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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
UBC_chr12_124906646_124919650	124912764	GTCTTGGA others(449): Show GTCTTGGATCTTTGCCTTGACATTCTCAATGGTGTCACTCGGCTCCACTT CGAGAGTGATGGTCTTACCAGTCAGGGTCTTCACGAAGATCTGCATCCCA CCTCTGAGACGGAGCACCAGGTGCAGGGTAGACTCTTTCTGGATGTTGTA GTCAGACAGGGTGCGCCCATCTTCCAGCTGCTTTCCGGCAAAGATCAACC TCTGCTGGTCAGGAGGAATGCCTTCCTTGTCTTGGATCTTTGCTTTGACG TTCTCGATAGTGTCACTGGGCTCGACCTCAAGGGTGATGGTCTTGCCAGT GAGTGTCTTCACGAAGATTTGCATCCCACCTCTGAGACGGAGTACCAGGT GCAAGGTGGACTCTTTCTGGATGTTGTAGTCAGACAGGGTACGACCATCT TCCAGCTGTTTTCCGGCAAAGATCAACCTCTGCTGATCAGGAGGAATGCC TTCCTTA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02083.hp1 NA18965.hp1 NA18973.hp2 others(1): Show HG02083.hp1 NA18965.hp1 NA18973.hp2 NA19060.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0016 a0002c0011t0001g0016	4	446	0.0090	-456	c.552 others(8): Show c.552_1007del	p.Lys others(13): Show p.Lys185_Asp336del	UBC	ENSG00000150991.16	transcript	ENST00000339647.6	protein_coding	2/2	1074/2193	552/2058	184/685			chr12	TogoVar
UBC_chr12_124906646_124919650	124912818	AGTGATGG others(449): Show AGTGATGGTCTTACCAGTCAGGGTCTTCACGAAGATCTGCATCCCACCTC TGAGACGGAGCACCAGGTGCAGGGTAGACTCTTTCTGGATGTTGTAGTCA GACAGGGTGCGCCCATCTTCCAGCTGCTTTCCGGCAAAGATCAACCTCTG CTGGTCAGGAGGAATGCCTTCCTTGTCTTGGATCTTTGCTTTGACGTTCT CGATAGTGTCACTGGGCTCGACCTCAAGGGTGATGGTCTTGCCAGTGAGT GTCTTCACGAAGATTTGCATCCCACCTCTGAGACGGAGTACCAGGTGCAA GGTGGACTCTTTCTGGATGTTGTAGTCAGACAGGGTACGACCATCTTCCA GCTGTTTTCCGGCAAAGATCAACCTCTGCTGATCAGGAGGAATGCCTTCC TTATCTTGGATCTTTGCCTTGACATTCTCGATGGTGTCACTGGGCTCCAC CTCGAGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01168.hp2 HG03688.hp2 HG01168.hp2 HG03688.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0006 a0002c0017t0006	a0002c0017t0006g0022 a0002c0017t0006g0022	2	446	0.0045	-456	c.498 others(7): Show c.498_953del	p.Leu others(13): Show p.Leu167_Thr318del	UBC	ENSG00000150991.16	transcript	ENST00000339647.6	protein_coding	2/2	1020/2193	498/2058	166/685			chr12	TogoVar
UBC_chr12_124906646_124919650	124913022	AGTGTCAC others(449): Show AGTGTCACTGGGCTCGACCTCAAGGGTGATGGTCTTGCCAGTGAGTGTCT TCACGAAGATTTGCATCCCACCTCTGAGACGGAGTACCAGGTGCAAGGTG GACTCTTTCTGGATGTTGTAGTCAGACAGGGTACGACCATCTTCCAGCTG TTTTCCGGCAAAGATCAACCTCTGCTGATCAGGAGGAATGCCTTCCTTAT CTTGGATCTTTGCCTTGACATTCTCGATGGTGTCACTGGGCTCCACCTCG AGGGTGATGGTCTTACCAGTCAGGGTCTTCACGAAGATCTGCATCCCACC TCTGAGACGGAGCACCAGGTGCAGGGTAGACTCTTTCTGGATGTTGTAGT CAGACAGGGTGCGCCCATCTTCCAGCTGCTTTCCGGCAAAGATCAACCTC TGCTGGTCAGGAGGAATGCCTTCCTTGTCCTGGATCTTTGCTTTGACGTT CTCGATG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0002 a0002c0031t0002	a0002c0031t0002g0038 a0002c0031t0002g0038	1	446	0.0022	-456	c.294 others(7): Show c.294_749del	p.Ile others(12): Show p.Ile99_Thr250del	UBC	ENSG00000150991.16	transcript	ENST00000339647.6	protein_coding	2/2	816/2193	294/2058	98/685			chr12	TogoVar
UNC13B_chr9_35157009_35410335	35372983	CCCTGTGC others(449): Show CCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAAC TCTCTGTGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGCTAGCA AGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGG GGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTT AACTCTCTGGGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGCTA GCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGTGCTTGGCAGATACA TGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGAC TTAACTCTCTGGGCTTGGCAGATACATGGGCCCCTGTGCAAGAGTGTGGC TAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGTGCTTGGCAGATA CATGGGG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0203 a0005c0006t0001g0203	1	224	0.0045	-456	c.954 others(19): Show c.9541-2141_9541-1686del		UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	13/39					INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35373212	CCCTGTGC others(449): Show CCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAAC TCTCTGTGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGCTAGCA AGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGG GCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTA ACTCTCTGTGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGCTAG CAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACAT GGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACT TAACTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGC TAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATA CATGGGG	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0036 a0004c0036	a0004c0036t0006 a0004c0036t0006	a0004c0036t0006g0006 a0004c0036t0006g0006	1	224	0.0045	-456	c.954 others(19): Show c.9541-1912_9541-1457del		UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	13/39					INFO_REALIGN_3_PRIME	chr9	TogoVar
YAF2_chr12_42152104_42243248	42228020	TGGGGGGT others(449): Show TGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGG GCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGG CCAGCCGCCCCGTCCTGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGCG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCC GGCCAGCCACCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCTCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGG GAGGTGG	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA19240.hp2 HG01169.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0093 a0001c0001t0008g0122 a0001c0001t0008g0093 a0001c0001t0008g0122	2	374	0.0054	-456	c.152 others(17): Show c.152+9123_152+9578del		YAF2	ENSG00000015153.15	transcript	ENST00000534854.7	protein_coding	2/3						chr12	TogoVar
