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
PALM2AKAP2_chr9_109775198_110177512	110061732	TTTCACCA others(298): Show TTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGAGCTCCAGTAATCT GCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATAAGCCAACATG CCAGACAAATATTATTATAATTTTTTGTTACAGATGAAGAAACAGACACA AGGGTTTAGGGCAAGGGTACACAGCTAGTGGCAAAGCCAAGCTTGGAATC CCTATAGGCTAGTGGTTAGAGACAGTCTCTTAATCATTCCTGTTTTTACT ATGCTGCCTTCTTAGTGCTTAATACAAACTAAGCTTGTTGTCTCCTTTTA CTATGG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02622.hp2 others(11): Show HG01891.hp1 HG02280.hp2 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02896.hp1 HG02965.hp1 HG03098.hp1 HG03195.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA19043.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0008	a0001c0001 a0002c0004 a0003c0003 others(3): Show a0001c0001 a0002c0004 a0003c0003 a0005c0008 a0006c0009 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0031 a0002c0004t0001 a0003c0003t0001 a0005c0008t0006 a0006c0009t0014 a0008c0010t0012	a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0101 others(11): Show a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0101 a0001c0001t0002g0200 a0001c0001t0011g0162 a0001c0001t0031g0165 a0002c0004t0001g0219 a0003c0003t0001g0160 a0005c0008t0006g0099 a0005c0008t0006g0159 a0005c0008t0006g0192 a0005c0008t0006g0194 a0006c0009t0014g0151 a0008c0010t0012g0201	14	222	0.0631	-305	c.582 others(19): Show c.582+45696_582+46000del	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIK3CB_chr3_138647698_138839928	138693179	CGCCTCCA others(298): Show CGCCTCCAGGGCTCAAGTGATCCTCCTACCTCAGCCGCCCAAGTAGCTGG GACCACAGGTGCGCACCTCCACGCCCAGCTAATGTCTCTGTATTTTTGGT AGAGACGGGGCTTAACCATGTTGCCAAGGCTGGTCTCAAACTCCTGGGCT CATCGATCTGCCTGCGTTTGTCTCCCAAAGTGATGGGATTATAGGTGTGA GCCACCACAGCTGGCTGAATTATTATTATTTTTTTTTGGAGACGGAGTCT CGCTCTGTCAACCAGGCTGGAGTGCAGTGGTACGATCTCTGCCCACTGCA ACCTCT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA20300.hp2 HG02723.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0068 a0001c0001t0004g0039 a0001c0001t0004g0068	2	206	0.0097	-305	c.189 others(19): Show c.1892+1302_1892+1606del	PIK3CB	ENSG00000051382.9	transcript	ENST00000674063.1	protein_coding	14/23			chr3	TogoVar
RASGEF1C_chr5_180095795_180214211	180113339	GGACCGGG others(298): Show GGACCGGGGATGGACTGAGGGATCCGGGATGGACGGAGGGACCGGGGATG GACGGAGGGACCGGGGATGGACGGAGGGATCGGGGATGGATGGAGGGATC CGGGATGGACGGAGGGACCGGGGATGGACGGAGTGACCGGGGATGGACGG AGGGACCGGGGATGGACGGAGGGATCGGGGATGGACGGAGGGACCGGGGA TGGACGGAGGGATCCGGGATGGACGGAGGGACCGGGGATGGACGGAGGGA TCGGGGATGGACGGAGGGATCGGGGATGGACGGAGGGATCCGGGGATGGA CGGAGT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03540.hp2 NA19066.hp2 HG02809.hp2 HG03540.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0211 a0001c0001t0001g0320 a0001c0001t0011g0090 a0001c0001t0001g0211 a0001c0001t0001g0320 a0001c0001t0011g0090	3	370	0.0081	-305	c.117 others(18): Show c.1179+802_1179+1106del	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	11/13			chr5	TogoVar
RASGEF1C_chr5_180095795_180214211	180113410	CGGAGGGA others(298): Show CGGAGGGATCGGGGATGGATGGAGGGATCCGGGATGGACGGAGGGACCGG GGATGGACGGAGTGACCGGGGATGGACGGAGGGACCGGGGATGGACGGAG GGATCGGGGATGGACGGAGGGACCGGGGATGGACGGAGGGATCCGGGATG GACGGAGGGACCGGGGATGGACGGAGGGATCGGGGATGGACGGAGGGATC GGGGATGGACGGAGGGATCCGGGGATGGACGGAGTGACCGGGGATGGACG GAGGGACCGGGGATGGATGGAGGGATCGGGGATGGACGGAGGGATCGGGG ATGGAT	C C	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19012.hp1 NA18968.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0152 a0001c0001t0009g0074 a0001c0001t0002g0152 a0001c0001t0009g0074	2	370	0.0054	-305	c.117 others(18): Show c.1179+731_1179+1035del	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	11/13			chr5	TogoVar
REST_chr4_56902900_56940844	56917940	TACTCAGG others(298): Show TACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCATAGCT TGCAGTGAGCCGAGATCTCACCAGTGCACTCCAGCATGGGCAACAGAGTG AGACTCCGTCTCAAAAAAAAAAAAAAAAAGGCTTGTTTTGTTGTTGACAG CCATGTCTAAAAAGAATATACGTTTCCTACCTTTGAGTCTTAAATTCTTC AGTATTAAATCACTGGCCTCTAGTCTTCAGTCCCTGTGGCTTTTATAATT TGTTTTAAAAATTGATGACTGGTTGGGCATGGTGGCTCATGCCCGTAATC CCAGCA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18906.hp1 HG02258.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0227 a0002c0002t0014g0280 a0002c0002t0014g0227 a0002c0002t0014g0280	2	408	0.0049	-305	c.899 others(17): Show c.899-1846_899-1542del	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding	2/3			chr4	TogoVar
RRP12_chr10_97351701_97406340	97398048	TTTTTTTT others(298): Show TTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG01168.hp1 others(33): Show HG00408.hp1 HG00673.hp2 HG01168.hp1 HG01361.hp1 HG01993.hp2 HG02074.hp1 HG02109.hp1 HG02280.hp1 HG02451.hp2 HG02622.hp2 HG02683.hp1 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG04184.hp1 NA18939.hp1 NA18950.hp2 NA18953.hp1 NA18957.hp2 NA18974.hp1 NA18986.hp1 NA18995.hp2 NA19007.hp2 NA19010.hp1 NA19054.hp1 NA19056.hp2 NA19070.hp2 NA19085.hp1 NA19089.hp2 NA19091.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0008	a0001c0006 a0001c0007 a0001c0008 others(4): Show a0001c0006 a0001c0007 a0001c0008 a0001c0018 a0003c0002 a0005c0023 a0008c0017	a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 others(5): Show a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0008t0003 a0001c0018t0001 a0003c0002t0001 a0005c0023t0001 a0008c0017t0001	a0001c0006t0001g0249 a0001c0006t0001g0250 a0001c0007t0001g0246 others(29): Show a0001c0006t0001g0249 a0001c0006t0001g0250 a0001c0007t0001g0246 a0001c0007t0001g0247 a0001c0007t0001g0248 a0001c0008t0001g0214 a0001c0008t0001g0243 a0001c0008t0001g0244 a0001c0008t0003g0215 a0001c0018t0001g0014 a0003c0002t0001g0003 a0003c0002t0001g0015 a0003c0002t0001g0242 a0003c0002t0001g0251 a0003c0002t0001g0252 a0003c0002t0001g0253 a0003c0002t0001g0254 a0003c0002t0001g0255 a0003c0002t0001g0256 a0003c0002t0001g0257 a0003c0002t0001g0324 a0003c0002t0001g0325 a0003c0002t0001g0326 a0003c0002t0001g0327 a0003c0002t0001g0329 a0003c0002t0001g0330 a0003c0002t0001g0331 a0003c0002t0001g0338 a0003c0002t0001g0340 a0003c0002t0001g0341 a0005c0023t0001g0328 a0008c0017t0001g0258	36	400	0.0900	-305	c.369 others(17): Show c.369+1952_370-1748del	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33			chr10	TogoVar
SFN_chr1_26858149_26869456	26868920	AAAACCCC others(298): Show AAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGCGGCAT GCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAGAATCGTTTGA AAGTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCCACTGC AGCCTGGGTGACAGAGCGAGACTCTCTCTCAAAAAAAAAAAAAAAAAAAA AAAAGGCCGGGGGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGG CCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCGAAC ACTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	332	0.0030	-305	c.49 others(11): Show c.4962_*5266del	SFN	ENSG00000175793.12	transcript	ENST00000339276.6	protein_coding		4465		chr1	TogoVar
