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
ANO1_chr11_70073317_70194530	70194356	ATGGATGG others(161): Show ATGGATGGATGGATGGATGGATTGGGTGAATGAATGGATGTGTGGATGGA TGGATGGATTGGGTGAATGAATGGATGTGTGGATGGATGGATGGATGGAT GGTGGATGAATGGATGGATGGTAGATGAATGGATGGATGGATGGATGAAT GGATGGATGGATGGATGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0302 a0001c0004t0007g0302	1	302	0.0033	-168	c.63 others(11): Show c.6353_*6520del	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding		4827		chr11	TogoVar
ANO9_chr11_412938_447011	414104	TTCCCCTG others(161): Show TTCCCCTGCACCCTCTCCTCTGCCTACCTTCCCCTGCACCCTCTCCCCTC CCCACCTTTCCCTGCACCCTCTCCCCTGCACACCTTCCCCTGCACCCTCT CCTCTGCCTACCTTCCCCTGCACCCTCTCCCCTCCCCACCTTTCCCTGCA CACCTTCCCCTGCACCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	286	0.0035	-168	c.40 others(11): Show c.4099_*4266del	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding		3833		chr11	TogoVar
AQP12A_chr2_240686866_240703483	240693786	ATCTCTCT others(161): Show ATCTCTCTCTGTCTCTCCTCTCTCTCTCTGTCTCTCCTCTCTCTCTCTGT CTCTCCTCTCTCTCTCTGTCTCTCCTCTCTCTCTCTGTCTCTCCTCTCTC TCTGTCTCCCTGTCTCTCTCTGTCTCTCCTCTCTCTCTCTGTCTCTCCTC TCTCTCTCTGTCTCTCCTC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0002 a0016c0017t0002	a0016c0017t0002g0025 a0016c0017t0002g0025	1	171	0.0059	-168	c.572 others(15): Show c.572-582_572-415del	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP20_chr11_110572043_110717437	110618874	ATATGCAG others(161): Show ATATGCAGTGATAGAGTATATGCAGTGGTAGAGTATATGCAGTGATAGAG TATATGCAGTGATAGAGTATATGCAGTGAGAGTGTATGCAGTGATAGAGT ATATGCAGTGATAGCATATATGTAGTGATAGAGTGTATGCAGTGATAGAG TGTATGCAGTGATAGAGTG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0020 a0007c0020t0020	a0007c0020t0020g0149 a0007c0020t0020g0149	1	226	0.0044	-168	c.504 others(17): Show c.504-3448_504-3281del	ARHGAP20	ENSG00000137727.13	transcript	ENST00000683387.1	protein_coding	4/14			chr11	TogoVar
ARHGAP24_chr4_85470150_86007666	85875186	TTTATCTT others(161): Show TTTATCTTATATATTATATTATATATAATATATTTATCTTATATATTATA TTATATATAATATATTTATCTTATATATTATATTATATATAATATATTTA TCTTATATATTATATTATATATAATATATTTATCTTATATATTATATTAT ATATAATATATTTATCTTA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02486.hp1 HG01167.hp2 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0007 a0001c0007t0003 a0001c0002t0007 a0001c0007t0003	a0001c0002t0007g0056 a0001c0007t0003g0044 a0001c0002t0007g0056 a0001c0007t0003g0044	2	108	0.0185	-168	c.269 others(19): Show c.269-48460_269-48293del	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
ASAP1_chr8_130047104_130448674	130049029	AGAACACA others(161): Show AGAACACACTGGGGGGGCGCAGAGGAGAACACATTGGGGGGCGCAGAGGA GAATACATGGGGGGGCAGAGAATACATGGGGTGCAGAGAACACATGGGGG GCAGAAGAGAACACGGGGGGCAGATGAGAACACATGGGGGGCAGAGGGGA ACACATGGGGGGCAGAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01167.hp2 HG02615.hp1 others(3): Show HG00099.hp1 HG01167.hp2 HG02615.hp1 HG02886.hp2 HG02970.hp1 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0010 a0001c0001 a0001c0005 a0003c0010	a0001c0001t0001 a0001c0001t0008 a0001c0005t0007 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0005t0007 a0003c0010t0019	a0001c0001t0001g0016 a0001c0001t0001g0245 a0001c0001t0008g0011 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0245 a0001c0001t0008g0011 a0001c0005t0007g0002 a0001c0005t0007g0003 a0003c0010t0019g0287	6	308	0.0195	-168	c.55 others(11): Show c.5534_*5701del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		3074		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130415214	AACTACAG others(161): Show AACTACAGGGTAATTCAGGCTGAGGCAGAAGGATAGCTTGAGGCTAGGAG TTCAAGACCAGCCTAGGCAATATAGTGAGACTTCATCTCTAAAAAAATTT AAAAACTAGTGGGGTGTGGTGGTATACACCTATAGTCCCAGCTACTCTGG AGGCTGAAGCAGGAGGATC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03139.hp1 HG01496.hp2 HG03139.hp1	a0001 a0004 a0001 a0004	a0001c0009 a0004c0012 a0001c0009 a0004c0012	a0001c0009t0001 a0004c0012t0027 a0001c0009t0001 a0004c0012t0027	a0001c0009t0001g0232 a0004c0012t0027g0233 a0001c0009t0001g0232 a0004c0012t0027g0233	2	308	0.0065	-168	c.