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
OR2W3_chr1_247890587_247901531	247894083	TCCAGGTG others(239): Show TCCAGGTGCGTCCGTCACCCCTTTCTTTGACTGGGAAAGGGAACTCCCTG ACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCGGCTTGT GCACGGTGCGCGCACCCACTGGCCTGCGCCCACTGTCTGGCACTCCCTAG TGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCTGTCTTCT GCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(92): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01517.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02293.hp2 HG02486.hp2 HG02735.hp1 HG02738.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18942.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18963.hp1 NA18964.hp2 NA18968.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19057.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19081.hp1 NA19082.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0000 a0001 a0002 others(7): Show a0000 a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0000c0005 a0000c0028 a0001c0002 others(11): Show a0000c0005 a0000c0028 a0001c0002 a0001c0003 a0001c0031 a0002c0001 a0003c0004 a0004c0006 a0005c0008 a0005c0013 a0006c0007 a0007c0009 a0008c0010 a0009c0012	a0000c0005t0000 a0000c0028t0000 a0001c0002t0000 others(11): Show a0000c0005t0000 a0000c0028t0000 a0001c0002t0000 a0001c0003t0000 a0001c0031t0000 a0002c0001t0000 a0003c0004t0000 a0004c0006t0000 a0005c0008t0000 a0005c0013t0000 a0006c0007t0000 a0007c0009t0000 a0008c0010t0000 a0009c0012t0000	a0000c0005t0000g0000 a0000c0028t0000g0000 a0001c0002t0000g0000 others(11): Show a0000c0005t0000g0000 a0000c0028t0000g0000 a0001c0002t0000g0000 a0001c0003t0000g0000 a0001c0031t0000g0000 a0002c0001t0000g0000 a0003c0004t0000g0000 a0004c0006t0000g0000 a0005c0008t0000g0000 a0005c0013t0000g0000 a0006c0007t0000g0000 a0007c0009t0000g0000 a0008c0010t0000g0000 a0009c0012t0000g0000	95	388	0.2449	-246	c.-15 others(11): Show c.-1503_-1258del		OR2W3	ENSG00000238243.3	transcript	ENST00000360358.3	protein_coding					1503		chr1	TogoVar
PDZRN4_chr12_41183320_41579745	41505642	CCCTGTTG others(239): Show CCCTGTTGAAAAGCAATGACTGAGGACAAAGGGAGACTTCACCTCTTTCT CTGTAATGTCCAGGGCTACCTTGGAGAGTCATGAATTGGTAGAAATTAAA ACAAGTGAGTATCTAGAGGGACATAATATACCCATTCAGAGGAATTTTAG AGCATTGCTTCTTTCAGTGAATATAAATATAAAGCCGGAATCTTGTGAGT ATGCCAATTCTGATTCAGTGGGTCCAGGGTGGTGCCAGGGATTCTGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00621.hp2 others(17): Show HG00438.hp2 HG00544.hp1 HG00621.hp2 HG02071.hp1 HG02074.hp2 HG02257.hp1 NA18612.hp1 NA18942.hp2 NA18947.hp1 NA18980.hp1 NA18998.hp2 NA19000.hp2 NA19006.hp1 NA19010.hp2 NA19012.hp2 NA19058.hp1 NA19070.hp2 NA19080.hp1 NA19083.hp1 NA19086.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0020	a0001c0011 a0001c0034 a0002c0019 others(5): Show a0001c0011 a0001c0034 a0002c0019 a0002c0055 a0006c0007 a0006c0049 a0007c0045 a0020c0033	a0001c0011t0003 a0001c0034t0003 a0002c0019t0003 others(5): Show a0001c0011t0003 a0001c0034t0003 a0002c0019t0003 a0002c0055t0001 a0006c0007t0003 a0006c0049t0002 a0007c0045t0001 a0020c0033t0006	a0001c0011t0003g0034 a0001c0011t0003g0038 a0001c0011t0003g0052 others(17): Show a0001c0011t0003g0034 a0001c0011t0003g0038 a0001c0011t0003g0052 a0001c0011t0003g0055 a0001c0034t0003g0037 a0002c0019t0003g0167 a0002c0019t0003g0175 a0002c0019t0003g0177 a0002c0055t0001g0205 a0006c0007t0003g0020 a0006c0007t0003g0022 a0006c0007t0003g0024 a0006c0007t0003g0025 a0006c0007t0003g0026 a0006c0007t0003g0027 a0006c0007t0003g0029 a0006c0007t0003g0033 a0006c0049t0002g0028 a0007c0045t0001g0125 a0020c0033t0006g0093	20	206	0.0971	-246	c.844 others(15): Show c.844-813_844-568del		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9						chr12	TogoVar
PRB2_chr12_11386540_11400567	11393678	GTGGAGGA others(239): Show GTGGAGGACCTTGAGGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGC TTTCCTGGAGGAGATCGGGGACTTCGGGACTTGTCTCCTTGTGGGGGTGG TCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTT GTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGAGGC TGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00735.hp1 HG01168.hp1 HG00735.hp1 HG01168.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0048 a0012c0012t0001g0049 a0012c0012t0001g0048 a0012c0012t0001g0049	2	410	0.0049	-246	c.154 others(7): Show c.154_399del	p.Ser others(12): Show p.Ser52_Pro133del	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding	3/4	437/1431	154/1251	52/416			chr12	TogoVar
