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
OR4F17_chr19_102104_118156	107744	TTATATAT others(450): Show TTATATATATATATATTATATATACTATATATTTATATATATTACATATT ATATATATATAATATATATTATATAATATATAATATAAATATAATATAAA TTATATAAATATAATATATATTTTATTATATAATATAATATATATTATAT AATATAATATAATATAAATTATATAAATATAATATATATATTATTATATA ATATAATATATATTTTATTATATAATATATATTATATATTATAGAATATA ATATATATTTTATTATATAATATATATTATATATTATAGAATATAATATA TATTTTATTATAAAATATATATTATAGAATATAATATATATTTTATTATA TAATATATATTATAGAATATAATATATATTATATTTATATATAACATATA TTATTATATAAAATATGTATAATATATATTATATAAATATATTTATATAT TATATAAA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03579.hp2 HG02717.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0026 a0001c0001t0008g0026 a0001c0001t0001g0026 a0001c0001t0008g0026	2	227	0.0088	-457	c.-55 others(15): Show c.-55+199_-55+655del		OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr19	TogoVar
PCGF3_chr4_700832_775089	746750	CGGGGGTC others(450): Show CGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGT GTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCG	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0011 a0001c0001t0022g0011	1	366	0.0027	-457	c.462 others(17): Show c.462+2067_462+2523del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PSMF1_chr20_1113602_1177246	1114600	CGGAGCTG others(450): Show CGGAGCTGTCTGCCCTGTAAGATGCCAGCTACAACCAACTGTATGCAAAC CAGTGTTGAACCAAGGGGTGGGGGTGACGGAGCTGTCTGCCCTGTAAGAT GCCAGCTACAACCAACTGTATGCAAACCAGTGTCAAGGGGTGGGGGTGAC GGACCTGTCTGCCCTGTAAGATGCCAGCTACAACCAACTGTATGCAAAGC AGTGTTGAACCAAGGGGTGGGGGTGACGGAGCTGTCTGCCCTGTAAGATG CCAGCTACAACCAACTGTATGCAAACCAGTGTTGAACCAAGGGGTGGGGG TGACGGAGCTGTCTGCCCTGTAAGATGCCAGCTACAACCAACTGTATGCA AACCAGTGTTGAACCAAGGGGTGGGGGTGACGGAGCTGTCTGCCCTGTAA GATGCCAGCTACAACCAACTGTATGCAAACCAGTGTTGAACCAAGGGGTG GGGGTGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00597.hp2 others(39): Show HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp2 HG00733.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01943.hp1 HG02071.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG06807.hp1 NA18939.hp2 NA18944.hp1 NA18946.hp2 NA18953.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18970.hp2 NA18981.hp1 NA18987.hp1 NA18989.hp2 NA18994.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19009.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19078.hp1 NA19079.hp2 NA19090.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0019 a0001c0001t0048 a0002c0002t0002 a0002c0002t0040 a0002c0002t0049	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 others(36): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0127 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0045 a0001c0001t0004g0063 a0001c0001t0004g0078 a0001c0001t0004g0084 a0001c0001t0004g0101 a0001c0001t0018g0075 a0001c0001t0018g0079 a0001c0001t0018g0083 a0001c0001t0019g0071 a0001c0001t0019g0073 a0001c0001t0019g0086 a0001c0001t0048g0100 a0002c0002t0002g0023 a0002c0002t0040g0267 a0002c0002t0049g0024	42	326	0.1288	-457	c.-41 others(11): Show c.-4173_-3717del		PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding					4001		chr20	TogoVar
RUFY1_chr5_179545554_179615012	179594071	GAGCGGGC others(450): Show GAGCGGGCAGATCACGAGGTCAGGAGTTTGAGACTAGCCTGGCCAGCATG GTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGAGGT GCACGCCTCTAATCCCAGATACTCAGAAGGCTGAGGCAGGAGAATTGCTT GAACCCGGGAGACAGGTTGCAGTGAGCCGAAATCATTCCGTTGCACTCCA GCCTGGGCAACAGAGCGCAACTCCAACTCGGGGGAAAAAAAAAAAAAGTC ATTTAGTATTGTCTTTTCAAACTTTGCCGCTAAGTTAATCTTTCTGAGTC TTCCGGGCCACATAGGTAGCTGGTTGCCTCTCCTGTGTCATTTCAGGGTG GTCCAAGGGAACTGTCCCAGACAGAACCAATCATGCCAGATTTTGAAAAA CAGCATCTAGTCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTCTG GGAGGCCA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	376	0.0027	-457	c.141 others(17): Show c.1413+429_1414-336del		RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
ZNF516_chr18_76352682_76500242	76393528	TCAGGTGG others(450): Show TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGG TGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAAGG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03209.hp2 HG02630.hp2 HG03209.hp2	a0001 a0006 a0001 a0006	a0001c0005 a0006c0041 a0001c0005 a0006c0041	a0001c0005t0190 a0006c0041t0183 a0001c0005t0190 a0006c0041t0183	a0001c0005t0190g0122 a0006c0041t0183g0127 a0001c0005t0190g0122 a0006c0041t0183g0127	2	346	0.0058	-457	c.181 others(21): Show c.1811-13682_1811-13226del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ACAN_chr15_88798436_88880353	88855652	ACTGCCCC others(449): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACA TCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTA GAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCC TGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG CTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTA GAGACCG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02145.hp2 HG02559.hp1 HG02976.hp2 others(1): Show HG02145.hp2 HG02559.hp1 HG02976.hp2 HG03225.hp2	a0025 a0089 a0025 a0089	a0025c0053 a0025c0107 a0089c0179 a0025c0053 a0025c0107 a0089c0179	a0025c0053t0002 a0025c0107t0015 a0089c0179t0011 a0025c0053t0002 a0025c0107t0015 a0089c0179t0011	a0025c0053t0002g0006 a0025c0053t0002g0164 a0025c0107t0015g0277 others(1): Show a0025c0053t0002g0006 a0025c0053t0002g0164 a0025c0107t0015g0277 a0089c0179t0011g0162	4	368	0.0109	-456	c.312 others(9): Show c.3124_3579del	p.Thr others(15): Show p.Thr1042_Thr1193del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3505/8960	3124/7707	1042/2568		INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855709	ACTGCCCC others(449): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACA TCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTA GAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCC TGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG CTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTA GAGACCG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01361.hp2 HG01361.hp2	a0081 a0081	a0081c0118 a0081c0118	a0081c0118t0001 a0081c0118t0001	a0081c0118t0001g0274 a0081c0118t0001g0274	1	368	0.0027	-456	c.318 others(9): Show c.3181_3636del	p.Thr others(15): Show p.Thr1061_Thr1212del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3562/8960	3181/7707	1061/2568		INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855766	ACTGCCCC others(449): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACA TCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTA GAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCC TGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG CTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTA GAGACCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG04184.hp2 HG04184.hp2	a0143 a0143	a0143c0189 a0143c0189	a0143c0189t0001 a0143c0189t0001	a0143c0189t0001g0121 a0143c0189t0001g0121	1	368	0.0027	-456	c.323 others(9): Show c.3237_3692del	p.Thr others(15): Show p.Thr1080_Thr1231del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3618/8960	3237/7707	1079/2568		INFO_REALIGN_3_PRIME	chr15	TogoVar
ACSM2A_chr16_20446521_20492669	20464562	ATCTTATG others(449): Show ATCTTATGATCTCATTTATCACCAAGGGGATGGTGCTAAGCCATTCATGA GGGTCCCACCCCCATGATCCAATCACCTCCCACCAAGCCCCACCTCTGAC ATTGGGGATTGCATTTCAACATGAGACTTGGAGAGGACAAATATTCAGAC AATATCATGTATCTAGAATAGTCAAATTCATAGAGTCGGAAAGTAGAATG GTGTTTATCAGGGCCTAAAGGGAGAGGGGATGACGGGTGATTGTGTAACG GGGACAGAGTTTTCATTTTGGATGATGAAAAACTCGGGAGATGGATGGTG GTGATTGTTGCATAACAATGAGAATGTACTTAATGCCACTGAACTGTACA CTCAAAAATAGTTAAAATTGGAAATGTTATGTGTATTTTTACTACAAAAT TAAAAAAAGTAAATAGATAGAGATACATATATAAATAAATCTAAAGTGAT ATTTGCC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0296 a0004c0004t0002g0296	1	436	0.0023	-456	c.178 others(15): Show c.178-953_178-498del		ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89400298	CGGTCATC others(449): Show CGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCT GCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTTC CCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGG GACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTG CTGCCCCAGGCTTCCCTGCGCTGGGGGATGGTCATCTGCTGCCCCAGGCT TCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGG GGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGATGGTCATC TGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGG CTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCT GGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0121 a0002c0002t0010g0121	1	310	0.0032	-456	c.-60 others(19): Show c.-60+17530_-60+17985del		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12						chr16	TogoVar
ARHGAP21_chr10_24578614_24728887	24656801	GGCCCCCC others(449): Show GGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTC AGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGAAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCAGGGAGGGAGGTGGG GGGGTCA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0137 a0005c0005t0001g0137	1	352	0.0028	-456	c.268 others(18): Show c.268+9728_268+10183del		ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25						chr10	TogoVar
ASAP1_chr8_130047104_130448674	130049228	GGGGCAGA others(449): Show GGGGCAGAGGGGAACATATGGGGGGCAGAGGGGAACACATGGGGGGCAGA GGAGAACACATGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACAC ATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGGC AGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGA ACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGG GGCAGAGGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGG GGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACAT GGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCA GAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAAC ACATGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0258 a0002c0002t0003g0258	1	308	0.0033	-456	c.50 others(11): Show c.5047_*5502del		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2875		chr8	TogoVar
B4GALNT4_chr11_364499_387117	384901	ACACAGCT others(449): Show ACACAGCTGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGC AAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCC CAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAAC CCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGG GCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACT CCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGA ACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCC GGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCA CTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTG GAACCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 NA19088.hp1 NA20805.hp1 HG00408.hp1 NA19088.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0117 a0002c0002t0001g0148 a0002c0002t0001g0182 a0002c0002t0001g0117 a0002c0002t0001g0148 a0002c0002t0001g0182	3	184	0.0163	-456	c.31 others(11): Show c.3110_*3565del		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding					2785		chr11	TogoVar