SHC2_chr19_411589_466033	423099	TCCTCCAG others(298): Show TCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCGCCCTGACCCTCACTCCC TGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCGCCCTGA CCCTCACTCCCTGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTCC TCCCGCCCTGACCCTCACTCCCTGGTCTCCGGCCCCTCCAGCTCCTGGTC CTGGGGGGTCCTCCCGCCCTGACCCTCACTCCCTGGTCTCCCGCCCCTCC AGCTCCTGGTCCTGGGGGGTCCTCCCGCCCTGACCCTCACTCCCTGGTCT CCCGCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG01071.hp2 others(31): Show HG00423.hp2 HG00558.hp2 HG01071.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02698.hp1 HG02698.hp2 HG03831.hp2 HG03942.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18960.hp2 NA18983.hp2 NA18988.hp2 NA18989.hp1 NA18995.hp1 NA19004.hp2 NA19009.hp1 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004	a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0083 others(29): Show a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0083 a0001c0002t0001g0087 a0001c0002t0001g0089 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0107 a0001c0002t0001g0140 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0172 a0001c0002t0003g0045 a0001c0002t0003g0085 a0001c0002t0003g0091 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0157 a0001c0002t0003g0173 a0001c0002t0003g0178 a0001c0002t0004g0088 a0001c0002t0004g0096 a0001c0002t0004g0106 a0001c0002t0004g0156	34	212	0.1604	-305	c.131 others(17): Show c.1310-948_1310-644del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	10/12			chr19	TogoVar
SLC66A2_chr18_79897420_79956653	79920839	AGGAGAGA others(298): Show AGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGG AACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAG AGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCA GAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGA CAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGT GAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAGGT CAGTGG	A A	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0124	1	352	0.0028	-305	c.392 others(17): Show c.392-1744_392-1440del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
STAT3_chr17_42308324_42393442	42332390	CAGCCGGG others(298): Show CAGCCGGGCATGGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGATCCGAG ATCACACCTCAGCACTCTAGCCTGGGTGATAGAGAAAGACTCCATCTCAA AAAAAAAAAAAAAAAAAAAAAGGCCGAGCGTGGTGGCTCACATCTGTAAT CCCAGCACTTTTGGAGGCCGGGGTGGGTGGATTACTGAGGTCAGGAGTTT TGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACA AAAATT	C C	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	302	0.0033	-305	c.104 others(17): Show c.1049+978_1050-860del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	10/23			chr17	TogoVar
TANC1_chr2_158963640_159237659	159233939	AGTGAGCC others(298): Show AGTGAGCCGAGATTGCACCACTGCACTCCAGCGCAAGTCTCAAAAAAAAA AAAAGAAAGAAAGAAAAGCAAAATACCTTAACACTTATTTTAAAAAATGC CTTTTTGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCAAGGTGGGCGGATCACAAGGTCAGGAGATGGAGACCCTCCTGGCTA ACACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGT GTGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCAGGAG AATGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02622.hp1 HG02647.hp1 others(7): Show HG02109.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02886.hp2 HG02895.hp2 HG02970.hp1 HG03516.hp2 NA18522.hp2 NA19240.hp2	a0001 a0005 a0011 others(1): Show a0001 a0005 a0011 a0015	a0001c0001 a0005c0005 a0011c0031 others(1): Show a0001c0001 a0005c0005 a0011c0031 a0015c0024	a0001c0001t0004 a0001c0001t0006 a0005c0005t0004 others(3): Show a0001c0001t0004 a0001c0001t0006 a0005c0005t0004 a0005c0005t0006 a0011c0031t0006 a0015c0024t0004	a0001c0001t0004g0001 a0001c0001t0004g0125 a0001c0001t0004g0126 others(7): Show a0001c0001t0004g0001 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0006g0227 a0001c0001t0006g0228 a0001c0001t0006g0256 a0005c0005t0004g0225 a0005c0005t0006g0254 a0011c0031t0006g0005 a0015c0024t0004g0127	10	258	0.0388	-305	c.29 others(11): Show c.2928_*3232del	TANC1	ENSG00000115183.15	transcript	ENST00000263635.8	protein_coding		1281		chr2	TogoVar
TRDN_chr6_123211339_123641950	123442271	ATCTACCT others(298): Show ATCTACCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGG ATCACGAGGTCAGGGGATCGAGACCATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTGATGGTGGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC TGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCCGCCT GGGCCACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAAAA AAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01106.hp1 HG01109.hp2 others(28): Show HG00558.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01496.hp1 HG01981.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 NA18522.hp2 NA19043.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0009 a0012 a0013 a0015 a0018 a0023 a0024 a0027	a0001c0001 a0002c0004 a0003c0003 others(10): Show a0001c0001 a0002c0004 a0003c0003 a0004c0007 a0005c0006 a0009c0011 a0012c0013 a0013c0016 a0015c0015 a0018c0029 a0023c0031 a0024c0032 a0027c0025	a0001c0001t0001 a0001c0001t0006 a0002c0004t0006 others(22): Show a0001c0001t0001 a0001c0001t0006 a0002c0004t0006 a0002c0004t0019 a0002c0004t0020 a0002c0004t0021 a0003c0003t0004 a0004c0007t0001 a0004c0007t0002 a0004c0007t0004 a0004c0007t0008 a0004c0007t0010 a0005c0006t0001 a0005c0006t0002 a0005c0006t0003 a0009c0011t0012 a0012c0013t0002 a0012c0013t0003 a0013c0016t0010 a0015c0015t0001 a0015c0015t0006 a0018c0029t0006 a0023c0031t0002 a0024c0032t0011 a0027c0025t0001	a0001c0001t0001g0106 a0001c0001t0006g0089 a0002c0004t0006g0016 others(28): Show a0001c0001t0001g0106 a0001c0001t0006g0089 a0002c0004t0006g0016 a0002c0004t0006g0103 a0002c0004t0019g0022 a0002c0004t0020g0144 a0002c0004t0021g0147 a0003c0003t0004g0134 a0004c0007t0001g0017 a0004c0007t0002g0004 a0004c0007t0004g0003 a0004c0007t0004g0104 a0004c0007t0008g0149 a0004c0007t0010g0145 a0005c0006t0001g0046 a0005c0006t0001g0091 a0005c0006t0001g0092 a0005c0006t0001g0101 a0005c0006t0001g0128 a0005c0006t0002g0040 a0005c0006t0003g0082 a0009c0011t0012g0098 a0012c0013t0002g0069 a0012c0013t0003g0027 a0013c0016t0010g0146 a0015c0015t0001g0002 a0015c0015t0006g0020 a0018c0029t0006g0093 a0023c0031t0002g0009 a0024c0032t0011g0100 a0027c0025t0001g0105	31	152	0.2040	-305	c.932 others(17): Show c.932-3573_932-3269del	TRDN	ENSG00000186439.15	transcript	ENST00000334268.9	protein_coding	10/40			chr6	TogoVar
