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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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
DOCK1_chr10_126900428_127457516	127303651	GAGTGCAA others(33): Show GAGTGCAAGGCCAGCTTGGGCAGCATAGTGAGACCCTATCT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01261.hp1 HG02280.hp1 others(21): Show HG01192.hp1 HG01261.hp1 HG02280.hp1 HG02486.hp1 HG02622.hp1 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA18943.hp2 NA18969.hp1 NA19090.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0001 a0001c0004 a0001c0006 others(17): Show a0001c0001 a0001c0004 a0001c0006 a0001c0009 a0001c0027 a0001c0028 a0001c0037 a0002c0010 a0002c0029 a0002c0035 a0002c0036 a0002c0070 a0003c0003 a0003c0019 a0003c0021 a0004c0020 a0004c0071 a0005c0014 a0005c0066 a0008c0057	a0001c0001t0002 a0001c0001t0003 a0001c0004t0002 others(19): Show a0001c0001t0002 a0001c0001t0003 a0001c0004t0002 a0001c0004t0010 a0001c0006t0001 a0001c0009t0002 a0001c0027t0002 a0001c0028t0001 a0001c0037t0002 a0002c0010t0002 a0002c0029t0001 a0002c0035t0003 a0002c0036t0001 a0002c0070t0002 a0003c0003t0004 a0003c0019t0004 a0003c0021t0003 a0004c0020t0003 a0004c0071t0003 a0005c0014t0009 a0005c0066t0003 a0008c0057t0002	a0001c0001t0002g0032 a0001c0001t0003g0050 a0001c0004t0002g0135 others(21): Show a0001c0001t0002g0032 a0001c0001t0003g0050 a0001c0004t0002g0135 a0001c0004t0010g0052 a0001c0006t0001g0041 a0001c0009t0002g0031 a0001c0027t0002g0113 a0001c0028t0001g0123 a0001c0037t0002g0117 a0002c0010t0002g0001 a0002c0029t0001g0131 a0002c0035t0003g0053 a0002c0036t0001g0069 a0002c0070t0002g0094 a0003c0003t0004g0108 a0003c0019t0004g0119 a0003c0021t0003g0003 a0003c0021t0003g0004 a0004c0020t0003g0023 a0004c0020t0003g0033 a0004c0071t0003g0114 a0005c0014t0009g0078 a0005c0066t0003g0073 a0008c0057t0002g0126	24	136	0.1765	-40	c.304 others(61): Show c.3045-35354_3045-35315delAGTGCAAGGCCAGCTTGGGCAGCA TAGTGAGACCCTATCT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	29/51			chr10	TogoVar
DOCK3_chr3_50669927_51389198	50803589	ACACCTCC others(33): Show ACACCTCCCAGACGGGGTGGCGGCCGGGCAGAGGGGCCCCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00735.hp1 others(23): Show HG00099.hp2 HG00140.hp2 HG00735.hp1 HG01175.hp2 HG01257.hp2 HG01516.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01993.hp2 HG02027.hp2 HG02148.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 NA18612.hp2 NA18944.hp1 NA18948.hp1 NA18951.hp2 NA18959.hp2 NA18995.hp1 NA19000.hp1 NA19005.hp1 NA19058.hp1 NA19079.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0014 a0002c0008 a0001c0001 a0001c0014 a0002c0008	a0001c0001t0001 a0001c0001t0005 a0001c0014t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0014t0001 a0002c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(23): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0005g0006 a0001c0001t0005g0018 a0001c0001t0005g0024 a0001c0014t0001g0015 a0002c0008t0001g0012	26	212	0.1226	-40	c.121 others(59): Show c.121+24844_121+24883delGGGGTGGCGGCCGGGCAGAGGGGCCC CCCACCTCCCAGAC	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK3_chr3_50669927_51389198	51248869	CCTCTGCC others(33): Show CCTCTGCCCGGCCGCCACCCCGTCTGGGAGGTGAGGAGCGT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	212	0.0047	-40	c.218 others(59): Show c.2184+2078_2184+2117delACCCCGTCTGGGAGGTGAGGAGCGTC TCTGCCCGGCCGCC	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	22/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK3_chr3_50669927_51389198	51308793	AGCTGCCG others(33): Show AGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02004.hp1 NA18998.hp2 HG00099.hp1 HG02004.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0002g0174 a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0002g0174	3	212	0.0142	-40	c.292 others(59): Show c.2923-1382_2923-1343delGCTCCTCACTTCTCAGACGGGGCGGC TGCCGGGCGGAGGG	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	27/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK4_chr7_111721110_112211399	111933070	ATATATAC others(33): Show ATATATACACATATATATACGTATATACACATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02647.hp1 HG01433.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0002g0044 a0001c0001t0001g0005 a0001c0001t0002g0044	2	106	0.0189	-40	c.106 others(59): Show c.1066+2430_1066+2469delCGTATATATATGTGTATATACGTATA TATATGTGTATATA	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	12/52			chr7	TogoVar