-27 others(19): Show c.-27-13412_-27-13245del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	1/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9406393	TCTCGTCT others(161): Show TCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCT GTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGG ACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0144 a0001c0004t0005g0144	1	210	0.0048	-168	c.30 others(11): Show c.3067_*3234del	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		716		chr2	TogoVar
ATP10A_chr15_25673712_25868327	25757872	CCACCTGC others(161): Show CCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTC CACCCTAACTCATTCCGAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01934.hp2 HG00738.hp1 HG01934.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0095 a0003c0003t0001g0139 a0003c0003t0001g0095 a0003c0003t0001g0139	2	300	0.0067	-168	c.655 others(19): Show c.655-21899_655-21732del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758348	CCACCTGA others(161): Show CCACCTGATCCACCCTAACTCATTCCAATCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCT AACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTC CACCCTAACTCATTCCTAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01943.hp1 HG01074.hp1 HG01943.hp1	a0002 a0036 a0002 a0036	a0002c0074 a0036c0056 a0002c0074 a0036c0056	a0002c0074t0001 a0036c0056t0001 a0002c0074t0001 a0036c0056t0001	a0002c0074t0001g0112 a0036c0056t0001g0016 a0002c0074t0001g0112 a0036c0056t0001g0016	2	300	0.0067	-168	c.655 others(19): Show c.655-22375_655-22208del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50086740	TTTATTAT others(161): Show TTTATTATATATAAAATAATAGAGATCTATATTATTATATATAATAAAAT AATATAGAGATCTATATTTATTATATATAATAAAATAATAGAGATCTATA TTATTATATATAATAAAATAATATAGAGATCTATATTTATTATATATAAT AAAATAATAGAGATCTATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp1 HG02148.hp1 others(3): Show HG00558.hp2 HG00642.hp1 HG02148.hp1 HG03579.hp1 NA18951.hp1 NA18963.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0002 a0003c0003t0002 others(1): Show a0001c0001t0002 a0002c0002t0002 a0003c0003t0002 a0003c0003t0012	a0001c0001t0002g0006 a0002c0002t0002g0085 a0003c0003t0002g0003 others(3): Show a0001c0001t0002g0006 a0002c0002t0002g0085 a0003c0003t0002g0003 a0003c0003t0002g0027 a0003c0003t0012g0038 a0003c0003t0012g0045	6	254	0.0236	-168	c.29- others(17): Show c.29-12723_29-12556del	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
B4GALNT3_chr12_454939_568509	543392	GCTGAGGA others(161): Show GCTGAGGAGCTGGGGCGGGCATGGGGTGCTCATCTTCCCGGAGCTGAGGA GCTGGGGCGGGCATGGGGTGCTCATCTTCCTGGAGCTGAGGAGCTGGGAC GGGCATGGGGTGCTCATCCTCCTGGAACTGAGGAGCTGGGACGGGCATGG GGTGCTCATCCTCCTGGAA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0016 a0016	a0016c0032 a0016c0032	a0016c0032t0002 a0016c0032t0002	a0016c0032t0002g0006 a0016c0032t0002g0006	1	394	0.0025	-168	c.352 others(15): Show c.352-933_352-766del	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRSK2_chr11_1384934_1467689	1410207	ACAGAGTC others(161): Show ACAGAGTCCGTGTTTGGGGGGGTTTGTGACGTCGGCCTCGCAGAGCGGTG ACAGTTGCAGAGTCCGTGTTTGGGGGGGTTTGTGACGTCGGCCTCGCAGA GCGGTGACAGTTGCAGAGTCCGTGTTTGGGGGGGTTTGTGACGTCGGCCT CGCAGAGCGGTGACGGTCG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	360	0.0028	-168	c.91+ others(17): Show c.91+19908_91+20075del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C1QTNF8_chr16_1083226_1101244	1092320	GCTCAATC others(161): Show GCTCAATCAATCCCTGCACACAGTCGGCGCTCAATCAATCCCTGCACACA GTCGGGGCACAACCAATCCCTGCACACAGTCGGCGCTCAATCAATCACTG CACACAGTCGGCACTCAACCAATCACAGCACACAGTCGTCGCTCAACCAA TCACAGCACACAGTCGGCA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp1 NA18906.hp2 HG02622.hp2 HG02647.