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
EML5_chr14_88607431_88797953	88796219	TATTATAT others(157): Show TATTATATGTTATATATATTATATATATTATATATATATTATATGTTATA TATATTATATATATATTATATGTTATATATATTATATATATATTATATGT TATATATATTATATATATATTATATGTTATATATTTTATATATATATTAT ATGTTATATATATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0188 a0001c0001t0006g0188	1	332	0.0030	-164	c.-38 others(11): Show c.-3880_-3717del	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3267		chr14	TogoVar
ERICH1_chr8_659200_736224	675101	AGTGAGGA others(157): Show AGTGAGGACAGAGACGTGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGG CCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCG GCGCCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAG ACGCGGCGGCCCCTC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01192.hp1 HG01261.hp1 others(1): Show HG01175.hp1 HG01192.hp1 HG01261.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0156 a0001c0002t0001g0014 a0001c0002t0001g0111 others(1): Show a0001c0001t0001g0156 a0001c0002t0001g0014 a0001c0002t0001g0111 a0001c0002t0001g0112	4	378	0.0106	-164	c.305 others(17): Show c.305-1218_305-1055del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675625	TGAGGACA others(157): Show TGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGC GGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGGCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	378	0.0027	-164	c.305 others(17): Show c.305-1742_305-1579del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675980	TGAGGACA others(157): Show TGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGCCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0237 a0002c0005t0001g0237	1	378	0.0027	-164	c.305 others(17): Show c.305-2097_305-1934del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	676228	CGAGGACA others(157): Show CGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGC GGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGAC GCGGCGGCCCCTCGT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	378	0.0027	-164	c.305 others(17): Show c.305-2345_305-2182del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERO1B_chr1_236210101_236286958	236245362	ATATATAC others(157): Show ATATATACGTATATATATACACACGTATATATATACGTATATATATACAC ACGTATATATATACGTATATATATACACACGTATATATATACGTATATAT ATACACACGTATATATATACGTATATATATACACGTATATATATATGTGT GTATGTATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02723.hp1 HG03098.hp1 others(1): Show HG02280.hp2 HG02723.hp1 HG03098.hp1 HG03195.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0013 a0003c0004t0042 a0003c0004t0013 a0003c0004t0042	a0003c0004t0013g0118 a0003c0004t0013g0125 a0003c0004t0013g0198 others(1): Show a0003c0004t0013g0118 a0003c0004t0013g0125 a0003c0004t0013g0198 a0003c0004t0042g0126	4	396	0.0101	-164	c.432 others(17): Show c.432-2031_432-1868del	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
FAAP24_chr19_32967242_32983229	32978939	GGATTTCG others(157): Show GGATTTCGAAACCCGCCTGGCCAACATGGTGAAACCTCACCTCAACTAAA AATACAAAAATCAGCCAGGCATGCTGGAGGGCACCTTGTAGTCCCAGCTA TTTGGGAGGCTGAGGTAGGAGAATCGCTTGATCCCAGGGGGCGGAGGTTG CACTGAGCTGAGATC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0025 a0001c0003t0002g0025	1	452	0.0022	-164	c.22 others(11): Show c.2258_*2421del	FAAP24	ENSG00000131944.11	transcript	ENST00000588258.6	protein_coding		711		chr19	TogoVar
FAM118A_chr22_45304934_45346955	45328087	CCTTTGGC others(157): Show CCTTTGGCCGGCGGCAGAACAAGCCCATGGAGTCCCTGGACTTGAAGGAC AAGACCAAGGTATGGGCTGGGGGTGCGGGAGGTCTTTGGCCGGCGGCAGA ACAAGCCCATGGAGTCCCTGGACTTGAAGGACAAGACCAAGGTATGGGCT GGGGGTGCGGGAGGT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0229 a0002c0003t0003g0229	1	416	0.0024	-164	c.522 others(15): Show c.522+106_522+269del	FAM118A	ENSG00000100376.12	transcript	ENST00000441876.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
FAM118A_chr22_45304934_45346955	45328230	ATGGGCTG others(157): Show ATGGGCTGGGGGTGCGGGAGGTCTTTGGCCGGCGGCAGAACAAGCCCATG GAGTCCCTGGACTTGAAGGACAAGACCAAGGTATGGGCTGGGGGTGCGGG AGGCCTTTGGCCGGCGGCAGAACAAGCCCATGGAGTCCCTGGACTTGAAG GACAAGACCAAGGTG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0202 a0002c0003t0014g0202	1	416	0.0024	-164	c.522 others(15): Show c.522+178_522+341del	FAM118A	ENSG00000100376.12	transcript	ENST00000441876.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