PRKCZ_chr1_2045411_2190395	2123324	TGGTGGTG others(239): Show TGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTT GTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGT TGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTG TGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTG GCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCAC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	286	0.0035	-246	c.335 others(19): Show c.335-11931_335-11686del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF213_chr17_80255852_80403794	80260541	CCGGCGGC others(239): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGG CGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGG CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00741.hp1 HG01099.hp1 others(14): Show HG00733.hp1 HG00741.hp1 HG01099.hp1 HG01358.hp2 HG01934.hp1 HG01952.hp2 HG02735.hp2 HG02895.hp2 HG03041.hp2 HG06807.hp1 NA18522.hp2 NA18969.hp1 NA19007.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0011 a0012 a0014 a0018 a0022 a0029 a0082 a0087 a0090	a0001c0001 a0001c0003 a0001c0004 others(12): Show a0001c0001 a0001c0003 a0001c0004 a0002c0010 a0003c0005 a0005c0105 a0011c0036 a0012c0123 a0014c0020 a0018c0033 a0022c0126 a0029c0024 a0082c0085 a0087c0098 a0090c0114	a0001c0001t0001 a0001c0003t0001 a0001c0004t0014 others(13): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0014 a0002c0010t0003 a0003c0005t0007 a0005c0105t0021 a0011c0036t0042 a0011c0036t0043 a0012c0123t0015 a0014c0020t0014 a0018c0033t0016 a0022c0126t0067 a0029c0024t0015 a0082c0085t0006 a0087c0098t0001 a0090c0114t0066	a0001c0001t0001g0267 a0001c0003t0001g0271 a0001c0004t0014g0053 others(14): Show a0001c0001t0001g0267 a0001c0003t0001g0271 a0001c0004t0014g0053 a0002c0010t0003g0100 a0003c0005t0007g0058 a0005c0105t0021g0270 a0011c0036t0042g0281 a0011c0036t0043g0280 a0012c0123t0015g0185 a0014c0020t0014g0257 a0018c0033t0016g0275 a0022c0126t0067g0180 a0029c0024t0015g0059 a0029c0024t0015g0060 a0082c0085t0006g0291 a0087c0098t0001g0285 a0090c0114t0066g0258	17	292	0.0582	-246	c.-46 others(9): Show c.-469_-224del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding					310		chr17	TogoVar
RNF213_chr17_80255852_80403794	80260571	CCGGCGGC others(239): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGG CGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGG CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0009 a0005c0007t0009	a0005c0007t0009g0218 a0005c0007t0009g0218	1	292	0.0034	-246	c.-43 others(9): Show c.-439_-194del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding					280		chr17	TogoVar
RPP40_chr6_4989717_5009037	4990544	TGTGATCA others(239): Show TGTGATCATTGCTCACCGCAGCCTTCAATTCCTAGGCTCAAGCAATCATC CTGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGCATGTGCTACCATGCC TGGCTAATTTTTTTTTTTTTTTTTTTGGAATCTCGCTATGTTGTCCAGTC TGTCCTTGAACTCCTGGCTTCAAGTGATCCTCCCACCTCAACTTCCCAAC ATGCTGGGAATACAGGTGCGAGCCACCACGCCTAGCCCTAGATTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	360	0.0028	-246	c.42 others(11): Show c.4288_*4533del		RPP40	ENSG00000124787.14	transcript	ENST00000380051.7	protein_coding					4172		chr6	TogoVar
SCNN1D_chr1_1275436_1297025	1289067	TCCGTCCC others(239): Show TCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCC	T T	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0022 a0022	a0022c0040 a0022c0040	a0022c0040t0012 a0022c0040t0012	a0022c0040t0012g0159 a0022c0040t0012g0159	1	290	0.0035	-246	c.166 others(18): Show c.1662+1038_1663-951del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SEZ6L_chr22_26164462_26388596	26308231	AGATTGGA others(239): Show AGATTGGATAATGGATCCAAAAATACAGAGGGAGGGGTATTCCAAGCATG GAGAATTGGAGGATGAGCACAAAGATGGAGGGGAAAGAATTAGCAAATTT GTTGGGGGGCTGCAGCAGAAGCTCTCATGAGAACAGGAGGAAAGAGATCT GGGAAGCTAGATTGGGGTTATATCCTGAAGGATTTTGAATGCCAGGCTAC TTTTATAGGCAATAGAGAGCCTATAAAAGTCTTTTTAGTCGAGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0074 a0002c0002t0004g0075 a0002c0002t0004g0074 a0002c0002t0004g0075	2	240	0.0083	-246	c.151 others(19): Show c.1514+2090_1515-2191del		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	6/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT2_chr10_7153624_7416034	7378216	GATGGATG others(239): Show GATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTACGTGTGGATGGGTG ATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTGG ATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTGA TGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTGGA TGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA21309.hp2 HG02145.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0006 a0001c0001t0001 a0001c0006t0006	a0001c0001t0001g0070 a0001c0006t0006g0066 a0001c0001t0001g0070 a0001c0006t0006g0066	2	144	0.0139	-246	c.100 others(17): Show c.100+3337_100+3582del		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	2/20						chr10	TogoVar
SGTA_chr19_2749715_2788273	2772765	ATGGGTGA others(239): Show ATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGATGGGTGAC GCGGCCACAGGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACA GGGCAGGGACACCGAGGGCAGAAATGGGTGACGCGGCCACAGGGCAGGGA CACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGG CAGAGGTGGGTGACGCAGCCACACGGCAGGGACTCCGAGGGCAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19085.hp2 HG02451.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0005 a0001c0002t0002 a0001c0003t0005	a0001c0002t0002g0035 a0001c0003t0005g0334 a0001c0002t0002g0035 a0001c0003t0005g0334	2	396	0.0051	-246	c.-23 others(17): Show c.-23-3920_-23-3675del		SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11						chr19	TogoVar
