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
LRRC74A_chr14_76821408_76875304	76821724	ACGCCCCG others(394): Show ACGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCTGGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTG GGGGGATCAGCACCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCTGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGACA GC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0041 a0001c0004t0003g0041	1	408	0.0025	-401	c.-49 others(11): Show c.-4973_-4573del	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding		4683		chr14	TogoVar
OTUD7A_chr15_31470398_31875673	31511020	TGTATATC others(394): Show TGTATATCTATATGTAACATACATGTATATCTATATGTAACATACATATA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACACACATATGTATATCTATATGTAACACACA TACATATGTATATCTATATGTAACACACATACATATGTATATCTATATGT AACACACATACATATGTATATCTATATGTAACACACATATATATGTATAT CTATATGTAACACACATATATATGTATATCTATATGTAACACACATATAT ATGTATATCTATATGTAACACATATATATGTATATCTATATGTAACACAC AC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0085 a0001c0002t0085	a0001c0002t0085g0212 a0001c0002t0085g0212	1	244	0.0041	-401	c.894 others(17): Show c.894-7603_894-7203del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
RBM42_chr19_35624036_35642685	35627680	AAAAAAAA others(394): Show AAAAAAAAAAATAGTTCTTATCTGTTAAGGAGACATAATGGCGCATTTAT GACTGAGTTGATGTCTGGAATTTGCTTTAACATACTCCAGCAAAAAAATA TAAAAATAAGAAAAGTATAAGGCCATGCGCAGTGGCTCATGCCTGTAATC CCAGCACTCTGGGAGGCCGAGGCGAGTGGATCACTTGAGATCAGAAGTTT GCTACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAAAATACAA AAATTAGCCGGGTGTGGTAGTACACACCTGTAATCCCAGCTACTAGGGAA GCTGAGGCAGGAGAATCCCTTGAGTCCAGGAGGTGGAGGTTGCAGTGAGC CGAGGTCACACTACTGCAATCCAGCCTGGGCGACAGAGCGAGACTCCGTC TC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 NA19043.hp1 HG02922.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	2	428	0.0047	-401	c.-14 others(11): Show c.-1473_-1073del	RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding		1355		chr19	TogoVar
SCN11A_chr3_38840764_39056944	38877083	CTATATAT others(394): Show CTATATATATGGTATATATATGGTGTATATACTATATATATGGTGTATAT ACTATATATATGGTATATATATGGTGTATATACTATATATATGGTATATA TATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATAT ATATGGTATATATATGGTGTATATACTATATATATGGTATATATATGGTG TATATACTATATATATGGTATATATATGGTGTATATACTATATATGGTAT ATATATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTA TATATATGGTATATATATGGTGTATATACTATATATATGGTATATATATG GTGTATATACTATATATATGGTATATATATGGTGTATATACTATATATAT GG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG06807.hp2 HG01361.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0005 a0001c0001t0002 a0001c0007t0005	a0001c0001t0002g0103 a0001c0007t0005g0302 a0001c0001t0002g0103 a0001c0007t0005g0302	2	314	0.0064	-401	c.339 others(19): Show c.3393+2466_3393+2866del	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCUBE1_chr22_43192280_43348372	43280995	CTGTCACC others(394): Show CTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTG TCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTC ACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATC TCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCC CTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTT GGCCACCCTTCTGTCATCTCCTCCTCAGCTACCCTGTCACCTCCCTCAGC CATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTC AGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGC TA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18966.hp1 HG02258.hp2 NA18966.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0007 a0002c0002 a0003c0007	a0002c0002t0018 a0003c0007t0002 a0002c0002t0018 a0003c0007t0002	a0002c0002t0018g0012 a0003c0007t0002g0085 a0002c0002t0018g0012 a0003c0007t0002g0085	2	280	0.0071	-401	c.484 others(18): Show c.484+9650_484+10050del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SDHA_chr5_213320_262082	261681	CAGCATTA others(394): Show CAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGC TCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGC ATTACCGTGTGAGCTCCGCCCCCCGACAGAGCATTACCGTGTGAGCTCCG CCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCT CCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCG TGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCG TCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTG AG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01258.hp1 HG01175.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0095 a0001c0001t0003g0007 a0001c0001t0003g0095	2	266	0.0075	-401	c.52 others(11): Show c.5262_*5662del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4600		chr5	TogoVar
SIGIRR_chr11_400716_419999	400812	CCCCGCTC others(394): Show CCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCCGACCC CGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGCTC ACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCGG ACCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGCCC CGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCTGCCCCGCTCAC ACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCGCTCACACC CG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	242	0.0041	-401	c.46 others(11): Show c.4683_*5083del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4903		chr11	TogoVar