DOCK5_chr8_25179689_25420711	25410964	TGTGTGTG others(33): Show TGTGTGTGTGCGCGCGCGCGCACGCACGCACGCACGCACGC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp2 HG02155.hp2 others(15): Show HG01074.hp1 HG01243.hp2 HG02155.hp2 HG02572.hp1 HG02922.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03704.hp1 HG03942.hp2 HG04204.hp1 NA18946.hp2 NA18950.hp1 NA18952.hp1 NA18956.hp2 NA18962.hp2 NA19011.hp1 NA19081.hp1	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0017	a0001c0002 a0001c0003 a0001c0004 others(6): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0012 a0001c0020 a0003c0051 a0011c0042 a0017c0039	a0001c0002t0004 a0001c0002t0080 a0001c0002t0081 others(10): Show a0001c0002t0004 a0001c0002t0080 a0001c0002t0081 a0001c0003t0004 a0001c0003t0019 a0001c0004t0013 a0001c0004t0019 a0001c0008t0004 a0001c0012t0004 a0001c0020t0065 a0003c0051t0055 a0011c0042t0004 a0017c0039t0004	a0001c0002t0004g0050 a0001c0002t0004g0109 a0001c0002t0080g0090 others(15): Show a0001c0002t0004g0050 a0001c0002t0004g0109 a0001c0002t0080g0090 a0001c0002t0081g0126 a0001c0003t0004g0048 a0001c0003t0004g0121 a0001c0003t0004g0124 a0001c0003t0019g0140 a0001c0004t0013g0185 a0001c0004t0013g0199 a0001c0004t0013g0208 a0001c0004t0019g0139 a0001c0008t0004g0038 a0001c0012t0004g0031 a0001c0020t0065g0164 a0003c0051t0055g0202 a0011c0042t0004g0092 a0017c0039t0004g0067	18	210	0.0857	-40	c.550 others(57): Show c.5509-223_5509-184delGTGCGCGCGCGCGCACGCACGCACGCAC GCACGCGTGTGT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	51/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOK2_chr8_21903873_21918690	21916250	GAACTGAT others(33): Show GAACTGATGTGGGCCTGAGACGGGTGAAGGACTGAGCGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0029 a0010c0011t0001g0029	1	442	0.0023	-40	c.-26 others(51): Show c.-2689_-2650delTTTCGCTCAGTCCTTCACCCGTCTCAGGCCCACA TCAGTT	DOK2	ENSG00000147443.13	transcript	ENST00000276420.9	protein_coding		2561		chr8	TogoVar
DOK5_chr20_54470593_54656169	54481050	TGTCTATC others(33): Show TGTCTATCATCTATCTATCATCTATCTATCTATCATCTACC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02970.hp2 HG03209.hp2 HG02280.hp1 HG02970.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0001 a0001c0002t0015 a0001c0001t0014 a0001c0002t0001 a0001c0002t0015	a0001c0001t0014g0001 a0001c0002t0001g0002 a0001c0002t0015g0130 a0001c0001t0014g0001 a0001c0002t0001g0002 a0001c0002t0015g0130	3	130	0.0231	-40	c.66+ others(55): Show c.66+5039_66+5078delGTCTATCATCTATCTATCATCTATCTATCT ATCATCTACC	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	1/7			chr20	TogoVar
DOK6_chr18_69395888_69854087	69811541	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATCAAA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0069 a0001c0003t0069	a0001c0003t0069g0028 a0001c0003t0069g0028	1	170	0.0059	-40	c.857 others(59): Show c.857-29701_857-29662delTATATATATATATATATATATATATA TATATATATCAAAA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DONSON_chr21_33572551_33593684	33577604	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp1 HG02080.hp2 HG02109.hp2 others(5): Show HG01433.hp1 HG02080.hp2 HG02109.hp2 HG02896.hp1 HG03654.hp1 HG04228.hp1 NA19001.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0122 a0001c0001t0011g0126 a0001c0001t0011g0175 others(5): Show a0001c0001t0011g0122 a0001c0001t0011g0126 a0001c0001t0011g0175 a0001c0001t0011g0181 a0001c0001t0011g0216 a0001c0001t0011g0222 a0001c0001t0011g0230 a0001c0001t0011g0255	8	426	0.0188	-40	c.66 others(49): Show c.663_*702delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	10/10	663		chr21	TogoVar