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0161 a0001c0003t0013g0162 a0001c0003t0013g0163 a0001c0003t0013g0161 a0001c0003t0013g0162 a0001c0003t0013g0163	3	396	0.0076	-168	c.4+ others(15): Show c.4+1009_*4+1176del	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
CABLES1_chr18_23130485_23265470	23218258	ACATCCTC others(161): Show ACATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGTTCCCGCATCC TCACTTGCCCTGCCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02027.hp2 HG01243.hp1 HG02027.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0056 a0002c0002t0006 a0001c0001t0056 a0002c0002t0006	a0001c0001t0056g0010 a0002c0002t0006g0127 a0001c0001t0056g0010 a0002c0002t0006g0127	2	278	0.0072	-168	c.108 others(19): Show c.1088+4342_1088+4509del	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218396	GTTCCCGC others(161): Show GTTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCC GCATCCTCACTTGCCCTGC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0119 a0002c0002t0019g0119	1	278	0.0036	-168	c.108 others(19): Show c.1088+4343_1088+4510del	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9			chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218444	CCTCCCGC others(161): Show CCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03579.hp1 HG00609.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0260 a0001c0001t0016g0190 a0001c0001t0001g0260 a0001c0001t0016g0190	2	278	0.0072	-168	c.108 others(19): Show c.1088+4438_1088+4605del	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CAMK1D_chr10_12344547_12840545	12775952	AGGTGAGA others(161): Show AGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAA GGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03225.hp1 HG01975.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0016 a0001c0001t0001 a0001c0002t0016	a0001c0001t0001g0130 a0001c0002t0016g0165 a0001c0001t0001g0130 a0001c0002t0016g0165	2	214	0.0094	-168	c.565 others(17): Show c.565+6155_565+6322del	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASZ1_chr1_10631604_10801646	10744344	CGGCACCA others(161): Show CGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGG GCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGC ACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCAC CACGAGCAGGCATGTCCTG	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03017.hp2 NA18522.hp2 others(1): Show HG02155.hp2 HG03017.hp2 NA18522.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0006 a0001c0002t0030 a0001c0003t0002 others(1): Show a0001c0001t0006 a0001c0002t0030 a0001c0003t0002 a0001c0009t0002	a0001c0001t0006g0214 a0001c0002t0030g0022 a0001c0003t0002g0084 others(1): Show a0001c0001t0006g0214 a0001c0002t0030g0022 a0001c0003t0002g0084 a0001c0009t0002g0049	4	236	0.0170	-168	c.-77 others(19): Show c.-77+16189_-77+16356del	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CFAP99_chr4_2413955_2468002	2442861	TGGCCTTG others(161): Show TGGCCTTGGGGGCAGGGAGCTCACTGGGGGTGCTGGGGGCCTTGGGGGCA GGGAGCTCACTGGGGTGCTGGGGGCCTTGGGGGGAGCCACTGGGGGTGCT GGGGGCCTTGGGGGCAGGGAGCTCACTGGGGTGCTGGGGGCCTTGGGGGG AGCCACTGGGGGTGCTGGG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp1 HG02109.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0302 a0001c0004t0001g0303 a0001c0004t0001g0302 a0001c0004t0001g0303	2	350	0.0057	-168	c.352 others(14): Show c.352-231_352-64del	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CHMP1A_chr16_89639435_89662708	89647774	AGACCCAG others(161): Show AGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGT CCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0031 a0001c0001t0011g0031	1	392	0.0026	-168	c.253 others(15): Show c.253-611_253-444del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648236	AGACCCAG others(161): Show AGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	392	0.0026	-168	c.252 others(15): Show c.252+947_253-906del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
