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02559.hp1 HG02647.hp1 HG02965.hp2 HG03139.hp2 HG03453.hp1 NA18945.hp1 NA18947.hp1 NA18955.hp2 NA18964.hp1 NA18983.hp1 NA18995.hp2 NA19002.hp2 NA19010.hp1 NA19077.hp2 NA19240.hp2 NA20752.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0006 others(21): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0022 a0001c0032 a0001c0049 a0001c0051 a0001c0054 a0001c0066 a0001c0068 a0001c0072 a0001c0073 a0001c0074 a0003c0076 a0004c0013 a0005c0077	a0001c0001t0003 a0001c0002t0017 a0001c0002t0024 others(25): Show a0001c0001t0003 a0001c0002t0017 a0001c0002t0024 a0001c0006t0001 a0001c0008t0002 a0001c0009t0001 a0001c0010t0002 a0001c0014t0007 a0001c0015t0001 a0001c0016t0011 a0001c0016t0025 a0001c0017t0021 a0001c0018t0005 a0001c0018t0026 a0001c0022t0001 a0001c0022t0031 a0001c0032t0003 a0001c0049t0001 a0001c0051t0003 a0001c0054t0001 a0001c0066t0001 a0001c0068t0013 a0001c0072t0001 a0001c0073t0006 a0001c0074t0002 a0003c0076t0001 a0004c0013t0002 a0005c0077t0001	a0001c0001t0003g0112 a0001c0002t0017g0053 a0001c0002t0024g0006 others(29): Show a0001c0001t0003g0112 a0001c0002t0017g0053 a0001c0002t0024g0006 a0001c0006t0001g0069 a0001c0008t0002g0071 a0001c0009t0001g0065 a0001c0009t0001g0070 a0001c0009t0001g0072 a0001c0010t0002g0067 a0001c0014t0007g0115 a0001c0014t0007g0116 a0001c0015t0001g0097 a0001c0016t0011g0064 a0001c0016t0025g0004 a0001c0017t0021g0089 a0001c0018t0005g0009 a0001c0018t0026g0073 a0001c0022t0001g0008 a0001c0022t0031g0062 a0001c0032t0003g0090 a0001c0049t0001g0003 a0001c0051t0003g0005 a0001c0054t0001g0057 a0001c0066t0001g0055 a0001c0068t0013g0063 a0001c0072t0001g0060 a0001c0073t0006g0096 a0001c0074t0002g0047 a0003c0076t0001g0068 a0004c0013t0002g0001 a0004c0013t0002g0002 a0005c0077t0001g0061	32	116	0.2759	-18	c.74- others(35): Show c.74-83349_74-83332delCTCCTCTTCCTCATCCTC	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124170831	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0005 a0001c0037t0005	a0001c0037t0005g0059 a0001c0037t0005g0059	1	116	0.0086	-18	c.74- others(35): Show c.74-57137_74-57120delTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124227663	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01123.hp2 HG01168.hp2 others(15): Show HG00642.hp1 HG01123.hp2 HG01168.hp2 HG01258.hp1 HG02273.hp2 HG02486.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp2 HG03209.hp2 HG03540.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18964.hp2 NA18995.hp1 NA20752.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0006 others(13): Show a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0015 a0001c0017 a0001c0044 a0001c0054 a0001c0055 a0001c0056 a0001c0058 a0001c0059 a0001c0062 a0001c0065 a0001c0069 a0003c0057	a0001c0002t0002 a0001c0003t0001 a0001c0003t0029 others(14): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0029 a0001c0006t0001 a0001c0008t0004 a0001c0015t0001 a0001c0017t0021 a0001c0044t0015 a0001c0054t0001 a0001c0055t0001 a0001c0056t0002 a0001c0058t0001 a0001c0059t0014 a0001c0062t0019 a0001c0065t0009 a0001c0069t0022 a0003c0057t0002	a0001c0002t0002g0011 a0001c0003t0001g0041 a0001c0003t0029g0048 