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
PLCXD1_chrX_276381_308356	298540	TCTGTCTA others(189): Show TCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATT CTGTCTATCACATGGGGATTACGACGTGGACATCTTTGGGGACATTATTC TGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCT GTCTATCACATGGGGATCAGGACGTGGACATCTTTGGGGCCATTATC	T T	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0088 a0001c0001t0080g0088	1	176	0.0057	-196	c.734 others(15): Show c.734-515_734-320del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLEKHG4B_chr5_87168_194966	165925	GCGGGGCT others(189): Show GCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCT GACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGGGCTCACACTAA TGCTCTGACGGGGCAGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCA CAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0011 a0002c0003t0002 a0002c0003t0011	a0002c0003t0002g0098 a0002c0003t0002g0101 a0002c0003t0011g0210 a0002c0003t0002g0098 a0002c0003t0002g0101 a0002c0003t0011g0210	3	210	0.0143	-196	c.347 others(19): Show c.3476+2389_3476+2584del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PNPLA7_chr9_137454952_137555402	137466811	GGATCAGA others(189): Show GGATCAGACCACCTCCCACCACCGTCTCCATCACCTCAGACCCGGGCACG GATCAGACCACCTCCCACCACCGTCTCCACCAACTCAGACCCGGGCACGG ATCAGACCACCTCCCACCACCGTCTCCACCATCTCAGACCCGGGCACGGA TCAGACCGCCTCCCACCACCGTCTCCACCATCTCAGACCCGTGCACA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18522.hp2 HG02559.hp2 NA18522.hp2	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0001 a0007c0019t0001	a0007c0019t0001g0127 a0007c0019t0001g0128 a0007c0019t0001g0127 a0007c0019t0001g0128	2	188	0.0106	-196	c.303 others(17): Show c.3039+310_3039+505del	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	26/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137514231	CGGGCCCT others(189): Show CGGGCCCTGTGGCTGGGCTGTGGGTGGGTCACCTGGCTGTTGAGATGCCC GGGCCCTGTGGCCGGGCTGTGGGCGGGTCACCTGACTGTTGAGGTGCCCG GGCCCCGTGGCCGGGCTGCGGGCGGGTCACCCGGATGTTGAGGTGCCTGG GCCCTGTGGCTGGGCTGCAGGCGGGTCACTCGGATGTTGATGTGCCG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp1 HG02630.hp2 others(10): Show HG01891.hp1 HG02559.hp1 HG02630.hp2 HG02647.hp1 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp2 NA19030.hp2	a0003 a0004 a0010 others(2): Show a0003 a0004 a0010 a0013 a0021	a0003c0021 a0003c0058 a0004c0007 others(4): Show a0003c0021 a0003c0058 a0004c0007 a0004c0054 a0010c0013 a0013c0023 a0021c0057	a0003c0021t0001 a0003c0058t0001 a0004c0007t0002 others(5): Show a0003c0021t0001 a0003c0058t0001 a0004c0007t0002 a0004c0054t0002 a0010c0013t0001 a0010c0013t0002 a0013c0023t0001 a0021c0057t0001	a0003c0021t0001g0125 a0003c0021t0001g0126 a0003c0058t0001g0176 others(10): Show a0003c0021t0001g0125 a0003c0021t0001g0126 a0003c0058t0001g0176 a0004c0007t0002g0018 a0004c0007t0002g0019 a0004c0007t0002g0181 a0004c0007t0002g0182 a0004c0054t0002g0132 a0010c0013t0001g0166 a0010c0013t0002g0164 a0010c0013t0002g0165 a0013c0023t0001g0174 a0021c0057t0001g0167	13	188	0.0692	-196	c.122 others(18): Show c.1225+952_1225+1147del	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	12/34			chr9	TogoVar
POR_chr7_75910155_75991855	75952072	TGGCTGGC others(189): Show TGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC AGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCA GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0021 a0002c0001t0002g0021	1	278	0.0036	-196	c.-13 others(17): Show c.-13-1873_-13-1678del	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
PRKCA_chr17_66297613_66815743	66358428	CTTCTAGT others(189): Show CTTCTAGTACCTAGAAGGTACTTTGCACATGGTAATGAATACATGTGTGA ATTAATAGATGGTAATCTATTACACTCTACCCATTTCCTTTCTCAAAGAT TCAAGCCTAAGGCTAACATGATATTGAGAAGAAGAAACGTAACTACCTTG CTGTTGACAGTGTAGCAGCAAATGTAATAATGTGTGGAACTTCAGGG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02922.hp1 NA18522.hp2 HG02572.hp1 HG02922.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0021 a0001c0002t0060 a0001c0002t0014 a0001c0002t0021 a0001c0002t0060	a0001c0002t0014g0041 a0001c0002t0021g0115 a0001c0002t0060g0178 a0001c0002t0014g0041 a0001c0002t0021g0115 a0001c0002t0060g0178	3	178	0.0169	-196	c.205 others(19): Show c.205+52304_205+52499del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PYM1_chr12_55896413_55932894	55905791	TATATAAA others(189): Show TATATAAAATAAATAAGTTTTCAAAAATTCTAATTTTCTATATATATTAG ATATATATATTATATATTAGATATATATATATCTATTAGATATATATATT ATTATATATATCTAATAGATATATATATTATTATATATATCTAATAGATA TATATATTATTATATATATCTAATAGATATATATATTATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG02109.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0259 a0001c0001t0002g0260	2	344	0.0058	-196	c.38- others(15): Show c.38-2507_38-2312del	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