SGTA_chr19_2749715_2788273	2773074	AGGGACAC others(239): Show AGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACC GAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACTCCGAGGGCAGA GGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGATGGGTGA CGCGGCCACACGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCAC AGGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18522.hp2 NA19043.hp2 HG02486.hp2 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0004 a0001c0009t0010 a0001c0003t0004 a0001c0009t0010	a0001c0003t0004g0063 a0001c0009t0010g0179 a0001c0009t0010g0180 a0001c0003t0004g0063 a0001c0009t0010g0179 a0001c0009t0010g0180	3	396	0.0076	-246	c.-23 others(17): Show c.-23-4229_-23-3984del		SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11						chr19	TogoVar
SGTA_chr19_2749715_2788273	2773367	ACCGAGGG others(239): Show ACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACTCCGAGGGC AGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGATGGG TGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGGC CACAGGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCA GGGACACCGAGGGCAGAGGTGGGTGACACGGCCACACGGCAGGGACT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0335 a0001c0003t0005g0335	1	396	0.0025	-246	c.-23 others(17): Show c.-23-4522_-23-4277del		SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11						chr19	TogoVar
SGTA_chr19_2749715_2788273	2773484	AGGGACAC others(239): Show AGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACAGGGCAGGGACACC GAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGA GGTGGGTGACACGGCCACACGGCAGGGACTCCGAGGGCAGAGATGGGTGA CGCGGCCACAGGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCAC ACGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCG	A A	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0132 a0001c0004t0003g0132	1	396	0.0025	-246	c.-23 others(17): Show c.-23-4639_-23-4394del		SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11						chr19	TogoVar
SHOX_chrX_625791_656584	647276	AGCCTCCC others(239): Show AGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAA CTTTCTGGTATTTTTAGTAGAGACAGGGTTTCAGCCTCCCGAGTAGCTGG GATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGT AGAGACAGGGTTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCA CCAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAGACAGGGTTTCG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG03017.hp1 others(3): Show HG01516.hp2 HG01517.hp2 HG03017.hp1 HG03831.hp2 HG03927.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0003 a0001c0001t0022 a0001c0001t0158 others(2): Show a0001c0001t0003 a0001c0001t0022 a0001c0001t0158 a0001c0001t0159 a0003c0006t0160	a0001c0001t0003g0001 a0001c0001t0022g0050 a0001c0001t0158g0139 others(2): Show a0001c0001t0003g0001 a0001c0001t0022g0050 a0001c0001t0158g0139 a0001c0001t0159g0172 a0003c0006t0160g0065	6	220	0.0273	-246	c.27 others(11): Show c.2722_*2967del		SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5				2722	INFO_REALIGN_3_PRIME	chrX	TogoVar
SHOX_chrX_625791_656584	647358	AGCCTCCC others(239): Show AGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAA CTTTCTGGTATTTTTAGTAGAGACAGGGTTTCAGCCTCCCGAGTAGCTGG GATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGT AGAGACAGGGTTTCGGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCA CCAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAGACAGGGTTTCG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18948.hp2 NA18980.hp1 NA18948.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0002	2	220	0.0091	-246	c.29 others(11): Show c.2955_*3200del		SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5				2955	INFO_REALIGN_3_PRIME	chrX	TogoVar
SHOX_chrX_625791_656584	647604	GGCCTCCC others(239): Show GGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAA CTTTCTGGTATTTTTAGTAGAGACAGGGTTTCAGCCTCCCGAGTAGCTGG GATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGT AGAGACAGGGTTTCGGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCA CCAGGCCTGGGTAACTTTCTGGTATTTTTAGTACAGACAGGGTTTCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp1 NA20300.hp2 HG02818.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0117 a0001c0001t0008g0130 a0001c0001t0008g0117 a0001c0001t0008g0130	2	220	0.0091	-246	c.30 others(11): Show c.3050_*3295del		SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5				3050	INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC22A1_chr6_160116815_160163718	160126212	GGGATGTG others(239): Show GGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCT TCTGGTGCTAAGATCATGAGGTCCACTCGGGGGGTATGTGGGCATTTTCC TGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGATCATG AGGTCCACTTGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCA ACAAGAGGATCTCCTCTGCTGCTAAGATCATGAGGTCCACTCGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02280.hp2 others(2): Show HG01884.hp1 HG02258.hp1 HG02280.hp2 HG03209.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0230 a0001c0002t0001g0297 a0001c0002t0001g0298 others(2): Show a0001c0002t0001g0230 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0003g0226	5	416	0.0120	-246	c.411 others(17): Show c.411+3869_412-3644del		SLC22A1	ENSG00000175003.15	transcript	ENST00000366963.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC2A3_chr12_7914230_7941187	7914265	GATGTTTC others(239): Show GATGTTTCAAAATTTATGTTTACCAGTTTCTTATTGGGATATTTAGGTTT TATTTTTTATTTATTTTATTTATGTTTTTGAGACAGAGTCTTGCTCTGTC GCCCAGGCTGGAGCGCAGTGGCGGGATATCGGCTCACTGCAAGCTCCACC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACT ACAGGCGCCCGCCAGCCACCATGCCCGGCTAATTTTTTGTATTTTTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	420	0.0024	-246	c.69 others(11): Show c.6902_*7147del		SLC2A3	ENSG00000059804.17	transcript	ENST00000075120.12	protein_coding					4964		chr12	TogoVar
