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
TMEM229B_chr14_67465269_67493721	67479587	ATGCACCT others(387): Show ATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTT GAACCTGGGAGGCGGAGGTTGCCGTGAGCCGAGATAGCGCCACTGCACTC TAGCCTAGGTGACAGAGTGAGACTCCGTCTCAAAAAAGGAAAAAAAAATG CTTGTGGAATGAATATGTATTCACCGTATTCATACCTCGTGTATAGAAGG TGTTCAATGAATTTGCTAAGCAAATGAACCCAAAGAAACCTGAAGTCATG TAAAATTATTGCAGGCTCTTCCCTCCTGTGTCATCCAACAACAAACCATG CCTCACAGGTCTCAATATGGCCAGCTGGTTAAGTTCAGGGACCCCAGATG ATCCTAACTGCCTGGGTTGGAATCCTGGCTGATGCTTTCCACCTG	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	442	0.0023	-394	c.-18 others(17): Show c.-18-6040_-18-5647del	TMEM229B	ENSG00000198133.9	transcript	ENST00000554480.6	protein_coding	2/2			chr14	TogoVar
TUBGCP2_chr10_133273635_133313872	133291347	ATGTCCCT others(387): Show ATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGC CCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCC CTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACC TGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGT GTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACG GGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCC GTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAG GGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp2 HG03471.hp2 others(1): Show HG02451.hp2 HG02922.hp2 HG03471.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0126 a0001c0002t0003g0007 a0001c0002t0003g0071 a0001c0001t0001g0126 a0001c0002t0003g0007 a0001c0002t0003g0071	4	284	0.0141	-394	c.121 others(18): Show c.1214+758_1214+1151del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
UNC5C_chr4_95157504_95553973	95479914	TGTTGAAG others(387): Show TGTTGAAGGACTGAATAGAACAAAAAGGCTGAGTAACAGAAAATTCTGTC TCTTTCCTGGAATGTCTTTGAGCTGGGACATTAGTTCTGCCACTGGATTC TGACATGGACTTAGACTGGAAATTACACCTCGGGCCTGTGTCTTGGAACC TAGACTGGAACTATGCCATCAGCACTTCCAGGTCTTCAACTTGCTTACTG GAAATTTTGGGACTTCTCAGTCTCTATAACTGTCTGAGCCAATTCCTTAT AATAAATAAATAAATGTGTGTATGTATGTACATATATATGTATACACAAG TATACATGTATATATACATTCATAATGTATATAATGCATATATATTTATA ATCATATACATATATGTGTTTGTGTGTGTATATATAGATAGCCTA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03486.hp2 HG02622.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0027 a0001c0004 a0001c0027	a0001c0004t0003 a0001c0027t0001 a0001c0004t0003 a0001c0027t0001	a0001c0004t0003g0014 a0001c0027t0001g0177 a0001c0004t0003g0014 a0001c0027t0001g0177	2	204	0.0098	-394	c.124 others(19): Show c.124+68426_124+68819del	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
ACAP2_chr3_195269745_195448020	195434925	CCTCTTTC others(386): Show CCTCTTTCACTCTTGAATGAAGTAATCTGAGTCACTGCCCTTTTTTCTTG GTCACTCTAACTAAAGATGTGTCCATTTTGTTAGGCTTTTCAAAGAACCA CCTTTTGGTTTCAATTATTTTTCTCAATTGTTCTCTTCTCTATTTTCTCT TATTTCTGCTCTACCTTTTTTAGTTTCTTCCCTTTCGCTGCTTTGAGATT TGCTTACTCTTCTTTTTCTAGTTTGCTGGGGTGAAGATTAGCTACTATTT TGAGATCTCTTTTTTTTTTAGACAGAGTCTCACTCTGTTGTCCAGGCTGA AGTGCAGTGGCGTACTCTTGGCTCACTGCAACCTCTGCCCCCCGGGTTCA AGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03098.hp2 HG03453.hp2 HG01884.hp2 HG03098.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0279 a0001c0001t0002g0280 a0001c0001t0002g0292 a0001c0001t0001g0279 a0001c0001t0002g0280 a0001c0001t0002g0292	3	324	0.0093	-393	c.53+ others(15): Show c.53+7477_53+7869del	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	1/22			chr3	TogoVar
AP3D1_chr19_2095988_2156566	2131488	TGGACAGG others(386): Show TGGACAGGCAGCCACGAGGGGACAGGGCCCATCGGCCACGATCTAGGCAC CCGGTGGACAGGCAGCCACGCGGGGACAGCGCCCATCGGCCACGATCTAG ACACCAGGTGGACAGGCAGCCACGCGGGGACAGCGCCCATCGGCCACGAT CTAGACACCTCCAGGCGGACAGGCAGCCACGCGGGGACTGCGCCCATCGG CCACGATCTAGACACCTCCGGGCGGACAGGCAGCCACGCGGGGACCGCGC CCATCGGCCACGATCTAGACACCTCCGGGCGGACAGGCAGCCACACGGGG ACCGCGCCCATCGGCCACGATCTAGACACCTCCGGGCGGACAGGCAGCCA CGCGGGGACAGCGCCCATCGGCCACGATCTAGACACCTCCGGGC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp1 HG02723.hp2 others(9): Show HG02280.hp2 HG02622.hp1 HG02723.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03516.hp2 HG06807.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 a0001c0001 a0001c0003 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0003t0005 a0001c0011t0005	a0001c0001t0001g0328 a0001c0001t0002g0345 a0001c0003t0002g0208 others(9): Show a0001c0001t0001g0328 a0001c0001t0002g0345 a0001c0003t0002g0208 a0001c0003t0002g0325 a0001c0003t0002g0326 a0001c0003t0002g0327 a0001c0003t0002g0329 a0001c0003t0005g0207 a0001c0003t0005g0211 a0001c0003t0005g0212 a0001c0011t0005g0209 a0001c0011t0005g0210	12	406	0.0296	-393	c.462 others(15): Show c.462+590_463-952del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	5/31			chr19	TogoVar
CDH4_chr20_61247261_61945617	61264397	TCAGTGGC others(386): Show TCAGTGGCTCCTTCATTCAGTCCTACACATACCCCAGTGGCTCCTTCATT CAGTCCTACACATACCCCAGTGGCTCCTTCATTCAGTCCTACACATACCT CAGTGGCTCCTTCATTCGGTCCTACACATACCCCAGTGGCTCCTTCATTC AATCTTATACATACCTCAGTGGTTCCTTCATTCAATCTTACACATACAGT GGCTCCTTCATTCAGTCCTACACATATCTCAGTGGTTCCTTCATTCAATC TTACACATACCTCAGTGGCTCCTTCATTCAATCTTACACATATCTCAGTG GCTCCTTCATTCAGTCCTACACATACCCCAGTGGCTCCTTCATTCAGTCC TACACATACCCCAGTGGCTCCTTCATTCAGTCCTAGACATACCC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18906.hp1 HG02559.hp1 NA18906.hp1	a0001 a0001	a0001c0010 a0001c0012 a0001c0010 a0001c0012	a0001c0010t0009 a0001c0012t0001 a0001c0010t0009 a0001c0012t0001	a0001c0010t0009g0045 a0001c0012t0001g0008 a0001c0010t0009g0045 a0001c0012t0001g0008	2	106	0.0189	-393	c.169 others(17): Show c.169+9535_169+9927del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61264779	CTAGACAT others(386): Show CTAGACATACCCCAGTGGCTCCTTCATTCAGTCCTACACATACCCCAGTG GCTCCTTCATTCAGTCCTACACATACCCCAGTGGCTTCTTCATTCAGTCC TACACATACCCCAGTGGCTCCTTCATTCAGTCCTACACATACCTCAGTGG CTCCTTCATTCAGTCCTACACATACCCCAGTGGCTCCTTCATTCAGTCCT ACACATACCTCAGTGGCTCCTTCATTCAGTCCTACACATACCCCAGTGGC TCCTTCATTCAGTCCTACACATACCCCAGTGGCTCCTTCATTCAATCTTA CACATGTCTCAGTGGCTCCTTCATTCAATCTTACACATACAGTGGCTCCT TCATTCAGTCCTACACATAACTCAGTGGTTCCTTCATTCAATCT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0089 a0001c0001t0031g0089	1	106	0.0094	-393	c.169 others(18): Show c.169+9845_169+10237del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