BCL11A_chr2_60452194_60558654	60467341	GGTGGTAA others(449): Show GGTGGTAATGGTGGTGGTGGTGATGGTGGTGATGATGGTGATGGTACTGG TGGTGATGGTGATGGTGATGGTACTGGTGATGGTGGTGGTGGTAGTGATG GTGGTGGTAATGGTGGTGGTGGTGATGGTGGTGGTAATGGTGGTGGTGGT GATGGTGGTGATGATGGTGATGGTACTGGTGGTGATGGTGATGGTGATGG TACTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTG GTGATGGTGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGT GATGGTGGTGATGATGGTGATGGTACTGGTGGTGATGGTGATGGTGGTGG TGGTGGTGATGGTACTGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTG GTAGTGATGGTGGTGGTAATGGTGGTGGTGGAGATGGTGGTGTTGATGGT GATGGTA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG01081.hp2 others(12): Show HG00280.hp2 HG00741.hp2 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01981.hp2 HG02258.hp1 HG02486.hp1 HG02970.hp2 HG03139.hp1 HG03453.hp1 HG03579.hp1 HG03704.hp2 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 others(8): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0025 a0001c0001t0030 a0001c0001t0035 a0001c0001t0039 a0001c0001t0040 a0001c0001t0060	a0001c0001t0003g0149 a0001c0001t0007g0092 a0001c0001t0007g0095 others(11): Show a0001c0001t0003g0149 a0001c0001t0007g0092 a0001c0001t0007g0095 a0001c0001t0010g0015 a0001c0001t0010g0030 a0001c0001t0011g0002 a0001c0001t0011g0188 a0001c0001t0015g0193 a0001c0001t0025g0003 a0001c0001t0030g0026 a0001c0001t0035g0080 a0001c0001t0039g0142 a0001c0001t0040g0117 a0001c0001t0060g0216	15	262	0.0573	-456	c.487 others(16): Show c.487+935_487+1390del		BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3						chr2	TogoVar
CBFA2T3_chr16_88869858_88982207	88955482	ACCCAAGG others(449): Show ACCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCACCCAAGGCTCC TGACCCCACCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCACCCA AGGCTCCTGACCCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACC CTACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTCACCCAAGGCT CCTGACCCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTCAGC CAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGA CCTCAGCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTCACCCAAGG CTCCTGACCTCACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCA GCCAAGTCTCCTGACCCCGCCCAAGGCTCCTGACCCCAGCCAAGGCTCCT GACCCCG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG06807.hp2 HG02723.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0032 a0001c0001t0001 a0001c0008t0032	a0001c0001t0001g0103 a0001c0008t0032g0146 a0001c0001t0001g0103 a0001c0008t0032g0146	2	284	0.0070	-456	c.151 others(19): Show c.151+20719_151+21174del		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CHCHD3_chr7_132779870_133087090	132857171	AAAACAAA others(449): Show AAAACAAAAGGCTTTCAAAGATCCATTTCTAAAAGGAGCTAGGAAGAGAG GCTGTCTTATTAAATCCATGAAACTGGAGCTAGAATCATTGAACTTTAAC GTGTAAAGACCTTCCAGGTCATCAAATCCTTTCCCAAGAATCTTCTTTAC AGTATCCCCGACAAGTGATTGTTCTCATTGTGCCTGAAACACTACTGGTG ACAGGGAGACTGGCAAATCTCAGAAGGCAGCCTATTTTATATATTTATTT TTTTGAGACGGAGTTCTGCTCTTGTTGCCCAGGCTGGAGTCCAATGGTGT GGTCTTGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAGCGATTCTCCTG CCTCAGCCTTCTGAATAGTTGGGATGACAGACACCCGCCACCACCCCCAG CTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGC TGGTCTC	A A	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	310	0.0032	-456	c.454 others(19): Show c.454-19158_454-18703del		CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	5/7						chr7	TogoVar
CNN2_chr19_1021608_1044065	1033691	GGTGTCTG others(449): Show GGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAG ACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTG GGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGT GTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCG TGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTG TCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGC AGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGAC GGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAG ACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTG GGACACA	G G	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	390	0.0026	-456	c.390 others(16): Show c.390+996_390+1451del		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6						chr19	TogoVar
CNN2_chr19_1021608_1044065	1033813	GGGGAGCG others(449): Show GGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGG ACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGT AGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTG GGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTC TGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAG CGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGG TGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACATTGTCTGGTGTAGAC CGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGG ACACGGTGTCTGGTGTAGACGGTAAGCGTGGGTGGGACACGGTGTCTGGT GTAGACC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG01167.hp1 others(7): Show HG00733.hp2 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG02015.hp2 HG02280.hp2 HG03669.hp1 HG03704.hp2 HG04228.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0017 a0001c0002t0004	a0001c0001t0001g0050 a0001c0001t0005g0008 a0001c0001t0005g0067 others(6): Show a0001c0001t0001g0050 a0001c0001t0005g0008 a0001c0001t0005g0067 a0001c0001t0005g0074 a0001c0001t0005g0081 a0001c0001t0009g0216 a0001c0001t0017g0008 a0001c0001t0017g0073 a0001c0002t0004g0137	10	390	0.0256	-456	c.390 others(17): Show c.390+1154_390+1609del		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
COL5A1_chr9_134636803_134849843	134849283	GGGATCAC others(449): Show GGGATCACACCTCCCAGGAACCACAATATCACACCTCCCAGGAACCACGA TATCACACCTCCCAGGAACCACGATATCACACCTCCCAGGAACCACGATA TCACACCTCCCAGGAAGCACGGGATCAGACCTCCTGGGGAGCACGGGATC ACACCTCCCAGGAAGCACAGTATCACACCTCCCAGGAAGCACGGGATCAC ACCTCCCAGGAACCACGATATCACACCTCCCAGGAAGCACAGGATCACAC CTCCCAGGAACCATGATATCACACCTCCCAGGGAGCACAGGATCAGACCC CCCAGGGAGCACAGGATCACACCTCTCAGGAAGAACAGGATCACACCTCC CGGGGAAGACGATAGCACACCTCCCAGCGAGTGTGAGATCACACCTCCCA GTGAGCGTGGGATCACACCTCCCAGGAAGCATGGTATCACACCTCCCAGG AAGCACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02922.hp1 NA18906.hp1 HG01884.hp2 HG02922.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0026 a0001c0003 a0001c0007 a0001c0026	a0001c0003t0004 a0001c0007t0006 a0001c0026t0006 a0001c0003t0004 a0001c0007t0006 a0001c0026t0006	a0001c0003t0004g0038 a0001c0007t0006g0002 a0001c0026t0006g0101 a0001c0003t0004g0038 a0001c0007t0006g0002 a0001c0026t0006g0101	3	272	0.0110	-456	c.69 others(11): Show c.6981_*7436del		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding					4441		chr9	TogoVar