FMO2_chr1_171180300_171217686	171210717	TGTACTTC others(157): Show TGTACTTCTCCCTCAGGGACGTAGAACAATGGAATGTCAGTCAGTCTCTG TAGTTAAAACTTTTTCTTTAAAATTCAATTAAGGTACTTCTCCCTCAGGG ACGTAGAACAATGGAATGTCAGTCAGTCTCTGTAGTTAAAACTTTTTCTT TAAAATTCAATTAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18978.hp2 NA18989.hp2 NA18999.hp1 others(1): Show NA18978.hp2 NA18989.hp2 NA18999.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0010 a0001c0001t0013g0050 a0001c0001t0013g0065 a0001c0001t0013g0010 a0001c0001t0013g0050 a0001c0001t0013g0065	4	366	0.0109	-164	c.16 others(11): Show c.1655_*1818del	FMO2	ENSG00000094963.14	transcript	ENST00000209929.10	protein_coding	9/9	1655	INFO_REALIGN_3_PRIME	chr1	TogoVar
GAK_chr4_844277_937316	904304	ACGACCTT others(157): Show ACGACCTTGTGGTCCCTGTGGATGATGGGCGGCTCCTAACCGAGCGGGAC CCGCACACAGAGGCCTTGGCAGCCGCGTGTGGAGGGAGCCACTACCTTGA GGTCCCTGTGGATGATGGGCGGCTCCTAACCGAGCGGGACCCGCACACAG AGGCCTCAGCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG02809.hp1 others(1): Show HG01891.hp2 HG02572.hp1 HG02809.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0001 a0001c0021t0001 a0001c0001t0001 a0001c0021t0001	a0001c0001t0001g0286 a0001c0001t0001g0295 a0001c0001t0001g0314 others(1): Show a0001c0001t0001g0286 a0001c0001t0001g0295 a0001c0001t0001g0314 a0001c0021t0001g0292	4	390	0.0103	-164	c.525 others(15): Show c.525+169_525+332del	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	5/27			chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241807767	ACCTTCCC others(157): Show ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	314	0.0032	-164	c.36 others(11): Show c.3602_*3765del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3481		chr2	TogoVar
GALNT17_chr7_71127144_71718599	71288007	ACACCACT others(157): Show ACACCACTTCACTCCAGACTGGTGACAGAGCGAGACTGTCTCAAAAAAAA AAAAAAAAAATTAGCTGGGCATGGTGGCACACACCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGTGGGGTGGAGGTTGC AGTGAGCCAAGATTG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	76	0.0132	-164	c.239 others(19): Show c.239-47535_239-47372del	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLDC_chr9_6527467_6650729	6622877	AGCGCCTC others(157): Show AGCGCCTCTGCCCCGCCGCCCGGTCTGGGATGTGAGGAGCACCTCTGCCT GGCCGCGACCCCGTCTGGGAGGTGAGGAACGTCTCCGCCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCTGCCCGGCCAGCCGCCCTG TCTGGGAGGTGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0006 a0001c0037t0006	a0001c0037t0006g0277 a0001c0037t0006g0277	1	342	0.0029	-164	c.335 others(17): Show c.335-2722_335-2559del	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GRIK4_chr11_120506748_120993906	120865039	TTCCAATT others(157): Show TTCCAATTCACAATCATTCACTAAGTTAATATAACAACCTATATATGCCA GATGCTGGAATAGGCATTACTAAATATATCAGGTAGCTTTTGCTACATAA ATACTGTGTAACAGCCAACTCCTAAATCTCATGATACACAATAAATATGC ATATACGATTCTATC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18960.hp2 NA19011.hp1 HG02040.hp1 NA18960.hp2 NA19011.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0003 a0001c0003t0004 a0001c0005t0001 a0001c0003t0003 a0001c0003t0004 a0001c0005t0001	a0001c0003t0003g0026 a0001c0003t0004g0034 a0001c0005t0001g0030 a0001c0003t0003g0026 a0001c0003t0004g0034 a0001c0005t0001g0030	3	128	0.0234	-164	c.906 others(17): Show c.906+2988_906+3151del	GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRK5_chr10_119202571_119464745	119394632	TGTGTGTG others(157): Show TGTGTGTGGGTGTGTGTGTGGGTGTGTGTATCTGTGTCTGTGGGCACGTG TGTGTGGGTGTGTGTGGGTGTGTATCTGTGTGTGTGGGGGCACGTGTATG TTTGGGTGTGTGTGTGTCTGTGTGTGGGTGTGTATCTGTGTGTGTGTGGG CACGTGTATGTTTGG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02965.hp1 HG01109.hp2 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0049 a0002c0003t0050 a0001c0001t0049 a0002c0003t0050	a0001c0001t0049g0103 a0002c0003t0050g0108 a0001c0001t0049g0103 a0002c0003t0050g0108	2	202	0.0099	-164	c.262 others(17): Show c.262-2007_262-1844del	GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