RASA3_chr13_113972783_114137623	114104119	TGATGCGT others(189): Show TGATGCGTCCACACTGCCACGGCCACGGACACCCACCCCTGATGCGTCCA CACTGCCCTGGCCACAGACACCCACCCCCGATGCGTCCACGCTGCCACGG CCACGGACACCCACCCCTGATGCGTCCACACTGCCACGGCCACGGACACC CACCCCTGATGCGTCCACGCTGTCCCCGGCCACGGACACCCACCCCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02738.hp2 HG03490.hp1 others(2): Show HG00639.hp1 HG02738.hp2 HG03490.hp1 NA18973.hp2 NA19079.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0008 a0001c0001 a0001c0002 a0003c0008	a0001c0001t0001 a0001c0002t0002 a0003c0008t0002 a0001c0001t0001 a0001c0002t0002 a0003c0008t0002	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0002t0002g0004 a0003c0008t0002g0006	5	67	0.0746	-196	c.55+ others(17): Show c.55+28120_55+28315del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBFOX1_chr16_6014024_7718340	7008892	CCCTCCCT others(189): Show CCCTCCCTCCCTCCCTCACTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT TCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0064 a0001c0001t0040g0064	1	68	0.0147	-196	c.-15 others(19): Show c.-15-43148_-15-42953del	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RGPD1_chr2_86937118_87018976	86942371	GGGCGGCG others(189): Show GGGCGGCGGCCTCGACCTGGCCGGGCGGCGGCCTCGATGGCTCAGGCGTC ATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGCCGGC CTCGACCTGGCCGGGCGGCGGCGGCGGCCTCGACCTGGCCGGGCGGCGGC GGCGGCCTCGACCTGGCCGGGCGGCGGCGGCGGCCTCGACGTGGCCC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03453.hp2 HG02622.hp2 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0006 a0003c0003t0006 a0001c0001t0006 a0003c0003t0006	a0001c0001t0006g0084 a0003c0003t0006g0085 a0001c0001t0006g0084 a0003c0003t0006g0085	2	102	0.0196	-196	c.72+ others(12): Show c.72+78_72+273del	RGPD1	ENSG00000187627.18	transcript	ENST00000641458.2	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RPH3AL_chr17_207389_357807	210039	GCATGTTT others(189): Show GCATGTTTGTGAAATCTCTATATAGATGGTGTCACGTATTTTTCTGCCAC CTGTCTCTTTGTCAGCATTATTGGTGAGATACACATACTCTGAGGGTGGT GACTCAATTTCACCACTGCATAATATTCTATTGTTTGCATATATCACAAT TTATGTACCTATTCTTCTGTTGAAGGCTTTTTTGGTTGCTTCTAAAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02622.hp1 HG02818.hp2 others(2): Show HG01243.hp2 HG02622.hp1 HG02818.hp2 HG02886.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0022 a0001c0001t0031 a0001c0001t0010 a0001c0001t0022 a0001c0001t0031	a0001c0001t0010g0015 a0001c0001t0010g0129 a0001c0001t0010g0131 others(2): Show a0001c0001t0010g0015 a0001c0001t0010g0129 a0001c0001t0010g0131 a0001c0001t0022g0071 a0001c0001t0031g0067	5	133	0.0376	-196	c.36 others(11): Show c.3617_*3812del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		2349		chr17	TogoVar
RPH3AL_chr17_207389_357807	288509	CCTCTCTC others(189): Show CCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCA GACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCA CCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	133	0.0075	-196	c.352 others(17): Show c.352-6851_352-6656del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPL10_chrX_154393377_154407332	154402438	CCCTACCC others(189): Show CCCTACCCCAACCCAGAGCCCACTTTGTCTCCACTCCTGATACTACACTA CCTGGCAGGTGGCATGAGTGCAGGGCCCCTGGCTTCCTCTCCTAATCTAG GCACAAGCCCAACCAAAGAACAAGAGCCAAATCAAACAAGGCAGGCAGGG GTGGACTACAGTCACAGGGCAACTATAGTTGAAGCCCCCCAGCCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02559.hp1 HG02723.hp1 others(2): Show HG01081.hp1 HG02559.hp1 HG02723.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015	5	276	0.0181	-196	c.15 others(11): Show c.1585_*1780del	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		107		chrX	TogoVar
RTEL1_chr20_63653312_63701245	63677697	GCCTGTTG others(189): Show GCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCC CCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCC CTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCC TGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02280.hp1 HG02451.hp1 others(5): Show HG00621.hp1 HG02280.hp1 HG02451.hp1 HG02886.hp1 HG03225.hp1 HG03239.hp1 HG03516.hp2 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0017 a0003c0005	a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0017t0001 a0003c0005t0001	a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 others(5): Show a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0002t0001g0058 a0001c0003t0001g0027 a0001c0017t0001g0053 a0003c0005t0001g0051 a0003c0005t0001g0060	8	60	0.1333	-196	c.920 others(15): Show c.920-348_920-153del	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
SCML4_chr6_107697154_107829313	107783173	TGCTGGTC others(189): Show TGCTGGTCTGAGTTTGCCTGATGGGAGGTGCTGGTCTGAGTTTGCCTGAT GGCAGGTGCTGGTCTGAGTTTGCCTGATGGGAGGTGCTGGTCTGAGTTTG CCTGATGGCAGGTGCTGGTCTGAGTTTGCCTGATGGGAGGTGCTGGTCTG AGTTTGCCTGATGGCAGGTGCTGGTCTGAGTTTGCCTGATGGGAGGA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0156 a0001c0001t0013g0156	1	250	0.0040	-196	c.-59 others(19): Show c.-59-10983_-59-10788del	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107783253	GAGGTGCT others(189): Show GAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAGTTTGCC TGATGGGAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAG TTTGCCTGATGGGAGGAGCTGGTCTGAGTTTGCCTGATGGGAGGTGCTGG TCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAGTTTGCCTGATGGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp1 others(119): Show HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01516.