SIGIRR_chr11_400716_419999	400839	CCCGCCCC others(394): Show CCCGCCCCGCTCACCCCCGACCCCGCTCACACCCGCCCCGCTCACCCCCG CCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCC GCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTC ACCCCGGACCCCGCTCACCCCGGACCCCGCTCACACCCGCCCCGCTCACA CCCGGCCCCGCTCACCCCCGCCCCGCTCACCCCCGGCCCGCTCACACCCG GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGCTCACACCTGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCG CTCACACCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCA CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	242	0.0041	-401	c.46 others(11): Show c.4656_*5056del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4876		chr11	TogoVar
SPG7_chr16_89503403_89562766	89535854	TCTCTGGT others(394): Show TCTCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTGGTGCTGTGTGGCC TTCACTGTGGCCTCTCTGGTGCTGTATGGCCTTCAGTGTGGCCTCTCTGG TGCTGTGTGGCCTTCACTGTGGCCTCTCTGGTGCTGTGTGGCCTTCACTG TGGCCTCTCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTGGTGCTGTG TGGCCTTCAGTGTGGCCGCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCGC TCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTT CAGTGTGGCCGCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTG CTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTG GC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0295 a0001c0001t0003g0295	1	358	0.0028	-401	c.132 others(19): Show c.1324+3241_1324+3641del	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
TNK2_chr3_195858364_195913551	195874978	TCCCCTCG others(394): Show TCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCC TCGGGATGGCGCCCACGCACGCTCGGAGGCACAGGAAGCTCCCCCTCGGG ATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCG CCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACG CACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACGCACGC TCCGAGGCACAGGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAG GCACACGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAA GAAACTCCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAAC TC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01496.hp2 HG02129.hp2 others(27): Show HG00558.hp2 HG01496.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp2 HG02523.hp2 HG03017.hp1 HG03688.hp1 HG04115.hp2 HG04184.hp2 NA18941.hp2 NA18942.hp1 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18964.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18986.hp1 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA19002.hp2 NA19054.hp2 NA19081.hp2 NA19090.hp1 NA19091.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0016 a0022	a0001c0003 a0001c0019 a0001c0053 others(6): Show a0001c0003 a0001c0019 a0001c0053 a0002c0008 a0002c0018 a0003c0054 a0005c0056 a0016c0051 a0022c0055	a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 others(8): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0019t0003 a0001c0053t0003 a0002c0008t0002 a0002c0018t0003 a0003c0054t0001 a0005c0056t0002 a0016c0051t0001 a0022c0055t0003	a0001c0003t0001g0122 a0001c0003t0001g0149 a0001c0003t0001g0168 others(27): Show a0001c0003t0001g0122 a0001c0003t0001g0149 a0001c0003t0001g0168 a0001c0003t0001g0171 a0001c0003t0001g0276 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0135 a0001c0003t0003g0137 a0001c0003t0003g0140 a0001c0003t0003g0142 a0001c0003t0003g0154 a0001c0003t0003g0170 a0001c0003t0005g0139 a0001c0003t0005g0196 a0001c0003t0005g0197 a0001c0003t0005g0199 a0001c0003t0005g0201 a0001c0003t0005g0257 a0001c0019t0003g0132 a0001c0019t0003g0133 a0001c0019t0003g0194 a0001c0053t0003g0129 a0002c0008t0002g0267 a0002c0018t0003g0152 a0003c0054t0001g0134 a0005c0056t0002g0040 a0016c0051t0001g0208 a0022c0055t0003g0153	30	372	0.0807	-401	c.125 others(19): Show c.1256+2874_1257-2509del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
TNK2_chr3_195858364_195913551	195875020	ACTCCCCC others(394): Show ACTCCCCCTCGGGATGGCGCCCACGCACGCTCGGAGGCACAGGAAGCTCC CCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCG GGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGG CGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCC ACGCACGCTCCGAGGCACAGGAAGCTCCCCTCGGGATGGCGCCCACGCAC GCTCCGAGGCACACGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCG AGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCA CAAGAAACTCCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGA AG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG02055.hp1 others(18): Show HG01175.hp1 HG01243.hp2 HG02055.hp1 HG02074.hp2 HG02647.hp2 HG02717.hp1 HG03130.hp1 HG03209.hp1 HG03579.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18948.hp2 NA18961.hp2 NA18962.hp1 NA18979.hp1 NA19007.hp2 NA19060.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0026 a0001 a0002 a0026	a0001c0001 a0001c0002 a0001c0033 others(3): Show a0001c0001 a0001c0002 a0001c0033 a0002c0008 a0002c0023 a0026c0048	a0001c0001t0001 a0001c0002t0001 a0001c0033t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0033t0001 a0002c0008t0001 a0002c0023t0001 a0026c0048t0001	a0001c0001t0001g0246 a0001c0001t0001g0339 a0001c0002t0001g0130 others(18): Show a0001c0001t0001g0246 a0001c0001t0001g0339 a0001c0002t0001g0130 a0001c0002t0001g0175 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0186 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0033t0001g0176 a0002c0008t0001g0182 a0002c0008t0001g0204 a0002c0023t0001g0207 a0026c0048t0001g0123	21	372	0.0565	-401	c.125 others(19): Show c.1256+2832_1257-2551del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