SORCS2_chr4_7187538_7747827	7386971	CACACATG others(239): Show CACACATGCACACACATGCCCACCATACACATGCACACATGCACACACAG ATACACAGAAATACACACATGCACACACACATAGGTACATGCATGCACAC ATGCACACACAGATACAGAGATACACATGCACATACATACACATATGCAC ACACATACAGGTACACAGAGATACACACATATGCACACATGCACACACAC ATGCCCACCATACACATGCACACATGCACACACAGATACACAGAAAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0151 a0001c0009t0001g0151	1	168	0.0060	-246	c.481 others(17): Show c.481-9311_481-9066del		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
STARD13_chr13_33098137_33290755	33177748	AAAAAAGG others(239): Show AAAAAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01123.hp1 HG01255.hp1 others(6): Show HG00323.hp1 HG01123.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01515.hp1 HG04199.hp1 HG04204.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0001t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0073 a0001c0001t0001g0260 a0001c0002t0002g0050 others(6): Show a0001c0001t0001g0073 a0001c0001t0001g0260 a0001c0002t0002g0050 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0212 a0001c0002t0002g0222 a0001c0002t0002g0289 a0001c0002t0003g0281	9	302	0.0298	-246	c.170 others(19): Show c.170-10372_170-10127del		STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13						chr13	TogoVar
STON1_chr2_48525154_48603513	48555778	CCCCCCCA others(239): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGA CCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGCGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGCGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0012 a0006c0011t0012	a0006c0011t0012g0193 a0006c0011t0012g0193	1	376	0.0027	-246	c.-47 others(19): Show c.-47-24802_-47-24557del		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48555965	GGGGGGGC others(239): Show GGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGC GGGGCGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGG GGCGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCAGGC	G G	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	376	0.0027	-246	c.-47 others(19): Show c.-47-24603_-47-24358del		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
TFCP2L1_chr2_121211587_121290202	121225794	CGGTAAAC others(239): Show CGGTAAACACCACTGCCACGGTGCCCACACACACGGGAACACGGTAAACA CCACTGCCACGGTGCCCACACACAAGGGAACACGGTAAACACCACTGCCA CGGTGTCCACACACACGGGAACGTGGTAAACACCACTGCCACGGTGTCTA CACACACGGGAACACGGTAAACACCACTGCCACGGTGCCCACACACACGG GAACACGGTAAACACCACTGCCACGGTGTCCATACACACGGGAACGT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02818.hp2 HG02886.hp1 others(4): Show HG02280.hp2 HG02818.hp2 HG02886.hp1 HG03139.hp1 HG03195.hp1 HG03471.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0026 a0001c0002t0032 others(1): Show a0001c0002t0017 a0001c0002t0026 a0001c0002t0032 a0001c0002t0044	a0001c0002t0017g0211 a0001c0002t0017g0212 a0001c0002t0017g0214 others(4): Show a0001c0002t0017g0211 a0001c0002t0017g0212 a0001c0002t0017g0214 a0001c0002t0026g0229 a0001c0002t0026g0234 a0001c0002t0032g0012 a0001c0002t0044g0054	7	378	0.0185	-246	c.134 others(17): Show c.1342-427_1342-182del		TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding	13/14						chr2	TogoVar
TMEM132D_chr12_129066726_129909025	129190289	AGGCCTGC others(239): Show AGGCCTGCAGATGGAGGGAGGGGTCTCGGCCTGCAGATGGAGGGAGGGGT CTTGGGGGCCTGCAGATGGAGGGAGGGAGTCTCAGGCCTGCAGATGGAGG GAGGGAGTCTCAGGCCTGCAGATGGAGGGAGGGGTCTCGGCCTGCAGATG GAGGGAGGGAGTCTCAGGCCTGCAGATGGAGGGAGGGAGTCTCAGGCCTG CAGATGGAGGGAGGGGTCTCAGGCCTGCAGATGGAGGGAGGGGTCTC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03471.hp1 HG02145.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0006 a0001c0001t0010	a0001c0001t0006g0051 a0001c0001t0010g0034 a0001c0001t0006g0051 a0001c0001t0010g0034	2	94	0.0213	-246	c.144 others(21): Show c.1443+18985_1443+19230del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8						chr12	TogoVar
TRPM4_chr19_49152792_49216836	49216459	AGGAACTC others(239): Show AGGAACTCGGTGTAATCCGACCCACAAATCCAGAAGATTGAGCACAGGCA ATGGCAGTGCATCAGGTGGAAATAAGAAATAAAGTGTTGGCCGGGCGCCA TGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGACAGGTGGATC ACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCC ATGTCTACTAAAAATACAAAATTAGACAGGCATGGTGGCGCATGCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0086 a0001c0030t0001g0086	1	312	0.0032	-246	c.49 others(11): Show c.4962_*5207del		TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding					4624		chr19	TogoVar