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02056.hp1 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18957.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp2 NA19084.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0002c0004 a0002c0006 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0002t0029 a0001c0003t0007 a0001c0003t0016 a0001c0005t0005 a0001c0005t0011 a0001c0005t0017 a0001c0005t0018 a0001c0005t0030 a0001c0008t0001 a0001c0009t0006 a0001c0010t0007 a0001c0011t0001 a0001c0012t0002 a0002c0004t0002 a0002c0004t0004 a0002c0004t0005 a0002c0004t0020 a0002c0006t0005 a0002c0006t0009 a0002c0007t0007	a0001c0001t0001g0064 a0001c0001t0001g0170 a0001c0001t0002g0062 others(119): Show a0001c0001t0001g0064 a0001c0001t0001g0170 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0093 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0221 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0242 a0001c0001t0003g0006 a0001c0001t0003g0012 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0043 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0080 a0001c0001t0003g0126 a0001c0001t0003g0189 a0001c0001t0004g0054 a0001c0001t0004g0172 a0001c0001t0004g0186 a0001c0001t0004g0188 a0001c0001t0004g0191 a0001c0001t0004g0196 a0001c0001t0004g0201 a0001c0001t0004g0204 a0001c0001t0004g0208 a0001c0001t0004g0215 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0222 a0001c0001t0004g0233 a0001c0001t0004g0246 a0001c0001t0005g0193 a0001c0001t0006g0053 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0008g0169 a0001c0001t0008g0176 a0001c0001t0008g0183 a0001c0001t0008g0190 a0001c0001t0008g0203 a0001c0001t0008g0213 a0001c0001t0008g0223 a0001c0001t0008g0226 a0001c0001t0008g0229 a0001c0001t0008g0239 a0001c0001t0008g0244 a0001c0001t0013g0011 a0001c0001t0013g0050 a0001c0001t0014g0009 a0001c0001t0014g0042 a0001c0001t0019g0137 a0001c0001t0027g0143 a0001c0002t0001g0164 a0001c0002t0002g0247 a0001c0002t0005g0165 a0001c0002t0005g0174 a0001c0002t0005g0180 a0001c0002t0005g0182 a0001c0002t0005g0192 a0001c0002t0005g0197 a0001c0002t0005g0200 a0001c0002t0005g0209 a0001c0002t0005g0210 a0001c0002t0005g0216 a0001c0002t0005g0217 a0001c0002t0005g0230 a0001c0002t0005g0238 a0001c0002t0005g0245 a0001c0002t0009g0067 a0001c0002t0009g0078 a0001c0002t0029g0151 a0001c0003t0007g0045 a0001c0003t0016g0007 a0001c0003t0016g0052 a0001c0003t0016g0220 a0001c0005t0005g0181 a0001c0005t0011g0061 a0001c0005t0011g0081 a0001c0005t0017g0195 a0001c0005t0017g0224 a0001c0005t0018g0205 a0001c0005t0018g0212 a0001c0005t0030g0079 a0001c0008t0001g0250 a0001c0009t0006g0063 a0001c0009t0006g0066 a0001c0010t0007g0044 a0001c0011t0001g0004 a0001c0012t0002g0227 a0001c0012t0002g0228 a0002c0004t0002g0237 a0002c0004t0004g0184 a0002c0004t0004g0225 a0002c0004t0004g0236 a0002c0004t0005g0241 a0002c0004t0020g0243 a0002c0006t0005g0179 a0002c0006t0005g0249 a0002c0006t0009g0041 a0002c0007t0007g0040	122	250	0.4880	-196	c.-59 others(19): Show c.-59-11063_-59-10868del	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SH2D1A_chrX_124341563_124378160	124350755	GATATAAT others(189): Show GATATAATATATTATATATTGTATATAAGATATAATATATTATATATTGT ATATAAGATATAATATATTATATATTGTATATAAGATATAATATATTATA TATTGTATATAAGATATAATATATTATATATTGTATATAAGATATAATAT ATTATATATTGTATATAAGATATATTATATATTGTATATAAGATATA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	318	0.0031	-196	c.137 others(17): Show c.137+3982_137+4177del	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHC2_chr19_411589_466033	443379	TGGGTGGG others(189): Show TGGGTGGGTGGATGAATGGATGGATGGACGGGTGAGTGGATGGGTGGGTG GATGGATGGACAGATGGATGGTTGGATGGGTGGACAGATGGGTGGATGAA TGGATGGATGGATGGGTGGGTGGATGAGTGGATGGGTGGATGGATGGACA GATGGATGGATGGGTGGATGGATGTGTAGGTGGATGGGTGGATGGAC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02148.hp2 HG00733.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0160 a0001c0001t0004g0159 a0001c0001t0001g0160 a0001c0001t0004g0159	2	212	0.0094	-196	c.469 others(17): Show c.469-2643_469-2448del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SLC12A7_chr5_1045384_1117063	1071709	GAGCCCCC others(189): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGC ATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACT TATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0003 a0001c0031t0003	a0001c0031t0003g0007 a0001c0031t0003g0007	1	118	0.0085	-196	c.224 others(19): Show c.2241+1728_2241+1923del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC35F2_chr11_107785991_107863787	107862331	AGGAGGCA others(189): Show AGGAGGCAGAGGTTGCAGTGAGTTGAGATCGTGCCATTGCACTCCAGCCT GGGTGACATAGCAAGACTGTGTCCCCACCACCACCACCACCAAAAAAAGG AGGGAAACAGAAAGAAAAGAAAGTGATATAATGTAAGCAGAGGTTGAAGT GATGCGCTTTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00544.hp1 others(21): Show HG00280.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00741.hp2 HG01167.hp1 HG01169.hp1 HG01496.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02074.hp1 HG02083.hp1 HG02273.hp2 HG03927.hp2 NA18952.hp1 NA18975.hp1 NA18995.hp2 NA19006.hp1 NA19010.hp2 NA19012.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0002g0031 a0001c0001t0002g0036 a0001c0001t0002g0037 others(21): Show a0001c0001t0002g0031 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0081 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0004g0104 a0001c0001t0008g0068 a0001c0001t0008g0075 a0001c0001t0008g0097 a0001c0001t0008g0098 a0001c0001t0008g0106	24	342	0.0702	-196	c.-37 others(11): Show c.-3760_-3565del	SLC35F2	ENSG00000110660.15	transcript	ENST00000525815.6	protein_coding		3545		chr11	TogoVar