GALNS_chr16_88808734_88861947	88825032	TGGGGCTG others(449): Show TGGGGCTGGGGTGCCTGGGCGGCCGGGGCTGGAGCTCCTGGGTGGCCAGG GCTGGGGTGACTGGGTATCTGGGGCGCCTGGGTGTCTGGGGCTGGGGTGT CTGGGCGGCCGGGGCTGGGGTGACTGGGTGTTTGGGCGGCCGGGGCTGGG GTGACTGGGTGTCTAGGGTGCCTGGGTGTCTGGGGCGCCTGGGTGTCTGG GGCTGGGGTGTCTGGGTGGCCAGGGCTGGGGTGCCTGGGTGTTTGGGCAG CCGGGGCTGGGGTGCCTGGGTGGCCGGGGCGACTGGGTATCTGGGGTGCC TGGGTGTCTGGGGCTGGGGTGTCTGGGCAACCGGGGCTGGGGTGGCTGGG TGTCTGGGTGGCCGGGGCTGGGGTGACTGGGTGTCTGGGGTGCCTGGGTG TCTAGGGCTGGAGTGCCTGGGCGGCCAGGGCTGGGGTACCTGGGTGTCTG GGCGGCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp2 HG02622.hp1 others(1): Show HG02145.hp2 HG02559.hp2 HG02622.hp1 HG03098.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0018 a0005c0012t0001g0019 a0005c0012t0001g0020 others(1): Show a0005c0012t0001g0018 a0005c0012t0001g0019 a0005c0012t0001g0020 a0005c0012t0001g0021	4	404	0.0099	-456	c.114 others(17): Show c.1140-619_1140-164del		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	10/13						chr16	TogoVar
KANK1_chr9_499695_751103	707536	GTCCTGGA others(449): Show GTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTT TCAGACATTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAA TGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTC CTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGC TTCTCTCCTGTTAATGGAGTTTCAGACATTCCTGGAGACAGGTCTGGCTG CTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGT CTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGA GACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAG TCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTT CAGACAT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19240.hp2 NA19043.hp2 NA19240.hp2	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0002 a0008c0006t0002	a0008c0006t0002g0071 a0008c0006t0002g0097 a0008c0006t0002g0071 a0008c0006t0002g0097	2	254	0.0079	-456	c.38- others(15): Show c.38-3211_38-2756del		KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK1_chr9_499695_751103	707754	GTTTCAGA others(449): Show GTTTCAGACATTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGT TAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCT CTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGC AGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGG CTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACATTCCTGGAGACA GGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCT GGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGA CAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAA TTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTT AATGGAA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0012 a0012	a0012c0009 a0012c0009	a0012c0009t0008 a0012c0009t0008	a0012c0009t0008g0229 a0012c0009t0008g0229	1	254	0.0039	-456	c.38- others(15): Show c.38-3040_38-2585del		KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
LOC128462377_chr16_89312046_89423292	89400298	CGGTCATC others(449): Show CGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCT GCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTTC CCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGG GACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTG CTGCCCCAGGCTTCCCTGCGCTGGGGGATGGTCATCTGCTGCCCCAGGCT TCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGG GGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGATGGTCATC TGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGG CTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCT GGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0040 a0001c0001t0000g0040	1	366	0.0027	-456	c.9+1 others(15): Show c.9+17530_9+17985del		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1						chr16	TogoVar
MUC20_chr3_195715978_195738551	195725120	TCCTCAGA others(449): Show TCCTCAGAGAGCAGCGCCTCTTCCGACAGCCCCCATCCAGTCATCACCCC GTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCA TCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCAT CCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGG CCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTT CCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGC GCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGA GAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGG CCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCG TCACGGG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00544.hp2 HG00741.hp1 HG01975.hp1 others(17): Show HG00544.hp2 HG00741.hp1 HG01975.hp1 HG01978.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02738.hp1 HG02886.hp2 HG02897.hp1 HG02965.hp1 HG03688.hp1 NA18949.hp1 NA18956.hp1 NA18968.hp1 NA18972.hp2 NA19000.hp1 NA19057.hp2 NA19062.hp1	a0000 a0008 a0011 others(6): Show a0000 a0008 a0011 a0013 a0028 a0030 a0046 a0050 a0053	a0000c0008 a0000c0028 a0008c0011 others(8): Show a0000c0008 a0000c0028 a0008c0011 a0011c0014 a0013c0038 a0013c0039 a0028c0064 a0030c0068 a0046c0072 a0050c0043 a0053c0027	a0000c0008t0003 a0000c0028t0004 a0008c0011t0001 others(8): Show a0000c0008t0003 a0000c0028t0004 a0008c0011t0001 a0011c0014t0002 a0013c0038t0001 a0013c0039t0001 a0028c0064t0001 a0030c0068t0002 a0046c0072t0002 a0050c0043t0002 a0053c0027t0007	a0000c0008t0003g0001 a0000c0008t0003g0012 a0000c0008t0003g0027 others(15): Show a0000c0008t0003g0001 a0000c0008t0003g0012 a0000c0008t0003g0027 a0000c0008t0003g0033 a0000c0028t0004g0101 a0008c0011t0001g0005 a0008c0011t0001g0038 a0008c0011t0001g0064 a0008c0011t0001g0089 a0011c0014t0002g0011 a0011c0014t0002g0107 a0013c0038t0001g0035 a0013c0039t0001g0013 a0028c0064t0001g0084 a0030c0068t0002g0054 a0046c0072t0002g0011 a0050c0043t0002g0014 a0053c0027t0007g0100	20	185	0.1081	-456	c.544 others(7): Show c.544_999del	p.Ser others(13): Show p.Ser182_Asp333del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	