GYG2_chrX_2823930_2887818	2845015	ATGTGTAT others(157): Show ATGTGTATGTATATTTATATACACATGTGTATGTATATATACACGTGTGT ATGTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTAT GTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGT ATATTTATATACACG	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG03017.hp1 HG03942.hp1 others(2): Show HG02293.hp1 HG03017.hp1 HG03942.hp1 NA18975.hp1 NA18982.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0018 a0001c0001 a0012c0018	a0001c0001t0002 a0012c0018t0001 a0001c0001t0002 a0012c0018t0001	a0001c0001t0002g0085 a0001c0001t0002g0096 a0001c0001t0002g0190 others(2): Show a0001c0001t0002g0085 a0001c0001t0002g0096 a0001c0001t0002g0190 a0001c0001t0002g0288 a0012c0018t0001g0099	5	316	0.0158	-164	c.149 others(17): Show c.149+1685_149+1848del	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
HCN2_chr19_584881_622159	604082	GCAGGGGT others(157): Show GCAGGGGTGGGGCTATGAGAGATCTGGGTGGGGTCAAGGCCCCAGGGGTG GGGCTATGGGAGATCTGGGTGGGGTCAAGGCCCCAGGGATGGGGCTATGA GAGATCTGAGTGGGGTCAAGGCCCCAGGGATGGGGCTATGAGAGATCTGG GTGGGGTCAAGGCCC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0091 a0001c0091	a0001c0091t0011 a0001c0091t0011	a0001c0091t0011g0380 a0001c0091t0011g0380	1	408	0.0025	-164	c.105 others(17): Show c.1056+132_1056+295del	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HDHD5_chr22_17132520_17164277	17144387	CTATAGGC others(157): Show CTATAGGCATGCGCCACCATATGTGGCTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATGTCAGCT CACTGCAACCTCTGCCTCCCAGGTTCAAGTTATTCTCCTGCCTCTGCCTC CCGAGTAGCTGGGAT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0278 a0002c0003t0001g0278	1	422	0.0024	-164	c.537 others(15): Show c.537+473_537+636del	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	4/7			chr22	TogoVar
IL12RB2_chr1_67302873_67403724	67342788	GTCATTCT others(157): Show GTCATTCTGTCCCCCAGGCTGAAGTGTGGTGGCACAATCTCAGCTCACTG CAGCCTTCACCTCCTATGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAG TAGCTGAGACTACAGGCATCCATCACCACGCCCAGCTAATTTTTGTTTGT CACAGAGACAGGGTC	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0114 a0001c0023t0001g0114	1	346	0.0029	-164	c.103 others(19): Show c.1038+4150_1038+4313del	IL12RB2	ENSG00000081985.14	transcript	ENST00000674203.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL12RB2_chr1_67302873_67403724	67342853	ATGCTCAA others(157): Show ATGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGAGACTACAG GCATCCATCACCACGCCCAGCTAATTTTTGTTTGTCACAGAGACAGGGTC TCATTCTGTCCCCCAGGCTGAAGTGTGGTGGCACAATCTCAGCTCACTGC AGCCTTCACCTCCTG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0002 a0011c0018t0002	a0011c0018t0002g0241 a0011c0018t0002g0241	1	346	0.0029	-164	c.103 others(19): Show c.1038+4395_1038+4558del	IL12RB2	ENSG00000081985.14	transcript	ENST00000674203.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
INO80D_chr2_205988721_206091174	205988754	TAAAATAA others(157): Show TAAAATAAAATAAATAAAATAAAATAAAATAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAATAAAATAAATAAAATAAAATAAAT AAAATAAATAAAATAAATAAAATAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0322 a0001c0001t0016g0323 a0001c0001t0016g0322 a0001c0001t0016g0323	2	334	0.0060	-164	c.15 others(13): Show c.15450_*15613del	INO80D	ENSG00000114933.16	transcript	ENST00000403263.6	protein_coding		4966		chr2	TogoVar
INSR_chr19_7107265_7299414	7246858	TTGTATGT others(157): Show TTGTATGTTTCAGGGTGGTTTGTTACACAGCAAAAGCTAGCTGATACAAG CTCCATGAATGAACTTGGATACAAGTTCCTAGTTCTATGTTTCAGAGTGG TTTGCTACACAGGAAAAGCTAGCTGATACAAGCTCCATGATTAAACTTGA ATATAAATTCCAAGG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00673.hp1 others(54): Show HG00544.hp2 HG00558.hp2 HG00673.hp1 HG01074.hp2 HG01109.hp2 HG01169.hp2 HG01884.hp1 HG01884.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18993.hp1 NA18998.hp1 NA19004.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19079.hp1 NA19081.