SMIM14_chr4_39541336_39643865	39619332	ATATATCA others(189): Show ATATATCAATAAATATAATTTATTCTATATATCAATAAATATAATTTATT CTATATATCAATAAATATAATTTATTCTATATCAATAAATATAATTTATT CTATATCAATAAATATAATTTATTCTATATCAATAAATATAATTTATTCT ATATCAATAAATATAATTTATTCTATATCAATAAATATAATTTATTC	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0285 a0001c0001t0004g0285	1	344	0.0029	-196	c.-35 others(19): Show c.-35-14348_-35-14153del	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7482028	ACTGCGGA others(189): Show ACTGCGGACACCCCTGACGCCGTTCAGACCTGTATCCCCACCGTGGACAC CCCTGGCTACTGTTCAGACCTGTATCCCCACTGCGGACACCCCTGACGCT GTTCAGACCTGTATCCCCGCTGCGGACACCCCTGACGCTGTTCAGACCTG TATCCCCACTGCGGACACCCCTGACGCTGTTCAGACCTGTATCCCCG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01261.hp2 others(8): Show HG01109.hp2 HG01167.hp1 HG01261.hp2 HG01884.hp1 HG02572.hp1 HG02809.hp2 HG02976.hp1 HG02976.hp2 HG03540.hp2 HG03579.hp1 NA20300.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0009 others(7): Show a0001c0001 a0001c0002 a0001c0009 a0001c0015 a0001c0028 a0003c0042 a0003c0046 a0004c0007 a0005c0045 a0007c0056	a0001c0001t0020 a0001c0001t0069 a0001c0002t0004 others(8): Show a0001c0001t0020 a0001c0001t0069 a0001c0002t0004 a0001c0009t0051 a0001c0015t0011 a0001c0028t0028 a0003c0042t0003 a0003c0046t0001 a0004c0007t0001 a0005c0045t0001 a0007c0056t0021	a0001c0001t0020g0052 a0001c0001t0069g0092 a0001c0002t0004g0028 others(8): Show a0001c0001t0020g0052 a0001c0001t0069g0092 a0001c0002t0004g0028 a0001c0009t0051g0042 a0001c0015t0011g0015 a0001c0028t0028g0152 a0003c0042t0003g0066 a0003c0046t0001g0164 a0004c0007t0001g0126 a0005c0045t0001g0148 a0007c0056t0021g0061	11	168	0.0655	-196	c.549 others(19): Show c.549-49482_549-49287del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX5_chr12_23524504_23954670	23837615	ATATATTT others(189): Show ATATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGATATATTTATATTTATATAATATATAAGCTATATTTATATTTAT ATAATATATAAGCTATATTTATATTTATATAATATATAAGCTATATTTAT ATTTATATAATATATAAGCTATATTTATATTTATATAATATATAAGC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02895.hp1 HG02896.hp1 others(1): Show HG01243.hp1 HG02895.hp1 HG02896.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0025 others(1): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0025 a0001c0001t0044	a0001c0001t0004g0209 a0001c0001t0008g0205 a0001c0001t0025g0204 others(1): Show a0001c0001t0004g0209 a0001c0001t0008g0205 a0001c0001t0025g0204 a0001c0001t0044g0206	4	212	0.0189	-196	c.481 others(17): Show c.481+8172_481+8367del	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
STRN3_chr14_30888804_31031379	30993718	CGCCCAGG others(189): Show CGCCCAGGCTGGAGTGCAATAGTGCGATCTCGGCTCACTGCAACCTCGGC CTCGCAGGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTTGGAT TACAGGCACCCGCCACCACACCCAGCTAATTTTTGTGTTTTTAGTAGAGA TGGGGTTTCTTTCTTTTTTTTTTTTAAGATGGAATTTCACTCTTGTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03516.hp1 HG02486.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0031 a0001c0001t0030 a0001c0001t0031	a0001c0001t0030g0305 a0001c0001t0031g0306 a0001c0001t0030g0305 a0001c0001t0031g0306	2	364	0.0055	-196	c.282 others(19): Show c.282+31990_282+32185del	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	1/17			chr14	TogoVar
TIAM2_chr6_154990315_155262723	155027867	CTATATAA others(189): Show CTATATAATATATGTACTGTGTTACATATATACTATATAATATGTACTGT GTTACATATATACTATATATAATATATGTACTGTGTTACATATATACTAT ATATAATATATGTACTGTGTTACATATATACTATATATAATATATGTACT GTGTTATATACTATATATAATATATGTACTGTGTTACATATATACTA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0015 a0001c0053t0015	a0001c0053t0015g0072 a0001c0053t0015g0072	1	230	0.0044	-196	c.-20 others(21): Show c.-209+32414_-209+32609del	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TOLLIP_chr11_1269371_1314632	1287563	GCCTCCCC others(189): Show GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGC CTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC TGCACCCTCTCTGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAC	G G	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0323 a0001c0002t0004g0323	1	348	0.0029	-196	c.519 others(16): Show c.519+865_519+1060del	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TUBGCP2_chr10_133273635_133313872	133291354	TCCGTGTC others(189): Show TCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCT GTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTG TCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGG GAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	284	0.0070	-196	c.121 others(18): Show c.1214+949_1214+1144del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TWIST2_chr2_238843085_238915534	238903852	NNNNNNNN others(189): Show NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNT	N N	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp2 HG01169.hp2 others(37): Show HG00609.hp2 HG00673.hp2 HG01169.hp2 HG01243.hp1 HG01515.