TUBGCP2_chr10_133273635_133313872	133292047	GTGTCCCC others(239): Show GTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTCCGT GTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGGGAGCCC TACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCT CCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGA GGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0122 a0001c0001t0009g0122	1	284	0.0035	-246	c.121 others(17): Show c.1214+206_1214+451del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TXK_chr4_48061393_48139250	48104316	TAATATAT others(239): Show TAATATATAATATAATATATAATATATATAATATATAATATAATATATAA TATATATAATATATAATATTATATATAATATATATAATATATAATATTAT ATATAATATATATAATATATAATATTATATATAATATATATAATATATAA TATTATATATTATATATATAATATATAATATTATATATTATATATATAAT ATATAATATTATATATTATATATATTTTATATATATAATATATAATA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	362	0.0028	-246	c.501 others(15): Show c.501+339_501+584del		TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14						chr4	TogoVar
VGLL4_chr3_11551069_11648915	11605050	GCCCACCC others(239): Show GCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCC CCCACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATC TTCCAAAGCGCCCCACGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGT GAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATCCT CCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp1 HG02135.hp2 others(9): Show HG00423.hp2 HG00673.hp1 HG02135.hp2 HG02523.hp1 HG02683.hp2 HG03491.hp2 HG03540.hp1 NA18747.hp2 NA18955.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0002 a0001c0002t0003 a0001c0002t0033 others(3): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0033 a0001c0004t0002 a0001c0005t0002 a0001c0005t0003	a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0255 others(9): Show a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0255 a0001c0002t0003g0223 a0001c0002t0033g0222 a0001c0004t0002g0286 a0001c0005t0002g0225 a0001c0005t0003g0224 a0001c0005t0003g0227 a0001c0005t0003g0228 a0001c0005t0003g0232 a0001c0005t0003g0233	12	388	0.0309	-246	c.83- others(15): Show c.83-3274_83-3029del		VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4						chr3	TogoVar
VWA8_chr13_41561835_41966109	41863184	GGTCTAGC others(239): Show GGTCTAGCCTCCCAGCCTACATCTTTCTCGCGTGCTGGATGCTTCCTGCC CTCAAACATCAGAGTCCACATTCTCCAGTTTTGAGACTTGGAGTGGCTCT CCTTGCTCCTCAAGCTTGCAGACAGCCTATTGTGGGACCTTGTGATGGTG TAAGTTAGTACTTAATAAACTCCTCTTTATATATATATATGTGTGTGTGT GTATCTCCTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03540.hp1 HG02970.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0006 a0001c0001t0002g0007	2	250	0.0080	-246	c.142 others(19): Show c.1425+2306_1425+2551del		VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	12/44						chr13	TogoVar
WDR72_chr15_53508741_53764663	53664407	TCTAAACC others(239): Show TCTAAACCTAAAAAGCTAAAGATTACATGCTAGCACCCCTGCCCCAACTC TACTGCTTTGAGGCATGGCTTTAATGGCCCATTGGCCTTTCTTGATGATG ACACATTATTTTGCCTAACTATATACATACACCTGAGATAAAATAAGGTC TTATTCTAAGTCCTTATTAATAGTATATTACTAGCCTTCAAAATACCATT AAAATAACAGAAAAGATGAACAATATGTAATTAAAAATCAGCAAAAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03225.hp1 HG03516.hp2 HG02258.hp2 HG03225.hp1 HG03516.hp2	a0001 a0016 a0001 a0016	a0001c0002 a0016c0021 a0001c0002 a0016c0021	a0001c0002t0049 a0001c0002t0064 a0016c0021t0063 a0001c0002t0049 a0001c0002t0064 a0016c0021t0063	a0001c0002t0049g0179 a0001c0002t0064g0182 a0016c0021t0063g0175 a0001c0002t0049g0179 a0001c0002t0064g0182 a0016c0021t0063g0175	3	316	0.0095	-246	c.196 others(18): Show c.1962+919_1962+1164del		WDR72	ENSG00000166415.15	transcript	ENST00000360509.10	protein_coding	14/19						chr15	TogoVar
ZNF516_chr18_76352682_76500242	76392820	TAGTCAGG others(239): Show TAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02976.hp1 HG02451.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0025 a0002c0021 a0001c0025 a0002c0021	a0001c0025t0055 a0002c0021t0154 a0001c0025t0055 a0002c0021t0154	a0001c0025t0055g0180 a0002c0021t0154g0275 a0001c0025t0055g0180 a0002c0021t0154g0275	2	346	0.0058	-246	c.181 others(21): Show c.1811-12763_1811-12518del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ACTN2_chr1_236681499_236769631	236755707	TGTTAGAA others(238): Show TGTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACT GTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTG TTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGT TAGAACCGTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTT AGAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp1 NA18906.hp1 HG02109.hp2 HG02572.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0031 a0001c0001 a0001c0031	a0001c0001t0005 a0001c0031t0005 a0001c0001t0005 a0001c0031t0005	a0001c0001t0005g0055 a0001c0001t0005g0080 a0001c0031t0005g0053 a0001c0001t0005g0055 a0001c0001t0005g0080 a0001c0031t0005g0053	3	344	0.0087	-245	c.215 others(17): Show c.2154+524_2154+768del		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756913	GCAGAGTG others(238): Show GCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTG CAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACTAC AGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCA GAGTGCCTGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAG AGGGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATATACTA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0019 a0001c0001t0012g0019	1	344	0.0029	-245	c.215 others(17): Show c.2155-518_2155-274del		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