DPEP1_chr16_89608642_89643433	89619547	TTCCCCCT others(33): Show TTCCCCCTGCTCCCCCCGCTCCCCTCCCTGCAGCCCCCTGG	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02280.hp1 HG02622.hp1 others(2): Show HG02129.hp1 HG02280.hp1 HG02622.hp1 HG02723.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 others(2): Show a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0225 a0002c0002t0003g0162	5	250	0.0200	-40	c.-10 others(59): Show c.-107+5868_-107+5907delGTCCCCCTGCTCCCCCCGCTCCCCTC CCTGCAGCCCCCTG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619587	GTCCCCCT others(33): Show GTCCCCCTGCTCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA19054.hp2 HG00673.hp1 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0165 a0002c0002t0003g0166 a0002c0002t0003g0165 a0002c0002t0003g0166	2	250	0.0080	-40	c.-10 others(59): Show c.-107+5873_-107+5912delCCTGCTCCCCCCGCTCCCCTCCCTGC AGCCCCCTGCTCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP2NB_chr16_68008436_68020911	68010077	CTTCCTTC others(33): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCATCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	362	0.0028	-40	c.39 others(51): Show c.3991_*4030delAGATGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAA	DPEP2NB	ENSG00000263201.1	transcript	ENST00000574912.1	protein_coding		3358		chr16	TogoVar
DPEP3_chr16_67970663_67985499	67984723	CAGGTGCC others(33): Show CAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	332	0.0030	-40	c.-43 others(51): Show c.-4383_-4344delCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAG GCACCT	DPEP3	ENSG00000141096.6	transcript	ENST00000268793.6	protein_coding		4225		chr16	TogoVar
DPF3_chr14_72604034_72899101	72892942	TGGAAGGA others(33): Show TGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0078 a0001c0001t0020g0078	1	234	0.0043	-40	c.32+ others(55): Show c.32+1075_32+1114delTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCC	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPP10_chr2_114437641_115850780	114497308	TACATGTA others(33): Show TACATGTACATGTATACGTGTATACATGTACATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02818.hp1 HG02922.hp2 others(2): Show HG02109.hp2 HG02818.hp1 HG02922.hp2 HG03098.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0001 a0003c0003 a0001c0004 a0002c0001 a0003c0003	a0001c0004t0007 a0002c0001t0002 a0003c0003t0003 a0001c0004t0007 a0002c0001t0002 a0003c0003t0003	a0001c0004t0007g0055 a0002c0001t0002g0037 a0002c0001t0002g0054 others(2): Show a0001c0004t0007g0055 a0002c0001t0002g0037 a0002c0001t0002g0054 a0003c0003t0003g0002 a0003c0003t0003g0049	5	56	0.0893	-40	c.60+ others(57): Show c.60+54481_60+54520delGTATACGTGTATACATGTACATATACAT ACACATGTACAT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP6_chr7_154047398_154899285	154431442	CTTTCTTT others(33): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02280.hp2 HG02486.hp1 others(9): Show HG01952.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03579.hp1 HG03579.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0010 a0001c0015 others(8): Show a0001c0003 a0001c0010 a0001c0015 a0001c0018 a0001c0021 a0002c0004 a0002c0008 a0002c0012 a0002c0014 a0002c0022 a0002c0023	a0001c0003t0008 a0001c0010t0010 a0001c0015t0017 others(9): Show a0001c0003t0008 a0001c0010t0010 a0001c0015t0017 a0001c0018t0009 a0001c0021t0011 a0002c0004t0004 a0002c0004t0006 a0002c0008t0012 a0002c0012t0021 a0002c0014t0025 a0002c0022t0023 a0002c0023t0014	a0001c0003t0008g0025 a0001c0010t0010g0009 a0001c0015t0017g0036 others(9): Show a0001c0003t0008g0025 a0001c0010t0010g0009 a0001c0015t0017g0036 a0001c0018t0009g0023 a0001c0021t0011g0022 a0002c0004t0004g0008 a0002c0004t0006g0028 a0002c0008t0012g0001 a0002c0012t0021g0035 a0002c0014t0025g0029 a0002c0022t0023g0027 a0002c0023t0014g0017	12	38	0.3158	-40	c.244 others(59): Show c.244-14744_244-14705delTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP7_chr9_137105546_137119733	137114132	CCCCCGCC others(33): Show CCCCCGCCCGCGACCCCGCCCGGCACCCGCGTGCCCCGCGA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0001 a0000c0005t0001	a0000c0005t0001g0082 a0000c0005t0001g0082	1	454	0.0022	-40	c.321 others(54): Show c.321+71_322-105delTCGCGGGGCACGCGGGTGCCGGGCGGGGTCG CGGGCGGGG	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DPP7_chr9_137105546_137119733	137114173	CCCCCGCC others(33): Show CCCCCGCCCGCGACCCCGCCCGGCACCCACGTGCCCCGCGA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG02717.hp2 others(12): Show HG01243.hp2 HG02109.hp1 HG02717.