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02647.hp1 HG03195.hp1 HG03225.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp2 NA18747.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18952.hp2 NA18962.hp1 NA18962.hp2 NA18971.hp1 NA18973.hp2 NA18983.hp2 NA19010.hp1 NA19057.hp2 NA19063.hp2 NA19091.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0100 a0001c0001t0001g0184 a0001c0001t0001g0258 others(36): Show a0001c0001t0001g0100 a0001c0001t0001g0184 a0001c0001t0001g0258 a0001c0001t0001g0274 a0001c0001t0001g0312 a0001c0001t0001g0321 a0001c0001t0002g0316 a0001c0001t0003g0002 a0001c0001t0003g0020 a0001c0001t0003g0033 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0043 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0065 a0001c0001t0003g0075 a0001c0001t0003g0079 a0001c0001t0003g0083 a0001c0001t0003g0109 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0132 a0001c0001t0003g0146 a0001c0001t0003g0158 a0001c0001t0003g0246 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0271 a0001c0001t0003g0278 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0290 a0001c0001t0003g0294 a0001c0001t0003g0315	40	338	0.1183	-196	c.36 others(17): Show c.36-5990_*36-5795del	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
VPS53_chr17_503668_719839	548386	CATCCAAT others(189): Show CATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT ATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCA TCCAACAACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCAT CCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0142 a0001c0001t0114g0142	1	232	0.0043	-196	c.186 others(19): Show c.1866+3290_1866+3485del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
WNK1_chr12_747579_916452	890083	GCTGGGAT others(189): Show GCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTGTGTTTTT ATTAGAGGCGGGGTTTCGCCATGTTGGCCAGGCCGGTCTCGAACTCCTGA CCTCAAATGATCTGCCCACCTTGACCTCCCAAAATGCTGGGATTACAGGT GTGAGCCACCATGCCTGGCCCTAAAAGGTGCCTTTCTTTACATCAGA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0010 a0007c0010t0010	a0007c0010t0010g0137 a0007c0010t0010g0137	1	284	0.0035	-196	c.544 others(17): Show c.5449-367_5449-172del	WNK1	ENSG00000060237.19	transcript	ENST00000315939.11	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ZDHHC19_chr3_196192452_196216400	196207587	GCCCCCGG others(189): Show GCCCCCGGACGCCCGCCCCTCAGGCCCGACTCCGCCCCGAGCCCCGCCCC GCCCCTGGCCCCGCCCCCAGGCCCGACTCCGCCCCGAGCCCCGCCCCGCC CCCGGACGCCCGCCCCTCAGGCCCGACTCCGCCCCGAGCCCCGCCCCGCC CCTGGCCCCGCCCCTCAGGCCCGACTCCGCCCCGAGCCCCGCCCCGC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02027.hp1 HG02083.hp1 others(9): Show HG01109.hp1 HG02027.hp1 HG02083.hp1 HG02109.hp1 HG02602.hp1 HG02976.hp2 HG03041.hp2 HG03710.hp2 HG03834.hp1 NA18952.hp2 NA19090.hp2 NA20905.hp1	a0002 a0005 a0006 others(1): Show a0002 a0005 a0006 a0011	a0002c0006 a0002c0010 a0005c0008 others(2): Show a0002c0006 a0002c0010 a0005c0008 a0006c0009 a0011c0015	a0002c0006t0004 a0002c0010t0002 a0005c0008t0001 others(5): Show a0002c0006t0004 a0002c0010t0002 a0005c0008t0001 a0005c0008t0005 a0005c0008t0011 a0006c0009t0005 a0006c0009t0008 a0011c0015t0002	a0002c0006t0004g0128 a0002c0010t0002g0242 a0002c0010t0002g0245 others(8): Show a0002c0006t0004g0128 a0002c0010t0002g0242 a0002c0010t0002g0245 a0005c0008t0001g0052 a0005c0008t0005g0060 a0005c0008t0005g0061 a0005c0008t0011g0062 a0006c0009t0005g0058 a0006c0009t0008g0057 a0006c0009t0008g0059 a0011c0015t0002g0280	12	442	0.0272	-196	c.582 others(14): Show c.582-280_582-85del	ZDHHC19	ENSG00000163958.14	transcript	ENST00000296326.8	protein_coding	4/7			chr3	TogoVar
ZIM2_chr19_56769547_56845726	56772632	AAAAAAAA others(189): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATT TGCCAGGCATGGTGACGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCATGAACCCGGAAGGCGGAGCTTGCAGTGAGCTGAGA TCGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGACACTCCATCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01496.hp2 HG02622.hp1 others(7): Show HG00639.hp1 HG01496.hp2 HG02622.hp1 HG02630.hp1 HG02738.hp1 HG03130.hp1 HG03130.hp2 HG03516.hp2 HG06807.hp2 NA18956.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0005 a0010c0018 a0001c0001 a0003c0005 a0010c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0003c0005t0001 a0010c0018t0011	a0001c0001t0001g0184 a0001c0001t0001g0238 a0001c0001t0003g0192 others(7): Show a0001c0001t0001g0184 a0001c0001t0001g0238 a0001c0001t0003g0192 a0001c0001t0003g0203 a0001c0001t0004g0046 a0003c0005t0001g0224 a0003c0005t0001g0225 a0003c0005t0001g0226 a0003c0005t0001g0227 a0010c0018t0011g0208	10	370	0.0270	-196	c.18 others(11): Show c.1860_*2055del	ZIM2	ENSG00000269699.7	transcript	ENST00000629319.3	protein_coding		1914		chr19	TogoVar