AHRR_chr5_316714_443285	391438	CGGGCGCA others(238): Show CGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGC GGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAG GGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGAGG GCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGG CGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01123.hp1 HG01255.hp2 others(9): Show HG00741.hp1 HG01123.hp1 HG01255.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02080.hp1 HG02132.hp2 HG02698.hp2 NA19060.hp1 NA20300.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0002 a0013c0015 a0001c0001 a0002c0002 a0013c0015	a0001c0001t0005 a0001c0001t0016 a0001c0001t0040 others(3): Show a0001c0001t0005 a0001c0001t0016 a0001c0001t0040 a0002c0002t0011 a0002c0002t0026 a0013c0015t0005	a0001c0001t0005g0054 a0001c0001t0005g0088 a0001c0001t0005g0089 others(9): Show a0001c0001t0005g0054 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0094 a0001c0001t0005g0112 a0001c0001t0016g0065 a0001c0001t0016g0066 a0001c0001t0040g0051 a0002c0002t0011g0040 a0002c0002t0026g0119 a0002c0002t0026g0136 a0013c0015t0005g0115	12	268	0.0448	-245	c.351 others(19): Show c.351+14733_351+14977del		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391449	CGAGGCAG others(238): Show CGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGT GAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCG AGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGAGGGCGCAGGGCGA GGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGGCGCAGGGTGAG GCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0090 a0001c0001t0005g0090	1	268	0.0037	-245	c.351 others(19): Show c.351+14755_351+14999del		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391471	CGGGGGCA others(238): Show CGGGGGCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCAT GGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACG GGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGG ACACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGG GGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCAT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0051 a0002c0002t0051	a0002c0002t0051g0097 a0002c0002t0051g0097	1	268	0.0037	-245	c.351 others(19): Show c.351+14771_351+15015del		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391487	CGGGCGCA others(238): Show CGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGA GGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGAG GGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGG GCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGG CGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0016 a0001c0001t0059g0016	1	268	0.0037	-245	c.351 others(19): Show c.351+14782_351+15026del		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
ARNT2_chr15_80399382_80602933	80409339	TTTCAAAC others(238): Show TTTCAAACTGGCATTTTTCACTTAATAATATGCATTTACATTTTCTCTGT ATCTTTCAGTGGCTTGATAGCTCATTTGTTTTGGTGCCGAAGAATATTCC ATTGTCTGGATGTACCACAGTTTATTTATTCATTCACCTACTGAAGGACA TCTGGGTTGCTTCTAAGTTTTGGCAATTATGACGAATGAAGCTGCTAGGG GCTAATACTTACTGAGTAACTACTATGTGCCGGGGACTGATCTTGG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0102 a0001c0001t0049g0102	1	268	0.0037	-245	c.31+ others(15): Show c.31+4797_31+5041del		ARNT2	ENSG00000172379.22	transcript	ENST00000303329.9	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr15	TogoVar
CEP131_chr17_81184596_81227965	81209649	GGAGAAGC others(238): Show GGAGAAGCGGACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCGGACGCT AAGCGAGGATCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAC CGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCGG ACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGAT CAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGACCGCTCC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01934.hp1 HG02257.hp2 others(7): Show HG00735.hp1 HG01934.hp1 HG02257.hp2 HG02258.hp1 HG02630.hp1 HG02896.hp2 HG03492.hp1 NA18955.hp2 NA19043.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0031	a0001c0001 a0001c0019 a0002c0002 others(3): Show a0001c0001 a0001c0019 a0002c0002 a0003c0008 a0003c0031 a0031c0043	a0001c0001t0001 a0001c0019t0001 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0019t0001 a0002c0002t0002 a0003c0008t0003 a0003c0031t0007 a0031c0043t0001	a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0019t0001g0170 others(7): Show a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0019t0001g0170 a0002c0002t0002g0042 a0002c0002t0002g0105 a0002c0002t0002g0120 a0003c0008t0003g0308 a0003c0008t0003g0320 a0003c0031t0007g0027 a0031c0043t0001g0248	10	384	0.0260	-245	c.178 others(15): Show c.178-872_178-628del		CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25						chr17	TogoVar