TRIM46_chr1_155168849_155189970	155188930	CCGGCCTG others(298): Show CCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTG GAGCCCGGGGGCCGGCCTGGTGTCCGGTGCCGAGGTGACACCGTGGGCTG GGGGGGCGGTGGAGCCCGGAGCCGGTCTGTTGTCCGGGGCCGAGGTGACA CCGTGTGCTGGAGTGTCGGTGGAGCCCGAGGCCGGCCTGGTGTCCGGGGC CGAGGTGACACTGTGAGCTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGG CCTGCTCTCTGTTTTAAATATACACCGTGGGCTGCGGGCGCGGTGGAGCC CGGGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00609.hp1 others(33): Show HG00099.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG00735.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG02071.hp2 HG02074.hp1 HG02735.hp1 HG02895.hp1 HG02976.hp2 HG03225.hp2 HG03688.hp1 HG03710.hp2 HG04115.hp2 HG04204.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp2 NA18948.hp1 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA19030.hp1 NA19043.hp1 NA19067.hp2 NA19074.hp1 NA19087.hp1 NA20129.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0005c0009	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0003t0005 a0001c0006t0001 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0033 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0033 a0001c0001t0001g0077 a0001c0001t0004g0035 a0001c0002t0001g0002 a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0003t0005g0009 a0001c0006t0001g0014 a0005c0009t0001g0001	36	348	0.1035	-305	c.47 others(11): Show c.4741_*5045del	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		3961		chr1	TogoVar
WDR64_chr1_241647281_241807777	241690842	ATTGTTAT others(298): Show ATTGTTATTTTTGTTATTCTTAACTTTTCTAACAGATAATTTGTTCAAAT AATAATGACAGCAATGTATTCAATTATATACACAATATATACACATATAA ACATATATGTATGTATATATGGTATATTTGCTATGTGTAAGCAAAATAAA TGACAGCAATAATACAAATAATGGAAGGAATTAGGATTTTTGTTTATTTT AATATACTTGTACTGCCTGTGTAGTACAGTGTTACTTGAAAGTGGACTTG GATTAGTTGTAAATGTATATTGCAAATGATAGGTCAACCACGAAAAATTG TTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19077.hp2 NA19082.hp2 NA18944.hp2 NA19077.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0028 a0001c0001t0004g0031 a0001c0002t0001g0068 a0001c0001t0001g0028 a0001c0001t0004g0031 a0001c0002t0001g0068	3	326	0.0092	-305	c.974 others(17): Show c.974+3248_974+3552del	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	8/27			chr1	TogoVar
WDSUB1_chr2_159230798_159291703	159233939	AGTGAGCC others(298): Show AGTGAGCCGAGATTGCACCACTGCACTCCAGCGCAAGTCTCAAAAAAAAA AAAAGAAAGAAAGAAAAGCAAAATACCTTAACACTTATTTTAAAAAATGC CTTTTTGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCAAGGTGGGCGGATCACAAGGTCAGGAGATGGAGACCCTCCTGGCTA ACACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGT GTGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCAGGAG AATGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02622.hp2 others(9): Show HG01891.hp2 HG02109.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG02970.hp1 HG03516.hp2 NA18522.hp1 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0116 a0003c0003t0002g0117 a0003c0003t0002g0118 others(9): Show a0003c0003t0002g0116 a0003c0003t0002g0117 a0003c0003t0002g0118 a0003c0003t0002g0119 a0003c0003t0002g0120 a0003c0003t0002g0121 a0003c0003t0002g0122 a0003c0003t0002g0123 a0003c0003t0002g0124 a0003c0003t0002g0125 a0003c0003t0002g0126 a0003c0003t0002g0127	12	252	0.0476	-305	c.17 others(11): Show c.1789_*2093del	WDSUB1	ENSG00000196151.11	transcript	ENST00000359774.9	protein_coding		1858		chr2	TogoVar
ABCG1_chr21_42214140_42302244	42283739	ACCCCCCA others(297): Show ACCCCCCACCTCTGTCCTGCCTGGACAGTTGTGAAGTACCCCCCAACCCA GATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTC CCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAG TTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCC GCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCC ACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTG GGGAC	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0295 a0001c0001t0013g0295	1	354	0.0028	-304	c.735 others(15): Show c.735-804_735-501del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283860	ACCCCCCC others(297): Show ACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAG ATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCC CCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAG TTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCC CGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCC ACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTG GGGAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02647.hp2 HG01884.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0272 a0001c0001t0004g0281 a0001c0001t0004g0272 a0001c0001t0004g0281	2	354	0.0057	-304	c.735 others(15): Show c.735-693_735-390del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ANHX_chr12_133213312_133240877	133224388	ATGGTGGC others(297): Show ATGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCGGGTG GATCCCTTGAGTTCAGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAAT GCTGTCTCTACTGAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGTGC CTGTAGTTCTACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCT TGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGACACTGCACTCTAGGCT GGGTGACAGACCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATGCT GGGCG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	442	0.0023	-304	c.113 others(18): Show c.1132+844_1132+1147del	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	7/9			chr12	TogoVar
ANHX_chr12_133213312_133240877	133224535	TGCCTGTA others(297): Show TGCCTGTAGTTCTACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAA CCTTGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGACACTGCACTCTAG GCTGGGTGACAGACCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAT GCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACAGGGT GAAACCCCGTCTCTACTAAAAAGTACAAAAAAATTAGCCAGGCGTGGTGG CGGGC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0296 a0002c0002t0003g0296	1	442	0.0023	-304	c.113 others(18): Show c.1132+697_1132+1000del	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	7/9			chr12	TogoVar