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03540.hp1 HG03704.hp2 HG04204.hp2 HG06807.hp1 NA19003.hp1	a0000 a0001 a0000 a0001	a0000c0005 a0001c0001 a0001c0003 a0000c0005 a0001c0001 a0001c0003	a0000c0005t0001 a0001c0001t0001 a0001c0003t0001 a0000c0005t0001 a0001c0001t0001 a0001c0003t0001	a0000c0005t0001g0010 a0000c0005t0001g0081 a0001c0001t0001g0032 others(4): Show a0000c0005t0001g0010 a0000c0005t0001g0081 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0112 a0001c0003t0001g0052 a0001c0003t0001g0056	15	454	0.0330	-40	c.321 others(53): Show c.321+30_321+69delTCGCGGGGCACGTGGGTGCCGGGCGGGGTCGC GGGCGGGG	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DPY19L1_chr7_34923881_35042485	35040265	TTCATTTT others(33): Show TTCATTTTATCCTTAGTACAACGAGATCCACAAGAGCAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0069 a0001c0001t0010g0069	1	328	0.0031	-40	c.-29 others(51): Show c.-2911_-2872delCTCTGCTCTTGTGGATCTCGTTGTACTAAGGATA AAATGA	DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding		2781		chr7	TogoVar
DPYD_chr1_97072743_97926034	97134012	AAAATATA others(33): Show AAAATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02165.hp1 HG02717.hp1 others(3): Show HG02132.hp1 HG02165.hp1 HG02717.hp1 HG03195.hp2 HG03491.hp2 NA18906.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0003 a0002c0002t0003 a0003c0003t0001 others(1): Show a0001c0001t0003 a0002c0002t0003 a0003c0003t0001 a0004c0004t0002	a0001c0001t0003g0025 a0001c0001t0003g0028 a0002c0002t0003g0018 others(3): Show a0001c0001t0003g0025 a0001c0001t0003g0028 a0002c0002t0003g0018 a0002c0002t0003g0048 a0003c0003t0001g0052 a0004c0004t0002g0027	6	52	0.1154	-40	c.262 others(61): Show c.2623-35420_2623-35381delATATATATATATATATATATATAT ATATATATATATATTT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97195634	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02976.hp1 HG03579.hp1 others(2): Show HG02717.hp2 HG02976.hp1 HG03579.hp1 NA18906.hp1 NA20300.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0002c0010 a0005c0006 a0002c0002 a0002c0010 a0005c0006	a0002c0002t0001 a0002c0002t0002 a0002c0010t0002 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0010t0002 a0005c0006t0001	a0002c0002t0001g0008 a0002c0002t0001g0047 a0002c0002t0002g0010 others(2): Show a0002c0002t0001g0008 a0002c0002t0001g0047 a0002c0002t0002g0010 a0002c0010t0002g0012 a0005c0006t0001g0036	5	52	0.0962	-40	c.244 others(59): Show c.2443-2426_2443-2387delTATATATATATATATATATATATATA TATATATATATATA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	19/22			chr1	TogoVar
DPYSL2_chr8_26509031_26663175	26568703	AGATGAAA others(33): Show AGATGAAAACTCCTGAAATGTTATTTACACTTTCAGAGTTC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp1 others(104): Show HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01175.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02129.hp1 HG02145.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18943.hp2 NA18948.hp2 NA18954.hp1 NA18955.hp1 NA18960.hp1 NA18963.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19007.hp2 NA19010.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0013 a0001c0017 a0001c0018 a0001c0020 a0003c0009 a0003c0014 a0004c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(26): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0035 a0001c0001t0036 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0003t0001 a0001c0003t0009 a0001c0003t0020 a0001c0010t0001 a0001c0013t0004 a0001c0017t0018 a0001c0018t0014 a0001c0020t0018 a0003c0009t0005 a0003c0014t0022 a0004c0012t0001	a0001c0001t0002g0072 a0001c0001t0002g0104 a0001c0001t0002g0114 others(104): Show a0001c0001t0002g0072 a0001c0001t0002g0104 a0001c0001t0002g0114 a0001c0001t0002g0128 a0001c0001t0002g0132 a0001c0001t0002g0138 a0001c0001t0002g0143 a0001c0001t0002g0168 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0003g0106 a0001c0001t0003g0117 a0001c0001t0003g0130 a0001c0001t0003g0142 a0001c0001t0003g0211 a0001c0001t0003g0224 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0005g0135 a0001c0001t0005g0136 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0007g0149 a0001c0001t0007g0205 a0001c0001t0008g0120 a0001c0001t0008g0207 a0001c0001t0008g0208 a0001c0001t0008g0215 a0001c0001t0010g0071 a0001c0001t0010g0308 a0001c0001t0014g0005 a0001c0001t0014g0192 a0001c0001t0016g0107 a0001c0001t0016g0108 a0001c0001t0016g0141 a0001c0001t0017g0134 a0001c0001t0017g0202 a0001c0001t0035g0286 