FOXN3_chr14_89151177_89422233	89362221	TCCAGCAC others(386): Show TCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCACCACCTCCTC CTCCTCCACCACCACCACCTCCACCACCACCACCACCACCTCCAGCACCA CCTCTACCACCACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCTCC ACCACCACCTCCACCACCACCACCTCCAGCACCACCACCACCTCCTCCTC CTCCACCACCACCACCACCACCTCCAGCACCAGCTCCACCACCTCCTCCT CCACCACCACCACCACCACCACCACCATCTCCACCACCACCACCACCATC TCTACGACCACCACCACCACCATCTCCACCACCACCTCCACCACCACCAC CACCACCATCTCTACGACCACCACCACCACCACCATCTCTACGA	T T	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0059 a0001c0001t0005g0059	1	230	0.0044	-393	c.544 others(19): Show c.544-11806_544-11414del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FRYL_chr4_48492357_48785279	48659402	AAGGAGAA others(386): Show AAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAAGAGGAAGAGGAAGAGGAA GAGGGAGAAGAGGAAGAGGGAGAAGAGGAAGAGGGAGAAGAAGAAGAGGG AGAAGAAGAAGAGGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAG AGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGA GAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGG AGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAG AGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGA GAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00733.hp2 others(4): Show HG00140.hp1 HG00323.hp1 HG00733.hp2 HG00735.hp2 HG01516.hp1 HG01517.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0132 others(4): Show a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0246	7	282	0.0248	-393	c.-81 others(19): Show c.-81+24878_-80-24913del	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
FRYL_chr4_48492357_48785279	48659513	AGGGAGAA others(386): Show AGGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGA GAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGA GGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAG AAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGA GAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGA GGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAG AAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGAAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA20129.hp2 NA19043.hp1 NA20129.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0004c0007 a0002c0004 a0004c0007	a0002c0004t0001 a0004c0007t0001 a0002c0004t0001 a0004c0007t0001	a0002c0004t0001g0209 a0004c0007t0001g0003 a0002c0004t0001g0209 a0004c0007t0001g0003	2	282	0.0071	-393	c.-81 others(19): Show c.-81+24767_-80-25024del	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
IMPA1_chr8_81651914_81691325	81684462	CTACACAC others(386): Show CTACACACAGTATCTTTAGATACTACAGTATACTACACATAAGTATCTTT AGATACTATGTGTAGTATATATACTACACATAAGTATCTTTAGATACTAA TGTGTAGTATATATACTACACATAAGTATCTTTAGATATATATATCTAGT ATATATATACTACACATAAGTATATATACTACACATAAGTATATATACTA CACATAAGTATATTTAGATACTATGTGGAGTATAAATACTACACATAAGT ATATTTAGATACTATGTGGAGTATATATACTACACATAAGTATATTTAGA TACTATGTGGAGTATATATACTACACATAAGTATATTTAGATACTATGTG GAGTATATATACTATACATAGTATCTATGTGTAGTATATATACT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02109.hp2 HG02615.hp1 others(3): Show HG01069.hp2 HG02109.hp2 HG02615.hp1 HG02630.hp2 HG02976.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0040 a0001c0001t0011g0241 a0001c0001t0011g0242 others(2): Show a0001c0001t0011g0040 a0001c0001t0011g0241 a0001c0001t0011g0242 a0001c0001t0011g0243 a0001c0001t0011g0245	6	380	0.0158	-393	c.-25 others(17): Show c.-25+1397_-25+1789del	IMPA1	ENSG00000133731.10	transcript	ENST00000256108.10	protein_coding	1/8			chr8	TogoVar
KLKB1_chr4_186222507_186263471	186239316	ATATAGGA others(386): Show ATATAGGACAGTGATATTGTTATAGTTATAGGAAACTAGTACAGTGATAC TGTTAGAGTTATAGGTACAGTGATATAGGACAGTGATATTGTTATAGTTA TAGGAAACTAGTACAGTGATACTGTTAGAGTTATAGGTACAGTGATATTG TTATAGTTATAGGAAACTAGTACAGTGATACTGTTATAGGTACAGTGATA TAGGACAGTGATACTGTTATAGGAAACTAGTACAGTGATACTGTTAGAGT TATAGGTACAGTGACATAGGACAGTGATACTGTTATAGTTATAGGAAACT AGTACAGTGATACTGTTAGAGTTATAGGTACAGTGATATAGGACAGTGAT ACTGTTATAGTTATAGGAAACTAGTACAGTGATACTGTTATAGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00639.hp1 others(50): Show HG00099.hp1 HG00408.hp2 HG00639.hp1 HG00642.hp2 HG01069.hp1 HG01071.hp2 HG01167.hp1 HG01169.hp1 HG01256.hp1 HG01258.hp2 HG01891.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02148.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03195.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18950.hp1 NA18955.hp1 NA18961.hp1 NA18968.hp1 NA18972.hp1 NA18981.hp1 NA18987.hp1 NA19007.hp2 NA19060.hp2 NA19062.hp1 NA19066.hp2 NA19068.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0012 a0001 a0004 a0012	a0001c0006 a0001c0017 a0004c0005 others(1): Show a0001c0006 a0001c0017 a0004c0005 a0012c0018	a0001c0006t0007 a0001c0006t0011 a0001c0017t0001 others(2): Show a0001c0006t0007 a0001c0006t0011 a0001c0017t0001 a0004c0005t0001 a0012c0018t0001	a0001c0006t0007g0215 a0001c0006t0011g0213 a0001c0017t0001g0281 others(28): Show a0001c0006t0007g0215 a0001c0006t0011g0213 a0001c0017t0001g0281 a0004c0005t0001g0004 a0004c0005t0001g0009 a0004c0005t0001g0014 a0004c0005t0001g0020 a0004c0005t0001g0021 a0004c0005t0001g0029 a0004c0005t0001g0030 a0004c0005t0001g0032 a0004c0005t0001g0065 a0004c0005t0001g0066 a0004c0005t0001g0068 a0004c0005t0001g0069 a0004c0005t0001g0070 a0004c0005t0001g0071 a0004c0005t0001g0072 a0004c0005t0001g0073 a0004c0005t0001g0077 a0004c0005t0001g0078 a0004c0005t0001g0079 a0004c0005t0001g0080 a0004c0005t0001g0081 a0004c0005t0001g0082 a0004c0005t0001g0083 a0004c0005t0001g0084 a0004c0005t0001g0085 a0004c0005t0001g0086 a0004c0005t0001g0087 a0012c0018t0001g0067	53	432	0.1227	-393	c.598 others(17): Show c.598+1078_598+1470del	KLKB1	ENSG00000164344.17	transcript	ENST00000264690.11	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
MYOM2_chr8_2040046_2150456	2085544	CCCACTGT others(386): Show CCCACTGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGC CCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTG GCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCG TGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTC TGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGA TCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGTCGT GATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAG TCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0191 a0002c0015t0001g0191	1	403	0.0025	-393	c.164 others(17): Show c.1644+157_1644+549del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085547	ACTGTCAT others(386): Show ACTGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCC ACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCC CCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGG CCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGC GTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCT CTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGAT CTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCG TGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0011 a0011	a0011c0178 a0011c0178	a0011c0178t0001 a0011c0178t0001	a0011c0178t0001g0086 a0011c0178t0001g0086	1	403	0.0025	-393	c.164 others(17): Show c.1644+159_1644+551del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDE7B_chr6_135846701_136200574	135973085	TCTTGCAT others(386): Show TCTTGCATAACTGAAACTTTAAGCCAGTTGATGAGTGATTCCTGATTTTC CCTTCCCCGTACACCATGGAAACCACCGGTATTCTACTATTTGATTCTAT GAATTTGACTAGTTTAGATACCGCATATAAATGGAGTCATACAGTATTTG TCTTTCTGTGACTGGCTTATTTCACTTAGCATAATGTCCTCCAGGTTCTT CCATGTTGTCACAAATTGCAGAATTTCCTTTTGAAGGCAGAATAGTATTC CATTGTATGCGTCTACCATATTTTATTTTTCCATTCATCTGTTGATGGAT CTTAGGTTGTTTCCATATCTTGGCTATTTGAATAGTGCTGCAATGAACAT AGAGGTGCTAATATCTCTTCGAGGTCCTGACTTCTGTTCTTTTA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0013 a0003c0004t0013	a0003c0004t0013g0108 a0003c0004t0013g0108	1	142	0.0070	-393	c.82+ others(17): Show c.82+25562_82+25954del	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	2/12			chr6	TogoVar