AFDN_chr6_167821911_167977023	167940364	TGTGTGGA others(393): Show TGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAGCCATCCAC AGGAGACGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAACC ATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGG TGGAAGCCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGG GGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGG GATGTAGGGGTGAGGGTGGAAGCCATCCACAGGAGACATGTGGACAGACA CAGAGGGATGTAGGTGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTG GACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAGCCATCCACAGGAGA C	T T	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0213 a0001c0007t0007g0213	1	326	0.0031	-400	c.310 others(19): Show c.3100-2724_3100-2325del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
ANGPT1_chr8_107244482_107502918	107368450	GTATTCCT others(393): Show GTATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT A	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(205): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0005t0002 a0002c0002t0016 a0003c0003t0002 a0004c0004t0003	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 others(205): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0290 a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0028 a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0149 a0001c0001t0002g0153 a0001c0001t0002g0163 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0184 a0001c0001t0002g0190 a0001c0001t0002g0194 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0002g0231 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0289 a0001c0001t0003g0032 a0001c0001t0003g0046 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0161 a0001c0001t0003g0189 a0001c0001t0003g0200 a0001c0001t0003g0259 a0001c0001t0003g0264 a0001c0001t0003g0287 a0001c0001t0004g0228 a0001c0001t0005g0067 a0001c0001t0005g0096 a0001c0001t0005g0098 a0001c0001t0005g0224 a0001c0001t0005g0225 a0001c0001t0005g0226 a0001c0001t0005g0249 a0001c0001t0005g0253 a0001c0001t0005g0266 a0001c0001t0006g0174 a0001c0001t0006g0268 a0001c0001t0007g0250 a0001c0001t0007g0256 a0001c0001t0008g0011 a0001c0001t0008g0101 a0001c0001t0008g0104 a0001c0001t0008g0144 a0001c0001t0008g0236 a0001c0001t0008g0275 a0001c0001t0009g0102 a0001c0001t0009g0274 a0001c0001t0009g0280 a0001c0001t0009g0281 a0001c0001t0013g0059 a0001c0001t0014g0160 a0001c0001t0015g0145 a0001c0001t0015g0204 a0001c0001t0016g0062 a0001c0001t0017g0002 a0001c0001t0018g0251 a0001c0001t0019g0131 a0001c0001t0021g0284 a0001c0001t0022g0016 a0001c0001t0024g0037 a0001c0001t0025g0008 a0001c0005t0002g0113 a0002c0002t0016g0278 a0003c0003t0002g0030 a0004c0004t0003g0050	208	292	0.7123	-400	c.298 others(19): Show c.298-21753_298-21354del	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ATAD2_chr8_123314850_123401447	123315035	GTCAGCCC others(393): Show GTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGCA TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCTGCCCCGTCCAGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCACC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTAGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTTGGAGGGAGGTGGGGGG A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp1 others(109): Show HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02132.hp1 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02895.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp2 NA18977.hp2 NA18981.hp2 NA18982.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp2 NA19004.hp1 NA19043.hp2 NA19058.hp2 NA19082.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0007 a0008 a0010 a0012 a0013	a0001c0001 a0001c0009 a0002c0026 others(7): Show a0001c0001 a0001c0009 a0002c0026 a0003c0024 a0004c0007 a0007c0022 a0008c0015 a0010c0020 a0012c0018 a0013c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0009t0001 a0002c0026t0001 a0003c0024t0001 a0004c0007t0001 a0007c0022t0001 a0008c0015t0001 a0010c0020t0001 a0012c0018t0001 a0013c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0061 a0001c0001t0001g0110 others(108): Show a0001c0001t0001g0001 a0001c0001t0001g0061 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0138 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0002g0143 a0001c0001t0003g0006 a0001c0001t0005g0002 a0001c0001t0011g0191 a0001c0001t0012g0248 a0001c0009t0001g0017 a0001c0009t0001g0018 a0002c0026t0001g0233 a0003c0024t0001g0177 a0004c0007t0001g0109 a0004c0007t0001g0201 a0007c0022t0001g0175 a0008c0015t0001g0116 a0010c0020t0001g0231 a0012c0018t0001g0107 a0013c0021t0001g0215	112	278	0.4029	-400	c.56 others(11): Show c.5699_*6098del	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding		4814		chr8	TogoVar