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(24): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0018 a0001c0019 a0001c0023 a0001c0025 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0040 a0001c0041 a0001c0048 a0001c0050 a0001c0056 a0001c0058 a0001c0059 a0001c0060	a0001c0001t0002 a0001c0001t0029 a0001c0001t0091 others(50): Show a0001c0001t0002 a0001c0001t0029 a0001c0001t0091 a0001c0002t0001 a0001c0002t0008 a0001c0002t0009 a0001c0002t0016 a0001c0002t0026 a0001c0002t0028 a0001c0002t0153 a0001c0002t0170 a0001c0003t0005 a0001c0003t0006 a0001c0003t0060 a0001c0003t0073 a0001c0005t0028 a0001c0005t0121 a0001c0006t0002 a0001c0006t0065 a0001c0006t0075 a0001c0007t0040 a0001c0008t0012 a0001c0008t0027 a0001c0009t0003 a0001c0009t0004 a0001c0009t0012 a0001c0011t0001 a0001c0011t0008 a0001c0011t0102 a0001c0012t0076 a0001c0012t0077 a0001c0012t0105 a0001c0012t0141 a0001c0013t0035 a0001c0013t0125 a0001c0018t0072 a0001c0019t0008 a0001c0023t0062 a0001c0025t0002 a0001c0027t0053 a0001c0028t0082 a0001c0028t0164 a0001c0029t0004 a0001c0029t0165 a0001c0030t0089 a0001c0040t0129 a0001c0041t0007 a0001c0048t0084 a0001c0050t0026 a0001c0056t0021 a0001c0058t0123 a0001c0059t0013 a0001c0060t0048	a0001c0001t0002g0016 a0001c0001t0002g0064 a0001c0001t0002g0067 others(54): Show a0001c0001t0002g0016 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0029g0256 a0001c0001t0091g0143 a0001c0002t0001g0132 a0001c0002t0008g0193 a0001c0002t0009g0101 a0001c0002t0016g0105 a0001c0002t0026g0081 a0001c0002t0028g0240 a0001c0002t0153g0102 a0001c0002t0170g0295 a0001c0003t0005g0277 a0001c0003t0006g0061 a0001c0003t0060g0029 a0001c0003t0073g0083 a0001c0005t0028g0116 a0001c0005t0121g0097 a0001c0006t0002g0041 a0001c0006t0065g0011 a0001c0006t0075g0084 a0001c0007t0040g0020 a0001c0008t0012g0078 a0001c0008t0027g0085 a0001c0008t0027g0086 a0001c0009t0003g0258 a0001c0009t0004g0191 a0001c0009t0012g0042 a0001c0011t0001g0216 a0001c0011t0001g0217 a0001c0011t0008g0133 a0001c0011t0102g0099 a0001c0012t0076g0087 a0001c0012t0077g0088 a0001c0012t0105g0184 a0001c0012t0141g0096 a0001c0013t0035g0190 a0001c0013t0125g0192 a0001c0018t0072g0079 a0001c0019t0008g0278 a0001c0023t0062g0019 a0001c0025t0002g0024 a0001c0027t0053g0044 a0001c0028t0082g0115 a0001c0028t0164g0294 a0001c0029t0004g0185 a0001c0029t0165g0297 a0001c0030t0089g0112 a0001c0040t0129g0204 a0001c0041t0007g0266 a0001c0048t0084g0158 a0001c0050t0026g0080 a0001c0056t0021g0077 a0001c0058t0123g0114 a0001c0059t0013g0187 a0001c0060t0048g0043	57	300	0.1900	-164	c.652 others(19): Show c.652+20323_652+20486del	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
IPCEF1_chr6_154149496_154361803	154357675	ATTATATA others(157): Show ATTATATATATATTATATATAATATATATATTATATATATATTATATATA TAATATATATATTATATATATTATATATATATAATATATAAAATATATAT ATTATATATATAAAATATATATAATATATATAATATATATATAAAATATA TATAATATATATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 homoSapiens_chm13v2.hp1 HG01175.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0012 a0001c0001t0004g0007 a0001c0001t0003g0012 a0001c0001t0004g0007	2	264	0.0076	-164	c.-12 others(11): Show c.-1229_-1066del	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		873		chr6	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406007	CAGTCTTC others(157): Show CAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACA TCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCT GTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGG ACCTCTGTGACATCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0071 a0001c0001t0098g0071	1	276	0.0036	-164	c.66 others(9): Show c.663_*826del	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	663		chr2	TogoVar
JAKMIP1_chr4_6021199_6205549	6055882	AGTGTCCC others(157): Show AGTGTCCCCAGAGGACAGGGCTGCCCTCCCCATTTCTGCAGAGTGTCCCC AGAGGTCGGGGCAGCTCTCCCAATTTCTGCAGTGTGTCCCCAGAGGACAG GCCAGCCCTCCCCATCTCTGCAGGGTATCCCCAGAGGTCGGGGCAGCCCT CCTCATTTCTGCAGG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0060 a0001c0012t0001g0060	1	233	0.0043	-164	c.170 others(17): Show c.1707+651_1707+814del	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	12/20			chr4	TogoVar