PRKCA_chr17_66297613_66815743	66799175	GTGATGGT others(386): Show GTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGT GGTGATGGTGGTGGTAGTGACGGTGGTGGTGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0143 a0001c0001t0088g0143	1	178	0.0056	-393	c.185 others(19): Show c.1855-4695_1855-4303del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
RYR1_chr19_38428691_38592564	38581458	GCCCACCT others(386): Show GCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCA CCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCAC ACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTT GTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTG ACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCT CCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACAC CCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACA ATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03710.hp2 HG03017.hp2 HG03710.hp2	a0010 a0010	a0010c0021 a0010c0021	a0010c0021t0001 a0010c0021t0001	a0010c0021t0001g0177 a0010c0021t0001g0178 a0010c0021t0001g0177 a0010c0021t0001g0178	2	218	0.0092	-393	c.146 others(20): Show c.14646+989_14646+1381del	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	101/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
SRPK2_chr7_105111374_105393921	105349879	CAGGCACA others(386): Show CAGGCACATGCCACCACACCTGGCTAATTTTTGTATTCTTAGTAGAGATG GGGTTTCGCCATGTTGGCCAGGATGATCTCAATCTCCTGAACTTGTGATC CACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGT GCCTGGCCAAACAGTGCCTGTCTTAATACAGCAGGCATTATGCTAAATAT ATCACCTGAATTTTTACTTAATCCTCACAATAACCCTGTAGTTGCTATAA TTTTTTTTTTTTTTTTTTGGAGACAAGAGTCTCTCTCTGTCACCCAGACT GGAGTACAGTGGCTCAATCTCAGCTCACTGCAACCTCCGCCTCCCCTGTT TTAGGTAATTCTCCAGCCTCAGCCACCCGAGTAGCTGGGATTAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03834.hp1 homoSapiens_chm13v2.hp1 HG00738.hp1 HG03834.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0143 a0001c0001t0001g0198 a0001c0001t0009g0154 a0001c0001t0001g0143 a0001c0001t0001g0198 a0001c0001t0009g0154	3	282	0.0106	-393	c.71+ others(17): Show c.71+38376_71+38768del	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
WDR53_chr3_196549177_196573554	196552399	TATAATTA others(386): Show TATAATTAAATATAAATATTAATAATTAATATTATCAATATTATTTAAGT TACATAGCAATCTCATAATATTCACAATATTTTAAATTAAATAATTAAAA TTTATATTTAATGGTAATAAGTAATACAGGTTCCAGTGATTGGAACCTGT TATCTTTGGAGGATGTTTTTCAGCCTTCTACAGGTGGGGGACATTGAAAG CTTGCTTCCGAGGGGTGACCACTGAAGTTCCTATTTGTCACCTTGAGTGG CCATTTGACTATTAGAACTAAGTTATATTCAAAATGATGTCCTGGTTCTC TGTAAACTTAGGCTGGGGTGCTTCTTTTGCTTACCCTGCCAGCGTAGCCG CCTCAGCAGTATGCACCTGACTGTTCTTGGACTTCTCAGCTATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 NA19030.hp1 HG02895.hp2 HG02897.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0059 a0001c0002t0001g0039 a0001c0002t0001g0059	3	386	0.0078	-393	c.14 others(11): Show c.1419_*1811del	WDR53	ENSG00000185798.8	transcript	ENST00000332629.7	protein_coding		1777		chr3	TogoVar
AHRR_chr5_316714_443285	391340	CGGGCGCA others(385): Show CGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCATGGGCGCAGGGCGAGGA GGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCG GGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGG GCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGG CGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGAGGGC GCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGGCG CAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGC AGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0031 a0006c0006t0031	a0006c0006t0031g0226 a0006c0006t0031g0226	1	268	0.0037	-392	c.351 others(19): Show c.351+14657_351+15048del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391427	GCAGGGCG others(385): Show GCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGG CAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGC AGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCA GGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACACAG GGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGG GCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGG CGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGC GAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACA	G G	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0068 a0001c0001t0005g0068	1	268	0.0037	-392	c.351 others(19): Show c.351+14722_351+15113del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391487	CGGGCGCA others(385): Show CGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGA GGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGAG GGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGG GCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGG CGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGC GCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGAGGGCG CAGGGCGAGGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGGCGC AGGGTGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01934.hp1 NA18971.hp2 others(1): Show HG01192.hp1 HG01934.hp1 NA18971.hp2 NA19083.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0022 a0002c0002 a0009c0022	a0002c0002t0001 a0009c0022t0001 a0002c0002t0001 a0009c0022t0001	a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0193 others(1): Show a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0193 a0009c0022t0001g0023	4	268	0.0149	-392	c.351 others(19): Show c.351+14804_351+15195del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGAP39_chr8_144524179_144690846	144687088	CGTGACCA others(385): Show CGTGACCACACACTGGCGGCGACCATTTCCCACCCCCGTGACCACGCACT GGCGGCGAGCATTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTT CCCACCCCCGTGACCACACACTGGCGGCGACCATTTCCCACCCCCGTGAC CACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCG AGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCC TGTGACCACGCACTGGCGGCGAGCATTTCCCACCCCTGTGACCACGCACT GGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCATTTC CCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 NA18948.hp1 HG03195.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0017 a0001c0001t0001 a0001c0007t0017	a0001c0001t0001g0236 a0001c0007t0017g0019 a0001c0001t0001g0236 a0001c0007t0017g0019	2	246	0.0081	-392	c.-18 others(11): Show c.-1876_-1485del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1243		chr8	TogoVar