ADARB2_chr10_1172313_1742525	1235764	CCAAAGAG others(448): Show CCAAAGAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCACCATG ATCTTTTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATCTATCTG TCTACACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGCCATAC CTCACAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGTGTGT GATTAAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCACCAGC ACAGGTGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCATCCAG CCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATG ATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGC CCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTC CTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02083.hp1 NA18982.hp1 others(1): Show HG00639.hp2 HG02083.hp1 NA18982.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0013 a0002c0002t0008 a0002c0002t0027 others(1): Show a0001c0001t0013 a0002c0002t0008 a0002c0002t0027 a0002c0004t0005	a0001c0001t0013g0007 a0002c0002t0008g0058 a0002c0002t0027g0021 others(1): Show a0001c0001t0013g0007 a0002c0002t0008g0058 a0002c0002t0027g0021 a0002c0004t0005g0029	4	106	0.0377	-455	c.136 others(19): Show c.1362-2374_1362-1920del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADORA2B_chr17_15940130_15980746	15964345	ACCTGTAA others(448): Show ACCTGTAATCCCAGCACTTTGGGAGGCCAAGATTGGCGGATCACCAGAGG TCAGGAGTTCGAGACCAGCCTGGCCAGCATGGTGAAACCCTGTCTCTACT AAAAATACAAAAAAATTAACCAGGTGTGGTGGCAGGCGCCTGTAATCCCA GCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAG GTTGCAGTGAGCCGAGATCATGACACTGCACCTTCATTCCAGTCTGGGCG ACAAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAAAGATGAAT TCTACTTTTTTAATTGTTATAGTGCTATTAAAATTTCTATTTATTTTTCT GTTCATAAATATTAAAAAAAAAACCTTTTATAGTTTGGTACCATAGGAAA TCTGAAAAATAGATGAATATTAAAAAAAAAAATCTGGCCGGGCGCGGTGG CTCACG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	346	0.0029	-455	c.336 others(18): Show c.336-10326_336-9872del		ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr17	TogoVar
ASAP1_chr8_130047104_130448674	130049309	GGGGGGCA others(448): Show GGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAG AGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAAC ACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGG GCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGG AACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATG GGGGCAGAGGGGAATACATGGGGGGCAGAGGGGAACACATGGAGGGCAGA GGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACA CATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGC AGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGAGA ACACAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0116 a0002c0002t0015g0116	1	308	0.0033	-455	c.49 others(11): Show c.4967_*5421del		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2794		chr8	TogoVar
MTM1_chrX_150563621_150678143	150583414	TTATATAT others(448): Show TTATATATAATTATAAATATATAAAAATTATATATATTATATATAATTAT AAATATATATAAATTATATATATTATATATAAATTATAAATATATATAAT TTATATATATTATATATAAATTATATATATTATACATAATTTATATATAA TATATAATTTATATATAATATATATAATTTATATATAATATATAATTTAT ATATATTATATATAATTTATATATAATATATAATTTATATATATTATATA TAATTTATATATAAATAATTTGTATATATTATTTATAAATATATAAATTA TATATATTATATAAATTATATATTATATATAAATTAATATATATTAAATT AATATATATTTAATATATAAAATATATATAAAATATATATTAAATATATA TATTAAATATACAAAATATATATAAATATATATCAAATATATAAAATATA TATTAA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	277	0.0036	-455	c.-10 others(17): Show c.-10-9190_-10-8736del		MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	1/14						chrX	TogoVar
PAIP2_chr5_139336854_139374717	139363186	AACCAAGA others(448): Show AACCAAGATCATGCCACTGCATTCCAGCCTGGGTGACAGAGTGAAACTCT ATCTCAAAAAAAAAAAGAAAACATTAGATGTTTTAGGCTGTCCTCTCCTG TTTCTTAAAACATTAAAATCATTTGGAAAAAACAAACATGAAGCTTTCCA ATTATTCAACTTACCGTGTATTTTTAATGTATCATCTGCCTCTAACACCT ATTCATGATGCCTGCTAATAATAAACAGATGCTCACTAAGAACTGAAAGA ATCAGCTGGGCCTGGTGGCTCATGCATATAATCCCAGCACTTTGAGAGGC TTGGGTGGGAGGATCACTTGAGCCCAGAAATTTGAGACCAGCTTGGGTAA CACAGACCTTGTTTCTACAAAAAATAAAAAAAATTCAGCCGGGTGGTGTG GTGGTGCACACCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAAGAGATC GAGGCT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03486.hp2 HG01884.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0002g0262 a0001c0001t0002g0265	2	344	0.0058	-455	c.-26 others(15): Show c.-26-572_-26-118del		PAIP2	ENSG00000120727.13	transcript	ENST00000265192.9	protein_coding	1/3						chr5	TogoVar