COL18A1_chr21_45400165_45518720	45442739	CAGCGGGG others(161): Show CAGCGGGGCTGGTGTGGGCAGCGGTGCTGGTGTGGGCGGCGGTCCTGGTG TGGGCGGTGGTGGTGCTGGTGTGGGCGGAGGTCCTGGTGTGGGCGGCGGT CCTGGTGTGGGCGGAGGTCCTGGTGTGGGCGGTGGTGGTGCTGGTGTGGG CAGCGGTGCTGATGTGGGT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0112 a0001c0004t0001g0112	1	292	0.0034	-168	c.107 others(19): Show c.107-25502_107-25335del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41			chr21	TogoVar
COL5A1_chr9_134636803_134849843	134848923	GGGATCAC others(161): Show GGGATCACACCTCCCAGGGAGCACGGGATCACACCTCCCAGGGAGCATGG GATCACACCTCCCAGGGAGCACGGGATCACACCTCCCAGGGAGCACTGGA TCACACCTCCCAGGGAGCACCGGATCACACCTCCCAGGAACCACGATATC ACACCTCCCAGGAAGCACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	272	0.0037	-168	c.66 others(11): Show c.6621_*6788del	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4081		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849250	AGGAAGCA others(161): Show AGGAAGCACAGGATCACACCTCCCAGGAAGCACGGGATCACACCTCCCAG GAACCACAATATCACACCTCCCAGGAACCACGATATCACACCTCCCAGGA ACCACGATATCACACCTCCCAGGAACCACGATATCACACCTCCCAGGAAG CACGGGATCAGACCTCCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0260 a0001c0001t0008g0260	1	272	0.0037	-168	c.69 others(11): Show c.6948_*7115del	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4408		chr9	TogoVar
CTDP1_chr18_79674803_79759503	79745847	CCCCGCGT others(161): Show CCCCGCGTCCCTCCCGTGCGGGTTCTGTCCCCGCGTCCCTCCCGTGCGCG TTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCG TGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCC CTCCCGTGCGCGTTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA18950.hp1 NA18984.hp2 HG01192.hp1 NA18950.hp1 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0016 a0002c0002t0001 a0002c0002t0016	a0002c0002t0001g0240 a0002c0002t0001g0250 a0002c0002t0016g0299 a0002c0002t0001g0240 a0002c0002t0001g0250 a0002c0002t0016g0299	3	378	0.0079	-168	c.274 others(19): Show c.2748-7785_2748-7618del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79746071	GCCCGCGT others(161): Show GCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCG TTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCG TGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGGGTTCTGTCCCCGCGTCC CTCCCGTGCGCGTTCTGAC	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0028	1	378	0.0027	-168	c.274 others(19): Show c.2748-7553_2748-7386del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DLGAP2_chr8_732628_1713476	1103469	TTGATGAC others(161): Show TTGATGACTGGCGGGGCCTTGGTTGACGGTGATGACTGGCGGGGCCTTGG TTGACGGTGATGACTGGCGGGGCCTTGGTTGACGGTGATGACTGGCGGGG CCTTGGTTGACGGTGATGACTGGCGGGGCCTTGGTTGACGGTGATGACTG GCGGGGCCTTGGTTGACGG	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03486.hp1 HG02698.hp2 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0004 a0002c0001 a0002c0004	a0002c0001t0005 a0002c0004t0018 a0002c0001t0005 a0002c0004t0018	a0002c0001t0005g0035 a0002c0004t0018g0010 a0002c0001t0005g0035 a0002c0004t0018g0010	2	40	0.0500	-168	c.74- others(19): Show c.74-155202_74-155035del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1626193	GGGTGCTC others(161): Show GGGTGCTCAGCCTCTGGGTGTGGGTTGGACGGCTGTTCCCATCTCTACCC TGCAGCGGGTGCTCACCCTCTGGGTGTGGGTTGGACGGCTGTTCCCATCT CTGCCCTGTGGTGGGTGCTCAGCCTCTGGGTGTGGGTTGGACGGCTGTTC CCATCTCTACCCTGCAGCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03492.hp2 NA18906.hp2 HG01891.hp1 HG03492.