CDH4_chr20_61247261_61945617	61944961	TTCTCACT others(393): Show TTCTCACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCCC TTCTCACCAACGATGAGGAGCACTGCGACTGTCTGCACCGTGGCCGCCCC TTCTCACCGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCAACGATGAGGAGCATCGCGGCTGTCTGCACCATGGGAGCCCC TTCTCACTGACAATGAGGAGCATTCAGAGTGTCTACACCGTGGCCACGCC TTCTCACCGATGCTGAGGAGCACCGAGACTGTCTGCACTGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCATCTGCACCGTGGCCGCCCC C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0091 a0001c0001t0019g0091	1	106	0.0094	-400	c.80 others(11): Show c.8019_*8418del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4345		chr20	TogoVar
CPN2_chr3_194334768_194356328	194352197	AGGGTGTA others(393): Show AGGGTGTATATGTGAGTGGGCGTGTGTATGTGAGTGTAGGAGTGTGTGTG GTGAGAGCACATGTGTGATGTGTGTGTAAGTGGGTGTATGTGTGAGTGGG TGTAAAGGTGTGTGTGGTGAGTGCGTGTGTAAGTGGGTGTAGGGGAGTGT TTGGTGAGTGCATGCGTGTGGGTGTGGGGTGTGTGTGTGTAAATGGGTAT ATGTGTGAATGGGTGTAGCGGTGTGTGTGGTGAGTGCGTGTGTAAGTGGG TGTATGTGTGAATGGGTATGTAAGTGGGTGTAGGGGAGTGTTTGGTGAGT GCGTGCGTGTGGGTGTGGGGGGTGTGAGTGGGTATATGTGTGAATGGGTG TAGGGGTGTGTGTGGTGAGTGCGTGTGTGTAGGTGTGCAGTGTGTGTAAG T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0187 a0003c0004t0004g0187	1	440	0.0023	-400	c.-13 others(10): Show c.-1359_-960del	CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding		870		chr3	TogoVar
CROCC2_chr2_240901336_240998311	240907900	GCTCTACC others(393): Show GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCAGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGCGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGACCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA C	G G	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0243 a0002c0011t0002g0243	1	350	0.0029	-400	c.78+ others(15): Show c.78+1352_78+1751del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240908868	GGGGTGAG others(393): Show GGGGTGAGCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCT GGGGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT GGGGTGACCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCT GGGGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT CAGGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT GGCGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT CGGGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT GGGGTGAGCTCTACCTCCTCCACCTGGCGTGAGCTCTACCTCCTCCACCT C	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02809.hp1 HG03209.hp2 others(1): Show HG00741.hp1 HG02809.hp1 HG03209.hp2 NA19043.hp2	a0012 a0013 a0019 others(1): Show a0012 a0013 a0019 a0057	a0012c0013 a0013c0076 a0019c0015 others(1): Show a0012c0013 a0013c0076 a0019c0015 a0057c0031	a0012c0013t0001 a0013c0076t0001 a0019c0015t0001 others(1): Show a0012c0013t0001 a0013c0076t0001 a0019c0015t0001 a0057c0031t0001	a0012c0013t0001g0106 a0013c0076t0001g0105 a0019c0015t0001g0108 others(1): Show a0012c0013t0001g0106 a0013c0076t0001g0105 a0019c0015t0001g0108 a0057c0031t0001g0107	4	350	0.0114	-400	c.78+ others(15): Show c.78+2377_78+2776del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP4F11_chr19_15907377_15939529	15931541	CGGGGAGA others(393): Show CGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG T	C C	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0308 a0001c0002t0001g0308	1	386	0.0026	-400	c.198 others(17): Show c.198+2270_199-1941del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931629	GGAATGAG others(393): Show GGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTG AGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA A	G G	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0309 a0001c0002t0001g0309	1	386	0.0026	-400	c.198 others(17): Show c.198+2182_199-2029del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931843	AGGAGAGG others(393): Show AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCG G	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0096 a0002c0001t0096	a0002c0001t0096g0133 a0002c0001t0096g0133	1	386	0.0026	-400	c.198 others(17): Show c.198+1968_199-2243del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933309	GGAATGAG others(393): Show GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA A	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0069 a0002c0001t0069	a0002c0001t0069g0059 a0002c0001t0069g0059	1	386	0.0026	-400	c.198 others(15): Show c.198+502_198+901del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933465	GAGAAGAA others(393): Show GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG C	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0084 a0004c0007t0084	a0004c0007t0084g0058 a0004c0007t0084g0058	1	386	0.0026	-400	c.198 others(15): Show c.198+346_198+745del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DCC_chr18_52335197_53540899	53086173	CTCTTCTT others(393): Show CTCTTCTTCTTCTTTTCTTCTTCTTCTTTTCTTCTTTCCTTCCCTTCTTC TTCTTCCGTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCT TCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTT CCTTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTC TTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCT TCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTT CCTTTCTTCTTCTTCTTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTTCT TCTTCCTTCTTCTTCTTCTTCTTTCTTCTTCTTCCTTCTTCTTCTTCTTC T	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0105 a0001c0005t0019g0105	1	114	0.0088	-400	c.126 others(21): Show c.1261+20009_1261+20408del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53086214	CCCTTCTT others(393): Show CCCTTCTTCTTCTTCCGTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCT TCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTT CTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTC TTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCT TCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTT CTTCTTCTTCCTTTCTTCTTCTTCTTTCTTCTTCTTCCTTTCTTCTTCTT CTTCTTTCTTCTTCCTTCTTCTTCTTCTTCTTTCTTCTTCTTCCTTCTTC TTCTTCTTCTTTCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTC T	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp2 HG03579.hp2 HG02970.hp2 HG02976.hp2 HG03579.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0012 a0003c0006 a0001c0005 a0002c0012 a0003c0006	a0001c0005t0011 a0002c0012t0011 a0003c0006t0010 a0001c0005t0011 a0002c0012t0011 a0003c0006t0010	a0001c0005t0011g0045 a0002c0012t0011g0037 a0003c0006t0010g0072 a0001c0005t0011g0045 a0002c0012t0011g0037 a0003c0006t0010g0072	3	114	0.0263	-400	c.126 others(21): Show c.1261+20049_1261+20448del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28			chr18	TogoVar
DHRSX_chrX_2214506_2505976	2265663	ACCCAGAG others(393): Show ACCCAGAGCACCAGTGCTCGGCAGACGCAGGGAGCACTGTCCCCAGAGCA CCAGTGTATAGCAGATGCAGGGAGCATTGTCCCCAGAGCACCAGTGCTTG GCAGACGCAGGGAGCACTGTCCCCAGAGCACCGGTGTCCAGCAGACGCAG GGAGCACTGTCCTCAGAGCACCAGTGTACAGCAGACACAGGGAGCACCGT CCCCAGAGCACCAATGCTCGGCGGACACAGGGAGCACTGTCCCCAGAGCA CCAGTGCTCGGCAGATGCAGGGAGCACTGTCCCCAGAGCACCAGTGTACA GCAGATGCAGGGAGCACTGTTCCCAGAGCACCAGTGCTCGGCAGACGCAG GAAGCACTGTTCCCAGAGCACCAGTGTACAGCAGACGCAGGGAGCACTGT C	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0004 a0002c0005t0004g0004	1	50	0.0200	-400	c.596 others(16): Show c.596+677_596+1076del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	5/6			chrX	TogoVar
DVL1_chr1_1330278_1354418	1350041	GGGGCAGG others(393): Show GGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAG CGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGG AGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGG GGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGAC GGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAG CGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGG AGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGACGGGGGGAGTGAGGAGG GGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGAC C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG03130.hp1 HG02896.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0003 a0001c0012t0003 a0001c0001t0003 a0001c0012t0003	a0001c0001t0003g0052 a0001c0012t0003g0051 a0001c0001t0003g0052 a0001c0012t0003g0051	2	344	0.0058	-400	c.-13 others(10): Show c.-1376_-977del	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		624		chr1	TogoVar
EXOC3L4_chr14_103089725_103115559	103109179	CCCTCTCT others(393): Show CCCTCTCTCCCTCGCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTC TCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCC CATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCC TCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCA CCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGT CTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTC CCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGT CCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCC T	C C	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0204 a0005c0008t0003g0204	1	404	0.0025	-400	c.197 others(17): Show c.1976+667_1977-448del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109192	GCCACCCT others(393): Show GCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCC CGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCC CTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCC ACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATG TCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCT CCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTG CCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCC TCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTC T	G G	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0321 a0001c0003t0002g0321	1	404	0.0025	-400	c.197 others(17): Show c.1976+684_1977-431del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361159	GCACTACC others(393): Show GCACTACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCACC ACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAGCACCACCTC CACCACCACCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCA CCACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCTCC ACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCTC CACCACCACCACCTCCACCACCACCTCCTACCACTACCACCTCCAGCACC ACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCAC TACCACCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCTCCA C	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0184 a0001c0001t0040g0184	1	230	0.0044	-400	c.544 others(19): Show c.544-10751_544-10352del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FZR1_chr19_3501311_3543334	3529656	GGATGGGT others(393): Show GGATGGGTGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGCGGAT GGGAGAGCGGATGGGAGAGTGGATGGGAGAGTGGATGGGTGAGCGCATGG GAGCGCATGGGTGAGCGGATGCGAGAGTGGATGAGAGTGGTTGAGGGAGT GGATGGTTGAGTGGATGGGTGAGCGGATGGGTGAGCGGGTGGGTGAGCGG GTGGGTGAGCGGGTGGGTGAGCGGGTGGGAGAGCGGATGGGAGAGTGGTT GAGGGAGCGGATGGGTGAGCGGATGGGAGAGCGCATGGGTGAGCAGATGC AAGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGTGGATGGGAGA GCAGATGGGTGAGTGGATGGGAGAGTGGATGGGTGAGCGGATGGGAGAGC A	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0066 a0001c0001t0007g0066	1	314	0.0032	-400	c.655 others(16): Show c.655-1125_655-726del	FZR1	ENSG00000105325.15	transcript	ENST00000441788.