others(15): Show a0001c0002t0002g0011 a0001c0003t0001g0041 a0001c0003t0029g0048 a0001c0006t0001g0025 a0001c0008t0004g0021 a0001c0008t0004g0022 a0001c0015t0001g0046 a0001c0017t0021g0089 a0001c0044t0015g0080 a0001c0054t0001g0057 a0001c0055t0001g0031 a0001c0056t0002g0014 a0001c0058t0001g0016 a0001c0059t0014g0076 a0001c0062t0019g0074 a0001c0065t0009g0093 a0001c0069t0022g0102 a0003c0057t0002g0015	18	116	0.1552	-18	c.74- others(31): Show c.74-302_74-285delTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124287770	GATATATA others(11): Show GATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01074.hp2 others(2): Show HG00323.hp1 HG00642.hp1 HG01074.hp2 HG02615.hp2 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0007 a0001c0016 others(2): Show a0001c0003 a0001c0007 a0001c0016 a0001c0056 a0002c0064	a0001c0003t0029 a0001c0007t0002 a0001c0016t0025 others(2): Show a0001c0003t0029 a0001c0007t0002 a0001c0016t0025 a0001c0056t0002 a0002c0064t0034	a0001c0003t0029g0048 a0001c0007t0002g0051 a0001c0016t0025g0004 others(2): Show a0001c0003t0029g0048 a0001c0007t0002g0051 a0001c0016t0025g0004 a0001c0056t0002g0014 a0002c0064t0034g0085	5	116	0.0431	-18	c.970 others(37): Show c.970-10982_970-10965delATATATATATATATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	5/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124618086	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG01074.hp2 others(19): Show HG00323.hp2 HG00642.hp1 HG01074.hp2 HG01168.hp1 HG01175.hp2 HG01243.hp1 HG02055.hp2 HG02109.hp1 HG02165.hp1 HG02165.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG03139.hp1 HG03540.hp2 HG03688.hp1 NA18906.hp2 NA18964.hp2 NA18995.hp1 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0003 a0001c0007 a0001c0008 others(17): Show a0001c0003 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0019 a0001c0029 a0001c0039 a0001c0040 a0001c0043 a0001c0046 a0001c0047 a0001c0050 a0001c0051 a0001c0056 a0001c0069 a0002c0064 a0003c0028 a0003c0057 a0007c0052	a0001c0003t0001 a0001c0003t0029 a0001c0007t0002 others(19): Show a0001c0003t0001 a0001c0003t0029 a0001c0007t0002 a0001c0008t0002 a0001c0010t0002 a0001c0011t0001 a0001c0019t0001 a0001c0019t0004 a0001c0029t0020 a0001c0039t0001 a0001c0040t0032 a0001c0043t0006 a0001c0046t0002 a0001c0047t0009 a0001c0050t0005 a0001c0051t0003 a0001c0056t0002 a0001c0069t0022 a0002c0064t0034 a0003c0028t0001 a0003c0057t0002 a0007c0052t0008	a0001c0003t0001g0045 a0001c0003t0029g0048 a0001c0007t0002g0051 others(19): Show a0001c0003t0001g0045 a0001c0003t0029g0048 a0001c0007t0002g0051 a0001c0008t0002g0071 a0001c0010t0002g0050 a0001c0011t0001g0017 a0001c0019t0001g0079 a0001c0019t0004g0104 a0001c0029t0020g0114 a0001c0039t0001g0091 a0001c0040t0032g0100 a0001c0043t0006g0106 a0001c0046t0002g0095 a0001c0047t0009g0092 a0001c0050t0005g0042 a0001c0051t0003g0005 a0001c0056t0002g0014 a0001c0069t0022g0102 a0002c0064t0034g0085 a0003c0028t0001g0033 a0003c0057t0002g0015 a0007c0052t0008g0075	22	116	0.1897	-18	c.518 others(39): Show c.5183-14311_5183-14294delTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	34/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124628491	CCCTTCCC others(11): Show CCCTTCCCTTCCTTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00438.hp2 others(38): Show HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00642.