LAT2_chr7_74205006_74234834	74214458	AAATATAT others(157): Show AAATATATATATAAATATATATATATGAAAATATATATATAAATATATAT ATATGAAAATATATATAAATATATATATGAATATATATATATATATATGA AAATATATATATATGAAAATATATATATAAATATATATATGAAAATATAT ATAAATATATATATG	A A	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	344	0.0029	-164	c.-21 others(17): Show c.-218-351_-218-188del	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LGALS3BP_chr17_78966255_78984923	78983248	AAAAAAAG others(157): Show AAAAAAAGAAAAGAAACTGTTTTCCAAAGTTGCTGAAACATTTTGCATTC TTGCTAGTAATTTCTTCATGTTCCAGTGGTTTAAATCGTCACCAATACTT GGTATTGTCAGTCTTTAAATTTCATCCATTCTGGTGGGCATGTAGTGAAG TTTCATTGTGGTTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	456	0.0022	-164	c.-36 others(11): Show c.-3612_-3449del	LGALS3BP	ENSG00000108679.13	transcript	ENST00000262776.8	protein_coding		3326		chr17	TogoVar
LPCAT1_chr5_1456427_1528960	1458926	GAGCATGT others(157): Show GAGCATGTGTGTACATATGTAAGCCTCAGCATGAGTGCATGTGAGCATGT GTACATGTGTAAGCCTCAGCATGAGTGCATGTGAGCCTCAGCGTGAGTGC ATGTGAGCGTGTGTACATGTGTAAGCCTCAGCATGAGTGCATGTGAGCAT GTGTGTACATGTGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 NA18522.hp1 HG02559.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0080 a0001c0001t0007g0261 a0001c0001t0007g0080 a0001c0001t0007g0261	2	386	0.0052	-164	c.45 others(11): Show c.4561_*4724del	LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding		2500		chr5	TogoVar
LYPD5_chr19_43790927_43807447	43796944	AGTCTCTG others(157): Show AGTCTCTGCAGGCTGAATGGTGGAGCTGGGATTTGAACCCATGCAGCTTA GCTCCAGAGCCTGGCTTAAGTAACTCACCCATGGTCTCTGTAGGCTGAAT GCTGGAGCTGGGATTTGAACCCATGCAGCTTAGCTCCAGAGCCTGGCTTA AGTAACTCGCTCATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0063 a0001c0002t0024g0063	1	428	0.0023	-164	c.48 others(9): Show c.483_*646del	LYPD5	ENSG00000159871.15	transcript	ENST00000377950.8	protein_coding	5/5	483		chr19	TogoVar
MCF2L_chr13_112964214_113104742	113012432	GGTGGACA others(157): Show GGTGGACACTGCAGTGCGGATGGTGGACAGGTGGTGTGGATGGTGGACAG GCGGTGTGGACGGTGGACAGGCTGGGTGGATGGTGGACACTGCAATGAGG ACGGTGGACACTGCGATGAGGACAGTGGACAGGTGGTGTGGACGGTGGAC ACTGCAGTGTGGACT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00544.hp2 others(29): Show HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00733.hp2 HG01070.hp2 HG01168.hp2 HG01175.hp2 HG01257.hp2 HG01358.hp1 HG01978.hp1 HG01993.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02293.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02738.hp2 HG03017.hp2 HG03490.hp2 HG03834.hp1 HG04115.hp2 NA18946.hp2 NA18950.hp2 NA19005.hp2 NA19081.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0001c0013 a0001c0016	a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 others(14): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0002t0001 a0001c0002t0016 a0001c0002t0027 a0001c0003t0001 a0001c0003t0002 a0001c0003t0020 a0001c0004t0004 a0001c0004t0005 a0001c0005t0001 a0001c0006t0002 a0001c0012t0031 a0001c0013t0001 a0001c0016t0004	a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0045 others(29): Show a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0087 a0001c0001t0001g0113 a0001c0001t0012g0055 a0001c0001t0017g0059 a0001c0001t0018g0077 a0001c0002t0001g0069 a0001c0002t0016g0054 a0001c0002t0027g0065 a0001c0003t0001g0053 a0001c0003t0002g0019 a0001c0003t0002g0042 a0001c0003t0002g0047 a0001c0003t0002g0064 a0001c0003t0002g0078 a0001c0003t0002g0111 a0001c0003t0020g0089 a0001c0004t0004g0084 a0001c0004t0004g0097 a0001c0004t0005g0095 a0001c0005t0001g0068 a0001c0005t0001g0088 a0001c0006t0002g0110 a0001c0012t0031g0021 a0001c0013t0001g0067 a0001c0016t0004g0085	32	116	0.2759	-164	c.80- others(15): Show c.80-2320_80-2157del	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113012730	AGTGTGGA others(157): Show AGTGTGGACGGTGGACACTGTGATGCGGACGGTGGACAGGCGGTGTGGAC GGTGGACACTGTGATGCGGACGGTGGACAGGCGGTGTGGACGGTGGACAC TGTGATGCGGACGGTGGACAGGCGGTGTGGACGGTGGACACTGAGATGCG GACGGTGGACAGGCG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0032 a0001c0005t0032	a0001c0005t0032g0106 a0001c0005t0032g0106	1	116	0.0086	-164	c.80- others(15): Show c.80-1917_80-1754del	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MGAM_chr7_141990879_142111747	142043417	ATATCTAT others(157): Show ATATCTATATTATATATACATATAATATCTAAATATAATATATATATTAT ATATACATATAATATCTAAATATAATATATATATTATATATACATATAAT