C19orf12_chr19_29693937_29720261	29719366	TATATATA others(385): Show TATATATAATTATATATATATAATTTATATATATATAAATATATATATAA ATTATATATATATATAATATATATATTTATATATATAATATACATATTTA TATATATATTATATATATTTATATATATATTATATTTATATATATTTATA TATATTATATATATATTATATATATAATATATAAATATATTTATATAATA TAAATATATATATTTATATAATATAAATATATATATTTATATATATATAA AATATATATAATATATAAGTTTGGACAAAGATATAGAATTATATAATATA TAAGTTTGGACAAAGATATAGAATTATATAATATATAATATAATATATCA GTATATATAATTGTACTATTATATAATTATATATAATTATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02486.hp1 others(2): Show HG01891.hp1 HG02055.hp2 HG02486.hp1 HG02559.hp1 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0020 a0001c0002t0015 a0001c0002t0020	a0001c0002t0015g0105 a0001c0002t0015g0106 a0001c0002t0015g0108 others(2): Show a0001c0002t0015g0105 a0001c0002t0015g0106 a0001c0002t0015g0108 a0001c0002t0020g0050 a0001c0002t0020g0051	5	418	0.0120	-392	c.-46 others(11): Show c.-4644_-4253del	C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding		4106		chr19	TogoVar
CSMD1_chr8_2930361_4999914	3795632	CATGTATA others(385): Show CATGTATAGATATAGATATATATCTATCATAGATATAGATATATATCTAT CATGTATAGATATAGATATATATCTATCAAGTACAGCTATAGATATCTAT CATGTACAGCTATAGATACCTATCATGTACAGCTATAGATACCTATCATG TACAGATATAGATATATACCTATCATGTACAGATATAGATATATATCTAT CATGTACAGATATAGATATATATCTATCATGTACAGATATAGATATATAT CTATCATGTACAGATATATATATCATGTACAGATATAGATATCTATCATG TACAGATATAGATATCTATCATGTACAGATATAGATATCTATCATGTACA GATATAGATATATATCTATCATGTATATAGATATATATCATGT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03098.hp1 HG03098.hp2 others(2): Show HG01123.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 NA19030.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0002 a0001c0003 a0001c0019 others(2): Show a0001c0002 a0001c0003 a0001c0019 a0002c0074 a0011c0110	a0001c0002t0028 a0001c0003t0008 a0001c0019t0078 others(2): Show a0001c0002t0028 a0001c0003t0008 a0001c0019t0078 a0002c0074t0041 a0011c0110t0074	a0001c0002t0028g0005 a0001c0003t0008g0053 a0001c0019t0078g0105 others(2): Show a0001c0002t0028g0005 a0001c0003t0008g0053 a0001c0019t0078g0105 a0002c0074t0041g0031 a0011c0110t0074g0082	5	126	0.0397	-392	c.819 others(19): Show c.819-41982_819-41591del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CTDP1_chr18_79674803_79759503	79745371	GCCCGCGT others(385): Show GCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCG TTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCG TGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCC CTCCCGTGCGGGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCC GCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCT GTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCG CGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCC CGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTC	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00609.hp2 others(50): Show HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG01243.hp1 HG01261.hp2 HG01496.hp2 HG01884.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02132.hp2 HG02293.hp2 HG02523.hp2 HG02630.hp1 HG02735.hp1 HG02738.hp1 HG02976.hp2 HG03209.hp2 HG03492.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp2 NA18747.hp1 NA18947.hp1 NA18949.hp1 NA18954.hp2 NA18960.hp2 NA18963.hp1 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18987.hp2 NA18989.hp1 NA18993.hp1 NA19010.hp1 NA19012.hp2 NA19056.hp1 NA19058.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp2 NA19080.hp1 NA19084.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0017	a0001c0001 a0001c0003 a0001c0029 others(6): Show a0001c0001 a0001c0003 a0001c0029 a0002c0002 a0002c0006 a0003c0005 a0003c0009 a0003c0012 a0017c0040	a0001c0001t0002 a0001c0003t0001 a0001c0029t0001 others(6): Show a0001c0001t0002 a0001c0003t0001 a0001c0029t0001 a0002c0002t0001 a0002c0006t0001 a0003c0005t0002 a0003c0009t0002 a0003c0012t0002 a0017c0040t0001	a0001c0001t0002g0135 a0001c0001t0002g0151 a0001c0001t0002g0157 others(50): Show a0001c0001t0002g0135 a0001c0001t0002g0151 a0001c0001t0002g0157 a0001c0001t0002g0192 a0001c0003t0001g0030 a0001c0003t0001g0039 a0001c0003t0001g0045 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0056 a0001c0003t0001g0063 a0001c0003t0001g0340 a0001c0029t0001g0029 a0002c0002t0001g0283 a0002c0006t0001g0220 a0002c0006t0001g0222 a0002c0006t0001g0223 a0002c0006t0001g0229 a0002c0006t0001g0230 a0002c0006t0001g0231 a0003c0005t0002g0005 a0003c0005t0002g0006 a0003c0005t0002g0007 a0003c0005t0002g0008 a0003c0005t0002g0099 a0003c0005t0002g0102 a0003c0005t0002g0104 a0003c0005t0002g0110 a0003c0005t0002g0111 a0003c0005t0002g0112 a0003c0005t0002g0113 a0003c0005t0002g0114 a0003c0005t0002g0118 a0003c0005t0002g0119 a0003c0005t0002g0120 a0003c0005t0002g0121 a0003c0005t0002g0125 a0003c0005t0002g0126 a0003c0005t0002g0133 a0003c0005t0002g0134 a0003c0009t0002g0108 a0003c0009t0002g0109 a0003c0009t0002g0115 a0003c0009t0002g0116 a0003c0009t0002g0117 a0003c0009t0002g0124 a0003c0012t0002g0105 a0003c0012t0002g0106 a0003c0012t0002g0107 a0017c0040t0001g0256	53	378	0.1402	-392	c.274 others(19): Show c.2748-8177_2748-7786del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745539	CCCCGCGT others(385): Show CCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCG TTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCG TGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCC CTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCC GCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCT GTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCG CGTTCTGTCCCCGCGTCCCTCCCGTGCGGGTTCTGTCCCCGCGTCCCTCC CGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02109.hp2 HG02280.hp1 others(1): Show HG01361.hp1 HG02109.hp2 HG02280.hp1 HG03130.