ADARB2_chr10_1172313_1742525	1235934	TGACGTAG others(188): Show TGACGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAG CTGTAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACC GTGGCGAAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGG GAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0004 a0002c0002t0007g0004	1	106	0.0094	-195	c.136 others(19): Show c.1362-2284_1362-2090del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AGGF1_chr5_77025404_77070234	77042815	CCCCCCCA others(188): Show CCCCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCGGGGGGCCGACA CCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0223 a0001c0004t0007g0223	1	438	0.0023	-195	c.870 others(17): Show c.870+3103_870+3297del	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
AP3S2_chr15_89825599_89898994	89856714	AAAAAAAA others(188): Show AAAAAAAATATTCGCTGGGCGTGGTGGTGCGCACCTGTAGTCCCAGCTAC TCAGGAGGCTGAGGCATGAGAATTGCTTAAACCCGGGAGGCAGAGGTTAC AGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGA CTCTGTCTTAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0262	1	312	0.0032	-195	c.345 others(19): Show c.345+14566_345+14760del	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
APBB1_chr11_6390125_6424094	6409642	GTATTGTG others(188): Show GTATTGTGTCCGCCACCTGGTAAGGATAGGGGTCTTTCCTAATCTTTCTT AGACCTCCATCTACAAAACTCCAGGGTTTTGGTTGTAACTATAGCCCATT ATCTCCACTCTTTGTTCCTCAGCTTTTCCTGTATTCGCTACACGACATTA GAAAATGTGGAGACTCAGCTTAATTTAAATGGACATATTTAATGAT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG02257.hp2 others(8): Show HG01243.hp1 HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02723.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG03579.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0172 a0001c0001t0001g0212 a0001c0001t0001g0221 others(8): Show a0001c0001t0001g0172 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0326 a0001c0013t0001g0287	11	416	0.0264	-195	c.721 others(15): Show c.721+790_721+984del	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding	2/14			chr11	TogoVar
ATP13A4_chr3_193393967_193559895	193417995	GCCTGTAG others(188): Show GCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGCGAGGTGGCGGGCA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0221 a0001c0001t0014g0221	1	302	0.0033	-195	c.284 others(19): Show c.2843-3440_2843-3246del	ATP13A4	ENSG00000127249.15	transcript	ENST00000342695.9	protein_coding	25/29			chr3	TogoVar
BCL11A_chr2_60452194_60558654	60467830	GGTGGTGG others(188): Show GGTGGTGGTGGTGGTGATGCTACTGGTGGTGATGGTACTGGTGGTGATGG TGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGTGGTGGTGGTA GTGATGGTGGTGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAGT GATGGTGGTGGTAATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01168.hp2 HG01169.hp1 others(5): Show HG00741.hp2 HG01168.hp2 HG01169.hp1 HG01981.hp2 HG02258.hp1 HG02486.hp1 HG03704.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 others(4): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0035 a0001c0001t0039 a0001c0001t0060	a0001c0001t0003g0149 a0001c0001t0007g0092 a0001c0001t0010g0030 others(4): Show a0001c0001t0003g0149 a0001c0001t0007g0092 a0001c0001t0010g0030 a0001c0001t0011g0002 a0001c0001t0035g0080 a0001c0001t0039g0142 a0001c0001t0060g0216	8	262	0.0305	-195	c.487 others(15): Show c.487+707_487+901del	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
C3_chr19_6672704_6725650	6700351	GATATATA others(188): Show GATATATATGTAATATGATATATTATATATGTAATATATGATATATATGT AATATGATATATTATATATGTAATATATGATATATGTAATATGATATATG TAATATATATGTTATATATGTAATATATAATATATGTAATATGATATATT ATATATGTAATATATAATATATGTAATATGATATATTATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(249): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0013 a0014 a0016	a0001c0001 a0001c0002 a0001c0003 others(36): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0013 a0001c0014 a0001c0024 a0001c0025 a0001c0030 a0001c0031 a0001c0032 a0001c0039 a0001c0041 a0001c0043 a0001c0045 a0001c0047 a0001c0051 a0001c0053 a0001c0062 a0002c0015 a0002c0026 a0002c0037 a0003c0036 a0003c0067 a0003c0070 a0003c0071 a0004c0021 a0004c0040 a0005c0027 a0006c0072 a0008c0054 a0009c0042 a0010c0048 a0011c0046 a0013c0044 a0014c0056 a0016c0061	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(38): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0007t0001 a0001c0007t0002 a0001c0013t0001 a0001c0014t0001 a0001c0024t0001 a0001c0025t0001 a0001c0030t0001 a0001c0031t0002 a0001c0032t0001 a0001c0039t0001 a0001c0041t0001 a0001c0043t0001 a0001c0045t0002 a0001c0047t0001 a0001c0051t0001 a0001c0053t0001 a0001c0062t0001 a0002c0015t0001 a0002c0026t0001 a0002c0037t0001 a0003c0036t0001 a0003c0067t0001 a0003c0070t0001 a0003c0071t0001 a0004c0021t0001 a0004c0040t0001 a0005c0027t0001 a0006c0072t0001 a0008c0054t0001 a0009c0042t0001 a0010c0048t0001 a0011c0046t0001 a0013c0044t0001 a0014c0056t0002 a0016c0061t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0026 others(245): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0174 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0204 a0001c0001t0001g0216 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0242 a0001c0001t0001g0303 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0336 a0001c0001t0001g0342 