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
HAUS5_chr19_35607735_35630355	35627681	AAAAAAAA others(393): Show AAAAAAAAAATAGTTCTTATCTGTTAAGGAGACATAATGGCGCATTTATG ACTGAGTTGATGTCTGGAATTTGCTTTAACATACTCCAGCAAAAAAATAT AAAAATAAGAAAAGTATAAGGCCATGCGCAGTGGCTCATGCCTGTAATCC CAGCACTCTGGGAGGCCGAGGCGAGTGGATCACTTGAGATCAGAAGTTTG CTACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAAAATACAAA AATTAGCCGGGTGTGGTAGTACACACCTGTAATCCCAGCTACTAGGGAAG CTGAGGCAGGAGAATCCCTTGAGTCCAGGAGGTGGAGGTTGCAGTGAGCC GAGGTCACACTACTGCAATCCAGCCTGGGCGACAGAGCGAGACTCCGTCT C	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0014 a0005c0005t0014	a0005c0005t0014g0010 a0005c0005t0014g0010	1	430	0.0023	-400	c.46 others(11): Show c.4689_*5088del	HAUS5	ENSG00000249115.9	transcript	ENST00000203166.10	protein_coding		2327		chr19	TogoVar
LRRC15_chr3_194350249_194374743	194352197	AGGGTGTA others(393): Show AGGGTGTATATGTGAGTGGGCGTGTGTATGTGAGTGTAGGAGTGTGTGTG GTGAGAGCACATGTGTGATGTGTGTGTAAGTGGGTGTATGTGTGAGTGGG TGTAAAGGTGTGTGTGGTGAGTGCGTGTGTAAGTGGGTGTAGGGGAGTGT TTGGTGAGTGCATGCGTGTGGGTGTGGGGTGTGTGTGTGTAAATGGGTAT ATGTGTGAATGGGTGTAGCGGTGTGTGTGGTGAGTGCGTGTGTAAGTGGG TGTATGTGTGAATGGGTATGTAAGTGGGTGTAGGGGAGTGTTTGGTGAGT GCGTGCGTGTGGGTGTGGGGGGTGTGAGTGGGTATATGTGTGAATGGGTG TAGGGGTGTGTGTGGTGAGTGCGTGTGTGTAGGTGTGCAGTGTGTGTAAG T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0145 a0001c0001t0045g0145	1	358	0.0028	-400	c.67 others(11): Show c.6701_*7100del	LRRC15	ENSG00000172061.9	transcript	ENST00000347624.4	protein_coding		3051		chr3	TogoVar
MLPH_chr2_237482251_237560322	237544527	GGGACAGT others(393): Show GGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATTGTT TATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCAGTG GTGATTGGGCACTGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAG TGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGG TGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGAGGGGA CAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGG GACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGG GACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTGGG C	G G	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0031 a0007c0007t0002g0031	1	286	0.0035	-400	c.153 others(19): Show c.1539+1869_1540-1679del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MXRA8_chr1_1347691_1363555	1350041	GGGGCAGG others(393): Show GGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAG CGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGG AGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGG GGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGAC GGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAG CGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGG AGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGACGGGGGGAGTGAGGAGG GGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGAC C	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG03130.hp2 HG02896.hp1 HG03130.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0004 a0002c0005t0004 a0002c0003t0004 a0002c0005t0004	a0002c0003t0004g0050 a0002c0005t0004g0049 a0002c0003t0004g0050 a0002c0005t0004g0049	2	338	0.0059	-400	c.31 others(11): Show c.3163_*3562del	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		2649		chr1	TogoVar
NASP_chr1_45579041_45623893	45611456	CTTTTTTT others(393): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTC ACCCAGGCTGGAATGCAGTGGCGTGATCTAGGCTCACTGCAACCTCCGCC TCCTAGGTTCAAGTGATTGTTCTGCCTCCGCCTCCCGAGTAGCTGGGACT ACAGGCATGTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCCCAATCTCCTGACCTGGTGA TCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACC GCGCCTGGCAGCCATTGCCATTACTTTAAAACCTTTCCCAACTTGTGCCC AGGTATCAATGGCAATGCCCTGATGTCCTCAGTAAATTTGTTAAAGTATC T	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	300	0.0033	-400	c.142 others(19): Show c.1427-1691_1427-1292del	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NGEF_chr2_232873701_233018256	232896644	GTAGGGGT others(393): Show GTAGGGGTTGGGGTGGGGGTAGGGGTGGGGGTGGGGGTAGGGATGGGGGT GGGGGTAGGGGTGGGGGTAGGGGTGAGTGCAAAAGTAGGGGTGAGGGTGA AGGTAGGGGTGAGGGTGAGGTTAGGGGCGTGGGTGAAGGTAGGGGTGAGG GTGAAGGTAGGGGTGAGGGTAGGGGTAAGGGTGAGGGTAGGGTTGAGGGT GGGGGTGAGGGTGACGGTGGGTATAGGGGTGAGGGTGTGGGTAGGTGTGA GGGTGGGGGTAAGGGTAAAGGTAGGGATGAGGTGAGGGTAGGGGTGAGGG TGAGGGTACAGGTGAGGATGGGGGTAGTGGTGGGGTTAAGGGTGAGGTAG GGGTGCGGGTGAGGGTAGGGGCGAGTGTGGGGGTAGGAGTGGGGGTGAGG T	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03041.hp2 HG03209.hp1 others(3): Show HG02451.hp2 HG03041.hp2 HG03209.hp1 HG03579.