a0001c0001t0036g0206 a0001c0002t0001g0093 a0001c0002t0001g0100 a0001c0002t0001g0103 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0137 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0169 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0004g0089 a0001c0002t0004g0094 a0001c0002t0004g0096 a0001c0002t0004g0097 a0001c0002t0004g0098 a0001c0002t0004g0110 a0001c0002t0004g0116 a0001c0002t0004g0118 a0001c0002t0004g0119 a0001c0002t0004g0173 a0001c0002t0004g0174 a0001c0002t0004g0175 a0001c0002t0004g0181 a0001c0002t0005g0079 a0001c0002t0005g0087 a0001c0002t0006g0127 a0001c0002t0006g0140 a0001c0002t0006g0191 a0001c0002t0009g0176 a0001c0002t0010g0095 a0001c0002t0010g0115 a0001c0003t0001g0287 a0001c0003t0009g0109 a0001c0003t0009g0124 a0001c0003t0009g0125 a0001c0003t0009g0291 a0001c0003t0020g0133 a0001c0003t0020g0146 a0001c0010t0001g0170 a0001c0010t0001g0171 a0001c0010t0001g0172 a0001c0013t0004g0099 a0001c0017t0018g0144 a0001c0018t0014g0123 a0001c0020t0018g0105 a0003c0009t0005g0006 a0003c0009t0005g0007 a0003c0009t0005g0008 a0003c0014t0022g0312 a0004c0012t0001g0101 a0004c0012t0001g0102	107	316	0.3386	-40	c.355 others(59): Show c.355-13265_355-13226delGATGAAAACTCCTGAAATGTTATTTA CACTTTCAGAGTTC	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DPYSL4_chr10_132181948_132210759	132187344	CTGCCCGG others(33): Show CTGCCCGGCCCTGCCGGGCCCTGCCGGGCCCTGCCCGGCCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03453.hp1 HG02630.hp2 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0008 a0001c0004t0003 a0001c0004t0008	a0001c0004t0003g0100 a0001c0004t0008g0101 a0001c0004t0003g0100 a0001c0004t0008g0101	2	418	0.0048	-40	c.39+ others(53): Show c.39+252_39+291delCTGCCGGGCCCTGCCGGGCCCTGCCCGGCCTT GCCCGGCC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
DRC7_chr16_57689806_57736805	57705773	TCCATCCA others(33): Show TCCATCCATCCTCCCATCCATCCATCCTCCCATTTCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01099.hp2 HG01928.hp2 others(20): Show HG00733.hp2 HG01099.hp2 HG01928.hp2 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02056.hp1 HG02155.hp2 HG02273.hp1 HG02300.hp1 HG03017.hp1 NA18747.hp2 NA18941.hp1 NA18945.hp1 NA18955.hp1 NA18965.hp2 NA18968.hp2 NA18999.hp1 NA19004.hp2 NA19009.hp2 NA19079.hp2 NA19084.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0037 a0001c0001 a0013c0037	a0001c0001t0001 a0013c0037t0001 a0001c0001t0001 a0013c0037t0001	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0087 others(15): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0157 a0001c0001t0001g0198 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0013c0037t0001g0089	23	388	0.0593	-40	c.858 others(55): Show c.858+772_858+811delTTCTCCTCCCATCCATCCTCCCATCCATCC ATCCTCCCAT	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
DSTN_chr20_17565075_17614919	17567917	TAGGGGGG others(33): Show TAGGGGGGTGAAGGAGTTGTAAGGGGTACGGGGCACGAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	348	0.0029	-40	c.-22 others(51): Show c.-2291_-2252delAGGGGGGTGAAGGAGTTGTAAGGGGTACGGGGCA CGAAAA	DSTN	ENSG00000125868.16	transcript	ENST00000246069.12	protein_coding		2157		chr20	TogoVar
DTHD1_chr4_36276616_36352511	36332187	AAAAATAA others(33): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01433.hp2 HG03195.hp2 others(2): Show HG00741.hp1 HG01433.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0001c0004 a0006c0010 a0001c0002 a0001c0004 a0006c0010	a0001c0002t0018 a0001c0004t0004 a0006c0010t0004 a0001c0002t0018 a0001c0004t0004 a0006c0010t0004	a0001c0002t0018g0066 a0001c0002t0018g0200 a0001c0002t0018g0201 others(2): Show a0001c0002t0018g0066 a0001c0002t0018g0200 a0001c0002t0018g0201 a0001c0004t0004g0025 a0006c0010t0004g0028	5	308	0.0162	-40	c.234 others(59): Show c.2341-6892_2341-6853delAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAA	DTHD1	ENSG00000197057.10	transcript	ENST00000639862.2	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
DTYMK_chr2_241670747_241691815	241689950	TCCAGAGG others(33): Show TCCAGAGGATGAAGGGGATTGTAGGAAGGAAGACCACCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	420	0.0024	-40	c.-32 others(51): Show c.-3207_-3168delGAAGGTGGTCTTCCTTCCTACAATCCCCTTCATC CTCTGG	DTYMK	ENSG00000168393.13	transcript	ENST00000305784.7	protein_coding		3136		chr2	TogoVar