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0001c0013 a0005c0011 a0001c0003 a0001c0013 a0005c0011	a0001c0003t0001 a0001c0013t0001 a0005c0011t0005 a0001c0003t0001 a0001c0013t0001 a0005c0011t0005	a0001c0003t0001g0073 a0001c0013t0001g0091 a0005c0011t0005g0367 others(1): Show a0001c0003t0001g0073 a0001c0013t0001g0091 a0005c0011t0005g0367 a0005c0011t0005g0368	4	378	0.0106	-392	c.274 others(19): Show c.2748-8085_2748-7694del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745567	CCCCGCGT others(385): Show CCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCG TTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCG TGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCC CTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCC GCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCT GTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCG GGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCC CGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0092 a0001c0013t0001g0092	1	378	0.0027	-392	c.274 others(19): Show c.2748-7945_2748-7554del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DFFB_chr1_3852476_3890429	3873552	TCACCGCA others(385): Show TCACCGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTACTTTAGCTT CCCCAGTAGCTGGGATTACAGGCACGTGGCACCACGTCCAGCTAATTTTG TATTTTTAGTAGAGACGGGATTTCTCCATGTTGGTCAGGCTGGTCTTGAA CTCCTGACCTCAGGTGATCCGCCCGCCTCAGTCTCCCAAAGTTCTGGGGT TACAGGTGTGAGCCACTGCATCCGGCCAGATGTGGGATTTTTTTAAGGAT GCTCAGCTAGTCAGTATAATGTAAATATTCCAAAATCCTAAAAAAATCCC AAATCCAAAACACTTCTGGTCCCCAGCATTTCAGATGGGGACATTCAACC TGTATTGCTTTCGGAGTGAGATTTTTTTTTAAAGTATGTAAAA	T T	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0119 a0001c0013t0002g0119	1	404	0.0025	-392	c.782 others(16): Show c.782+984_782+1375del	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIP2C_chr10_269201_694668	321994	CGCTGTTA others(385): Show CGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGC GCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCG CTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGC TGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCT GTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTG TTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGT TAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTT AGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0007 a0001c0009t0001g0007	1	88	0.0114	-392	c.392 others(19): Show c.3924+4620_3924+5011del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322878	CTGTTAGA others(385): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGT TGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTGAGAGACCGGCGCT GTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTG TTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGT TAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTT AGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTGAGAGACCAGTGTTGTTA GAACAGTCAGTCGGGGGTGCGGGGGTCCGGCGAGAGACCGGCGTTGTTAG AACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0009 a0001c0005t0001g0009	1	88	0.0114	-392	c.392 others(19): Show c.3924+3736_3924+4127del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322912	GGCGAGAG others(385): Show GGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCA GTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGG CGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGC GAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCG AGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTGA GAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGGCGAG AGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGA GACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03225.hp2 HG03579.hp1 HG03130.hp2 HG03225.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0015 a0001c0002 a0001c0010 a0001c0015	a0001c0002t0001 a0001c0010t0002 a0001c0015t0002 a0001c0002t0001 a0001c0010t0002 a0001c0015t0002	a0001c0002t0001g0061 a0001c0010t0002g0001 a0001c0015t0002g0083 a0001c0002t0001g0061 a0001c0010t0002g0001 a0001c0015t0002g0083	3	88	0.0341	-392	c.392 others(19): Show c.3924+3702_3924+4093del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1470746	TCCTTCCC others(385): Show TCCTTCCCCGACTCCTCCAGCCTTTCCCGACTCCCCCAGCCTTTCCCGAC CCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGGCTT TCCCGACCCCTCCAGCCTTTCCCGACCCCTCCATCCTTTCCCGACCCCTC CAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCG ACCCCTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGCC TTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCC TCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCC CGACCCCTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG03516.hp2 HG01891.hp2 HG02258.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0001c0003t0014 a0002c0001t0005 a0001c0003t0001 a0001c0003t0014 a0002c0001t0005	a0001c0003t0001g0026 a0001c0003t0014g0020 a0002c0001t0005g0028 a0001c0003t0001g0026 a0001c0003t0014g0020 a0002c0001t0005g0028	3	40	0.0750	-392	c.107 others(19): Show c.107-30616_107-30225del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
HDAC4_chr2_239043168_239406020	239069307	GGAGTCAC others(385): Show GGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTGGGTGAGAGG GAGTCACGGTGCAAGCCAGCAAGCCCCACGACACTTGCTTAGTGAGAGTG AGTCACGGTGCAAGCCAGCAAGCCCCACGACACTTGCTTAGTGAGAGTGA GTCACGGTGCAAGCCAGCAAGCCCCACGACACTTGCTTGGTGAGAGGGAG TCACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGTGAGT CACAGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGTGAGTC ACAGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGTGAGTCA CGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGT	G G	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0050 a0001c0012t0050	a0001c0012t0050g0154 a0001c0012t0050g0154	1	242	0.0041	-392	c.275 others(18): Show c.2751-1092_2751-701del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26			chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406174	TCTTCCTC others(385): Show TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTT TGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTG TGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCT TCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACACCTAGG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0162 a0001c0001t0023g0162	1	276	0.0036	-392	c.26 others(9): Show c.268_*659del	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	268		chr2	TogoVar