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01258.hp2 HG01515.hp1 HG01517.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02559.hp1 HG02615.hp2 HG03139.hp1 HG03209.hp1 HG03688.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp2 NA18947.hp2 NA18955.hp2 NA18964.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA19002.hp1 NA19004.hp2 NA19010.hp2 NA19030.hp1 NA19077.hp2 NA20300.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0002 a0001c0004 a0001c0005 others(30): Show a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0010 a0001c0016 a0001c0018 a0001c0019 a0001c0022 a0001c0025 a0001c0030 a0001c0035 a0001c0038 a0001c0039 a0001c0041 a0001c0046 a0001c0047 a0001c0049 a0001c0056 a0001c0058 a0001c0063 a0001c0066 a0001c0067 a0001c0069 a0001c0072 a0001c0073 a0001c0075 a0002c0064 a0003c0028 a0003c0057 a0004c0013 a0005c0077 a0008c0048	a0001c0002t0002 a0001c0002t0024 a0001c0004t0030 others(33): Show a0001c0002t0002 a0001c0002t0024 a0001c0004t0030 a0001c0005t0001 a0001c0008t0002 a0001c0010t0002 a0001c0016t0011 a0001c0016t0025 a0001c0018t0026 a0001c0019t0001 a0001c0022t0001 a0001c0025t0001 a0001c0025t0002 a0001c0030t0002 a0001c0035t0002 a0001c0038t0002 a0001c0039t0001 a0001c0041t0012 a0001c0046t0002 a0001c0047t0009 a0001c0049t0001 a0001c0056t0002 a0001c0058t0001 a0001c0063t0003 a0001c0066t0001 a0001c0067t0016 a0001c0069t0022 a0001c0072t0001 a0001c0073t0006 a0001c0075t0003 a0002c0064t0034 a0003c0028t0001 a0003c0057t0002 a0004c0013t0002 a0005c0077t0001 a0008c0048t0003	a0001c0002t0002g0011 a0001c0002t0024g0006 a0001c0004t0030g0052 others(38): Show a0001c0002t0002g0011 a0001c0002t0024g0006 a0001c0004t0030g0052 a0001c0005t0001g0023 a0001c0005t0001g0034 a0001c0005t0001g0035 a0001c0008t0002g0071 a0001c0010t0002g0012 a0001c0010t0002g0050 a0001c0010t0002g0067 a0001c0016t0011g0064 a0001c0016t0025g0004 a0001c0018t0026g0073 a0001c0019t0001g0079 a0001c0022t0001g0008 a0001c0025t0001g0044 a0001c0025t0002g0027 a0001c0030t0002g0109 a0001c0035t0002g0066 a0001c0038t0002g0028 a0001c0039t0001g0091 a0001c0041t0012g0105 a0001c0046t0002g0095 a0001c0047t0009g0092 a0001c0049t0001g0003 a0001c0056t0002g0014 a0001c0058t0001g0016 a0001c0063t0003g0088 a0001c0066t0001g0055 a0001c0067t0016g0103 a0001c0069t0022g0102 a0001c0072t0001g0060 a0001c0073t0006g0096 a0001c0075t0003g0024 a0002c0064t0034g0085 a0003c0028t0001g0033 a0003c0057t0002g0015 a0004c0013t0002g0001 a0004c0013t0002g0002 a0005c0077t0001g0061 a0008c0048t0003g0007	41	116	0.3535	-18	c.518 others(37): Show c.5183-3915_5183-3898delCCCTTCCTTCCCTTCCTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	34/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124649965	AAATAATA others(11): Show AAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01175.hp2 HG01258.hp2 HG00642.hp2 HG01175.hp2 HG01258.hp2	a0001 a0001	a0001c0010 a0001c0049 a0001c0073 a0001c0010 a0001c0049 a0001c0073	a0001c0010t0002 a0001c0049t0001 a0001c0073t0006 a0001c0010t0002 a0001c0049t0001 a0001c0073t0006	