ANKRD11_chr16_89262630_89495561	89400373	ACGGTCAT others(297): Show ACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGC TGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTT CCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGG GGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCT GCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGC TTCCCTGCGCTGGGGGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTG GGGGC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0123 a0001c0022t0001g0123	1	310	0.0032	-304	c.-60 others(19): Show c.-60+17607_-60+17910del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ATP10A_chr15_25673712_25868327	25758458	TATCACCT others(297): Show TATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACT CATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC CTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGC TCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACC ACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATT CCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCG	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0030 a0030	a0030c0051 a0030c0051	a0030c0051t0001 a0030c0051t0001	a0030c0051t0001g0024 a0030c0051t0001g0024	1	300	0.0033	-304	c.654 others(19): Show c.654+22257_655-22318del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP5F1D_chr19_1236751_1249825	1247064	CGTGATCC others(297): Show CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCCAGGATTACAGGCATGAG CCACCGCGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAATC TCGTTTTGTCGCTCAGGCTGGAGTGCCCTGGCACGATCTGGGTTTATTGT AACCTCCGCCTCCCGCGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGT AGCTGGGACTACAGACACATGCCACCATGCCCAGCTAATTTTTGTATTTT TAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCTTG ACCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(79): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01167.hp2 HG01175.hp2 HG01358.hp1 HG01433.hp2 HG01943.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02602.hp1 HG02622.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02965.hp1 HG03041.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18944.hp2 NA18950.hp2 NA18952.hp1 NA18956.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18990.hp2 NA18997.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19063.hp1 NA19068.hp2 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 a0001c0001 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0006t0001 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0002g0001 a0001c0001t0008g0001 a0001c0001t0009g0001 a0001c0006t0001g0003 a0002c0003t0002g0004	82	412	0.1990	-304	c.26 others(11): Show c.2628_*2931del	ATP5F1D	ENSG00000099624.8	transcript	ENST00000215375.7	protein_coding		2240		chr19	TogoVar
ATP5F1D_chr19_1236751_1249825	1247096	CAGGATTA others(297): Show CAGGATTACAGGCATGAGCCACCGCGCCCGGCCTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAATCTCGTTTTGTCGCTCAGGCTGGAGTGCCCTGGC ACGATCTGGGTTTATTGTAACCTCCGCCTCCCGCGTTCAAGCGATTCTCC TGCCTCAGCCTCCTGAGTAGCTGGGACTACAGACACATGCCACCATGCCC AGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAG GCTGGTCTCAATCTCTTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAA GTGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	-304	c.26 others(11): Show c.2660_*2963del	ATP5F1D	ENSG00000099624.8	transcript	ENST00000215375.7	protein_coding		2272		chr19	TogoVar
ATP5F1D_chr19_1236751_1249825	1247097	AGGATTAC others(297): Show AGGATTACAGGCATGAGCCACCGCGCCCGGCCTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAATCTCGTTTTGTCGCTCAGGCTGGAGTGCCCTGGCA CGATCTGGGTTTATTGTAACCTCCGCCTCCCGCGTTCAAGCGATTCTCCT GCCTCAGCCTCCTGAGTAGCTGGGACTACAGACACATGCCACCATGCCCA GCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGG CTGGTCTCAATCTCTTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	412	0.0024	-304	c.26 others(11): Show c.2661_*2964del	ATP5F1D	ENSG00000099624.8	transcript	ENST00000215375.7	protein_coding		2273		chr19	TogoVar
B4GALNT4_chr11_364499_387117	384901	ACACAGCT others(297): Show ACACAGCTGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGC AAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCC CAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAAC CCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGG GCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACT CCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGA ACCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0017 a0017	a0017c0025 a0017c0025	a0017c0025t0001 a0017c0025t0001	a0017c0025t0001g0110 a0017c0025t0001g0110	1	184	0.0054	-304	c.31 others(11): Show c.3110_*3413del	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		2785		chr11	TogoVar
BTBD9_chr6_38163451_38644929	38166145	AGCACAGC others(297): Show AGCACAGCAGAACCCTCCACCTCCCCCACGCACAGCAGAGCCCTCCACCT CCCCCACGCACAGCAGAGCCCTCCACCTCCCCCACGTACAGCAGAACCCT CCACCTCCCCCCTGCGCACAGCAGAGCCCTCCACCTCCCCCACCACCGGC ACAGCAGAGCCCTCCACCTCCCCCACCACCGGCACAGCAGAGCCCTCCAC CTCCCCCCTCCGCACAGCAGAGCCCTCCACCTCCCCCTCTACCCACACAG CAGAGACCTCCACCTCCCCCCACCCGCACAGCAGAGCCCTCCACCTCCCC CCACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0167 a0001c0001t0167	a0001c0001t0167g0134 a0001c0001t0167g0134	1	224	0.0045	-304	c.85 others(11): Show c.8536_*8839del	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding		2305		chr6	TogoVar
CCDC87_chr11_66585176_66598063	66587894	TGGGGGGT others(297): Show TGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGG CCAGCCACCCCATCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCATCCGGGAGGTGAGGGGGTGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCTGGGAGGG AGGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18997.hp1 NA18962.hp1 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	2	386	0.0052	-304	c.22 others(11): Show c.2268_*2571del	CCDC87	ENSG00000182791.5	transcript	ENST00000333861.5	protein_coding		2281		chr11	TogoVar
CCR8_chr3_39324709_39338680	39325776	TCTTGAAC others(297): Show TCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGTTGAGATCATGCTGCTAC AGTCCAGCCTGGGCCACAGAGGAAGACTCTGTCTCAAAAAAAAAAAAAAA AAGAAAGGCCGGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGA GGCTGAGGCGGGTGGATCACCTGAGGTCATGAGTTAGAGACCAGCCTGGC CAACATGGTAAAACCCCGTTTCTACTAAAAATACCAAAAATTAGCCAGGT GTAGTGGCGGGCGCCTATAATCCCAGCTACTAGGGAGGCTGAGACAGGAG AATCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0033 a0002c0002t0003g0033	1	398	0.0025	-304	c.-40 others(11): Show c.-4067_-3764del	CCR8	ENSG00000179934.7	transcript	ENST00000326306.5	protein_coding		3932		chr3	TogoVar
COL18A1_chr21_45400165_45518720	45437624	GCACACAC others(297): Show GCACACACACTCACACAGGCACTCTCCTGCACACACACACACTCAGACAC ACAGGCACTCTCCTGCACACACACACACACACTCAGACACACAGGCACTC TCCTGCACACACACACTCACACACTCAGACACAGGCACTCTCCTGCACAC ACACACACTCACTCACACACAGACACACAGGCACTCTCCTGCACACACTC ACACTCAGACAAGCACTCTCCTGCACACACTCACACTCACACTCAGACAC ACAGGCACTCTCCTGCACACACACACTCACTCAGACACAGGCACTCTCCT GCACA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18612.hp2 HG00544.hp2 NA18612.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0001 a0001c0005t0002 a0001c0004t0001 a0001c0005t0002	a0001c0004t0001g0013 a0001c0005t0002g0217 a0001c0004t0001g0013 a0001c0005t0002g0217	2	292	0.0069	-304	c.107 others(19): Show c.107-30608_107-30305del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2C_chr10_269201_694668	424971	AGTGACTA others(297): Show AGTGACTAATACGACACGGATGATACAGCATGACCAGCGGTGACTAATAC GACACGGATGATACAGCATGACCAGCGGTGACTAATATGACACGGATGAT ACAGCATGACCAGCGGTGACTAATATGACACGGATGATACAGCATGACCA GCAGTGACTAATATGACACGGATGATACAGCATGACCAGCAGTGACTAAT ATGACACGGATGATACAGCATGACCAGCGGTGACTAATATGACACGGATG ATACAGCATGACCAGCGGTGACTAATATGACACGGATGATACAGCATGAC CAGCG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	88	0.0114	-304	c.395 others(17): Show c.395-2242_395-1939del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