PCGF3_chr4_700832_775089	745382	CCCGGGGG others(448): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0125 a0001c0003t0005g0125	1	366	0.0027	-455	c.462 others(16): Show c.462+697_462+1151del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745695	TCCGTGGA others(448): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTG CAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	366	0.0027	-455	c.462 others(17): Show c.462+1064_462+1518del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746009	CCCGGGGG others(448): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGG	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18967.hp2 HG03704.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0177 a0001c0001t0002g0169 a0001c0001t0002g0177	2	366	0.0055	-455	c.462 others(17): Show c.462+1324_462+1778del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747094	GGGGTCGC others(448): Show GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCG CTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCC	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18963.hp1 NA18980.hp2 others(1): Show HG02523.hp1 NA18963.hp1 NA18980.hp2 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0007 a0001c0001t0007 a0002c0002t0007	a0001c0001t0007g0300 a0001c0001t0007g0304 a0001c0001t0007g0364 others(1): Show a0001c0001t0007g0300 a0001c0001t0007g0304 a0001c0001t0007g0364 a0002c0002t0007g0301	4	366	0.0109	-455	c.462 others(17): Show c.462+2410_462+2864del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PTX4_chr16_1480886_1493944	1484894	AAAAGAAA others(448): Show AAAAGAAATAAAAAATTTTCAGCCAGGCGCGTTAGTGTGTGCCTCTAGTC CCAGCTACTCAGGAGGCTGACGTGGGAGGATCAGCTGAGCTCGGGAGGTT GAGGCTGCAGTGAGCTATGATTGTGCCACTGTACTCCAGCCTGGGCGACA GTGTAAGACTCTGTCAGAAACAAAGAGAGAGAGAGATAAAGAGAGAAGAG AGAGAGAAAGAGGAAGAGGGAAGGAAGGAATGGAGGGAGGGAGGGAGGGA ACGGGAAAGGAAGAAGGAAGGGAGGGAGGGAGGGGCCAGGCGTGGTGGCG GGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATTGCTTG AATCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCATTGCCCTCC ATCCTAGGAGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAGATA AGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	442	0.0023	-455	c.59 others(10): Show c.590_*1044del		PTX4	ENSG00000251692.8	transcript	ENST00000447419.7	protein_coding					991		chr16	TogoVar
SCRN1_chr7_29915109_29994801	29984951	AAGGAGCC others(448): Show AAGGAGCCAATTAAATATATAAGGTGAACAAAGATTTAAAAATTTGATAA TATCTAGTCTTGACTTGTGTGGGGAAAGTAGCTTTGGGTAATTTGGCCAA ATCTAACAGATTAACATAACCAGTGAAGTTGGTAGACAGCTCTTGTTCAT CTCATCCTAAAAGGAAGGAGACTGGGCTGGGCGCGGTGGCTCACACCTGT AATCCCAGCACTTGGGAGACTGAGGCAGGCGGATCATGAGGTCAGGAGTT TGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAAATAC AAAAATTAGCCAGGCATGGTGGTGCGCACCTGTAATCCCAGCTACTCAGG AGACTAAAGCAGGAGAAATCACTTGAACCTGGGGGGACAGAGGTTGCAGT GAGCTGAGATCACGCCACTACACTCCAGCCTGGGTGACAGAGTGAGACTC TGTCTC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01070.hp2 others(39): Show HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01516.hp1 HG01891.hp2 HG01934.hp2 HG02055.hp1 HG02258.hp2 HG02280.hp2 HG02615.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp1 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp2 HG03834.hp1 HG03942.hp2 NA18942.hp2 NA18947.hp1 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18992.hp1 NA19002.hp2 NA19012.hp2 NA19043.hp2 NA19070.hp1 NA19080.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0023 a0002c0002t0017 a0002c0002t0035	a0001c0001t0002g0243 a0001c0001t0003g0003 a0001c0001t0003g0004 others(37): Show a0001c0001t0002g0243 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0239 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0008g0235 a0001c0001t0008g0246 a0001c0001t0008g0247 a0001c0001t0008g0248 a0001c0001t0008g0249 a0001c0001t0011g0258 a0001c0001t0011g0262 a0001c0001t0011g0267 a0001c0001t0013g0254 a0001c0001t0014g0219 a0001c0001t0014g0240 a0001c0001t0015g0238 a0001c0001t0015g0253 a0001c0001t0022g0261 a0001c0001t0023g0266 a0002c0002t0017g0237 a0002c0002t0035g0231	42	274	0.1533	-455	c.-2+ others(15): Show c.-2+4236_-2+4690del		SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding	1/7						chr7	TogoVar
SLC23A1_chr5_139362196_139388297	139363186	AACCAAGA others(448): Show AACCAAGATCATGCCACTGCATTCCAGCCTGGGTGACAGAGTGAAACTCT ATCTCAAAAAAAAAAAGAAAACATTAGATGTTTTAGGCTGTCCTCTCCTG TTTCTTAAAACATTAAAATCATTTGGAAAAAACAAACATGAAGCTTTCCA ATTATTCAACTTACCGTGTATTTTTAATGTATCATCTGCCTCTAACACCT ATTCATGATGCCTGCTAATAATAAACAGATGCTCACTAAGAACTGAAAGA ATCAGCTGGGCCTGGTGGCTCATGCATATAATCCCAGCACTTTGAGAGGC TTGGGTGGGAGGATCACTTGAGCCCAGAAATTTGAGACCAGCTTGGGTAA CACAGACCTTGTTTCTACAAAAAATAAAAAAAATTCAGCCGGGTGGTGTG GTGGTGCACACCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAAGAGATC GAGGCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03486.hp2 HG01884.hp1 HG03486.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0039 a0005c0006t0001g0040 a0005c0006t0001g0039 a0005c0006t0001g0040	2	350	0.0057	-455	c.40 others(11): Show c.4010_*4464del		SLC23A1	ENSG00000170482.17	transcript	ENST00000348729.8	protein_coding					4009		chr5	TogoVar
SNTG2_chr2_945849_1372613	1342275	TGCTCTGT others(448): Show TGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGG AAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTG GGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGG ACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTT TTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCT TCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAG TGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTA GGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGAC ATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCT GGCCCA	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03540.hp1 NA19084.hp2 HG02738.hp1 HG03540.hp1 NA19084.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0026 a0001c0001 a0003c0026	a0001c0001t0001 a0003c0026t0001 a0001c0001t0001 a0003c0026t0001	a0001c0001t0001g0035 a0001c0001t0001g0039 a0003c0026t0001g0097 a0001c0001t0001g0035 a0001c0001t0001g0039 a0003c0026t0001g0097	3	190	0.0158	-455	c.148 others(21): Show c.1489-24989_1489-24535del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1342354	GGCACTTT others(448): Show GGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAG CGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCAT AGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAA GCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGG CACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGAC TTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTT CCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTC	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	190	0.0053	-455	c.148 others(21): Show c.1489-24862_1489-24408del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