DUSP16_chr12_12468282_12567863	12565914	TGGAAGTG others(33): Show TGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0157 a0001c0001t0059g0157	1	352	0.0028	-40	c.-42 others(51): Show c.-4203_-4164delTAGATGGGATGGCGGCCGGGCAGAGACGCTCCTC ACTTCC	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding		3052		chr12	TogoVar
DUSP16_chr12_12468282_12567863	12565941	CGCCATCC others(33): Show CGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCCGGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	352	0.0028	-40	c.-42 others(51): Show c.-4230_-4191delAGCCGGGAAGAGGCGCTCCTCACTTCCTAGATGG GATGGC	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding		3079		chr12	TogoVar
DUSP16_chr12_12468282_12567863	12566120	ACCCTCCG others(33): Show ACCCTCCGCCCGGCAGCCGCCCCGTCTGCGAAGTGAGGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0342 a0001c0001t0021g0342	1	352	0.0028	-40	c.-44 others(51): Show c.-4409_-4370delGCTCCTCACTTCGCAGACGGGGCGGCTGCCGGGC GGAGGG	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding		3258		chr12	TogoVar
DUSP16_chr12_12468282_12567863	12566162	CCTCCGCC others(33): Show CCTCCGCCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02976.hp2 HG03130.hp2 others(1): Show HG02886.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0006 a0001c0001 a0002c0003 a0004c0006	a0001c0001t0001 a0002c0003t0004 a0004c0006t0042 a0001c0001t0001 a0002c0003t0004 a0004c0006t0042	a0001c0001t0001g0182 a0001c0001t0001g0183 a0002c0003t0004g0268 others(1): Show a0001c0001t0001g0182 a0001c0001t0001g0183 a0002c0003t0004g0268 a0004c0006t0042g0264	4	352	0.0114	-40	c.-44 others(51): Show c.-4451_-4412delACGCTCCTCACTTCCCAGACGGGGTGGCTGCCGG GCGGAG	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding		3300		chr12	TogoVar
DUSP29_chr10_75032472_75078642	75070070	AAAGGAAG others(33): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0248 a0002c0008t0001g0248	1	368	0.0027	-40	c.-35 others(57): Show c.-35+3459_-35+3498delCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTT	DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding	1/3			chr10	TogoVar
DUSP7_chr3_52043919_52061571	52045855	CTGTGTGT others(33): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	-40	c.49 others(51): Show c.4920_*4959delCACACACACACACACACACACACACACACACACA CACACA	DUSP7	ENSG00000164086.10	transcript	ENST00000495880.2	protein_coding		3063		chr3	TogoVar
DVL1_chr1_1330278_1354418	1349974	TGGGAGGA others(33): Show TGGGAGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01496.hp2 HG02165.hp1 others(2): Show HG00738.hp1 HG01496.hp2 HG02165.hp1 HG03209.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0020 a0001c0001 a0001c0016 a0001c0020	a0001c0001t0001 a0001c0001t0003 a0001c0016t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0016t0001 a0001c0020t0001	a0001c0001t0001g0143 a0001c0001t0003g0015 a0001c0001t0003g0069 others(2): Show a0001c0001t0001g0143 a0001c0001t0003g0015 a0001c0001t0003g0069 a0001c0016t0001g0142 a0001c0020t0001g0101	5	344	0.0145	-40	c.-94 others(49): Show c.-949_-910delGTCGCTCCTGCCCCGTCCAGGCCCCCTCCTCACTCC TCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		557		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350326	AGGAGCGA others(33): Show AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01261.hp1 HG04184.hp1 HG01192.hp1 HG01261.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074	3	344	0.0087	-40	c.-13 others(51): Show c.-1301_-1262delAGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGT CGCTCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		909		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350361	GGGGCTGG others(33): Show GGGGCTGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	344	0.0029	-40	c.-13 others(51): Show c.-1336_-1297delGGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTC CAGCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		944		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350441	CGGGCAGG others(33): Show CGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0008 a0001c0017t0008	a0001c0017t0008g0071 a0001c0017t0008g0071	1	344	0.0029	-40	c.-14 others(51): Show c.-1416_-1377delCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTC CTGCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1024		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350801	CGGGCAGG others(33): Show CGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0008 a0001c0017t0008	a0001c0017t0008g0071 a0001c0017t0008g0071	1	344	0.0029	-40	c.-17 others(51): Show c.-1776_-1737delCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTC CTGCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1384		chr1	TogoVar