EHMT1_chr9_137614005_137841127	137819311	CTGAGGGG others(297): Show CTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCC GACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTTAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAG ACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGG CCGAT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	170	0.0059	-304	c.354 others(19): Show c.3540+1197_3540+1500del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
ELL2_chr5_95880098_95966851	95927389	ATATATAG others(297): Show ATATATAGACATACACACACGTGTGTATATAGACATACACACACACGTGT GTATATAGACATACACACACACGTGTGTATATAGACATACACACACGTGT GTATATAGACATACACACACGTGTGTATATAGACATACACACACGTGTGT ATATAGACATACACACACACGTGTGTATATAGACATACACACACACGTGT GTATATAGACATACACACACACGTGTGTATATAGACATACACACACACGT GTGTATATAGACATACACACACACGTGTGTATATAGACATACACACACAC GTGTG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01496.hp1 HG01975.hp1 others(23): Show HG01168.hp1 HG01496.hp1 HG01975.hp1 HG02258.hp2 HG02523.hp2 HG02622.hp2 HG02647.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 NA18906.hp2 NA18951.hp2 NA18957.hp1 NA18961.hp2 NA18966.hp2 NA18975.hp1 NA18981.hp1 NA18989.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19070.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0004 a0001c0003t0005 a0001c0003t0024 others(1): Show a0001c0003t0004 a0001c0003t0005 a0001c0003t0024 a0001c0005t0010	a0001c0003t0004g0003 a0001c0003t0004g0004 a0001c0003t0004g0005 others(20): Show a0001c0003t0004g0003 a0001c0003t0004g0004 a0001c0003t0004g0005 a0001c0003t0004g0029 a0001c0003t0004g0033 a0001c0003t0004g0040 a0001c0003t0004g0041 a0001c0003t0004g0043 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0005g0030 a0001c0003t0005g0031 a0001c0003t0005g0032 a0001c0003t0005g0034 a0001c0003t0005g0035 a0001c0003t0005g0036 a0001c0003t0005g0038 a0001c0003t0005g0039 a0001c0003t0024g0037 a0001c0005t0010g0048 a0001c0005t0010g0049 a0001c0005t0010g0050	26	314	0.0828	-304	c.196 others(17): Show c.196-8148_196-7845del	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ERICH1_chr8_659200_736224	676116	TGAGGACA others(297): Show TGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGCCC CCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGGCGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAG ACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGA CAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGT GAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCC TCGGC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	378	0.0027	-304	c.305 others(17): Show c.305-2373_305-2070del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	676135	CCCCCTCG others(297): Show CCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGAC GCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGAC AGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGA GGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCT CGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGG CCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGC GGCGG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	378	0.0027	-304	c.305 others(17): Show c.305-2392_305-2089del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
FANCA_chr16_89732549_89821647	89745389	GAAACAGT others(297): Show GAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAG GGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCC TCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGA ACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGA AGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACT CCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGG GAACA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00597.hp2 others(30): Show HG00323.hp2 HG00438.hp1 HG00597.hp2 HG00621.hp1 HG01175.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02135.hp1 HG02165.hp2 HG02523.hp2 HG03491.hp2 HG03492.hp2 NA18612.hp2 NA18940.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18967.hp2 NA18968.hp1 NA18984.hp2 NA18990.hp2 NA18994.hp2 NA19002.hp1 NA19003.hp2 NA19062.hp2 NA19070.hp1 NA19074.hp1 NA19087.hp1	a0005 a0008 a0016 others(3): Show a0005 a0008 a0016 a0024 a0034 a0036	a0005c0005 a0008c0008 a0016c0019 others(3): Show a0005c0005 a0008c0008 a0016c0019 a0024c0040 a0034c0046 a0036c0045	a0005c0005t0001 a0005c0005t0014 a0008c0008t0001 others(4): Show a0005c0005t0001 a0005c0005t0014 a0008c0008t0001 a0016c0019t0001 a0024c0040t0001 a0034c0046t0001 a0036c0045t0001	a0005c0005t0001g0036 a0005c0005t0001g0064 a0005c0005t0001g0065 others(30): Show a0005c0005t0001g0036 a0005c0005t0001g0064 a0005c0005t0001g0065 a0005c0005t0001g0066 a0005c0005t0001g0067 a0005c0005t0001g0068 a0005c0005t0001g0181 a0005c0005t0001g0182 a0005c0005t0001g0183 a0005c0005t0001g0186 a0005c0005t0001g0187 a0005c0005t0001g0188 a0005c0005t0001g0189 a0005c0005t0001g0190 a0005c0005t0001g0191 a0005c0005t0001g0192 a0005c0005t0001g0194 a0005c0005t0001g0195 a0005c0005t0001g0197 a0005c0005t0001g0198 a0005c0005t0014g0196 a0008c0008t0001g0015 a0008c0008t0001g0016 a0008c0008t0001g0018 a0008c0008t0001g0019 a0008c0008t0001g0020 a0008c0008t0001g0021 a0008c0008t0001g0167 a0016c0019t0001g0108 a0016c0019t0001g0156 a0024c0040t0001g0017 a0034c0046t0001g0094 a0036c0045t0001g0185	33	334	0.0988	-304	c.351 others(17): Show c.3514-622_3514-319del	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	35/42			chr16	TogoVar