TAFA5_chr22_48484553_48756932	48638358	CCCCCCCC others(448): Show CCCCCCCCGACACTAAGCCCTGGGACACCGCACACAGGGGGGACCCCGAC ACTAAGCCCTGGGACACCGCACACAGGCAGCACCCCTCCCCCGACACTAA GCCCTGGGTCACCGCACACAGGGGGGACCCCAACACTAAGCCCTGGGACA CCACACACAGGGGGGACCCCAACACTAAGCCCTGGGACACCACACACAGG CGGGACCCCGACACTAAGCCCTGGGTCACCACACACAGGCAATACCCCTC CCCTGACACTAAGCCACACATAGGCAACAACCCCCCCCACACACTAAGCC CTGGGCCACACACAGGCAATACCACCCCCCTGGACACTAAGCCCTGGGAC ACTGCACACAGGGGGGACCCCGACACTAAGCCCTGGGACACCACACACAG GCGGGACCCCCCCCATCCCCCGACACTAAGCCCTGGGTCACCGCACACAG GGGGGA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00597.hp2 others(8): Show HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp1 HG02165.hp2 HG03225.hp1 HG06807.hp1 NA18747.hp2 NA18972.hp1 NA18980.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0001 a0001c0001t0003 a0001c0001t0018	a0001c0001t0001g0039 a0001c0001t0001g0093 a0001c0001t0001g0102 others(8): Show a0001c0001t0001g0039 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0236 a0001c0001t0003g0008 a0001c0001t0018g0028	11	258	0.0426	-455	c.113 others(17): Show c.113-8234_113-7780del		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
TMEM132B_chr12_125181386_125667369	125494513	GCTCCCCC others(448): Show GCTCCCCCTCCTCCCTGGAAATGGCTGTGTCCCTCCTCCCTCTCCTCCCT GGAAGAAATGGATGCGTCCCTCCTCCCCCTCCTCCCTGAAAATGGCCGCG TCCCTCCTCCCCCTCCTCCCTGAAAATGGCCATGTCCCTCATCCTTGGAA ATGGATGTGTCCCTCCTCCCCTTCCTCCCTGAAAATGGCTGGGTCCCTCC TCCCCCTCCTCCCTGGAAATGGATGCGTCCCCTCCTCTCCCTCCTCCCTG GAAATGGCCGTGTTCCTCCTCCCCCTCTTCCCCCTCCTCCCTGGAAATGG CTGCATCCCTCCTCCCCCTCCTCCCCCTCCTCCCTGGAAATGGCCACGCC CCTCCTCCCCCTCCTCCCTGGAAAAGGATGCGTCCCTCTCCCCCCTCCTC CCTGGAAATGGGTGCGTCCCTCTTCCCCCTCTTCCCTGAAAATGGATGCG TCCCTC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19043.hp2 HG02109.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0022 a0001c0003 a0002c0022	a0001c0003t0030 a0002c0022t0011 a0001c0003t0030 a0002c0022t0011	a0001c0003t0030g0004 a0002c0022t0011g0092 a0001c0003t0030g0004 a0002c0022t0011g0092	2	128	0.0156	-455	c.110 others(21): Show c.1107-24795_1107-24341del		TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129856008	AGAGTCCG others(448): Show AGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAAC GGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTT ATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGG GGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTG CCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGT CCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGAT GGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAAC AGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAAC GGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTT GTAACG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0044 a0001c0001t0021g0044	1	94	0.0106	-455	c.79+ others(17): Show c.79+46798_79+47252del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8						chr12	TogoVar
VPS53_chr17_503668_719839	506565	CGGTTGAG others(448): Show CGGTTGAGATGGAAGCTGACTTTCTAGAAGAGCACCGGTGACCCTCAAGA GCGGGGTCAGGACAGTGGTTGAGATGGAAGCTGACTTTGTAGAAGAGCAT TGGTGACCTTCGAGATCAGGGTCAGGACAGCGGTTGAGATGGAAGCTGAC TTTCTAGAAGAGCATTGGTGACCTTCGAGAGCAGGGTCAGGACAGCGGTT GAGATGGAAGCTGACTTTCTAGAAGAGCATTGGTGACCTTCGAGAGCAGG GTCAGGACGGTGGTTGAGATGGAAGCTGACTTTCTAGAAGAGCATTGGTG ACCTTCGAAAGCAGGGTCAGGACAGCGGTTGAGATGGAAGCTGACTTTCT AGAAGAGCACCGGTGACCTTTGAGAGCGGGGTCAGGACAGTGGTTGAGAT GGAAGCTGACTTTGTAGAAGAGCATTGGTGACCTTCGAGAGCAGGGTCAG GACAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0077 a0001c0002t0014g0077	1	232	0.0043	-455	c.12 others(13): Show c.12108_*12562del		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding					2102		chr17	TogoVar
ZSCAN5A_chr19_56216303_56319839	56236276	GCCTCTGA others(448): Show GCCTCTGATTGACCGTGGGCCAAGCCTCCACTCCAGCCTCTGATGGACGG TGGGCCAAGTCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGCCTCCA CTCCAGCCTCTGATGGACGGTGGGCCAAGCCTCCATTCCAGCCTCTGATT GACCGTGGGCCAAGCCTCCACTCCAACCTCTGATGGACGGTGGGCCAAGC CTCCATTCCAGCCTCTGATGGACGGTGGGCCAAGTCTCCACTCCAGCCTC TGATGGATGGTGGGCCAAGCCTCCACTCCAGCCTCTGATGGACGGTGGGC CAAGTCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGCCTCCACTCCA GCCTCTGATGGACGGTGGGCCAAGCCTCCATTCCAGCCTCTGATGGACGG TGGGCCAAGCCTCCATTCCAGCCTCTGATGGACGGTGGGCCACGCCTCCA CTCCAA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	362	0.0028	-455	c.-12 others(21): Show c.-127-11558_-127-11104del		ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5						chr19	TogoVar
ACAP3_chr1_1287391_1312930	1288903	TCCCGTGT others(447): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCC CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	295	0.0034	-454	c.42 others(11): Show c.4207_*4660del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3487		chr1	TogoVar