LSG1_chr3_194635791_194677191	194663356	CCCTTTCC others(385): Show CCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCA GAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCC GCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCT TCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCT TTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGA AAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCT CAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTT CCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0009 others(6): Show a0001 a0002 a0009 a0010 a0011 a0012 a0013 a0014 a0015	a0001c0001 a0001c0003 a0001c0005 others(12): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0011 a0001c0013 a0001c0017 a0002c0002 a0009c0016 a0010c0022 a0011c0021 a0012c0014 a0013c0023 a0014c0015 a0015c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(83): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0032 a0001c0001t0035 a0001c0001t0038 a0001c0001t0046 a0001c0001t0053 a0001c0001t0057 a0001c0001t0060 a0001c0001t0064 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0078 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0003t0009 a0001c0003t0013 a0001c0003t0015 a0001c0003t0016 a0001c0003t0022 a0001c0003t0027 a0001c0003t0036 a0001c0003t0039 a0001c0003t0042 a0001c0003t0047 a0001c0003t0048 a0001c0003t0049 a0001c0003t0054 a0001c0003t0055 a0001c0003t0059 a0001c0003t0065 a0001c0003t0071 a0001c0003t0090 a0001c0005t0002 a0001c0007t0033 a0001c0011t0023 a0001c0013t0073 a0001c0017t0037 a0002c0002t0006 a0002c0002t0013 a0002c0002t0026 a0002c0002t0030 a0002c0002t0042 a0002c0002t0044 a0002c0002t0051 a0002c0002t0052 a0002c0002t0081 a0002c0002t0082 a0002c0002t0083 a0002c0002t0084 a0009c0016t0003 a0010c0022t0002 a0011c0021t0002 a0012c0014t0004 a0013c0023t0005 a0014c0015t0003 a0015c0024t0001	a0001c0001t0001g0076 a0001c0001t0001g0103 a0001c0001t0001g0104 others(255): Show a0001c0001t0001g0076 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0195 a0001c0001t0001g0220 a0001c0001t0001g0251 a0001c0001t0002g0084 a0001c0001t0002g0218 a0001c0001t0002g0314 a0001c0001t0003g0080 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0137 a0001c0001t0003g0213 a0001c0001t0003g0246 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0256 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0263 a0001c0001t0003g0267 a0001c0001t0003g0271 a0001c0001t0003g0276 a0001c0001t0003g0278 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0297 a0001c0001t0003g0299 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0004g0088 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0006g0081 a0001c0001t0006g0110 a0001c0001t0006g0126 a0001c0001t0006g0245 a0001c0001t0006g0250 a0001c0001t0006g0264 a0001c0001t0006g0279 a0001c0001t0006g0280 a0001c0001t0006g0282 a0001c0001t0006g0289 a0001c0001t0006g0298 a0001c0001t0007g0073 a0001c0001t0007g0074 a0001c0001t0007g0075 a0001c0001t0007g0099 a0001c0001t0007g0101 a0001c0001t0007g0102 a0001c0001t0007g0113 a0001c0001t0007g0120 a0001c0001t0007g0121 a0001c0001t0009g0004 a0001c0001t0009g0077 a0001c0001t0009g0139 a0001c0001t0009g0140 a0001c0001t0011g0247 a0001c0001t0011g0260 a0001c0001t0011g0265 a0001c0001t0011g0266 a0001c0001t0011g0268 a0001c0001t0011g0269 a0001c0001t0011g0270 a0001c0001t0011g0273 a0001c0001t0011g0300 a0001c0001t0012g0129 a0001c0001t0013g0275 a0001c0001t0013g0305 a0001c0001t0014g0070 a0001c0001t0014g0079 a0001c0001t0014g0313 a0001c0001t0016g0117 a0001c0001t0016g0138 a0001c0001t0017g0071 a0001c0001t0017g0082 a0001c0001t0017g0085 a0001c0001t0017g0086 a0001c0001t0017g0087 a0001c0001t0017g0089 a0001c0001t0018g0277 a0001c0001t0019g0007 a0001c0001t0019g0132 a0001c0001t0019g0133 a0001c0001t0019g0296 a0001c0001t0019g0306 a0001c0001t0021g0068 a0001c0001t0021g0069 a0001c0001t0021g0072 a0001c0001t0021g0312 a0001c0001t0023g0100 a0001c0001t0024g0093 a0001c0001t0028g0244 a0001c0001t0028g0248 a0001c0001t0028g0249 a0001c0001t0028g0284 a0001c0001t0032g0005 a0001c0001t0032g0108 a0001c0001t0035g0115 a0001c0001t0038g0257 a0001c0001t0038g0283 a0001c0001t0046g0008 a0001c0001t0053g0131 a0001c0001t0057g0261 a0001c0001t0060g0255 a0001c0001t0064g0127 a0001c0001t0067g0109 a0001c0001t0068g0285 a0001c0001t0070g0308 a0001c0001t0074g0219 a0001c0001t0075g0272 a0001c0001t0076g0124 a0001c0001t0078g0078 a0001c0001t0086g0274 a0001c0001t0087g0304 a0001c0001t0088g0262 a0001c0001t0089g0307 a0001c0003t0001g0168 a0001c0003t0002g0145 a0001c0003t0002g0146 a0001c0003t0002g0149 a0001c0003t0002g0153 a0001c0003t0002g0158 a0001c0003t0002g0160 a0001c0003t0002g0161 a0001c0003t0002g0162 a0001c0003t0002g0174 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0183 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0191 a0001c0003t0002g0200 a0001c0003t0002g0201 a0001c0003t0002g0203 a0001c0003t0002g0206 a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0003t0002g0309 a0001c0003t0002g0310 a0001c0003t0002g0311 a0001c0003t0003g0163 a0001c0003t0005g0144 a0001c0003t0005g0150 a0001c0003t0005g0151 a0001c0003t0005g0152 a0001c0003t0005g0165 a0001c0003t0005g0166 a0001c0003t0005g0170 a0001c0003t0005g0173 a0001c0003t0005g0194 a0001c0003t0005g0197 a0001c0003t0005g0199 a0001c0003t0005g0208 a0001c0003t0005g0238 a0001c0003t0007g0317 a0001c0003t0008g0155 a0001c0003t0008g0167 a0001c0003t0008g0185 a0001c0003t0008g0186 a0001c0003t0008g0192 a0001c0003t0008g0196 a0001c0003t0008g0209 a0001c0003t0008g0211 a0001c0003t0008g0237 a0001c0003t0008g0239 a0001c0003t0008g0240 a0001c0003t0008g0242 a0001c0003t0008g0243 a0001c0003t0009g0210 a0001c0003t0013g0159 a0001c0003t0015g0147 a0001c0003t0015g0164 a0001c0003t0015g0204 a0001c0003t0015g0205 a0001c0003t0015g0214 a0001c0003t0016g0154 a0001c0003t0016g0156 a0001c0003t0022g0169 a0001c0003t0022g0176 a0001c0003t0022g0202 a0001c0003t0022g0215 a0001c0003t0027g0207 a0001c0003t0027g0222 a0001c0003t0027g0223 a0001c0003t0036g0172 a0001c0003t0036g0177 a0001c0003t0039g0178 a0001c0003t0039g0198 a0001c0003t0042g0212 a0001c0003t0047g0019 a0001c0003t0048g0143 a0001c0003t0049g0315 a0001c0003t0054g0182 a0001c0003t0055g0175 a0001c0003t0059g0241 a0001c0003t0065g0157 a0001c0003t0071g0148 a0001c0003t0090g0184 a0001c0005t0002g0001 a0001c0005t0002g0187 a0001c0005t0002g0188 a0001c0005t0002g0193 a0001c0007t0033g0345 a0001c0007t0033g0346 a0001c0007t0033g0347 a0001c0011t0023g0006 a0001c0013t0073g0142 a0001c0017t0037g0292 a0002c0002t0006g0233 a0002c0002t0013g0230 a0002c0002t0013g0231 a0002c0002t0026g0232 a0002c0002t0030g0234 a0002c0002t0042g0236 a0002c0002t0044g0224 a0002c0002t0044g0225 a0002c0002t0051g0141 a0002c0002t0052g0235 a0002c0002t0081g0228 a0002c0002t0082g0227 a0002c0002t0083g0229 a0002c0002t0084g0226 a0009c0016t0003g0291 a0010c0022t0002g0221 a0011c0021t0002g0171 a0012c0014t0004g0083 a0013c0023t0005g0181 a0014c0015t0003g0281 a0015c0024t0001g0389	265	408	0.6495	-392	c.521 others(17): Show c.521+1809_521+2200del	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	5/13			chr3	TogoVar