574/2493	544/2130	182/709		INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC20_chr3_195715978_195738551	195725208	CCCATCCA others(449): Show CCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCC GACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGC CTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGA GCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCC TCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTC ACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCA CCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCA GTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCC CCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCG ACGGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03704.hp1 HG03704.hp1	a0038 a0038	a0038c0056 a0038c0056	a0038c0056t0001 a0038c0056t0001	a0038c0056t0001g0065 a0038c0056t0001g0065	1	185	0.0054	-456	c.738 others(8): Show c.738_1193del	p.Ser others(13): Show p.Ser247_Pro398del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	768/2493	738/2130	246/709		INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC20_chr3_195715978_195738551	195725341	GTCACGGG others(449): Show GTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCA TCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCAT CCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGG CCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTT CCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGC GCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGA GAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGG CCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCG TCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCAT CACCCCC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02257.hp2 NA18951.hp2 NA18991.hp1 others(1): Show HG02257.hp2 NA18951.hp2 NA18991.hp1 NA19084.hp2	a0016 a0029 a0048 a0016 a0029 a0048	a0016c0021 a0029c0066 a0048c0041 a0016c0021 a0029c0066 a0048c0041	a0016c0021t0001 a0029c0066t0001 a0048c0041t0002 a0016c0021t0001 a0029c0066t0001 a0048c0041t0002	a0016c0021t0001g0006 a0029c0066t0001g0002 a0048c0041t0002g0024 a0016c0021t0001g0006 a0029c0066t0001g0002 a0048c0041t0002g0024	4	185	0.0216	-456	c.742 others(8): Show c.742_1197del	p.Arg others(13): Show p.Arg248_Ser399del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	772/2493	742/2130	248/709		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYT1L_chr2_1784113_2336275	1829278	CTCCCATA others(449): Show CTCCCATACACCTGTGAACTGACCCTCCCATACACCTGTGAACTGACCCT CCCATACACCTGTGAACTGACCCTCCCATACACCTGTGAACTGACCCTCC CATACACCTGTGAACTGACCCTCCCATACACCTGTGAACTGACCCTCCCA TACACCTGTGAACTGACCCTCCCATACACCTGTGAACTGACCCTCCCATA CACCTGTGAACTGACCCTCCCATACACCTGTGAACTGACCCTCCCATACA CCTGTGAACTGACCCTCCCATGCACCTGTGAACTGACCCTCCCATGCACC TGTGAATTGACCCTCCCATGCACCTGTGAACTGACCCTCCCATACACCTG TGAACTGACCCTCCCATACACCTGTGAACTGACCCTCCCATACACCTGTG AATTGACCCTCCCATACACCTGTGAATTGACCCTCCCATACACCTGTGAA TTGACCT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0077 a0001c0003t0003g0077	1	104	0.0096	-456	c.308 others(19): Show c.3080+9415_3080+9870del		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	21/24						chr2	TogoVar
NFATC1_chr18_79390930_79534323	79505285	CGTGGGAG others(449): Show CGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAG ACTGCTGCGTGGGAGGAGGTGATGCTGGAGGCCCTTGGGTGATGGAAGAG GCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAG AGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGATGCTGGAGGCCCTT GGGTGATGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGA GGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGG TGGATGAGACCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGCGTGGGAG GAGGTGGTGGACGAGACCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGT GTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGA CTGCTGT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02897.hp2 NA19240.hp1 HG01255.hp1 HG02897.hp2 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0010 a0001c0054 a0001c0006 a0001c0010 a0001c0054	a0001c0006t0002 a0001c0010t0028 a0001c0054t0041 a0001c0006t0002 a0001c0010t0028 a0001c0054t0041	a0001c0006t0002g0307 a0001c0010t0028g0079 a0001c0054t0041g0007 a0001c0006t0002g0307 a0001c0010t0028g0079 a0001c0054t0041g0007	3	322	0.0093	-456	c.278 others(21): Show c.2782+18365_2782+18820del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NXN_chr17_794310_984776	942100	AGTGAACA others(449): Show AGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTTCCTG GATTTACAGCGAACAAGATTCCAGGGCGCAGCCATGAATTCACCACACAC CTCCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAACTCAC ATCACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATG AATTCACCAAACACCTCCCTGGATTTACAGTGAACAAGATTCCAGGGTGC AGCCATGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAGATTCC AGGGTGCAGCCATGAATTCACCACACACCTTCCTGGATTTACAGTGAACA AGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTCCCTGGATTTACA GCGAACAAGATTCCAGGGCGCAGCCATGAACTCACATCACACCTTCCTGG ATTTACG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0022 a0001c0003t0008g0022	1	242	0.0041	-456	c.360 others(19): Show c.360+36763_360+37218del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	942487	CCCTGGAT others(449): Show CCCTGGATTTACAGCGAACAAGATTCCAGGGCGCAGCCATGAACTCACAT CACACCTTCCTGGATTTACGGTGAACAAGATTCCAGGGTGCAGCCATGAA TTCACCAAACACCTTCCTGGATTTCCAGTGAACAAGATTCCAGGGTGCAG CCATGAACTCACATCACACCTTCCTGGATTTACAGCGAACAAGATTCCAG GGCGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAG ATTCCAGGGTGCAGCCATGAATTCACCAAACACCTCCCTGGATTTACAGT GAACAAGATTCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGAT TTACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTC CCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAACTCACATC ACACCTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	242	0.0041	-456	c.360 others(19): Show c.360+36376_360+36831del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