ACOX1_chr17_75936507_75984166	75958154	TCCATCCT others(447): Show TCCATCCTGGCTAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAA TTAGCCAGGCATTGTGGCATGCGCCTGTAGTCCCAGCTACTAAGGAGGCT GAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAA GATTGTGCCACCGCACTCCAGCCTGGGTGGCAGAGCAAGACTCCATCTCA AAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAAGGCCAGGCACAGTGGCT CAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGGGGATCACGAG GTCAGGAGATTGAGACCATCCTGGCTAAAGTGGTGAAACCCCGTCTCTAC TAAAAAAACAACAAAAAAATTAAAGCTGGGCACGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGGGGCCAAGGCGGGCGGATCACAAAGTCAGGAGAT CGAGA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp1 HG02970.hp1 others(3): Show HG02280.hp1 HG02572.hp1 HG02970.hp1 HG02976.hp2 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0046 a0001c0003t0048 a0001c0003t0012 a0001c0003t0046 a0001c0003t0048	a0001c0003t0012g0007 a0001c0003t0012g0008 a0001c0003t0012g0009 others(3): Show a0001c0003t0012g0007 a0001c0003t0012g0008 a0001c0003t0012g0009 a0001c0003t0012g0011 a0001c0003t0046g0012 a0001c0003t0048g0013	6	344	0.0174	-454	c.431 others(16): Show c.431-1042_431-589del		ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	3/13						chr17	TogoVar
ASAP1_chr8_130047104_130448674	130049434	GGGGGCAG others(447): Show GGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGA GGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACA CATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGG CAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGGG AACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGG AGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAG GGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACA TGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCA GAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAA CACAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02886.hp2 HG01167.hp2 HG02886.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0002 a0001c0005t0007g0003 a0001c0005t0007g0002 a0001c0005t0007g0003	2	308	0.0065	-454	c.48 others(11): Show c.4843_*5296del		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2669		chr8	TogoVar
CFAP46_chr10_132803392_132947570	132931879	TTCCCCAC others(447): Show TTCCCCACATTCCCCACATAGAGCCTGGGCTTTCCTCCTCCCCACGCAGA GGCTGGGCCTTCCTCCTCCACACACAGAGGCTGGGCCTTCCTTGTCGCCA CACAGAGCCTGGGCCTCCCCACACTCCCCACACAGAGGCTGGGCCTCCCC AGACTTCTCACACAAAGCCTGGGCCTTCCTGCTCCCCACACAGAGCCTGG ACCTTCATCCTCCCCACACAGAGCCTGGGCCTTCCTCCTCCCCACACAGA GCCTGGGCCTTCCCCACACAGAGGCTAGGCCTCCCCACACTTCTCACACA GAGCCTAGGCCTCCTCACACTTCTCACACAGAGCCTGGGTCTCCCTACAC TCCCCACACAGAGCCTGGGCCTTCCTCCTCCCCACACAGAGCCTGGGCCT CCCTCCTCTCCACACAGAGCCTGGGCCTCCCTCCTCTCCACACAGAGCCT GGGCC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0049 a0049	a0049c0106 a0049c0106	a0049c0106t0002 a0049c0106t0002	a0049c0106t0002g0102 a0049c0106t0002g0102	1	246	0.0041	-454	c.866 others(17): Show c.866+2419_867-2076del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	8/57						chr10	TogoVar
CNN2_chr19_1021608_1044065	1033743	GGGGAGCG others(447): Show GGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGG ACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGT AGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTG GGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTC TGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAG CGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGG TGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGAC CGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGG ACACATTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGT AGACC	G G	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	390	0.0026	-454	c.390 others(17): Show c.390+1065_390+1518del		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
CNTN4_chr3_2093866_3062959	2278751	CTCATTTG others(447): Show CTCATTTGTAAAATGGCCATTAAACACTTCATAATATTACTGTGAGGATT AAAAAAGTAAGAACTAAGTCCAGTGTTTGGTAACTGTAGTAAGCCCTAGA TGGATGATTGTCACTACTGTTATTTACCCTAAATAAATTCAATATTTATC TTTAGTTATTATTATACCACACTGTTACTAAGTTAGGCTTAGAAGGAAAT GACTCCCTGTTAGCTTTGAAGGTTGAGCTACAAGATCATGCCCATCAAGT TAAAATTAAGGTTTTGACCTGACAATTGAAGGTGCAAGCCTAGAGAGATT ACCTTCCACATAAGCTTAATACCTGGCCTAAGTGGCTTGCTCACGTTATC TAAGTAGAAACAAACTGAAACAAACAAAACTAATAATCAAAACTAATAAA AACATCCAAATAAATAAAATTATTGATTCAGGCAAGGAATAAGGATTAAT AAATT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0009 a0005c0012t0009	a0005c0012t0009g0093 a0005c0012t0009g0093	1	116	0.0086	-454	c.-14 others(21): Show c.-144-60425_-144-59972del		CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr3	TogoVar
CYP7B1_chr8_64585851_64803737	64685742	CGCCCGGC others(447): Show CGCCCGGCAGCCACCCCATCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCC CCGCCCGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGTCAGCTCCCC CGCCCGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCTTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGG GAGGGAGATGGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGG GAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCT	C C	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19090.hp1 NA19064.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0139 a0001c0001t0012g0183 a0001c0001t0012g0139 a0001c0001t0012g0183	2	258	0.0078	-454	c.123 others(19): Show c.123-61657_123-61204del		CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5						chr8	TogoVar