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0022 a0001c0003t0024 a0001c0002t0002 a0001c0002t0022 a0001c0003t0024	a0001c0002t0002g0021 a0001c0002t0022g0034 a0001c0003t0024g0003 a0001c0002t0002g0021 a0001c0002t0022g0034 a0001c0003t0024g0003	3	40	0.0750	-168	c.144 others(17): Show c.1443-447_1443-280del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAJC21_chr5_34924559_34963964	34948264	GTACACCT others(161): Show GTACACCTAATGCACACGTTTTGGTTTTTAAGTTCACTTTTCCATGAAAA GGAAACAGGCTTGCTCTTTGGAGAAATACCTGATTTCAGGGCTGAGACTA GGAAAGTGGAACGTGAGCCTAGAGCATCTTATACTAGAAACTAAGGAAGT GCTCAAAAACTGATGGGGA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	428	0.0023	-168	c.118 others(19): Show c.1186-1902_1186-1735del	DNAJC21	ENSG00000168724.18	transcript	ENST00000648817.1	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
DNAJC5_chr20_63890126_63941011	63919816	CACATGTG others(161): Show CACATGTGCCCAGGGCCCGGGACAGCGCCATGGAAGAGGACGCACCCGGC TGTGTGCACATGTGCCCAGGGCCCGGGACAGCGCCACGGAAGAGGACGCA CCCGGCTGTGTGCACATGTGCCCAGGGCCCGGGACAGCGCCACGGAAGAG GATGCACCCGGCTGTGTGG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03453.hp2 HG02922.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0184 a0001c0001t0002g0176 a0001c0001t0002g0184	2	372	0.0054	-168	c.-11 others(17): Show c.-11-8489_-11-8322del	DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
DNLZ_chr9_136354483_136368744	136355371	CCTGGGGG others(161): Show CCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGG AGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTAG CCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGC CGAGGGTGGGTGACACGTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0052 a0001c0001t0032g0052	1	418	0.0024	-168	c.64 others(11): Show c.6473_*6640del	DNLZ	ENSG00000213221.5	transcript	ENST00000371738.4	protein_coding		4111		chr9	TogoVar
DOCK8_chr9_209865_470255	400024	TCCACCAT others(161): Show TCCACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCAC CATCACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCA TCTTCACCATCACCACCACCTCCACCATCACCACCACCACCACCTCCACC ATCACCACCTCCTTCACCA	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0145 a0003c0001t0001g0145	1	256	0.0039	-168	c.323 others(17): Show c.3234+766_3234+933del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47			chr9	TogoVar
DPP9_chr19_4670227_4728842	4671892	CATATATT others(161): Show CATATATTCACATATGTGAATATATATATTCATATATTCACATATGTGAA TATATATATTCATATATTCACATATGTGAATATATATATTCATATATTCA CATATGTGAATATATATATTCATATATTCACATATGTGAATATATATTCA TATATTCACATATGTGAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	314	0.0032	-168	c.45 others(11): Show c.4504_*4671del	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		3334		chr19	TogoVar
DVL1_chr1_1330278_1354418	1350755	CTGGACGG others(161): Show CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	344	0.0029	-168	c.-18 others(11): Show c.-1858_-1691del	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1338		chr1	TogoVar