PCGF3_chr4_700832_775089	745783	CCGGGGTC others(449): Show CCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCG	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0120 a0001c0001t0007g0120	1	366	0.0027	-456	c.462 others(17): Show c.462+1096_462+1551del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10						chr4	TogoVar
PCGF3_chr4_700832_775089	747150	CGGGGTCG others(449): Show CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAG TGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0043 a0002c0002t0043	a0002c0002t0043g0268 a0002c0002t0043g0268	1	366	0.0027	-456	c.462 others(17): Show c.462+2519_462+2974del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
POLE_chr12_132618762_132692342	132684103	CTGACTGG others(449): Show CTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACACAGGCTCTCAT TCACAGAGAGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACT CCACACAGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATC ACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGCTACCATTGA CTGGTTACTATATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCAC AGAGAGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCAC ACAGGCTCTCATTCACAGAGCTACCATTGACTGGTTACTATATCACACCG TCCCAGTACTCCACACAGGCTCTCATTCACAGAGCTACCATTGACTGGTT ACTATATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAG CTACCAT	C C	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	292	0.0034	-456	c.62+ others(15): Show c.62+2695_63-2825del		POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	1/48						chr12	TogoVar
PRKCZ_chr1_2045411_2190395	2123703	AGTTAGGG others(449): Show AGTTAGGGTGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGG TAGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTG GTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGT GGTGGTTAGGGTCACGGTGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCA CGGCGGCGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGCGGTGGTTAGG GTCACGGCGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCGTGGTGGTTAG GGTCACGGTGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGG TTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCG ACGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCAC GGCGGTG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18997.hp1 HG02056.hp2 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0143 a0001c0002t0004g0144 a0001c0002t0001g0143 a0001c0002t0004g0144	2	286	0.0070	-456	c.335 others(19): Show c.335-11550_335-11095del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PXMP2_chr12_132682587_132709985	132684103	CTGACTGG others(449): Show CTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACACAGGCTCTCAT TCACAGAGAGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACT CCACACAGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATC ACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGCTACCATTGA CTGGTTACTATATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCAC AGAGAGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCAC ACAGGCTCTCATTCACAGAGCTACCATTGACTGGTTACTATATCACACCG TCCCAGTACTCCACACAGGCTCTCATTCACAGAGCTACCATTGACTGGTT ACTATATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAG CTACCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	-456	c.-35 others(11): Show c.-3567_-3112del		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding					3483		chr12	TogoVar
RNF213_chr17_80255852_80403794	80315052	TAATGGAG others(449): Show TAATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTG ATGGTGGTAAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTAAAGGT GATGGTGGAGGTAATGGAGGTGATGGTGGTGGACGTGATGGTGGAGGTAA TGGAGGTGATGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGTG GACGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGAGGT AATGGAGGTGATGGTGGTGGTGGTGATGGTGGAGGTACTAGAGGTGATGG CGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTG GTGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGT GGTGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGG TGGTGGA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0025 a0025	a0025c0038 a0025c0038	a0025c0038t0006 a0025c0038t0006	a0025c0038t0006g0007 a0025c0038t0006g0007	1	292	0.0034	-456	c.281 others(19): Show c.2811+1886_2812-1680del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67						chr17	TogoVar
RTEL1_chr20_63653312_63701245	63669986	GCCAAGAT others(449): Show GCCAAGATGGGTGGAATGGCCAGTTAACCACTGGGAGAGCATCCGGACAG ACGTTTCGCCAAGATGGGTGGAATGGCCAGTTAACCACTGGGAGAGCATC CGGACAGACGTTTCGCCAAGATGGGTGGAATGGCCAGTTAACCACTGGGA GAGCATCCGGACAGACGTTTCGCCAAGATGGGTGGAATGGCCAGTTAACC ACTGGGAGAGCATCCGGACAGACGTTTCGCCAAGATGGGTGGAATGGCCA GTTAACCACTGGGAGAGCATCCGGACAGACGTTTCGCCAAGATGGGTGGA ATGGCCAGTTAACCACTGGGAGAGCATCCGGACAGACGTTTCGCCAAGAT GGGTGGAATGGCCAGTTAACCACTGGGAGAGCATCCGGACAGACGTTTCG CCAAGATGGGTGGAATGGCCAGTTAACCACTGGGAGAGCATCCGGACAGA CGTTTCA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0002 a0010c0019t0002	a0010c0019t0002g0014 a0010c0019t0002g0014	1	60	0.0167	-456	c.699 others(17): Show c.699+2439_700-2109del		RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	8/34					INFO_REALIGN_3_PRIME	chr20	TogoVar