CNIH4_chr1_224351879_224384452	224378516	ACTGAGGC others(238): Show ACTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG CTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGC TGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCT GAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTG AGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0028 a0001c0001t0031g0028	1	324	0.0031	-245	c.28 others(11): Show c.2849_*3093del		CNIH4	ENSG00000143771.12	transcript	ENST00000465271.6	protein_coding	5/5				2849	INFO_REALIGN_3_PRIME	chr1	TogoVar
CNOT6_chr5_180489379_180583358	180534612	GGGGGTCC others(238): Show GGGGGTCCGAGAGGCCCTCGGAATCCACCATGGCATGGGCCGGAGTCGCT GGGGTCCGAGAGGCCCTCGGAATCCACCATGGCATGGGCCGGAGTCCCTG GGGTCCGAGAGGCCCTCGGAATCCACCATGGCATGGGCCGGAGTCCCTGG GGTCCGAGAGGCCCTCGGAATCCACCATGGCATGGGCCGGAGTCCCTGGG GTCCGAGAGGCCCTCGGAATCCACCATGGCATGGGCCGGAGTCCCT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02572.hp2 others(6): Show HG01891.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02976.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0021 a0001c0002t0005g0022 a0001c0002t0005g0023 others(6): Show a0001c0002t0005g0021 a0001c0002t0005g0022 a0001c0002t0005g0023 a0001c0002t0005g0024 a0001c0002t0005g0025 a0001c0002t0005g0026 a0001c0002t0005g0027 a0001c0002t0005g0028 a0001c0002t0005g0330	9	334	0.0270	-245	c.112 others(17): Show c.112+5438_112+5682del		CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CNOT6_chr5_180489379_180583358	180534826	CGGAATCC others(238): Show CGGAATCCACCATGGCATGGGCCGGAGTCCCTGGGGTCCGAGAGGCCCTC GGAATCCACCATGGCATGGGCCGGAGTCGCTGGGGTCCGAGAGGCCCTCG GAATCCACCATGGCATGGGCCGGAGTCCCTGGGGTCCGAGAGGCCCTCGG AATCCACCATGGCATGGGCCGGAGTCCCTGGGGTCCGAGAGGCCCTCGGA ATCCACCATGGCATGGGCCGGAGTCCCTGGGGTCCGAGAGGCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00738.hp2 others(57): Show HG00280.hp2 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp1 HG01993.hp1 HG02027.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02683.hp2 HG02895.hp2 HG02896.hp1 HG03017.hp1 HG03130.hp1 HG03195.hp2 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18977.hp1 NA18980.hp1 NA18984.hp1 NA18990.hp2 NA18995.hp1 NA19043.hp1 NA19085.hp1 NA19090.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017 a0001c0001t0023 a0001c0001t0027 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0043 a0001c0001t0044 a0001c0001t0064	a0001c0001t0001g0168 a0001c0001t0002g0176 a0001c0001t0003g0170 others(57): Show a0001c0001t0001g0168 a0001c0001t0002g0176 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0184 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0195 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0205 a0001c0001t0003g0207 a0001c0001t0003g0211 a0001c0001t0003g0290 a0001c0001t0009g0010 a0001c0001t0009g0014 a0001c0001t0009g0015 a0001c0001t0009g0173 a0001c0001t0009g0177 a0001c0001t0009g0178 a0001c0001t0009g0183 a0001c0001t0009g0199 a0001c0001t0009g0206 a0001c0001t0009g0210 a0001c0001t0010g0016 a0001c0001t0010g0182 a0001c0001t0010g0187 a0001c0001t0010g0193 a0001c0001t0010g0194 a0001c0001t0010g0198 a0001c0001t0010g0208 a0001c0001t0010g0209 a0001c0001t0014g0167 a0001c0001t0014g0174 a0001c0001t0014g0175 a0001c0001t0014g0185 a0001c0001t0014g0202 a0001c0001t0017g0161 a0001c0001t0017g0162 a0001c0001t0017g0164 a0001c0001t0017g0165 a0001c0001t0017g0166 a0001c0001t0023g0009 a0001c0001t0023g0196 a0001c0001t0023g0203 a0001c0001t0027g0186 a0001c0001t0027g0190 a0001c0001t0033g0031 a0001c0001t0033g0033 a0001c0001t0035g0017 a0001c0001t0036g0192 a0001c0001t0037g0171 a0001c0001t0043g0204 a0001c0001t0044g0169 a0001c0001t0064g0163	60	334	0.1796	-245	c.112 others(17): Show c.112+5472_112+5716del		CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CPNE7_chr16_89570758_89602246	89587765	CACCCACA others(238): Show CACCCACAGAAACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCG TGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTTACCCACAGA TACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCC GTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACA GATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG03195.hp1 others(4): Show HG02280.hp1 HG02451.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0006 a0001c0001t0001 a0001c0007t0006	a0001c0001t0001g0252 a0001c0007t0006g0071 a0001c0007t0006g0158 others(4): Show a0001c0001t0001g0252 a0001c0007t0006g0071 a0001c0007t0006g0158 a0001c0007t0006g0159 a0001c0007t0006g0162 a0001c0007t0006g0166 a0001c0007t0006g0282	7	348	0.0201	-245	c.927 others(15): Show c.927+673_928-656del		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