FAT3_chr11_92219818_92901473	92512831	TAAGATTA others(297): Show TAAGATTATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTG GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGC CACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCGTCTCAAAAAAAAA AAAAA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG00741.hp1 others(59): Show HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01169.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02080.hp2 HG02258.hp1 HG02280.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03927.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18986.hp1 NA19030.hp2 NA19060.hp2 NA19065.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(29): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0012 a0013 a0014 a0017 a0018 a0019 a0022 a0025 a0026 a0027 a0028 a0031 a0034 a0035 a0036 a0037 a0038 a0039 a0044 a0045 a0046 a0047 a0048 a0049	a0001c0002 a0001c0005 a0001c0014 others(48): Show a0001c0002 a0001c0005 a0001c0014 a0001c0025 a0001c0036 a0001c0051 a0001c0084 a0002c0001 a0002c0003 a0002c0013 a0002c0031 a0003c0010 a0003c0011 a0003c0019 a0003c0032 a0003c0041 a0004c0009 a0004c0012 a0004c0046 a0004c0049 a0004c0062 a0005c0004 a0006c0077 a0007c0008 a0008c0021 a0008c0044 a0012c0064 a0012c0065 a0013c0074 a0014c0071 a0017c0080 a0018c0082 a0019c0083 a0022c0018 a0025c0045 a0026c0040 a0027c0047 a0028c0033 a0031c0054 a0034c0024 a0035c0085 a0036c0034 a0037c0059 a0038c0058 a0039c0057 a0044c0015 a0045c0066 a0046c0067 a0047c0068 a0048c0069 a0049c0070	a0001c0002t0053 a0001c0002t0078 a0001c0002t0079 others(57): Show a0001c0002t0053 a0001c0002t0078 a0001c0002t0079 a0001c0005t0018 a0001c0005t0065 a0001c0014t0034 a0001c0014t0036 a0001c0025t0011 a0001c0036t0016 a0001c0051t0088 a0001c0084t0014 a0002c0001t0038 a0002c0003t0003 a0002c0003t0007 a0002c0003t0068 a0002c0003t0076 a0002c0013t0051 a0002c0031t0007 a0003c0010t0026 a0003c0011t0005 a0003c0019t0058 a0003c0032t0013 a0003c0041t0002 a0004c0009t0001 a0004c0012t0002 a0004c0012t0004 a0004c0046t0001 a0004c0049t0013 a0004c0062t0059 a0005c0004t0006 a0005c0004t0042 a0006c0077t0012 a0007c0008t0010 a0008c0021t0024 a0008c0044t0008 a0012c0064t0041 a0012c0065t0035 a0013c0074t0084 a0014c0071t0054 a0017c0080t0043 a0018c0082t0072 a0019c0083t0009 a0022c0018t0063 a0025c0045t0003 a0026c0040t0002 a0027c0047t0011 a0028c0033t0045 a0031c0054t0025 a0034c0024t0010 a0035c0085t0014 a0036c0034t0050 a0037c0059t0087 a0038c0058t0044 a0039c0057t0032 a0044c0015t0082 a0045c0066t0027 a0046c0067t0060 a0047c0068t0037 a0048c0069t0046 a0049c0070t0001	a0001c0002t0053g0090 a0001c0002t0078g0009 a0001c0002t0079g0003 others(59): Show a0001c0002t0053g0090 a0001c0002t0078g0009 a0001c0002t0079g0003 a0001c0005t0018g0088 a0001c0005t0065g0004 a0001c0014t0034g0062 a0001c0014t0036g0113 a0001c0025t0011g0076 a0001c0036t0016g0033 a0001c0051t0088g0016 a0001c0084t0014g0107 a0002c0001t0038g0032 a0002c0003t0003g0037 a0002c0003t0007g0103 a0002c0003t0068g0010 a0002c0003t0076g0008 a0002c0013t0051g0083 a0002c0031t0007g0030 a0003c0010t0026g0048 a0003c0011t0005g0053 a0003c0019t0058g0110 a0003c0032t0013g0109 a0003c0041t0002g0073 a0004c0009t0001g0070 a0004c0012t0002g0054 a0004c0012t0004g0044 a0004c0046t0001g0099 a0004c0049t0013g0080 a0004c0062t0059g0118 a0005c0004t0006g0060 a0005c0004t0006g0087 a0005c0004t0006g0111 a0005c0004t0042g0116 a0006c0077t0012g0081 a0007c0008t0010g0067 a0008c0021t0024g0101 a0008c0044t0008g0096 a0012c0064t0041g0086 a0012c0065t0035g0069 a0013c0074t0084g0014 a0014c0071t0054g0064 a0017c0080t0043g0084 a0018c0082t0072g0013 a0019c0083t0009g0106 a0022c0018t0063g0012 a0025c0045t0003g0078 a0026c0040t0002g0115 a0027c0047t0011g0063 a0028c0033t0045g0049 a0031c0054t0025g0040 a0034c0024t0010g0046 a0035c0085t0014g0108 a0036c0034t0050g0079 a0037c0059t0087g0015 a0038c0058t0044g0082 a0039c0057t0032g0094 a0044c0015t0082g0007 a0045c0066t0027g0057 a0046c0067t0060g0043 a0047c0068t0037g0085 a0048c0069t0046g0056 a0049c0070t0001g0031	62	118	0.5254	-304	c.329 others(21): Show c.3293-11793_3293-11490del	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
GALNT9_chr12_132191372_132334589	132305154	CGCCTGGG others(297): Show CGCCTGGGCACAGCCTCGCCCGGGCACACGCTCACCCAGACACACCCTTG CCCGGGCACACCCTCGCCCGGACACACCCTCACCCGGGCACAGAATCGCC CAGACACACCCTCACCGGGGCACACCCTCGCCCGGACACGCCCTCACCGG GGCACACCCTCACCCAGACACGCCCTCACCCAGACACGCCCTCACCCGGG CACACCCTCACCCGGGCACACCCTCACCCGGGCACATCCTCACCGGGGCA CACCCTCACCCGGGCACACCCTCACCCGGGCACAGAATCGCCCAGACACA GCCTG	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0066 a0001c0002t0005g0066	1	183	0.0055	-304	c.239 others(19): Show c.239-19028_239-18725del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GRIFIN_chr7_2469728_2481398	2472504	AAAAAAAA others(297): Show AAAAAAAAAAAAAAAAAAAAAAAGACTGGGCGTGGTGGTTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAAAAGGTCAGGAGAT CGAGACCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATATA AAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGGTTGCAGTGA GCCGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCCAGACTCCG TTTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG01891.hp1 others(9): Show HG01243.hp2 HG01884.hp1 HG01891.hp1 HG02280.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0008c0010t0001 a0001c0001t0001 a0008c0010t0001	a0001c0001t0001g0001 a0008c0010t0001g0017 a0001c0001t0001g0001 a0008c0010t0001g0017	12	380	0.0316	-304	c.20 others(11): Show c.2062_*2365del	GRIFIN	ENSG00000275572.2	transcript	ENST00000614228.2	protein_coding		2223		chr7	TogoVar
IBA57_chr1_228160804_228187257	228174208	GCTGTGGG others(297): Show GCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGC TGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTG TGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTG GGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGG CGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCG TGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTG GCTCC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG01081.hp2 others(11): Show HG00280.hp2 HG00741.hp2 HG01081.hp2 HG01109.hp2 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG02273.hp2 HG02886.hp1 HG03490.hp1 HG03492.hp2 HG03831.hp2 NA18997.hp2 NA20752.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0003 a0006c0010 a0002c0002 a0003c0003 a0006c0010	a0002c0002t0003 a0002c0002t0104 a0003c0003t0002 others(4): Show a0002c0002t0003 a0002c0002t0104 a0003c0003t0002 a0003c0003t0008 a0003c0003t0037 a0003c0003t0078 a0006c0010t0086	a0002c0002t0003g0055 a0002c0002t0104g0174 a0003c0003t0002g0027 others(8): Show a0002c0002t0003g0055 a0002c0002t0104g0174 a0003c0003t0002g0027 a0003c0003t0002g0029 a0003c0003t0002g0053 a0003c0003t0002g0068 a0003c0003t0002g0136 a0003c0003t0008g0027 a0003c0003t0037g0029 a0003c0003t0078g0053 a0006c0010t0086g0055	14	416	0.0337	-304	c.342 others(15): Show c.342-480_342-177del	IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
KDM5B_chr1_202719495_202813421	202721071	TTTTTGTA others(297): Show TTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGT CTTGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCTTCCCAAAGTGCTG GGATTACAGGCATGAGCCACCGCGCCCGGTGCGTCTTTTTTTTTTTTTTT TTTTTGAGATAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCA CGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCT GCCTCAGCCTCCCTAGTAACTGGGATTACAGGCATGTGCCACCACGCCCG GCTAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02723.hp2 HG03516.hp1 HG01891.hp2 HG02723.hp2 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0171 a0001c0005t0014g0172 a0001c0005t0014g0173 a0001c0005t0014g0171 a0001c0005t0014g0172 a0001c0005t0014g0173	3	382	0.0079	-304	c.76 others(11): Show c.7661_*7964del	KDM5B	ENSG00000117139.18	transcript	ENST00000367265.9	protein_coding		3423		chr1	TogoVar