SBNO2_chr19_1102638_1179268	1137554	GTGGGGGG others(449): Show GTGGGGGGAGGCTCGGGCTGGGGTGCGGTGGGGGGAGGCTCGGGCTGGGG TGCGGTGGGGGGAGGCTCGGGCTGGGGTGCAGTGGGGGGAGGCTCGGGCT GGGGTGCAGTGGGGGGAGGCTCGGGCTGGGGTGCAGTGGGGGGAGGCTCA GGCTGGGGGGAGGCTCGGGCTGGGGTGCGGTGGGGGGAGGCTCGGGCTGG GGTGCGGTGGGGGGAGGCTCGGGCTGGGGTGCGGTGGGGGGAGGCTCGGG CTGGGGTGCAGTGGGGGGAGGCTCAGGCTGGGGGGAGGCTCGGGCTGGGG TGCGGTGGGGGGAGGTTCGGGCTGGGGTGCGGTGGGGGGAGGCTCGGGCT GGGGTGCGGTGGGGGGAGGCTCGGGCTGGGGTGCGGTGGGGGGAGGCTCG GGCTGGGGTGCAGTGGGGGGAGGCTCGGGCTGGGGTGCAGTGGGGGGAGG CTCAGGC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01099.hp2 others(19): Show HG00408.hp2 HG00438.hp2 HG01099.hp2 HG01243.hp1 HG01255.hp2 HG01928.hp1 HG01943.hp1 HG02055.hp2 HG02129.hp2 HG02572.hp1 HG02647.hp2 HG03688.hp1 HG04184.hp1 HG04228.hp1 HG06807.hp2 NA18945.hp1 NA19005.hp1 NA19030.hp2 NA19057.hp1 NA19080.hp1 NA19081.hp1 NA19085.hp1	a0000 a0001 a0003 a0000 a0001 a0003	a0000c0014 a0001c0005 a0001c0007 others(6): Show a0000c0014 a0001c0005 a0001c0007 a0001c0010 a0001c0023 a0001c0032 a0001c0034 a0001c0038 a0003c0012	a0000c0014t0001 a0001c0005t0001 a0001c0007t0001 others(7): Show a0000c0014t0001 a0001c0005t0001 a0001c0007t0001 a0001c0010t0001 a0001c0023t0001 a0001c0032t0001 a0001c0034t0001 a0001c0038t0001 a0003c0012t0002 a0003c0012t0007	a0000c0014t0001g0002 a0000c0014t0001g0067 a0000c0014t0001g0098 others(19): Show a0000c0014t0001g0002 a0000c0014t0001g0067 a0000c0014t0001g0098 a0001c0005t0001g0024 a0001c0005t0001g0045 a0001c0005t0001g0051 a0001c0005t0001g0068 a0001c0005t0001g0088 a0001c0005t0001g0117 a0001c0005t0001g0123 a0001c0005t0001g0135 a0001c0005t0001g0160 a0001c0007t0001g0099 a0001c0007t0001g0182 a0001c0007t0001g0185 a0001c0010t0001g0193 a0001c0023t0001g0102 a0001c0032t0001g0156 a0001c0034t0001g0148 a0001c0038t0001g0153 a0003c0012t0002g0178 a0003c0012t0007g0195	22	203	0.1084	-456	c.279 others(17): Show c.279+9299_279+9754del		SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31						chr19	TogoVar
SCRN1_chr7_29915109_29994801	29984948	AATAAGGA others(449): Show AATAAGGAGCCAATTAAATATATAAGGTGAACAAAGATTTAAAAATTTGA TAATATCTAGTCTTGACTTGTGTGGGGAAAGTAGCTTTGGGTAATTTGGC CAAATCTAACAGATTAACATAACCAGTGAAGTTGGTAGACAGCTCTTGTT CATCTCATCCTAAAAGGAAGGAGACTGGGCTGGGCGCGGTGGCTCACACC TGTAATCCCAGCACTTGGGAGACTGAGGCAGGCGGATCATGAGGTCAGGA GTTTGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAAA TACAAAAATTAGCCAGGCATGGTGGTGCGCACCTGTAATCCCAGCTACTC AGGAGACTAAAGCAGGAGAAATCACTTGAACCTGGGGGGACAGAGGTTGC AGTGAGCTGAGATCACGCCACTACACTCCAGCCTGGGTGACAGAGTGAGA CTCTGTC	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0236 a0001c0001t0013g0236	1	274	0.0037	-456	c.-2+ others(15): Show c.-2+4238_-2+4693del		SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding	1/7						chr7	TogoVar
SH3RF3_chr2_109124205_109509634	109199333	TGGAATGG others(449): Show TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGATGGAATGGAATGGGATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00735.hp1 HG00738.hp1 others(28): Show HG00438.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01243.hp1 HG01891.hp1 HG01981.hp1 HG02055.hp2 HG02080.hp1 HG02132.hp2 HG02257.hp2 HG02717.hp1 HG02818.hp2 HG02922.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03540.hp1 HG03704.hp1 HG04184.hp1 NA18975.hp2 NA18983.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19056.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0016 a0001c0024 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0019 a0001c0001t0023 a0001c0001t0041 a0001c0001t0053 a0001c0001t0064 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0003t0032 a0001c0003t0065 a0001c0007t0061 a0001c0008t0012 a0001c0016t0003 a0001c0024t0002 a0003c0006t0008	a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 others(28): Show a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0003g0082 a0001c0001t0003g0112 a0001c0001t0007g0151 a0001c0001t0009g0143 a0001c0001t0009g0147 a0001c0001t0009g0152 a0001c0001t0012g0148 a0001c0001t0019g0103 a0001c0001t0023g0144 a0001c0001t0041g0050 a0001c0001t0053g0014 a0001c0001t0064g0101 a0001c0001t0069g0090 a0001c0001t0071g0081 a0001c0001t0072g0136 a0001c0003t0032g0135 a0001c0003t0065g0106 a0001c0007t0061g0109 a0001c0008t0012g0150 a0001c0016t0003g0102 a0001c0024t0002g0080 a0003c0006t0008g0008	31	172	0.1802	-456	c.573 others(19): Show c.573+69221_573+69676del		SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9						chr2	TogoVar
SLC66A2_chr18_79897420_79956653	79920228	GAGGAGAG others(449): Show GAGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGG AACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGA GGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAAGGTCAG TGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGAC AGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGT CAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAG ACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGA GGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAA GGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG04115.hp1 HG00438.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0138 a0001c0001t0009g0265 a0001c0001t0005g0138 a0001c0001t0009g0265	2	352	0.0057	-456	c.392 others(16): Show c.392-1284_392-829del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
SMOC2_chr6_168436184_168672992	168592732	GGGCATCT others(449): Show GGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTTCTTCCTGAGGCCTCA CGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGC CTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTTCTTCCTGAGG CCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAG GCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGA GGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTG AGGCCTC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02129.hp2 HG02895.hp2 others(3): Show HG01496.hp2 HG02129.hp2 HG02895.hp2 HG02897.hp2 HG03490.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0156 a0001c0001t0004g0118 a0001c0002t0002g0028 others(3): Show a0001c0001t0001g0156 a0001c0001t0004g0118 a0001c0002t0002g0028 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0008g0047	6	180	0.0333	-456	c.638 others(17): Show c.638-6085_638-5630del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12						chr6	TogoVar