EDDM13_chr19_56267748_56315454	56306297	CATCGCCA others(161): Show CATCGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGA TAGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGT ACTAAGGACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGT CCCCCCCGGCCTCTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00544.hp1 others(167): Show HG00280.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02896.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0002c0004 others(3): Show a0001c0001 a0001c0002 a0002c0004 a0003c0005 a0004c0008 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0002c0004t0001 a0003c0005t0001 a0004c0008t0001 a0005c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(146): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0342 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0350 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0166 a0001c0001t0002g0172 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0186 a0001c0001t0003g0208 a0001c0001t0004g0308 a0001c0001t0007g0304 a0001c0002t0001g0036 a0001c0002t0001g0037 a0002c0004t0001g0026 a0003c0005t0001g0277 a0004c0008t0001g0291 a0005c0006t0001g0097	170	396	0.4293	-168	c.461 others(17): Show c.461+1468_461+1635del	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	14/14			chr19	TogoVar
EDDM13_chr19_56267748_56315454	56306300	CGCCAGAG others(161): Show CGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGATAG CTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTACT AAGGACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTCCC CCCCGGCCTCTCCCCTGTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp2 HG01243.hp2 others(9): Show HG00639.hp1 HG01109.hp2 HG01243.hp2 HG02258.hp1 HG02559.hp1 HG02602.hp1 HG02965.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 NA18982.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0001g0095 a0001c0001t0001g0190 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0095 a0001c0001t0001g0190 a0001c0001t0001g0233 a0001c0001t0001g0323 a0001c0001t0001g0330 a0001c0001t0001g0349 a0001c0001t0001g0356 a0001c0001t0002g0105 a0001c0001t0002g0126 a0001c0001t0002g0168	12	396	0.0303	-168	c.461 others(17): Show c.461+1543_461+1710del	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
EDDM13_chr19_56267748_56315454	56306373	CTCTCCCA others(161): Show CTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCT TCCCTCGGTATCTGCAAAGAGGGTCCCCCCCGGCCTCTCCCCTGTTGCCA GAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGATAGCTACA AAGAGGCTCCTCCCTGGCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG02895.hp2 HG00323.hp2 HG00642.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0236 a0001c0001t0003g0322 a0001c0001t0003g0338 a0001c0001t0003g0236 a0001c0001t0003g0322 a0001c0001t0003g0338	3	396	0.0076	-168	c.461 others(17): Show c.461+1586_461+1753del	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
EDDM13_chr19_56267748_56315454	56306888	CGCCAGAG others(161): Show CGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTTGATAG CTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTACT AAGGACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTCCC CCCCGGCCTCTCCCCTGTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp1 HG01261.hp1 others(12): Show HG00544.hp2 HG00741.hp1 HG01261.hp1 HG01952.hp2 HG03654.hp1 HG03704.hp1 HG03834.hp2 HG04199.hp2 NA18952.hp2 NA18953.hp1 NA18961.hp1 NA18973.hp2 NA19056.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0286 a0001c0001t0003g0031 a0001c0001t0003g0197 others(11): Show a0001c0001t0001g0286 a0001c0001t0003g0031 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0213 a0001c0001t0003g0234 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0324 a0001c0001t0003g0344 a0001c0001t0003g0352 a0001c0001t0005g0106 a0001c0001t0005g0143	15	396	0.0379	-168	c.461 others(17): Show c.461+2090_461+2257del	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