ATCTAAATATAATATGAATTATATAGATATATCTAAATATATATATTATA TATACATATGATATC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0018 a0018	a0018c0036 a0018c0036	a0018c0036t0001 a0018c0036t0001	a0018c0036t0001g0056 a0018c0036t0001g0057 a0018c0036t0001g0056 a0018c0036t0001g0057	2	316	0.0063	-164	c.249 others(19): Show c.2498+2574_2498+2737del	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MLPH_chr2_237482251_237560322	237544478	GGTGAGTG others(157): Show GGTGAGTGGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGG GGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATTGTTT ATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCAGTGG TGATTGGGCACTGTA	G G	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	286	0.0035	-164	c.153 others(19): Show c.1539+1832_1540-1952del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRTFA_chr22_40405289_40641719	40539461	TCCCAAGT others(157): Show TCCCAAGTAGCTGGACTACGGGCGCCCACCACCATGCCCGGCTAATTTTT GTGTTTTTTGTTTGAGACAGTCTTTCTCTGTAGCCAGGCTGGAGTGCAGT GGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTC TCCTGCCTCAGCCTC	T T	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	256	0.0039	-164	c.241 others(19): Show c.241+12481_241+12644del	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
NEDD4L_chr18_58039226_58406539	58170520	AGGACAGA others(157): Show AGGACAGAACACTGCTGCCCACCTCATCACCCCAGCCCAAGAGGACAGAA CACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGC CCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGCCTCAT CACCCCAGCCCAAGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp1 HG02647.hp1 others(6): Show HG02258.hp1 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG03579.hp1 NA19005.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0032 a0001c0001t0043 a0001c0001t0045	a0001c0001t0001g0088 a0001c0001t0004g0041 a0001c0001t0009g0003 others(6): Show a0001c0001t0001g0088 a0001c0001t0004g0041 a0001c0001t0009g0003 a0001c0001t0013g0089 a0001c0001t0015g0032 a0001c0001t0016g0017 a0001c0001t0032g0100 a0001c0001t0043g0019 a0001c0001t0045g0021	9	118	0.0763	-164	c.122 others(17): Show c.122+4679_122+4842del	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58171224	AACACTGC others(157): Show AACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGAACACTGCT GCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGCCTC ATCACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGCCTCATCACCCCA GCCCAAGGGGACAGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp1 HG02647.hp1 others(6): Show HG02258.hp1 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG03130.hp1 HG03579.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 others(6): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0032 a0001c0001t0043 a0001c0001t0045	a0001c0001t0001g0088 a0001c0001t0009g0003 a0001c0001t0011g0105 others(6): Show a0001c0001t0001g0088 a0001c0001t0009g0003 a0001c0001t0011g0105 a0001c0001t0013g0089 a0001c0001t0015g0032 a0001c0001t0016g0017 a0001c0001t0032g0100 a0001c0001t0043g0019 a0001c0001t0045g0021	9	118	0.0763	-164	c.122 others(17): Show c.122+5397_122+5560del	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEU4_chr2_241804193_241822413	241807504	ACCCAGGG others(157): Show ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCC TCCCTCCCCCCTCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0105 a0001c0004t0001g0105	1	319	0.0031	-164	c.-17 others(11): Show c.-1773_-1610del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1688		chr2	TogoVar
NFATC2IP_chr16_28945937_28972092	28965327	TCACTGGT others(157): Show TCACTGGTAATCCCAGCACTTTGGGAGGCCCAGGCAGAAGGATCGCTGCA GCCCAGGAGTTCGAGACTAGCCTGGGCAACATAGCGAGACCTCGTCTCTA CAAAAAAAAATTAAAAAGGGGGCTTTGGGAGGCCAAGGCGGGCAGATCAT GAGGGCAGGAGATTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0001 a0001c0001t0038g0001	1	396	0.0025	-164	c.14 others(11): Show c.1465_*1628del	NFATC2IP	ENSG00000176953.13	transcript	ENST00000320805.9	protein_coding	8/8	1465		chr16	TogoVar