DEAF1_chr11_639233_700222	677316	CGGTGAAA others(447): Show CGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTG GCGCGTGCCTGAAGTCTACACTCCAGCCTGGGCAACAGATCAAGACTCCA TCTCAAAAAAAAAACAAAAAAAGGATGAGCCACCACGCCCAGCCCTGAGG TAAGCTTTAAAGATGGAAAGAGTTTAGATAGGCAAAAGAGAGAATAATGA AACAAGCAAATGAAAATGAAAAGGTAAGTTTTTCATGAACAAGTTTCTTG CGCTGTCTGTGACAGTGAAAAATGGAAAACATGCATTTGCCACCAGCAGG GGAGGGTTCAATCAATCATGTATTGATCATATGCACCCTTTAAAAAAGTA TAATGATGGCTGGGCACGATGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCAAGGCAGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACC AGCAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(197): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19091.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0011 a0001c0013 a0001c0014 a0003c0007 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0009t0001 a0001c0011t0001 a0001c0013t0001 a0001c0014t0001 a0003c0007t0001 a0005c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(195): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0158 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0328 a0001c0001t0002g0033 a0001c0001t0002g0127 a0001c0001t0002g0132 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0004g0199 a0001c0001t0006g0031 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0003t0001g0006 a0001c0003t0001g0032 a0001c0003t0001g0056 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0001g0174 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0194 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0004t0001g0020 a0001c0004t0001g0021 a0001c0004t0001g0022 a0001c0004t0001g0024 a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0027 a0001c0004t0001g0028 a0001c0006t0001g0019 a0001c0006t0001g0080 a0001c0006t0001g0105 a0001c0006t0001g0106 a0001c0006t0001g0117 a0001c0009t0001g0063 a0001c0009t0001g0137 a0001c0011t0001g0085 a0001c0013t0001g0078 a0001c0014t0001g0147 a0003c0007t0001g0039 a0003c0007t0001g0040 a0005c0010t0001g0084	200	345	0.5797	-454	c.125 others(18): Show c.1255+924_1255+1377del		DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	9/11						chr11	TogoVar
KLK4_chr19_50901351_50916395	50914028	GTCTCTCT others(447): Show GTCTCTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTCTCCGCAC CTGTCTGTCCATCTTTCTCTGTGTCTCTCTCCTCCCATCTCTGTCTCTGT CTCTCTGTCTGTCTCTGCACCTGTGTCTGTCCATCTTTCTCTGTGTCTCT CTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTGTCTCCGCACCTGTGT GTCTGTCCATCTTTCTCTGTGTCTCTCTCCTCCCATCTCTGTCTCTGTCT CTCTGTCTGTGTCTCCGCACCTGTGTCTCTGTCCATCTTTCTCTGTGTCT CTCTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTGGCTTCGCAC ATGTCTCTGTCCATCTTTCTCTGTGTCTCTCTCTCCTCCCATCTCTGTCT CTGTCTCTCTGTCTGTGTCTCCGCACCTGTGTGTCTGTCCATCTTTCTCT GTGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	414	0.0024	-454	c.-31 others(11): Show c.-3155_-2702del		KLK4	ENSG00000167749.12	transcript	ENST00000324041.6	protein_coding					2634		chr19	TogoVar
MACROD2_chr20_13990516_16058197	15730896	TCTGACTA others(447): Show TCTGACTAAATTAGTTCAGAGAACTGGTCTTCGAGCTCTGAGATTCTTTC CTCAGCTTGGTTGATTCTGTTGTTAATATTTGTGGTTGTATTCTGAAACT CTTGAGGTGAGTTTTTCAGCTCTATCAGATCAGTTTGGTTGTTTCTTAAA ATGTCTATTACATCTTTTATCTCATATATCATTTCATTGTATTGCTTAGA TTCCTTGGATTGGGTTTTGACTTTCTCCTGGATATCAATTGTTTTCATTT CTATCCATAGTCTGAATTTTATTTCTGTAATCTCAGCCATTTCAGCCTGG TTAAGAACCTTTGCTTAGAAACTAGTATAGTCACTTGGAGGTAAGAAGAT AGAGTAAGAAGGCTTTTTGAGTTGCCAGAGTTCTTGCACTGGTTCTTTCT CATGTGTGTGAGCTTATTTTCCTTAAATCTTTGAAATTTCTGTCTTTTGG ATGAG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG01081.hp2 others(14): Show HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01168.hp1 HG01168.hp2 HG02257.hp1 HG02257.hp2 HG02559.hp1 HG03041.hp1 HG03209.hp2 HG03486.hp1 HG03486.hp2 NA18970.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0010 a0003c0003t0006	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 others(14): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0002g0015 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0004g0016 a0001c0001t0011g0009 a0001c0001t0013g0006 a0002c0002t0002g0010 a0002c0002t0002g0022 a0002c0002t0003g0024 a0002c0002t0007g0013 a0002c0002t0010g0007 a0003c0003t0006g0019	17	24	0.7083	-454	c.646 others(21): Show c.646-131848_646-131395del		MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	8/17						chr20	TogoVar
MYOM1_chr18_3061807_3224968	3123837	TTTGAGAC others(447): Show TTTGAGACAGGATCTCGCTCTGTCACCAAGCCTGGAGTGCAGTGGTGTGA TCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCATGCC TCAGCCTCCTGAGTAAAAGGTATAAAAGTAGCTGGGATTACACATGAGAG CCACCACTCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACC ATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCCCCCACC TCGGCCTCCCAAAGTGCTGAGACTACAGGTGCGAGCCACCATGCCCGGCC TATAAAGCTATAATATTTAAATCAGTGTGGTAGTCACCCACTGTTACACA AACAGACCAGTGGAACAGCATGGGAAGCACGAACACAGACTCACGCATAT AAGGAAACGATATATGATACAGATACCCCTGCAGAATAGCAGGCAGACGA CAAAC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02922.hp2 HG02897.hp2 HG02922.hp2	a0002 a0016 a0002 a0016	a0002c0049 a0016c0190 a0002c0049 a0016c0190	a0002c0049t0001 a0016c0190t0009 a0002c0049t0001 a0016c0190t0009	a0002c0049t0001g0123 a0016c0190t0009g0038 a0002c0049t0001g0123 a0016c0190t0009g0038	2	330	0.0061	-454	c.299 others(19): Show c.2991+2410_2991+2863del		MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding	19/37						chr18	TogoVar