a0001c0010t0002g0050 a0001c0049t0001g0003 a0001c0073t0006g0096 a0001c0010t0002g0050 a0001c0049t0001g0003 a0001c0073t0006g0096	3	116	0.0259	-18	c.566 others(35): Show c.5665-819_5665-802delTAATAATAATAATAATAA	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	37/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124668043	GACACACA others(11): Show GACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp2 HG01496.hp1 others(9): Show HG01074.hp2 HG01243.hp2 HG01496.hp1 HG02647.hp1 HG02896.hp2 HG03041.hp2 HG03209.hp2 HG03540.hp1 NA18906.hp1 NA18995.hp1 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0044 others(4): Show a0001c0001 a0001c0007 a0001c0044 a0001c0055 a0001c0056 a0001c0063 a0001c0071	a0001c0001t0003 a0001c0001t0033 a0001c0007t0002 others(6): Show a0001c0001t0003 a0001c0001t0033 a0001c0007t0002 a0001c0007t0003 a0001c0044t0015 a0001c0055t0001 a0001c0056t0002 a0001c0063t0003 a0001c0071t0003	a0001c0001t0003g0010 a0001c0001t0003g0029 a0001c0001t0003g0112 others(9): Show a0001c0001t0003g0010 a0001c0001t0003g0029 a0001c0001t0003g0112 a0001c0001t0033g0026 a0001c0007t0002g0019 a0001c0007t0002g0051 a0001c0007t0003g0101 a0001c0044t0015g0080 a0001c0055t0001g0031 a0001c0056t0002g0014 a0001c0063t0003g0088 a0001c0071t0003g0082	12	116	0.1035	-18	c.670 others(35): Show c.6703+894_6703+911delCACACACACACACACACA	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	47/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KANK2_chr19_11159270_11202545	11197607	CCCGCCCC others(11): Show CCCGCCCCCCCAGCCGGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0175 a0001c0002t0010g0175	1	394	0.0025	-18	c.-41 others(27): Show c.-419_-402delTGCCGGCTGGGGGGGCGG	KANK2	ENSG00000197256.11	transcript	ENST00000586659.6	protein_coding		63		chr19	TogoVar
KANK3_chr19_8317584_8348262	8328387	CCACACAC others(11): Show CCACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02145.hp1 HG02280.hp2 others(8): Show HG01981.hp2 HG02145.hp1 HG02280.hp2 HG02622.hp1 HG03017.hp1 HG03209.hp2 HG03239.hp2 HG03491.hp2 HG03704.hp1 HG03834.hp2 NA20905.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0002 a0003c0003t0001 a0004c0004t0002	a0003c0003t0001g0005 a0003c0003t0001g0041 a0003c0003t0001g0043 others(7): Show a0003c0003t0001g0005 a0003c0003t0001g0041 a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0045 a0004c0004t0002g0269 a0004c0004t0002g0270 a0004c0004t0002g0271 a0004c0004t0002g0274 a0004c0004t0002g0275	11	406	0.0271	-18	c.193 others(37): Show c.1937-3309_1937-3292delTGTGTGTGTGTGTGTGTG	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	7/10			chr19	TogoVar
KANK3_chr19_8317584_8348262	8345703	GTGTGTGT others(11): Show GTGTGTGTGTGTATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02976.hp2 NA19240.hp2 HG02723.hp2 HG02976.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0091 a0001c0015t0001g0218 a0001c0015t0001g0219 a0001c0001t0001g0091 a0001c0015t0001g0218 a0001c0015t0001g0219	3	406	0.0074	-18	c.-25 others(29): Show c.-2525_-2508delTATATATACACACACACA	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding		2442		chr19	TogoVar

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