NKD2_chr5_1003802_1043943	1022377	TGTGGGTG others(157): Show TGTGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGTGTCCCAGCCCT TTGTCCCTGCTCTTCCCACCCGCTAGTGGGTGTCCCAGCCCTTTGTCCCT GCTCTTCCCACCCGC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02040.hp2 HG02135.hp2 others(17): Show HG00597.hp1 HG02040.hp2 HG02135.hp2 HG02523.hp1 HG02572.hp1 HG02698.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp2 HG04184.hp2 HG04204.hp2 NA18942.hp1 NA18967.hp2 NA18968.hp2 NA18986.hp2 NA18995.hp2 NA19011.hp2 NA19054.hp2 NA19079.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0002 a0002c0003t0002 a0003c0004t0001 others(1): Show a0001c0001t0002 a0002c0003t0002 a0003c0004t0001 a0003c0004t0025	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0030 others(13): Show a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0030 a0001c0001t0002g0132 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0192 a0002c0003t0002g0155 a0003c0004t0001g0100 a0003c0004t0025g0102	20	319	0.0627	-164	c.142 others(17): Show c.142-9774_142-9611del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1022873	AGTGGGTG others(157): Show AGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGT CCCAGCCCGTTGTCCCTGCTCTTCCCACCTGCTGTGGGCGTCTCAGCCCG TTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCGTTGTCCCTG CTCTTCCCACCCTCT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	319	0.0031	-164	c.142 others(17): Show c.142-9273_142-9110del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1023088	TCAGCCCG others(157): Show TCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGT TGTCCCTGCTCTTCCCACCCGCTGTGGGCATCCCAGCCCATTGTCCCTGC TCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCAC CCGCTGTGGGCGTCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02965.hp2 HG02055.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0057 a0001c0001t0004g0058	2	319	0.0063	-164	c.142 others(17): Show c.142-9035_142-8872del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1023662	TCAGCCCA others(157): Show TCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCAT TGCCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGC TCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCAC CCGCTGTGGGCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01496.hp2 others(7): Show HG00639.hp1 HG00741.hp1 HG01496.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG02897.hp1 HG03654.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0185 a0001c0002t0001g0194 a0001c0002t0003g0006 others(5): Show a0001c0002t0001g0185 a0001c0002t0001g0194 a0001c0002t0003g0006 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0110 a0001c0002t0003g0262	10	319	0.0314	-164	c.142 others(17): Show c.142-8461_142-8298del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024101	GCTGTGGG others(157): Show GCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGC GTCTCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCC CATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCC TGCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02004.hp1 NA18962.hp2 others(1): Show HG00438.hp1 HG02004.hp1 NA18962.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009	a0001c0001t0005g0003 a0001c0001t0005g0091 a0001c0001t0008g0094 others(1): Show a0001c0001t0005g0003 a0001c0001t0005g0091 a0001c0001t0008g0094 a0001c0001t0009g0096	4	319	0.0125	-164	c.142 others(17): Show c.142-8039_142-7876del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024113	CCAGCCCA others(157): Show CCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCAT TGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGC TCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCAC CCTCTGTGGGCGTCT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	319	0.0031	-164	c.142 others(17): Show c.142-8032_142-7869del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024243	ATTGTCCC others(157): Show ATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCC ACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGT GGGCGTCCCAGCCCG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0086 a0001c0001t0008g0086	1	319	0.0031	-164	c.142 others(17): Show c.142-7868_142-7705del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024694	ATTGTCCC others(157): Show ATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCT GCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGT GGGCGTCTCAGCCCG	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG04199.hp1 NA18980.hp2 HG01358.hp2 HG04199.hp1 NA18980.