a0001c0001t0001g0350 a0001c0002t0001g0016 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0108 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0169 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0188 a0001c0002t0001g0191 a0001c0002t0001g0208 a0001c0002t0001g0217 a0001c0002t0001g0292 a0001c0002t0001g0333 a0001c0003t0001g0005 a0001c0003t0001g0031 a0001c0003t0001g0090 a0001c0003t0001g0148 a0001c0003t0001g0151 a0001c0003t0001g0213 a0001c0003t0001g0231 a0001c0003t0001g0239 a0001c0003t0001g0244 a0001c0003t0001g0250 a0001c0003t0001g0256 a0001c0003t0001g0257 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0001g0263 a0001c0003t0001g0264 a0001c0003t0001g0265 a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0278 a0001c0003t0001g0279 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0313 a0001c0003t0001g0316 a0001c0003t0001g0321 a0001c0003t0001g0330 a0001c0003t0001g0335 a0001c0004t0001g0102 a0001c0004t0001g0214 a0001c0004t0001g0215 a0001c0004t0001g0232 a0001c0004t0001g0237 a0001c0004t0001g0241 a0001c0004t0001g0248 a0001c0004t0001g0249 a0001c0004t0001g0251 a0001c0004t0001g0252 a0001c0004t0001g0253 a0001c0004t0001g0261 a0001c0004t0001g0262 a0001c0004t0001g0266 a0001c0004t0001g0267 a0001c0004t0001g0270 a0001c0004t0001g0271 a0001c0004t0001g0272 a0001c0004t0001g0277 a0001c0004t0001g0281 a0001c0004t0001g0282 a0001c0004t0001g0283 a0001c0004t0001g0284 a0001c0004t0001g0285 a0001c0004t0001g0296 a0001c0004t0001g0298 a0001c0004t0001g0318 a0001c0004t0001g0319 a0001c0004t0001g0320 a0001c0004t0001g0322 a0001c0004t0001g0329 a0001c0004t0003g0297 a0001c0005t0001g0032 a0001c0005t0001g0034 a0001c0005t0001g0036 a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0005t0001g0040 a0001c0005t0001g0041 a0001c0005t0001g0042 a0001c0005t0001g0043 a0001c0005t0001g0044 a0001c0005t0001g0047 a0001c0005t0001g0049 a0001c0005t0001g0077 a0001c0005t0001g0146 a0001c0005t0001g0147 a0001c0005t0001g0195 a0001c0005t0001g0200 a0001c0005t0001g0201 a0001c0005t0001g0202 a0001c0005t0001g0210 a0001c0005t0001g0211 a0001c0005t0001g0337 a0001c0007t0001g0117 a0001c0007t0001g0129 a0001c0007t0001g0299 a0001c0007t0002g0074 a0001c0007t0002g0083 a0001c0007t0002g0128 a0001c0007t0002g0203 a0001c0007t0002g0226 a0001c0007t0002g0326 a0001c0007t0002g0328 a0001c0013t0001g0004 a0001c0013t0001g0096 a0001c0013t0001g0219 a0001c0013t0001g0221 a0001c0013t0001g0222 a0001c0013t0001g0224 a0001c0014t0001g0037 a0001c0014t0001g0045 a0001c0014t0001g0046 a0001c0014t0001g0194 a0001c0014t0001g0199 a0001c0024t0001g0346 a0001c0024t0001g0347 a0001c0024t0001g0348 a0001c0025t0001g0236 a0001c0025t0001g0294 a0001c0025t0001g0295 a0001c0030t0001g0223 a0001c0030t0001g0225 a0001c0031t0002g0017 a0001c0031t0002g0018 a0001c0032t0001g0198 a0001c0032t0001g0212 a0001c0039t0001g0072 a0001c0041t0001g0076 a0001c0043t0001g0019 a0001c0045t0002g0314 a0001c0047t0001g0035 a0001c0051t0001g0234 a0001c0053t0001g0311 a0001c0062t0001g0100 a0002c0015t0001g0159 a0002c0015t0001g0162 a0002c0015t0001g0163 a0002c0015t0001g0166 a0002c0015t0001g0305 a0002c0015t0001g0309 a0002c0026t0001g0161 a0002c0026t0001g0164 a0002c0026t0001g0308 a0002c0037t0001g0153 a0002c0037t0001g0165 a0003c0036t0001g0167 a0003c0036t0001g0168 a0003c0067t0001g0155 a0003c0070t0001g0157 a0003c0071t0001g0156 a0004c0021t0001g0254 a0004c0021t0001g0255 a0004c0021t0001g0300 a0004c0040t0001g0243 a0005c0027t0001g0009 a0005c0027t0001g0010 a0006c0072t0001g0160 a0008c0054t0001g0028 a0009c0042t0001g0317 a0010c0048t0001g0246 a0011c0046t0001g0051 a0013c0044t0001g0323 a0014c0056t0002g0111 a0016c0061t0001g0178	252	370	0.6811	-195	c.244 others(19): Show c.2440+1581_2440+1775del	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar
C7orf50_chr7_992006_1143247	1067271	CCCAGAGG others(188): Show CCCAGAGGTGCGGGTTTGGGGCACAGTCTGTTGGAGGCTGGAATACACCC AGAGGTGAGGGTTTGGGGCACAGTTTTCACACAGGCTGCAGTGCACCCCA GAGGTGAGGGTTTGGGGCACAGTCTTCACACAGGCTGGAGTGCACCCCAG AGGTGAGGGTTTGGGGCACAGTCTGTTGGTGGAGGCTGGAGTACAT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0005 a0006c0006t0005	a0006c0006t0005g0296 a0006c0006t0005g0296	1	326	0.0031	-195	c.130 others(19): Show c.130-57323_130-57129del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CDH4_chr20_61247261_61945617	61264494	CCTCAGTG others(188): Show CCTCAGTGGCTCCTTCATTCGGTCCTACACATACCCCAGTGGCTCCTTCA TTCAATCTTATACATACCTCAGTGGTTCCTTCATTCAATCTTACACATAC AGTGGCTCCTTCATTCAGTCCTACACATATCTCAGTGGTTCCTTCATTCA ATCTTACACATACCTCAGTGGCTCCTTCATTCAATCTTACACATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03579.hp2 NA18952.hp2 others(1): Show HG00408.hp1 HG03579.hp2 NA18952.hp2 NA18960.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0008 a0002c0009 others(1): Show a0001c0010 a0002c0008 a0002c0009 a0002c0015	a0001c0010t0001 a0002c0008t0025 a0002c0009t0035 others(1): Show a0001c0010t0001 a0002c0008t0025 a0002c0009t0035 a0002c0015t0007	a0001c0010t0001g0027 a0002c0008t0025g0024 a0002c0009t0035g0026 others(1): Show a0001c0010t0001g0027 a0002c0008t0025g0024 a0002c0009t0035g0026 a0002c0015t0007g0025	4	106	0.0377	-195	c.169 others(17): Show c.169+9577_169+9771del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CEP72_chr5_607340_658553	629423	ACCAGTCC others(188): Show ACCAGTCCTGGTGGGATTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGG TGGGGTTCTGTCCAGTGCCGGGATTTGGACCAGTCCTGGTGGGGTTCTGT CCAGTGCCGGGATTTGGACCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGG ATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGC	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 NA19010.hp1 others(1): Show HG01256.hp2 HG01258.hp1 NA19010.