EDDM13_chr19_56267748_56315454	56307004	CTTCTCTT others(161): Show CTTCTCTTCCCTCGGTATCTGCAAAGAGGGTCCCCCCCGGCCTCTCCCCT GTTGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGAT AGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTA CTAAGGACAGATGGGAGAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00544.hp1 others(180): Show HG00280.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02896.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0002c0004 others(3): Show a0001c0001 a0001c0002 a0002c0004 a0003c0005 a0004c0008 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0002c0004t0001 a0003c0005t0001 a0004c0008t0001 a0005c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(158): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0342 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0356 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0186 a0001c0001t0003g0208 a0001c0001t0004g0308 a0001c0001t0007g0304 a0001c0002t0001g0036 a0001c0002t0001g0037 a0002c0004t0001g0026 a0003c0005t0001g0277 a0004c0008t0001g0291 a0005c0006t0001g0097	183	396	0.4621	-168	c.461 others(17): Show c.461+2186_461+2353del	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELANE_chr19_847303_861243	853672	TTGTCAAT others(161): Show TTGTCAATCAACAAACTTACTGAGAAGGGAGGCCCCGATCTGTTGTCAAT CAACAAACTTACTGAGAAGGGAGGCCCCGATCTGCTGTCAATCAACAAAC TTACTGAGAAGGGAGGCCCCGATCTGTTGTCAATCAACAAACTTACTGAG AAGGGAGGCCCCGATCTGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG02257.hp1 others(25): Show HG01243.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02486.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG04115.hp2 NA18522.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0026 others(13): Show a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0012t0001g0044	28	403	0.0695	-168	c.366 others(15): Show c.366+462_366+629del	ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
EML1_chr14_99788413_99947060	99927972	ATGGTGGT others(161): Show ATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0093 a0002c0001t0002g0093	1	288	0.0035	-168	c.190 others(19): Show c.1909+7164_1909+7331del	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ENOSF1_chr18_665318_717630	666888	GGGAGATG others(161): Show GGGAGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATG GAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGT GATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGA TGGTGATGGTGATGGAGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG02083.hp2 HG02523.hp1 others(2): Show HG00609.hp2 HG02083.hp2 HG02523.hp1 HG02886.hp2 NA18993.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0002 a0001c0001t0038 a0003c0007t0002 a0001c0001t0002 a0001c0001t0038 a0003c0007t0002	a0001c0001t0002g0115 a0001c0001t0002g0166 a0001c0001t0002g0228 others(2): Show a0001c0001t0002g0115 a0001c0001t0002g0166 a0001c0001t0002g0228 a0001c0001t0038g0335 a0003c0007t0002g0354	5	418	0.0120	-168	c.72 others(11): Show c.7249_*7416del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3429		chr18	TogoVar
ERFL_chr19_41902704_41933449	41914623	ATCTCTGT others(161): Show ATCTCTGTCTCTGTCTCTCCCTCCCTTTCCACCATCTCTGTCTCTCCCTC CCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTC CCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTC TCTCCCTCCCCTTCCACCG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0197 a0001c0002t0002g0197	1	330	0.0030	-168	c.-13 others(17): Show c.-13-1859_-13-1692del	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERICH1_chr8_659200_736224	680123	TAGCTGCC others(161): Show TAGCTGCCACCCCTGTGAACACAGAAGATGCAAGAGAATCCACAGCTGCC ACCCCTGTGAACACAGAAGATGCAAGAGAATCCACAGCTGCCACCCCTGT GAACACAGAAAGTCCAAGAGAATCCATAGCTGCCACCCCTGTGAACACAG AAGATGCAAGAGAATCCAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00639.hp1 others(50): Show HG00323.hp2 HG00423.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01081.hp1 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01256.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02135.hp1 HG02258.