KIAA1671_chr22_24947716_25202448	25000188	TTTTTTTT others(297): Show TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCGCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0025 a0025	a0025c0087 a0025c0087	a0025c0087t0020 a0025c0087t0020	a0025c0087t0020g0060 a0025c0087t0020g0060	1	254	0.0039	-304	c.-20 others(21): Show c.-207-25426_-207-25123del	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
LOC128462377_chr16_89312046_89423292	89400373	ACGGTCAT others(297): Show ACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGC TGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTT CCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGG GGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCT GCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGC TTCCCTGCGCTGGGGGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTG GGGGC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0024 a0001c0001t0000g0024	1	366	0.0027	-304	c.9+1 others(15): Show c.9+17607_9+17910del	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
MED15_chr22_20502610_20592619	20506162	AGCACTCC others(297): Show AGCACTCCAGTCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAAAAAAA TTAGTTTTGCCACCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGTAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCC TGGCCAACGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCA GGCATGGTGGGGTACGCTTGTAATCCCAGCTACTGGGGAAGCTGAGGTGG GAGAATTGCGTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGAGATGGCA CCACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0313 a0003c0005t0001g0313	1	341	0.0029	-304	c.-15 others(11): Show c.-1516_-1213del	MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding		1447		chr22	TogoVar
MIDN_chr19_1243583_1264143	1247064	CGTGATCC others(297): Show CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCCAGGATTACAGGCATGAG CCACCGCGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAATC TCGTTTTGTCGCTCAGGCTGGAGTGCCCTGGCACGATCTGGGTTTATTGT AACCTCCGCCTCCCGCGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGT AGCTGGGACTACAGACACATGCCACCATGCCCAGCTAATTTTTGTATTTT TAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCTTG ACCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp1 others(77): Show HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01358.hp2 HG01433.hp2 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02602.hp2 HG02622.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18962.hp1 NA18966.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18990.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19057.hp1 NA19063.hp2 NA19067.hp1 NA19070.hp2 NA19081.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0018	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(36): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0034 a0001c0001t0047 a0001c0001t0050 a0001c0001t0052 a0001c0001t0099 a0001c0001t0100 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0001c0002t0014 a0001c0002t0016 a0001c0002t0019 a0001c0002t0029 a0001c0002t0051 a0001c0002t0062 a0001c0003t0003 a0001c0003t0006 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0013 a0001c0003t0026 a0001c0003t0031 a0001c0003t0038 a0001c0003t0093 a0001c0006t0043 a0001c0006t0044 a0001c0018t0006	a0001c0001t0002g0002 a0001c0001t0004g0002 a0001c0001t0014g0008 others(62): Show a0001c0001t0002g0002 a0001c0001t0004g0002 a0001c0001t0014g0008 a0001c0001t0019g0003 a0001c0001t0019g0012 a0001c0001t0020g0003 a0001c0001t0020g0008 a0001c0001t0020g0018 a0001c0001t0020g0089 a0001c0001t0021g0005 a0001c0001t0025g0008 a0001c0001t0025g0087 a0001c0001t0026g0003 a0001c0001t0026g0027 a0001c0001t0034g0008 a0001c0001t0034g0018 a0001c0001t0047g0008 a0001c0001t0050g0003 a0001c0001t0052g0003 a0001c0001t0052g0054 a0001c0001t0099g0027 a0001c0001t0100g0003 a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0015 a0001c0002t0001g0023 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0131 a0001c0002t0001g0154 a0001c0002t0005g0005 a0001c0002t0007g0135 a0001c0002t0007g0136 a0001c0002t0008g0078 a0001c0002t0011g0005 a0001c0002t0011g0015 a0001c0002t0012g0024 a0001c0002t0012g0124 a0001c0002t0014g0092 a0001c0002t0016g0005 a0001c0002t0019g0019 a0001c0002t0029g0005 a0001c0002t0051g0080 a0001c0002t0062g0001 a0001c0003t0003g0014 a0001c0003t0006g0011 a0001c0003t0006g0034 a0001c0003t0006g0035 a0001c0003t0006g0048 a0001c0003t0006g0107 a0001c0003t0006g0112 a0001c0003t0008g0011 a0001c0003t0008g0110 a0001c0003t0008g0111 a0001c0003t0009g0013 a0001c0003t0010g0011 a0001c0003t0013g0013 a0001c0003t0026g0014 a0001c0003t0031g0014 a0001c0003t0038g0104 a0001c0003t0038g0106 a0001c0003t0093g0108 a0001c0006t0043g0114 a0001c0006t0044g0036 a0001c0018t0006g0049	80	418	0.1914	-304	c.-20 others(11): Show c.-2003_-1700del	MIDN	ENSG00000167470.14	transcript	ENST00000682408.1	protein_coding		1518		chr19	TogoVar
MIDN_chr19_1243583_1264143	1247096	CAGGATTA others(297): Show CAGGATTACAGGCATGAGCCACCGCGCCCGGCCTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAATCTCGTTTTGTCGCTCAGGCTGGAGTGCCCTGGC ACGATCTGGGTTTATTGTAACCTCCGCCTCCCGCGTTCAAGCGATTCTCC TGCCTCAGCCTCCTGAGTAGCTGGGACTACAGACACATGCCACCATGCCC AGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAG GCTGGTCTCAATCTCTTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAA GTGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0044 a0001c0006t0044	a0001c0006t0044g0036 a0001c0006t0044g0036	1	418	0.0024	-304	c.-19 others(11): Show c.-1971_-1668del	MIDN	ENSG00000167470.14	transcript	ENST00000682408.1	protein_coding		1486		chr19	TogoVar
MIDN_chr19_1243583_1264143	1247097	AGGATTAC others(297): Show AGGATTACAGGCATGAGCCACCGCGCCCGGCCTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAATCTCGTTTTGTCGCTCAGGCTGGAGTGCCCTGGCA CGATCTGGGTTTATTGTAACCTCCGCCTCCCGCGTTCAAGCGATTCTCCT GCCTCAGCCTCCTGAGTAGCTGGGACTACAGACACATGCCACCATGCCCA GCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGG CTGGTCTCAATCTCTTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0003 a0001c0001t0025g0003	1	418	0.0024	-304	c.-19 others(11): Show c.-1970_-1667del	MIDN	ENSG00000167470.14	transcript	ENST00000682408.1	protein_coding		1485		chr19	TogoVar