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0015 a0001c0001 a0006c0015	a0001c0001t0001 a0001c0001t0014 a0006c0015t0001 a0001c0001t0001 a0001c0001t0014 a0006c0015t0001	a0001c0001t0001g0050 a0001c0001t0014g0148 a0006c0015t0001g0231 a0001c0001t0001g0050 a0001c0001t0014g0148 a0006c0015t0001g0231	3	319	0.0094	-164	c.142 others(17): Show c.142-7436_142-7273del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024810	CCAGCCCT others(157): Show CCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCGT TGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGC TCTTCCCACTCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCAC CCTCTGTGGGCGTCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG00738.hp2 others(2): Show HG00323.hp1 HG00735.hp2 HG00738.hp2 HG01346.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0203 a0001c0001t0001g0244 a0001c0001t0001g0011 a0001c0001t0001g0203 a0001c0001t0001g0244	5	319	0.0157	-164	c.142 others(17): Show c.142-7335_142-7172del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025495	GCTGTGGG others(157): Show GCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACTCTCTGTGGGC GTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCC CGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCGTTGTCCC TGCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00438.hp1 others(73): Show HG00099.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01109.hp1 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01517.hp2 HG01934.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02486.hp1 HG02615.hp1 HG02683.hp1 HG02735.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG03942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18960.hp2 NA18962.hp2 NA18968.hp1 NA18973.hp2 NA18980.hp2 NA18984.hp2 NA18992.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19011.hp1 NA19057.hp1 NA19064.hp1 NA19065.hp2 NA19074.hp1 NA19079.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0008 a0001c0010 others(2): Show a0001c0001 a0001c0008 a0001c0010 a0002c0003 a0006c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0008t0023 a0001c0008t0024 a0001c0010t0001 a0002c0003t0001 a0006c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(64): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0070 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0162 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0002g0212 a0001c0001t0003g0108 a0001c0001t0003g0124 a0001c0001t0005g0003 a0001c0001t0005g0080 a0001c0001t0005g0091 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0008g0094 a0001c0001t0009g0083 a0001c0001t0009g0084 a0001c0001t0009g0085 a0001c0001t0009g0096 a0001c0001t0012g0120 a0001c0001t0020g0202 a0001c0001t0021g0010 a0001c0001t0022g0199 a0001c0008t0023g0021 a0001c0008t0024g0021 a0001c0010t0001g0210 a0002c0003t0001g0034 a0002c0003t0001g0041 a0002c0003t0001g0208 a0002c0003t0001g0211 a0006c0015t0001g0231	76	319	0.2382	-164	c.142 others(17): Show c.142-6649_142-6486del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025628	TCCCAGCC others(157): Show TCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCTCAGCCC ATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCATTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCC ACCCTCTGTGGGTGC	T T	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18981.hp1 NA18985.hp1 others(2): Show NA18939.hp1 NA18981.hp1 NA18985.hp1 NA19030.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 a0001c0001 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0006t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0006t0009 a0002c0003t0001	a0001c0001t0001g0052 a0001c0001t0003g0109 a0001c0006t0009g0072 others(2): Show a0001c0001t0001g0052 a0001c0001t0003g0109 a0001c0006t0009g0072 a0001c0006t0009g0097 a0002c0003t0001g0040	5	319	0.0157	-164	c.142 others(17): Show c.142-6515_142-6352del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar

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