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0024 a0001c0001t0002g0150 a0001c0001t0002g0257 others(3): Show a0001c0001t0002g0024 a0001c0001t0002g0150 a0001c0001t0002g0257 a0001c0001t0002g0283 a0001c0001t0003g0279 a0001c0001t0003g0358	6	362	0.0166	-400	c.829 others(17): Show c.829-2128_829-1729del	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NIM1K_chr5_43187225_43285850	43215975	GGAAATAC others(393): Show GGAAATACATCACTGGGGATGCAGGCACTCCCCGGAGGCTTTTCTGTTTC CTATCATGATGAATATTTATTTGATTTGAAAAAACCAACTCATTCTTTTG ATCTTGGTGTACATATAGGTATATACCTATAAAGAAATGTAAATACCCTT TATTGCCATTTTATTTCCTGAGTAGCATTTTAAAATGTAGTATTGTTTTG TATGGACTAAATAAGGCTTTTTCTGAAGACCCCAGGCATGGTTTTCTGTG AAGTGAGTTGAGGAAATGGAAACTGGTGAGTCTGACTCTGTGTTTGCTCA GGGCTGGTACTAAGTGAGCCCCCTATGAATTTTGAACTGTCATTCATGAT AATTGAGGAAAGAAAAGCTGTATCAGGAGAGAAATCAGATGCGATGACCA T	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0231 a0001c0001t0012g0231	1	292	0.0034	-400	c.-69 others(21): Show c.-695+23568_-695+23967del	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NXN_chr17_794310_984776	835684	GAAACACC others(393): Show GAAACACCGGTGGGATTCGTCAGCCTCATAGAGGCCGCAGGGAAAAAACA CCGGTGGGATTCGTCAGCCCCCACAGAGGCCGCAGGGGAAAAACACCGGT GGGATTCGTCAGCCTCATAGAGGCCGCAGGGGAAAAACACCGGTGGGATT CGTCAGCCTCATAGAGGCCGCAGGGAAAAAACACCGGTGGGATTCGTCAG CCCCCACAGAGGCCGCAGGGGAAAAACACCGGTGGGATTCGTCAGCCTCA TAGAGGCCGCAGGGGAAAAACACCGGTGGGATTCGTCAGCCTCATAGAGG CCGCAGGGAAAAAACACCGGTGGGATTCGTCAGCCCCCACAGAGGCCGCA GGGGAAAAACACCGGTGGGATTCGTCAGCCCCCACAGAGGCCGCGGGGAA A	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00597.hp2 others(55): Show HG00099.hp2 HG00323.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01891.hp1 HG01928.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02723.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18999.hp2 NA19030.hp2 NA19043.hp1 NA19066.hp2 NA19240.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0011 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0025 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0003t0001 a0001c0003t0008 a0001c0004t0001 a0001c0004t0002 a0001c0004t0007 a0001c0007t0001 a0001c0011t0004 a0002c0005t0004 a0002c0005t0009	a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0030 others(55): Show a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0135 a0001c0001t0001g0147 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0186 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0002g0026 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0072 a0001c0001t0002g0079 a0001c0001t0002g0088 a0001c0001t0002g0169 a0001c0001t0002g0215 a0001c0001t0003g0057 a0001c0001t0003g0061 a0001c0001t0003g0065 a0001c0001t0003g0084 a0001c0001t0003g0097 a0001c0001t0003g0165 a0001c0001t0003g0198 a0001c0001t0003g0210 a0001c0001t0004g0224 a0001c0001t0005g0007 a0001c0001t0005g0059 a0001c0001t0005g0074 a0001c0001t0005g0108 a0001c0001t0006g0172 a0001c0001t0006g0202 a0001c0001t0011g0013 a0001c0001t0011g0174 a0001c0001t0012g0066 a0001c0001t0013g0220 a0001c0001t0025g0200 a0001c0001t0029g0134 a0001c0001t0031g0238 a0001c0001t0033g0241 a0001c0003t0001g0042 a0001c0003t0008g0022 a0001c0004t0001g0235 a0001c0004t0002g0232 a0001c0004t0007g0233 a0001c0007t0001g0089 a0001c0011t0004g0234 a0002c0005t0004g0197 a0002c0005t0009g0199	58	242	0.2397	-400	c.361 others(18): Show c.361-10006_361-9607del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PCGF3_chr4_700832_775089	745954	CCGGGGTC others(393): Show CCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC G	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0077 a0002c0002t0016g0077	1	366	0.0027	-400	c.462 others(17): Show c.462+1267_462+1666del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10			chr4	TogoVar
PCGF3_chr4_700832_775089	747206	CGGGGGTC others(393): Show CGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAG TGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTC GCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC G	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0152 a0001c0001t0013g0152	1	366	0.0027	-400	c.462 others(17): Show c.462+2523_462+2922del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747260	GCCCCGGG others(393): Show GCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTG CAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG C	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02258.hp2 others(2): Show HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0289 a0001c0001t0004g0361 a0001c0001t0004g0362 others(2): Show a0001c0001t0004g0289 a0001c0001t0004g0361 a0001c0001t0004g0362 a0001c0001t0012g0008 a0001c0001t0012g0016	5	366	0.0137	-400	c.462 others(17): Show c.462+2576_462+2975del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PGA3_chr11_61198515_61218098	61201564	TCTTAAAG others(393): Show TCTTAAAGGTGGCGCGTCCAGAGTTGTTTATTCCTCCCGGTGGGTTCGTG ATCTCGCTGGCTTCCGGAATGAAACTGCAGACCTTCGCGGTGAGTGTTAC AGCTCATAACAGTAGTGCAGACCCAAGGAGTGAGTAGCAGCAAGATTTAT TGTGAAGAGCGAAAGAACAAAGCTTCCACAGCCTGGAAGATGTCCCGAGC AGGTTGCCACTGTTGGCTCCAGTGGCTTGCTTTTAGTCCCTTATTTGGCG CCACACACATCCTGCTGATTGGTCCATTTTACAGAGAACTGATTGGTGCA TTTACAATCCTTTAGCTACACACAAAAGTTCTCCAATTCCCCACCTGATT CTCTAGACACAGAATGCTGATTGGTGCATTTACAAGCCTTCAGCTAGACA C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01496.hp2 HG02280.hp2 others(6): Show HG00597.hp2 HG01496.hp2 HG02280.hp2 NA18995.hp1 NA19076.hp2 NA19079.hp2 NA19087.hp2 NA20129.