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02886.hp1 HG02897.hp2 HG03195.hp2 HG03471.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18956.hp2 NA18964.hp1 NA18977.hp1 NA18977.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19078.hp2 NA20752.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0001c0014 others(1): Show a0001c0001 a0001c0003 a0001c0014 a0008c0016	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0014t0001 a0008c0016t0002	a0001c0001t0001g0101 a0001c0001t0001g0143 a0001c0001t0001g0145 others(49): Show a0001c0001t0001g0101 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0158 a0001c0001t0001g0205 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0002g0011 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0297 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0351 a0001c0003t0001g0218 a0001c0003t0001g0224 a0001c0014t0001g0077 a0008c0016t0002g0326	53	378	0.1402	-168	c.305 others(17): Show c.305-6244_305-6077del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
FAM161A_chr2_61819848_61859060	61848927	TATATATA others(161): Show TATATATATATATTTATATATATTTATATATATATTTATATATATATATA TTTATATATTTATATATATTTATATATATATTTATATATTTATATATATT TATATATATATTTATATATTTATATATATTTATATATATATAAATATATA TATTTATATATATATTTAA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0002 a0010c0011t0002	a0010c0011t0002g0263 a0010c0011t0002g0263	1	400	0.0025	-168	c.183 others(17): Show c.183+4764_183+4931del	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6			chr2	TogoVar
FAM219B_chr15_74894992_74911851	74910419	AACCTAAT others(161): Show AACCTAATGATGACAAATAAGGTATCTCCCAGTTCCCAGTCTTATTTCTT TGTTATTGGGGGGTAGTGAATCCTCGGGGAGAGATTATTGGCTGTTAGGA GCAAGGACTACTACCCTGGCTTTTGGAACCCTCATTGGGCAGTTACTCTT TATCCCTGGCTCTAAATCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0019 a0001c0001t0007g0019	1	432	0.0023	-168	c.-37 others(11): Show c.-3787_-3620del	FAM219B	ENSG00000178761.15	transcript	ENST00000357635.10	protein_coding		3569		chr15	TogoVar
FAM9B_chrX_9019232_9039127	9021766	TATTATGT others(161): Show TATTATGTATAATATATAATATATATTACATTATGTATAATATATAATAT ATATTACATTATGTATAATATATAATATATATTACATTATGTATAATATA TAATATATATTACATTATGTATAATATATAATATATATTACATTATGTAT AATATATAATATATATTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01515.hp1 HG01517.hp1 HG01255.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	3	258	0.0116	-168	c.34 others(11): Show c.3475_*3642del	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		2465		chrX	TogoVar
FOXN3_chr14_89151177_89422233	89361570	ACCACCAC others(161): Show ACCACCACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCAC CTCCACCACCACCTCCACCACCACCTCCACCACCACCACCTCCAGCACCA CCTCCACCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACT ACCTCCACCACCACCACCT	A A	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0060 a0001c0001t0007g0060	1	230	0.0044	-168	c.544 others(19): Show c.544-10930_544-10763del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361937	CCTCCACC others(161): Show CCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACT ACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAG CACCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCT CCACCACTACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02897.hp2 HG02965.hp1 HG02559.hp2 HG02897.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0044 a0001c0002t0011 a0001c0002t0066 a0001c0001t0044 a0001c0002t0011 a0001c0002t0066	a0001c0001t0044g0152 a0001c0002t0011g0111 a0001c0002t0066g0113 a0001c0001t0044g0152 a0001c0002t0011g0111 a0001c0002t0066g0113	3	230	0.0130	-168	c.544 others(19): Show c.544-11297_544-11130del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar

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