LSG1_chr3_194635791_194677191	194663399	CGCCTCAG others(385): Show CGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCC TTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCC TTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAG AAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCC TCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCT TCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTC CCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAG CCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03098.hp2 HG02809.hp1 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0023 a0002c0002t0001 a0002c0002t0023	a0002c0002t0001g0358 a0002c0002t0023g0350 a0002c0002t0001g0358 a0002c0002t0023g0350	2	408	0.0049	-392	c.521 others(17): Show c.521+1766_521+2157del	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	5/13			chr3	TogoVar
LYRM4_chr6_5103419_5265950	5135029	GCTCCCGG others(385): Show GCTCCCGGGGCTGTGGAGGGTGCGGATCGCTCCCGGGACTGTGGAGGGTG CGGTTCACTCCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGACTGTGG AGGGTGCGGATCGCTCCCGGGGCTGTGGAGGGTGCGGTTCTCTCCCGGGG CTGTGGAGGGTGCGGTTCACTCCCGGGGCTGTGGAGGGTGCGGTTCACTC CCGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGACTGTGGAGGGTGCGGA TCGCTCCTGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGACTGTGGAGGG TGCGGATCGCTCCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGGCTGT GGAGGGTGCGGTTCTCTCCCGGGGCTGTGGAGGGTGCGGTTCA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	286	0.0035	-392	c.208 others(19): Show c.208-25930_208-25539del	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
MAD1L1_chr7_1810795_2237945	1991285	ACCGCTGG others(385): Show ACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTC ACGAGCACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCT GGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCC ACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAG AGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCC CACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCAC CTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCT GAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01255.hp1 HG02258.hp2 others(6): Show HG01167.hp2 HG01255.hp1 HG02258.hp2 HG02559.hp2 HG02965.hp2 HG03041.hp2 HG03486.hp1 HG03579.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 others(6): Show a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0150 a0001c0001t0002g0166 a0001c0003t0001g0065 a0001c0003t0001g0066	9	264	0.0341	-392	c.141 others(21): Show c.1416+10388_1417-10745del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MTM1_chrX_150563621_150678143	150583543	TTATACAT others(385): Show TTATACATAATTTATATATAATATATAATTTATATATAATATATATAATT TATATATAATATATAATTTATATATATTATATATAATTTATATATAATAT ATAATTTATATATATTATATATAATTTATATATAAATAATTTGTATATAT TATTTATAAATATATAAATTATATATATTATATAAATTATATATTATATA TAAATTAATATATATTAAATTAATATATATTTAATATATAAAATATATAT AAAATATATATTAAATATATATATTAAATATACAAAATATATATAAATAT ATATCAAATATATAAAATATATATTAAATATATATTAAATATATATATAT ATTTGATATATATATATATAATATAAAATATATATTAAATTAA	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	277	0.0036	-392	c.-10 others(17): Show c.-10-9061_-10-8670del	MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	1/14			chrX	TogoVar
PLCXD1_chrX_276381_308356	296965	ACATTATT others(385): Show ACATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGA CATTATCCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGAC ATTATTCTGTCTCCCACATGGGGATCAGGACGTGGACATCTTTGGGGACA TTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCAT TATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATT ATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTA TTCTGTCTATCACATGGGGATCAGGACGTGGACATCTTTGGGGACATTAT CCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0061 a0001c0001t0086g0061	1	176	0.0057	-392	c.734 others(17): Show c.734-2118_734-1727del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297359	ATTATTCT others(385): Show ATTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCCA TTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACAT TATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCTGTT ATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTA TTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCTGTTAT TCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATT CTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTC TGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCTG	A A	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	176	0.0057	-392	c.734 others(17): Show c.734-1726_734-1335del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLE_chr12_132618762_132692342	132684661	ACACAGGC others(385): Show ACACAGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATCAC ACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTACCATTGA CTGGTTACTGTATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCAC AGAGCTACCATTGACTGGTTACTATATCACACCGTCCCAGTACTCCACAC AGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTATATCACACCG TCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTACCATTGACTGG TTACTGTATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAG AGCTACCATTGACTGGTTACTGTATCACACAATCCCAGTACTC	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA21309.hp2 HG03471.hp1 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0178 a0001c0005t0003g0179 a0001c0005t0003g0178 a0001c0005t0003g0179	2	292	0.0069	-392	c.62+ others(15): Show c.62+2201_62+2592del	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	1/48			chr12	TogoVar
PUS7_chr7_105451503_105527271	105513838	AAAAAAAA others(385): Show AAAAAAAAAAAAAAAATAGTTATTATGGATGATTTACATAGCTGAACTGT ATTGTTGTTATGTCTGGAGGAGTTTAAAAAAAGAAAAAAAGCTGGCTGGG CGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGT GGATCGCCAAGGCAGGCCGGATCACGAAGTCAGGAGATCGAAACCAACCT GGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC GGGTGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCGGTGAGCCGAGATTGT GCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02257.hp2 others(4): Show HG01243.hp1 HG01891.hp1 HG02257.hp2 HG02258.hp2 HG02717.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(4): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0003g0060 a0001c0001t0003g0066	7	350	0.0200	-392	c.-32 others(17): Show c.-32-5686_-32-5295del	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PXMP2_chr12_132682587_132709985	132684661	ACACAGGC others(385): Show ACACAGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATCAC ACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTACCATTGA CTGGTTACTGTATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCAC AGAGCTACCATTGACTGGTTACTATATCACACCGTCCCAGTACTCCACAC AGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTATATCACACCG TCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTACCATTGACTGG TTACTGTATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAG AGCTACCATTGACTGGTTACTGTATCACACAATCCCAGTACTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 NA21309.hp2 HG03471.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0049 a0001c0002t0002g0050	2	350	0.0057	-392	c.-30 others(11): Show c.-3009_-2618del	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding		2925		chr12	TogoVar