DVL1_chr1_1330278_1354418	1351126	AGGAGCGA others(33): Show AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	344	0.0029	-40	c.-21 others(51): Show c.-2101_-2062delAGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGT CGCTCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1709		chr1	TogoVar
DVL1_chr1_1330278_1354418	1351166	TGGAGCGA others(33): Show TGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	344	0.0029	-40	c.-21 others(51): Show c.-2141_-2102delTGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGT CGCTCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1749		chr1	TogoVar
DYM_chr18_49031387_49465645	49202786	CCTCCGCC others(33): Show CCTCCGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	290	0.0035	-40	c.162 others(59): Show c.1625+6725_1625+6764delAGGCTCCTCACTTCTCAGACGGGGCA GCTGCCGGGCGGAG	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	14/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49393091	GGGAAGGA others(33): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0244 a0001c0001t0011g0244	1	290	0.0035	-40	c.141 others(57): Show c.141-1486_141-1447delTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	2/17			chr18	TogoVar
DYRK4_chr12_4557208_4618875	4600124	CTAGAAGT others(33): Show CTAGAAGTCTGCGCTTCAGAAACCACAGTCATTCTGAAGTT	C C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0369 a0001c0002t0001g0369	1	414	0.0024	-40	c.112 others(57): Show c.1126+338_1126+377delAGAAGTCTGCGCTTCAGAAACCACAGTC ATTCTGAAGTTT	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
DYSF_chr2_71448561_71691763	71543202	ACGCTCCT others(33): Show ACGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00642.hp2 others(63): Show HG00140.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01175.hp2 HG01433.hp1 HG01884.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18946.hp2 NA18947.hp1 NA18952.hp1 NA18962.hp1 NA18971.hp2 NA19009.hp1 NA19064.hp2 NA19068.hp2 NA19085.hp2 NA19088.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0013 a0016 a0017 a0023 a0024 a0025	a0001c0001 a0001c0003 a0001c0004 others(26): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0018 a0001c0019 a0001c0020 a0001c0030 a0001c0037 a0001c0038 a0001c0041 a0001c0047 a0003c0042 a0003c0043 a0004c0008 a0013c0035 a0016c0036 a0017c0039 a0023c0032 a0024c0029 a0025c0065	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(32): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0007t0001 a0001c0009t0001 a0001c0009t0002 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0001c0014t0001 a0001c0015t0001 a0001c0018t0001 a0001c0019t0002 a0001c0020t0001 a0001c0030t0001 a0001c0037t0001 a0001c0038t0001 a0001c0041t0002 a0001c0047t0002 a0003c0042t0001 a0003c0043t0001 a0004c0008t0001 a0013c0035t0001 a0016c0036t0001 a0017c0039t0001 a0023c0032t0001 a0024c0029t0001 a0025c0065t0001	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 others(63): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0175 a0001c0003t0001g0066 a0001c0003t0001g0076 a0001c0003t0001g0091 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0121 a0001c0003t0001g0123 a0001c0003t0001g0131 a0001c0003t0001g0157 a0001c0004t0001g0062 a0001c0004t0002g0020 a0001c0004t0002g0023 a0001c0004t0002g0024 a0001c0004t0003g0065 a0001c0004t0003g0084 a0001c0005t0001g0029 a0001c0005t0001g0136 a0001c0005t0001g0140 a0001c0005t0002g0146 a0001c0005t0002g0152 a0001c0006t0001g0070 a0001c0006t0001g0138 a0001c0006t0002g0153 a0001c0006t0002g0170 a0001c0006t0003g0007 a0001c0007t0001g0184 a0001c0009t0001g0053 a0001c0009t0001g0103 a0001c0009t0002g0025 a0001c0011t0001g0075 a0001c0011t0001g0171 a0001c0012t0001g0071 a0001c0012t0001g0127 a0001c0013t0001g0083 a0001c0014t0001g0109 a0001c0014t0001g0169 a0001c0015t0001g0003 a0001c0015t0001g0027 a0001c0018t0001g0137 a0001c0019t0002g0165 