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0016 a0002c0002 a0002c0016	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0016t0002	a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0082 others(5): Show a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0006g0085 a0002c0016t0002g0028	9	311	0.0289	-400	c.-20 others(11): Show c.-2000_-1601del	PGA3	ENSG00000229859.10	transcript	ENST00000325558.11	protein_coding		1950		chr11	TogoVar
PIK3C2B_chr1_204417633_204499805	204471058	CATGGCTT others(393): Show CATGGCTTCACTGGTATTCTCACATGATGGCTTCATTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT G	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0196 a0001c0009t0002g0196	1	302	0.0033	-400	c.-84 others(17): Show c.-84-1572_-84-1173del	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PINX1_chr8_10759961_10844875	10805585	AGAGCACA others(393): Show AGAGCACAGGAAGGGGCCACACTAGCGCTGAGTGGGTGACGGAGCACAGG AAGGGGCCACACTAGCGCTGAGTGGGTGACGGAGCACAGGAAGGGGCCAC ACTAGTGCTGAGTGGGTGACGGAGCACAGGAAGGGGCCACACTAGCGCTG AGTGGGTGACGGAGCACAGGAAGGGGCCACACTAGTGCTGAGTGGGTGGC AGAGCACAGGAAGAAGCCACACTAGTGCTGAGGGGGTGACAGAGCACAGG AAGGGGCCACACTAGCGCTGAGTGGGTGACGGAGCACAGGAAGGGGCCAC ACTAGTGCTGAGGGGGTGACAGAGCACAGGAAGGGGCCACACTAGTGCTG AGGGGGTGACGGAGCACAGGAAGGGGCCACACTAGTGCTGAGTGGGTGAC G	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	352	0.0028	-400	c.471 others(19): Show c.471+14208_471+14607del	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PIP5K1C_chr19_3625183_3705468	3649063	ATGCCCAC others(393): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0038 a0009c0024t0038	a0009c0024t0038g0329 a0009c0024t0038g0329	1	332	0.0030	-400	c.112 others(17): Show c.1128-755_1128-356del	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PSMA6_chr14_35287382_35322493	35318275	CTTAAACT others(393): Show CTTAAACTCCTGGCCTCGAACAGTCCTATCTCAGGCTCCCAAAGTGCTGG GATTACAGGTGTAAGTCACTGCACTGGGCCCCTCCTGTCTAATTGTAACT TTTTAGCTGTTCACCACCTTCTCCCCATCCCTCCCACTACCACCTCCAGT CCCTGGTAACCACTGTTCTATGTACTATTCACTACTTATAGATCAACGTT TTTAGACTTGGCATGTAAGTGAAAATGTGGCATTTGTCTTTCTGTATCTG GCTTATTTTCACTTAATGTATTGTCCTCTAGGTTCATTCATGTTATAAAT AACAGGATTTCATTCTTTTTAATAGCTGAATAGTGTTCCTTTGTGTATAT ATATCACATTTTCTTTATCCATTCATTCACTTTGAACACTTAAGTCAGTT A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	380	0.0026	-400	c.97 others(10): Show c.970_*1369del	PSMA6	ENSG00000100902.11	transcript	ENST00000261479.9	protein_coding		783		chr14	TogoVar
RHNO1_chr12_2872223_2894524	2883813	GCCAAATA others(393): Show GCCAAATATATTTTCTTCCAAATAATCCAGGGATAGAAGAAGTGGCTAGG GGTGTAGATGGGTCAGGATTAGCCTAGCCGACAGTTATTGGAGCTGGATA ATTGGTACACAGGGTCCATTACATTATTCAGTCTACTTTAGTATATATTT GACATTATCTGGAGTGAAAAATTTTTTAAAAGCCAGGTGGGATCAAATTC TTCTGCTTAAAGTCCAAACTCATATGGTGTCACCTGTTTTTTTTTATTTG TTTGTTTGTTTGTTTTGGAGACGAGTCTCGCTTTGTCTCCCAGGCTGGAG TGCAGTGGTGCAATCTCGGCTCATTGTAACCTCCACCTCCCAGGTTCAAG CGATTCTCCTGCCTCAGTCTCCCATGTAGTTCGGATTACAGGCATGCACC A	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	426	0.0024	-400	c.-84 others(17): Show c.-84-1466_-84-1067del	RHNO1	ENSG00000171792.11	transcript	ENST00000489288.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3AL_chr17_207389_357807	287607	TCTCTCCA others(393): Show TCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCGCAC CCTCTCTCTCCACCGTCAGAGCTCGCACCCTCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCTCCACCGACAGACCTCGCACCCTCTCTCTCCACCGA CAGACCTCGCACTCTCTCTCCACCGACAGACCTCGCACGCTCTCTCTCCA CCGTCAGACCTCACACTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTC CACCGACAGACCTCACACTCTCTCTCCACCGACAGAGCTCACACTCTCTC TCCACCGTCAGACCTCACTCTCTCTCTCCACCGTCAGACCTCCCACCCTC TCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCACAC C	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	133	0.0075	-400	c.352 others(17): Show c.352-6153_352-5754del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	287633	TCTCTCCA others(393): Show TCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGAGCTCGC ACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGACAGA CCTCGCACCCTCTCTCTCCACCGACAGACCTCGCACTCTCTCTCCACCGA CAGACCTCGCACGCTCTCTCTCCACCGTCAGACCTCACACTCTCTCTCCA CCGTCAGACCTCACTCCCTCTCTCCACCGACAGACCTCACACTCTCTCTC CACCGACAGAGCTCACACTCTCTCTCCACCGTCAGACCTCACTCTCTCTC TCCACCGTCAGACCTCCCACCCTCTCTCCACCGTCAGACCTCGCACCCTC TCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCACTC C	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18993.hp2 HG02723.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0004 a0001c0001t0001 a0001c0006t0004	a0001c0001t0001g0089 a0001c0006t0004g0022 a0001c0001t0001g0089 a0001c0006t0004g0022	2	133	0.0150	-400	c.352 others(17): Show c.352-6179_352-5780del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar

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Search Results (Total: 10000 hits)