SULT4A1_chr22_43819509_43867513	43834488	AGCTTCCC others(385): Show AGCTTCCCACGCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCT GCCCTGAGCTTCCCGCAGCCACACCGCGGCCCTGAGCTTCCCGCGCCCCC ACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCCGC GCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCGGCCCTGAGCT TCCCGCGCCCCCACCGCTGCCCTGAGCTTCCCGCACCCACACCGCGTCCC TGTGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCG CGGCCCTGAGCTTCCCGCGCCCCCACCGCTGCCCTGAGCTTCCCGCAGCC ACACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCGTCCCTGT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00741.hp2 others(44): Show HG00438.hp2 HG00597.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01261.hp1 HG01361.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG02015.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp2 HG02523.hp1 HG02818.hp1 HG02886.hp2 HG03490.hp2 HG03834.hp2 NA18612.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18957.hp1 NA18962.hp1 NA18964.hp2 NA18970.hp2 NA18980.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18994.hp2 NA19003.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp2 NA19083.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0029 a0001c0001t0002 a0001c0001t0029	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0009 others(28): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0254 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0029g0268	47	386	0.1218	-392	c.509 others(16): Show c.509-1146_509-755del	SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	4/6			chr22	TogoVar
SULT4A1_chr22_43819509_43867513	43834516	AGCTTCCC others(385): Show AGCTTCCCGCGCCCCCACCGCTGCCCTGAGCTTCCCGCAGCCACACCGCG GCCCTGAGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCC ACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGGCCCTGAGCTTCCCGC GCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCTGCCCTGAGCT TCCCGCACCCACACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGTCCC TGTGCTTCCCGCGCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCG CTGCCCTGAGCTTCCCGCAGCCACACCGCGGCCCTGAGCTTCCCGCGCCC CCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGTCCCTGT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(42): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00621.hp1 HG00738.hp1 HG01070.hp2 HG01256.hp1 HG01258.hp2 HG02004.hp1 HG02135.hp1 HG02165.hp2 HG02273.hp2 HG02602.hp1 HG02698.hp1 HG02735.hp1 HG03239.hp1 HG03239.hp2 HG03492.hp2 HG04115.hp1 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18949.hp2 NA18950.hp2 NA18954.hp1 NA18956.hp1 NA18960.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18987.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp2 NA19058.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19074.hp1 NA19081.hp1 NA19087.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0028 a0001c0001t0002 a0001c0001t0028	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0009 others(30): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0266 a0001c0001t0028g0217	45	386	0.1166	-392	c.509 others(16): Show c.509-1174_509-783del	SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	4/6			chr22	TogoVar
TPGS1_chr19_502497_524654	523183	AGCATTTC others(385): Show AGCATTTCCGGTGAGCACGGGCCGGGGGCTCAGCATTTCCGGTGAGCACG GGCCGAGGGCTCAGCAGCAATTCCGGTGAGCACGGGCCGGGGGCTCAGCA TTTCAGTGAGCACGGGCCGGGGGCTCGGCATTTCCAGTGAGCACGGGCCG GGTGCTCCGCAGCATTTCCGGTGAGCACGGGCCGGGGGCTCAGCAGCATT TCCGGTGAGCACGGGCCGGGGGCTCAGCATTTCCGGTGAGCACGGGCCGG GGGCTCAGCAGCATTTCCGGTGAGCACGGGCCGGGGGCTCAGCAGCATTT CCGGTGAGCACGGGCCGGGGGCTCAGCATTTCCAGTGAGCACGGGCCGGG GGCTCCGCAGCATTTCCGGTGAGCACGGGCCGGGGGCTCAGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00609.hp2 others(31): Show HG00140.hp2 HG00423.hp2 HG00609.hp2 HG01361.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02074.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02602.hp2 HG03669.hp1 HG03927.hp1 HG04199.hp1 HG04228.hp1 NA18944.hp1 NA18945.hp1 NA18954.hp1 NA18959.hp2 NA18973.hp2 NA18979.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19066.hp2 NA19074.hp1 NA19079.hp2 NA19090.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0081 a0001c0001t0001g0120 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0166 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0003g0094 a0001c0001t0007g0187 a0001c0001t0012g0186 a0001c0001t0014g0183	34	344	0.0988	-392	c.37 others(11): Show c.3761_*4152del	TPGS1	ENSG00000141933.9	transcript	ENST00000359315.6	protein_coding		3530		chr19	TogoVar
TPO_chr2_1408463_1548673	1528849	CTCAAATC others(385): Show CTCAAATCCCCCACTGTGTGCAACCTCCCCAAATCCTCTCCACTGTGTGC AACCTCCTCACGTCCCCCACTGTGTGCAACCCCCACAAATCCTCCCAGTG TGCGCATCCTCCTAAAATCCCCCCACTGTGAGTAACCTCCTAAAATCCCC CCACTGTGAGTAACCTCCTCAAATCCCAACTCTGTGCAACCTCCCCAAAT CTCCCCAGTGTGTGCAACTTCCCTAAATCCCCCCAACTGTGTTTAACCTC TCCAAATCCCCCCACTGTGTGCAACCTCCCCGAATCCCCCCACTGTGTGC AACCTCCCTGAATCCCCCCACTGTGTGCAGCCTCTCCAAATCCCCCCCAC TCTGTGCAACCTCCTCAAATCCCCCCCACTGTGTGCAACCGTG	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18962.hp1 HG02040.hp1 NA18962.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0013 a0002c0002 a0006c0013	a0002c0002t0009 a0006c0013t0012 a0002c0002t0009 a0006c0013t0012	a0002c0002t0009g0062 a0006c0013t0012g0067 a0002c0002t0009g0062 a0006c0013t0012g0067	2	130	0.0154	-392	c.261 others(21): Show c.2619-11744_2619-11353del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
VCX3B_chrX_8459830_8471510	8466565	AGGTGGTG others(385): Show AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAG GGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAG GGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0002 a0004c0004t0004g0002	1	271	0.0037	-392	c.18 others(9): Show c.183_*574del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		56		chrX	TogoVar

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Search Results (Total: 10000 hits)