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0020 a0003c0003t0002g0022 a0003c0003t0002g0023 others(1): Show a0003c0003t0002g0020 a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0026	4	91	0.0440	-195	c.513 others(17): Show c.513-4331_513-4137del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP97D2_chr13_114174257_114228085	114198640	GGCGCGTC others(188): Show GGCGCGTCCCCGTGTTTACGGTCCCCGCTGAGGCGTGACAGTGGGTCCCC GTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACAGT CCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCTGCTGAGG CGTGACAGTGGGTCCCCGTGTGTACGGTCCCCGCTGAGGCGTGACA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0170	1	400	0.0025	-195	c.172 others(17): Show c.172-1670_172-1476del	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199681	CTGAGGCG others(188): Show CTGAGGCGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGA CGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCC CGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTACGG TCCCCGATGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01255.hp2 HG01346.hp1 HG00140.hp2 HG01255.hp2 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0126 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0001g0126 a0001c0001t0002g0281 a0001c0001t0002g0282	3	400	0.0075	-195	c.172 others(15): Show c.172-617_172-423del	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CHRNA4_chr20_63338223_63366349	63340338	GAATGAAT others(188): Show GAATGAATTATATCATATCCACAAAGATGAGTGAATTACGTCATATCCAC ACAGATGAATGAATTACATCATATCCACAAATACGAGTGAATTACGTCAT ATCCACAAGATGAGTGAATTACATCATATCCACAAAGACGAGTGAATTAC ATCATATCCATACAGATGAATGAATTGCATCATATCCACACAGATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01106.hp2 HG03492.hp1 others(1): Show HG00323.hp2 HG01106.hp2 HG03492.hp1 HG04115.hp2	a0000 a0001 a0000 a0001	a0000c0006 a0001c0001 a0000c0006 a0001c0001	a0000c0006t0015 a0001c0001t0004 a0001c0001t0014 a0000c0006t0015 a0001c0001t0004 a0001c0001t0014	a0000c0006t0015g0032 a0001c0001t0004g0087 a0001c0001t0014g0128 others(1): Show a0000c0006t0015g0032 a0001c0001t0004g0087 a0001c0001t0014g0128 a0001c0001t0014g0129	4	168	0.0238	-195	c.62 others(11): Show c.6205_*6399del	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		2884		chr20	TogoVar
CLDN8_chr21_30209006_30221097	30210219	CATATATA others(188): Show CATATATATATATATATATATATATATAGTCTCCCTAATTGTAATTCAAG GTACGTATGTGTATATATATATATATATATATATATATATATATATATAT ATATATATATAGTCTCCCTAATTCTAATTCAAGGTACATATATATATATA TATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	466	0.0022	-195	c.48 others(11): Show c.4834_*5028del	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3786		chr21	TogoVar
DEF8_chr16_89943755_89973060	89948824	GCGGGGCC others(188): Show GCGGGGCCGGCGGGGTCGGGGCCGGCGGGGACGGGGCCGGCGGGGACGGG GCCGGCGGGGACGGGGTCGGCGGGGTCGGGGCTGGGAGGGACGGGGCCGG CGGGGACGGGGTCGGCGGGGACGGGGCTGGGAGGGACGGGGCCGGCGGGG ACGGGGCCGGCGGGGACGGGGCCGGCGGGGTCGGGGCTGGGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03516.hp1 HG02965.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0082 a0001c0002t0017g0083 a0001c0002t0017g0082 a0001c0002t0017g0083	2	392	0.0051	-195	c.-10 others(16): Show c.-108+25_-108+219del	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEF8_chr16_89943755_89973060	89948914	ACGGGGCC others(188): Show ACGGGGCCGGCGGGGACGGGGTCGGCGGGGACGGGGCTGGGAGGGACGGG GCCGGCGGGGACGGGGCCGGCGGGGACGGGGCCGGCGGGGTCGGGGCTGG GAGGGACGGGGCCGGCGGGGACGGGGTCGGCGGGGTCGGGGCTGGGAGGG ACGGGGCCGGCGGGGACGGGGCCGGCGGGGACGGGGCCGGCGAGGT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02486.hp2 HG01346.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	2	392	0.0051	-195	c.-10 others(17): Show c.-108+121_-107-288del	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DIP2C_chr10_269201_694668	322120	GGGGCTCC others(188): Show GGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCG GGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGG GGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGG GCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0040 a0001c0003t0002g0040	1	88	0.0114	-195	c.392 others(19): Show c.3924+4691_3924+4885del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323198	GGGGGTCC others(188): Show GGGGGTCCGGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCG GGGCTCCGGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGG GGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGG GCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	88	0.0114	-195	c.392 others(19): Show c.3924+3613_3924+3807del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar

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Search Results (Total: 10000 hits)