SMOC2_chr6_168436184_168672992	168614672	CCTACAGC others(449): Show CCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACATGGAGCC TCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCAC AGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCATACCTACAGC CAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACC TACAGCCAGCACAGGGGACCTCTTCACACCTACAGCCAGCACAGGGGGCC TCTTCACACCTACAGCCAGCACAGTACCTCTTCACACCTACAGCCAGCAC AGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCATACCTACAGC CAGCACAGGGCCTCTTCACATCTACAGCCAGCACAGGGCCTCTTCATACT TACAGCCGGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTC TTTACAT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18906.hp2 HG03139.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0075 a0001c0001t0001g0078	2	180	0.0111	-456	c.907 others(17): Show c.907+6451_907+6906del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	245974677	CAGGGAAA others(449): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCTGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCT GTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	150	0.0067	-456	c.532 others(19): Show c.532-45196_532-44741del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976305	AGCCCAGG others(449): Show AGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGC CATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATC GTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	150	0.0067	-456	c.532 others(19): Show c.532-46824_532-46369del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976501	CAGGGAAA others(449): Show CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCAGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGA AAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGC CATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCA TCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATC GTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCT CTAGCCT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	150	0.0067	-456	c.532 others(19): Show c.532-47020_532-46565del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SNTG2_chr2_945849_1372613	1342518	GGCAGCTT others(449): Show GGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAA GCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGG CACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGAC TTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTT CCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAG GACAGCA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp1 HG01109.hp2 others(4): Show HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01257.hp2 HG03927.hp2 NA18990.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0008	a0002c0003 a0002c0005 a0003c0008 others(2): Show a0002c0003 a0002c0005 a0003c0008 a0005c0006 a0008c0011	a0002c0003t0001 a0002c0005t0001 a0003c0008t0001 others(2): Show a0002c0003t0001 a0002c0005t0001 a0003c0008t0001 a0005c0006t0001 a0008c0011t0001	a0002c0003t0001g0061 a0002c0003t0001g0129 a0002c0003t0001g0185 others(4): Show a0002c0003t0001g0061 a0002c0003t0001g0129 a0002c0003t0001g0185 a0002c0005t0001g0101 a0003c0008t0001g0060 a0005c0006t0001g0019 a0008c0011t0001g0004	7	190	0.0368	-456	c.148 others(21): Show c.1489-24597_1489-24142del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
STK32B_chr4_5046480_5505989	5317005	AATATATA others(449): Show AATATATATAATATATAATATATATGATATAATATATTATATATATAATA TATATGATATAATATATTATATATTATATATATAATATATATGATATAAT ATATAATATATATAATACATTATAATATATAATATATATGTATAATATAC ATATTACATATATATAACATATAATATATATATATAACATATATATATTA TATATATAACATATATATATTATATATAACATATATATATTATATATAAC ATATAACATATATATAATATATAACATATAACATATATATAATATATAAT ATATAACATATGTATAATATATATTACATATATAATACATATATATAATA TATATAATGTATATGTATTATATATATTACATATATATAATATATATAAT GTATATGTATTATATATAATACATATATATTACATATATACATAATATAT ATAATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0165 a0001c0001t0005g0165	1	170	0.0059	-456	c.261 others(19): Show c.261-14210_261-13755del		STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
TRIM74_chr7_72954485_72974466	72961943	AGGGCCGG others(449): Show AGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCTGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAC AGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCATGG TGGCGGGCACCTGTAGTCCCAGCTACTCCGGAGGCTGAGTCAGGAGAATG GCATGAACTTGGGAGGAGGAGGTTGCAGTGAGCCGAGATTGCGCCACAGC ACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAGAAAAAAAAAAAA GAATATTCTAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTT AGGAGGCCAAGATGGGAGGATCACTTGAGGCTAGGAATTTGAGACCAGAC TGGGCAACACAGTGAAATCCCATCTCTAATGTTTTTTTTTTCTTCAAAGA ATATTCT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03453.hp1 HG01243.hp2 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0085 a0001c0004t0003g0086 a0001c0004t0003g0085 a0001c0004t0003g0086	2	304	0.0066	-456	c.400 others(15): Show c.400-954_400-499del		TRIM74	ENSG00000155428.12	transcript	ENST00000285805.3	protein_coding	2/4						chr7	TogoVar
UBC_chr12_124906646_124919650	124912491	CCCAGCAA others(449): Show CCCAGCAAAGATCAACCTCTGCTGGTCAGGAGGGATGCCTTCCTTGTCTT GGATCTTTGCCTTGACATTCTCAATGGTGTCACTCGGCTCCACCTCGAGA GTGATGGTCTTACCAGTCAGGGTCTTCACGAAGATCTGCATCCCACCTCT GAGACGGAGCACCAGGTGCAAGGTGGACTCTTTCTGGATGTTGTAGTCAG ACAGGGTACGACCATCTTCCAGCTGTTTTCCGGCAAAGATCAACCTCTGC TGGTCAGGAGGGATGCCTTCCTTGTCTTGGATCTTTGCCTTGACATTCTC AATGGTGTCACTCGGCTCCACTTCGAGAGTGATGGTCTTACCAGTCAGGG TCTTCACGAAGATCTGCATCCCACCTCTGAGACGGAGCACCAGGTGCAGG GTAGACTCTTTCTGGATGTTGTAGTCAGACAGGGTGCGCCCATCTTCCAG CTGCTTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0003 a0002c0027t0003	a0002c0027t0003g0049 a0002c0027t0003g0049	1	446	0.0022	-456	c.825 others(8): Show c.825_1280del	p.Lys others(13): Show p.Lys276_Gly427del	UBC	ENSG00000150991.16	transcript	ENST00000339647.6	protein_coding	2/2	1347/2193	825/2058	275/685			chr12	TogoVar

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Search Results (Total: 10000 hits)