MINK1_chr17_4828340_4903061	4830345	CAAAGTGC others(297): Show CAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCTTTTTTTTTT TTTTTTTTTTTGAGACGTTGTCTTGCTCTGTCACCCAGGCTGGAGTGCAG TGGCACGTTCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATT CTTCTGCATCGGCATCCCGAATAGCTGGGATTACAGGCGCCTGCCACCAT GCCCGGCTAATTTTTGTATTTTTAGTAGAGACATGGTTTCACCATGTTGT CCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCGTCTCGGCCT CCCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(223): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18983.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19081.hp1 NA19084.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0007 a0010 a0011	a0001c0001 a0001c0004 a0001c0005 others(15): Show a0001c0001 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0014 a0001c0017 a0001c0018 a0002c0002 a0002c0010 a0002c0012 a0004c0006 a0005c0009 a0005c0023 a0006c0025 a0007c0024 a0010c0019 a0011c0022	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(55): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0004t0006 a0001c0004t0019 a0001c0005t0002 a0001c0005t0006 a0001c0005t0008 a0001c0005t0022 a0001c0005t0049 a0001c0005t0054 a0001c0008t0002 a0001c0011t0041 a0001c0014t0009 a0001c0017t0002 a0001c0018t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0014 a0002c0002t0015 a0002c0002t0020 a0002c0002t0040 a0002c0010t0015 a0002c0012t0001 a0002c0012t0004 a0004c0006t0012 a0005c0009t0044 a0005c0009t0053 a0005c0023t0009 a0006c0025t0005 a0007c0024t0006 a0010c0019t0001 a0011c0022t0004	a0001c0001t0002g0004 a0001c0001t0002g0129 a0001c0001t0002g0137 others(218): Show a0001c0001t0002g0004 a0001c0001t0002g0129 a0001c0001t0002g0137 a0001c0001t0002g0154 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0004g0181 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0282 a0001c0001t0005g0001 a0001c0001t0005g0086 a0001c0001t0005g0090 a0001c0001t0005g0094 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0167 a0001c0001t0005g0210 a0001c0001t0005g0238 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0005g0243 a0001c0001t0007g0084 a0001c0001t0007g0087 a0001c0001t0007g0093 a0001c0001t0007g0099 a0001c0001t0007g0102 a0001c0001t0007g0103 a0001c0001t0007g0104 a0001c0001t0007g0105 a0001c0001t0007g0106 a0001c0001t0007g0119 a0001c0001t0007g0126 a0001c0001t0008g0083 a0001c0001t0008g0101 a0001c0001t0008g0118 a0001c0001t0008g0127 a0001c0001t0009g0208 a0001c0001t0009g0209 a0001c0001t0009g0211 a0001c0001t0009g0212 a0001c0001t0009g0213 a0001c0001t0009g0214 a0001c0001t0009g0215 a0001c0001t0009g0218 a0001c0001t0009g0219 a0001c0001t0012g0108 a0001c0001t0014g0195 a0001c0001t0014g0251 a0001c0001t0016g0223 a0001c0001t0016g0224 a0001c0001t0016g0225 a0001c0001t0016g0226 a0001c0001t0017g0003 a0001c0001t0017g0091 a0001c0001t0017g0113 a0001c0001t0017g0124 a0001c0001t0018g0128 a0001c0001t0018g0172 a0001c0001t0018g0286 a0001c0001t0020g0148 a0001c0001t0023g0244 a0001c0001t0023g0245 a0001c0001t0023g0252 a0001c0001t0024g0205 a0001c0001t0024g0207 a0001c0001t0025g0133 a0001c0001t0025g0138 a0001c0001t0025g0139 a0001c0001t0029g0178 a0001c0001t0030g0085 a0001c0001t0030g0098 a0001c0001t0032g0191 a0001c0001t0043g0161 a0001c0001t0046g0197 a0001c0001t0047g0130 a0001c0001t0048g0095 a0001c0001t0050g0131 a0001c0001t0051g0217 a0001c0001t0052g0134 a0001c0001t0055g0198 a0001c0001t0056g0256 a0001c0004t0006g0136 a0001c0004t0006g0341 a0001c0004t0006g0350 a0001c0004t0019g0349 a0001c0005t0002g0150 a0001c0005t0006g0233 a0001c0005t0008g0227 a0001c0005t0008g0228 a0001c0005t0008g0229 a0001c0005t0008g0230 a0001c0005t0008g0231 a0001c0005t0008g0232 a0001c0005t0008g0235 a0001c0005t0008g0236 a0001c0005t0022g0149 a0001c0005t0022g0151 a0001c0005t0022g0221 a0001c0005t0049g0234 a0001c0005t0054g0206 a0001c0008t0002g0156 a0001c0008t0002g0157 a0001c0008t0002g0158 a0001c0011t0041g0347 a0001c0014t0009g0216 a0001c0017t0002g0192 a0001c0018t0004g0333 a0002c0002t0001g0005 a0002c0002t0001g0254 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0281 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0298 a0002c0002t0001g0300 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0327 a0002c0002t0002g0304 a0002c0002t0004g0140 a0002c0002t0004g0141 a0002c0002t0004g0142 a0002c0002t0004g0143 a0002c0002t0004g0145 a0002c0002t0004g0240 a0002c0002t0004g0259 a0002c0002t0004g0266 a0002c0002t0004g0267 a0002c0002t0004g0268 a0002c0002t0004g0274 a0002c0002t0004g0275 a0002c0002t0014g0292 a0002c0002t0014g0307 a0002c0002t0014g0318 a0002c0002t0014g0322 a0002c0002t0015g0269 a0002c0002t0015g0280 a0002c0002t0015g0295 a0002c0002t0015g0324 a0002c0002t0015g0325 a0002c0002t0020g0299 a0002c0002t0020g0312 a0002c0002t0040g0146 a0002c0010t0015g0296 a0002c0010t0015g0301 a0002c0012t0001g0153 a0002c0012t0004g0188 a0004c0006t0012g0100 a0004c0006t0012g0112 a0004c0006t0012g0117 a0004c0006t0012g0125 a0005c0009t0044g0121 a0005c0009t0053g0204 a0005c0023t0009g0353 a0006c0025t0005g0147 a0007c0024t0006g0330 a0010c0019t0001g0260 a0011c0022t0004g0144	226	360	0.6278	-304	c.-32 others(11): Show c.-3238_-2935del	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding		2994		chr17	TogoVar
MUC5AC_chr11_1152953_1206138	1154781	CACTTATT others(297): Show CACTTATTCACTCATAGACTCATACACTCACTCATTCACTCACGCATCCA CTCATTCACTCACTCATTTACCCACTCACTCACTCACCCACTCACTTATT CACTCACTCACCCACTCACTTATTCACCCATTCACTCATTCATTCACCCA TTCACTCACTCACTTATTCACTCACTCTCTCACTCATTCATTAATTCGCC CATTCACTCACACTTTCACTCACTCACTTATTCACTCATACACTCATTCA CTTATTTACTCACTCATTCACTCACTCATTAATTCACCCATTCACTCACT CACTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0014 a0014	a0014c0077 a0014c0077	a0014c0077t0001 a0014c0077t0001	a0014c0077t0001g0049 a0014c0077t0001g0049	1	292	0.0034	-304	c.-32 others(11): Show c.-3218_-2915del	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding		3171		chr11	TogoVar
PDCD6_chr5_266646_319974	302191	CTGTGTGT others(297): Show CTGTGTGTGTGTGTGTGTGTGTATGCCTCGGGTTCAGGTGCACCTGCCTT TGTGGTAAGAGCACAGCTTCCCTGCATAACTGCTGGAGGGCGGGTCATCG AGTGCTGCTGTGTGTGTGGGCCTCAGGTTCAGGTGCACCTGCCTTTGTGG GAAGGGCACAGCTTCCCTGCATAACTGCTGGAGGGTGGGTCGTGGAGTGC TGCTCTGTGTGTATGCCTCAGGTTCAGGTGCACCTGCCTTTGTGGGGAGA GCACAGCTTCCCTGCATAACTGCTGGAGGGCGGGTCATGGAGTGCTGCTG CTGTG	C C	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	360	0.0028	-304	c.164 others(17): Show c.164-1966_164-1663del	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE9A_chr21_42648621_42780509	42773669	CGGGTGCC others(297): Show CGGGTGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATGGAG TGAACCCAGGAGGCGGAGATTGCCGTGAGCCAAGATCGCGCCACTGCACT CCAGCCTGGGCAACAGAGCGAGACTTCGTCTCAAAAAATAAAAATAAATA AATAAGCCGGGCGCAGTGGCTCATGCCTGTAGTCCCAGCACTTTGGGAGG CCAAGGTGGACGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAAC ACGGTGAAACCCTTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTG GTGGT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18940.hp1 NA19068.hp2 others(1): Show HG00609.hp2 NA18940.hp1 NA19068.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0072 a0001c0003t0001g0197 a0001c0003t0001g0198 others(1): Show a0001c0003t0001g0072 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0199	4	324	0.0124	-304	c.176 others(19): Show c.1768+1161_1769-1296del	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr21	TogoVar

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