NKD2_chr5_1003802_1043943	1022663	GCTGTGGG others(447): Show GCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTAGTGGG TGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCCCAGC CCTTTGTCCCTGCTCTTCCCACCCGCTAGTGGGTGTCCCAGCCCTTTGTC CCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTT CCCACCCGCTAGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCT CTGTGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCTGCTGTGGGCG TCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCC GTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCATTGTCCCT GCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCCT	G G	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19074.hp2 NA19091.hp1 NA19064.hp2 NA19074.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0027 a0001c0001t0007g0259 a0001c0001t0007g0027 a0001c0001t0007g0259	3	319	0.0094	-454	c.142 others(17): Show c.142-9445_142-8992del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCGF3_chr4_700832_775089	745838	CCCGGGGG others(447): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGG	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0272 a0001c0001t0003g0272	1	366	0.0027	-454	c.462 others(17): Show c.462+1153_462+1606del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746293	CCCGGGGG others(447): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGG	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18747.hp1 HG02071.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0044 a0001c0001t0003g0045	2	366	0.0055	-454	c.462 others(17): Show c.462+1608_462+2061del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PERM1_chr1_970198_987093	977548	GGGAACCG others(447): Show GGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTC CCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGA ACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCC CGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCT CCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGG AACTGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCA ACCCCGGGAACTGCCTCCCACCACCCCCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCAACCCCGGGAA CCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCAATCCCCCCAA CCCCA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	408	0.0025	-454	c.214 others(17): Show c.2149+879_2150-925del		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288779	GTCTCTGC others(447): Show GTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGA GTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0007 a0006c0010t0007	a0006c0010t0007g0274 a0006c0010t0007g0274	1	290	0.0035	-454	c.166 others(18): Show c.1662+746_1663-1035del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288903	TCCCGTGT others(447): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCC CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCC	T T	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	290	0.0035	-454	c.166 others(17): Show c.1662+888_1663-893del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
TMSB10_chr2_84900656_84911671	84909504	CCTCCACC others(447): Show CCTCCACCATCACACCACCACTACCATTATCATCATCACCATTGCCACCA CCATCACTACCATCACTACTACCATCACCACCTCTACCATCACCATTGCC ACCATCACACCTCAACCACCACACCACTACCATCACCATCACCAATGACC ATTGCCACCACCTTTATCATCACCATCAACAGCACCACTATCACCACACC ACCCTGTCCCCATTGCCACCATCGTCACCACCACCATCCCTATTGCCACC ACCACCACCATCACCATTGCCACCATCACCATCATCTCCACCATCACACC ACCACTACTATTATCATCATCACCATTGCCACCACCACCACTACTACCAT CACCACCTCCACCATCAGCATTGCCAACACCTTCACCATCACCACCACCA CCACCATCCCTATTGCCGCCGCCACCACCATCACCATTGCCACCATCACC ATCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02809.hp2 HG02818.hp2 others(1): Show HG02615.hp1 HG02809.hp2 HG02818.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	356	0.0112	-454	c.30 others(11): Show c.3082_*3535del		TMSB10	ENSG00000034510.6	transcript	ENST00000233143.6	protein_coding					2834		chr2	TogoVar
VCX2_chrX_8164944_8176267	8169405	CCCTCCCT others(447): Show CCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCA CACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTC CCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACAC CACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCC CTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCT CTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCC CACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTC TTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCT CCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCAC CTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	115	0.0087	-454	c.17 others(9): Show c.173_*626del		VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding					538		chrX	TogoVar