DCDC2C_chr2_3698575_3853008	3786348	CGTGTGTC others(238): Show CGTGTGTCCCGCCTGTGCACGGAGCCTCCGGTGCGGGTGTGTCCCGCCTG TGCACGGAGCCTCCGGTGCGGGTGTGTCCCGCCTGTGCACGGAGCCTCCG GTGCGGGTGTGTCCCGCCTGTGCACGGAGCCTCCGGTGCGGGTGTGTCCC GCCTGTGCACGGAGCCTCCGGTGCGGGTGTGTCCCGCCTGTGCACGGAGC CTCCGGTGCGGGTGTGTCCCGCCTGTGCACGGAGCCTCCGGTGCGG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00642.hp2 others(41): Show HG00280.hp1 HG00438.hp1 HG00642.hp2 HG00733.hp1 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01257.hp1 HG01496.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02074.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02683.hp1 HG02738.hp1 HG02970.hp2 HG03209.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03927.hp1 NA18522.hp1 NA18957.hp2 NA18963.hp2 NA18971.hp2 NA18989.hp1 NA18992.hp2 NA18995.hp1 NA19003.hp2 NA19065.hp1 NA19074.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(1): Show a0000 a0001 a0002 a0005	a0000c0011 a0001c0001 a0001c0002 others(4): Show a0000c0011 a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0005c0010	a0000c0011t0023 a0001c0001t0001 a0001c0001t0002 others(19): Show a0000c0011t0023 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0021 a0001c0002t0002 a0001c0002t0005 a0001c0002t0014 a0001c0006t0010 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0017 a0002c0004t0001 a0002c0004t0002 a0005c0010t0019	a0000c0011t0023g0046 a0001c0001t0001g0104 a0001c0001t0002g0017 others(41): Show a0000c0011t0023g0046 a0001c0001t0001g0104 a0001c0001t0002g0017 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0033 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0110 a0001c0001t0002g0117 a0001c0001t0002g0160 a0001c0001t0002g0245 a0001c0001t0002g0307 a0001c0001t0003g0023 a0001c0001t0003g0105 a0001c0001t0004g0266 a0001c0001t0004g0275 a0001c0001t0005g0059 a0001c0001t0005g0120 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0259 a0001c0001t0005g0271 a0001c0001t0006g0299 a0001c0001t0009g0277 a0001c0001t0009g0290 a0001c0001t0012g0272 a0001c0001t0015g0074 a0001c0001t0021g0106 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0146 a0001c0002t0005g0276 a0001c0002t0014g0068 a0001c0006t0010g0198 a0002c0003t0001g0179 a0002c0003t0001g0238 a0002c0003t0002g0217 a0002c0003t0003g0220 a0002c0003t0017g0237 a0002c0004t0001g0194 a0002c0004t0002g0192 a0005c0010t0019g0242	44	324	0.1358	-245	c.106 others(19): Show c.1065+1381_1065+1625del		DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
DEAF1_chr11_639233_700222	647806	AGTGCTGG others(238): Show AGTGCTGGGAGCAGGTGGGTGGACTTGACCCAGGCGGTGCTGGGAGCAGG TGGGTGGACTTGACCCAGGCGGTGCTGGGAGCAGGTGGGTGGACTTGACC CAGGCGGTGCTGGGAGCAGGTGGGTGGACTTGACCCAGGCGGTGCTGGGA GCAGGTGGGTGGACTTGACCCAGGCGGTGCTGGGAGCAGGTGGGTGGACT TGACCCAGGCGGTGCTGGGAGCAGGTGGGTGGACTTGACCCAGGCG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0247 a0001c0002t0001g0247	1	345	0.0029	-245	c.159 others(19): Show c.1594-3397_1594-3153del		DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	11/11						chr11	TogoVar
DIP2C_chr10_269201_694668	321863	AGTCGGGG others(238): Show AGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCC GTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCG TCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGT CGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTC GGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCC	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0041 a0001c0004t0001g0041	1	88	0.0114	-245	c.392 others(19): Show c.3924+4898_3924+5142del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	322718	CGAGAGAC others(238): Show CGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGC GAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCG AGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGA GAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAG AGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGT	C C	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0042 a0001c0002t0003g0042	1	88	0.0114	-245	c.392 others(19): Show c.3924+4043_3924+4287del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	322957	CTCCAGTG others(238): Show CTCCAGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGC TCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCT CCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTC CGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCC AGTGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGG	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19074.hp2 HG00597.hp2 NA19074.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0016 a0001c0005t0002g0017 a0001c0005t0002g0016 a0001c0005t0002g0017	2	88	0.0227	-245	c.392 others(19): Show c.3924+3804_3924+4048del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	322961	AGTGAGAG others(238): Show AGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG GCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGG CGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGC GAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTG AGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0082 a0001c0002t0003g0082	1	88	0.0114	-245	c.392 others(19): Show c.3924+3800_3924+4044del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar

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Search Results (Total: 10000 hits)