ZNF516_chr18_76352682_76500242	76392932	AGGGCAGG others(447): Show AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA GGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTC	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0231 a0001c0001t0083g0231	1	346	0.0029	-454	c.181 others(21): Show c.1811-13083_1811-12630del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF554_chr19_2814868_2841735	2818020	GGTCAGAG others(447): Show GGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGG TGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTG ACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGA GCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAA GAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGG TGACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTG ACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGA GCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAA GAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGA TGACT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0044 a0003c0011t0044	a0003c0011t0044g0207 a0003c0011t0044g0207	1	410	0.0024	-454	c.-20 others(11): Show c.-2051_-1598del		ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding					1847		chr19	TogoVar
APLP2_chr11_130064894_130149805	130091133	CAGAGGGG others(446): Show CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCAC CTCCCTCCCGCACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCTACCTC CCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00621.hp1 others(62): Show HG00408.hp2 HG00423.hp2 HG00621.hp1 HG00735.hp2 HG00741.hp2 HG01243.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02083.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp2 HG04115.hp1 HG04184.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18944.hp2 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18967.hp1 NA18973.hp1 NA18978.hp2 NA18994.hp2 NA18998.hp1 NA19002.hp1 NA19004.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19060.hp2 NA19068.hp2 NA19084.hp1 NA19091.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0010	a0001c0001 a0001c0005 a0002c0002 others(6): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0008 a0007c0007 a0009c0011 a0010c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0005t0016 a0002c0002t0002 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0004c0004t0002 a0004c0004t0003 a0004c0004t0014 a0005c0008t0002 a0007c0007t0002 a0009c0011t0002 a0010c0010t0002	a0001c0001t0001g0152 a0001c0001t0002g0002 a0001c0001t0002g0003 others(60): Show a0001c0001t0001g0152 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0005g0235 a0001c0001t0015g0193 a0001c0005t0016g0212 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0227 a0003c0003t0002g0132 a0003c0003t0004g0185 a0003c0003t0005g0222 a0003c0003t0005g0224 a0003c0003t0005g0237 a0003c0003t0005g0238 a0004c0004t0002g0194 a0004c0004t0003g0006 a0004c0004t0014g0229 a0005c0008t0002g0243 a0005c0008t0002g0244 a0007c0007t0002g0236 a0009c0011t0002g0247 a0010c0010t0002g0210	65	274	0.2372	-453	c.106 others(19): Show c.106-18295_106-17843del		APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16						chr11	TogoVar
BRD9_chr5_858741_897801	897348	TTCAGTGT others(446): Show TTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAG CCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGG GCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAAC AGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGT CAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCC CAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGC TCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAG GTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCA GTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCA GGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG03471.hp2 HG02698.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0010 a0001c0001t0001 a0002c0003t0010	a0001c0001t0001g0075 a0002c0003t0010g0050 a0001c0001t0001g0075 a0002c0003t0010g0050	2	364	0.0055	-453	c.-51 others(11): Show c.-5144_-4692del		BRD9	ENSG00000028310.18	transcript	ENST00000467963.6	protein_coding					4548		chr5	TogoVar
CCDC126_chr7_23592382_23649708	23637252	TGGGGGGG others(446): Show TGGGGGGGGTCAGCCCCCCGCCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCTTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCTCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGG CCAGCCGCCCCTTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCTCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCAGGAGGGA GGTG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02717.hp2 others(3): Show HG02109.hp1 HG02451.hp2 HG02717.hp2 HG02818.hp2 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0171 a0001c0001t0004g0192 a0001c0001t0004g0193 others(3): Show a0001c0001t0004g0171 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0236 a0001c0001t0004g0238 a0001c0001t0004g0301	6	380	0.0158	-453	c.239 others(17): Show c.239-5671_239-5219del		CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
CSNK1G2_chr19_1936172_1986338	1967794	TTCCTCCC others(446): Show TTCCTCCCTCCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGT GGGGCTCCTCCCTCCTCCCTTCTCCCCAGGCTGCCCCCGACCACCCTTCA GTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTTCTCCCCAGGCTGCCCCCG ACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCCAGGCTGCC CCCGACCACCCTTCAGTTCTGCAGGTGGGGGCTCCTCCCTCCTCCCCAGG CTGCCCCCACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCT CCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCT CCCCAGGCTGTCCCTGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCC TCCTCCCTCCTCCCCAGGCTGCCCCAGACCACCCTTCAGTTCTGCAGGTG GGGC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	382	0.0026	-453	c.-26 others(19): Show c.-265-1660_-265-1208del		CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr19	TogoVar

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Search Results (Total: 10000 hits)