a0001c0020t0001g0080 a0001c0020t0001g0085 a0001c0030t0001g0081 a0001c0037t0001g0129 a0001c0038t0001g0061 a0001c0041t0002g0144 a0001c0047t0002g0183 a0003c0042t0001g0067 a0003c0043t0001g0030 a0004c0008t0001g0011 a0013c0035t0001g0051 a0016c0036t0001g0118 a0017c0039t0001g0068 a0023c0032t0001g0191 a0024c0029t0001g0104 a0025c0065t0001g0002	66	192	0.3438	-40	c.148 others(59): Show c.1480+3974_1480+4013delCTCCCAGACGGGGTCGCGGCCGGGCA GAGGCGCTCCTCAC	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	16/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71571470	GCACACAC others(33): Show GCACACACACATCACACCCAGCACGCACAGATCACACCCAC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0091 a0001c0003t0001g0091	1	192	0.0052	-40	c.317 others(57): Show c.3174+738_3174+777delCATCACACCCAGCACGCACAGATCACAC CCACCACACACA	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	29/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71543202	ACGCTCCT others(33): Show ACGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00642.hp2 others(72): Show HG00140.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01261.hp2 HG01433.hp1 HG01884.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18962.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA19010.hp2 NA19064.hp2 NA19068.hp2 NA19085.hp1 NA19088.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0005 a0017 a0018 a0025 a0026 a0028	a0001c0001 a0001c0003 a0001c0004 others(27): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0019 a0001c0020 a0001c0031 a0001c0039 a0001c0040 a0001c0042 a0001c0048 a0001c0061 a0003c0043 a0003c0044 a0004c0011 a0005c0034 a0005c0035 a0017c0038 a0018c0041 a0025c0033 a0026c0030 a0028c0068	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0007t0002 a0001c0008t0001 a0001c0008t0002 a0001c0009t0001 a0001c0009t0008 a0001c0012t0001 a0001c0013t0001 a0001c0014t0001 a0001c0014t0002 a0001c0015t0001 a0001c0019t0002 a0001c0020t0001 a0001c0031t0001 a0001c0039t0001 a0001c0040t0001 a0001c0042t0001 a0001c0048t0002 a0001c0061t0002 a0003c0043t0001 a0003c0044t0001 a0004c0011t0001 a0005c0034t0002 a0005c0035t0001 a0017c0038t0001 a0018c0041t0001 a0025c0033t0002 a0026c0030t0001 a0028c0068t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 others(72): Show a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0002g0183 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0010 a0001c0003t0001g0011 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0039 a0001c0003t0001g0043 a0001c0003t0001g0047 a0001c0003t0001g0055 a0001c0003t0001g0065 a0001c0003t0001g0076 a0001c0003t0001g0098 a0001c0003t0001g0114 a0001c0003t0001g0127 a0001c0003t0002g0161 a0001c0004t0001g0025 a0001c0004t0001g0030 a0001c0004t0001g0031 a0001c0004t0001g0032 a0001c0004t0001g0080 a0001c0004t0003g0112 a0001c0004t0003g0113 a0001c0004t0003g0134 a0001c0005t0001g0062 a0001c0005t0001g0070 a0001c0005t0001g0074 a0001c0005t0001g0092 a0001c0005t0001g0143 a0001c0005t0002g0177 a0001c0006t0001g0072 a0001c0006t0001g0121 a0001c0006t0002g0151 a0001c0006t0002g0176 a0001c0006t0003g0204 a0001c0007t0002g0189 a0001c0008t0001g0109 a0001c0008t0001g0126 a0001c0008t0002g0157 a0001c0008t0002g0178 a0001c0009t0001g0053 a0001c0009t0001g0064 a0001c0009t0008g0196 a0001c0012t0001g0033 a0001c0012t0001g0147 a0001c0012t0001g0208 a0001c0013t0001g0057 a0001c0014t0001g0004 a0001c0014t0002g0175 a0001c0015t0001g0034 a0001c0015t0001g0207 a0001c0019t0002g0171 a0001c0020t0001g0131 a0001c0020t0001g0132 a0001c0031t0001g0120 a0001c0039t0001g0061 a0001c0040t0001g0096 a0001c0042t0001g0141 a0001c0048t0002g0190 a0001c0061t0002g0001 a0003c0043t0001g0116 a0003c0044t0001g0023 a0004c0011t0001g0103 a0005c0034t0002g0153 a0005c0035t0001g0122 a0017c0038t0001g0015 a0018c0041t0001g0118 a0025c0033t0002g0152 a0026c0030t0001g0016 a0028c0068t0001g0202	75	208	0.3606	-40	c.157 others(59): Show c.1576+3974_1576+4013delCTCCCAGACGGGGTCGCGGCCGGGCA GAGGCGCTCCTCAC	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	17/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71571470	GCACACAC others(33): Show GCACACACACATCACACCCAGCACGCACAGATCACACCCAC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0043 a0001c0003t0001g0043	1	208	0.0048	-40	c.322 others(57): Show c.3228+738_3228+777delCATCACACCCAGCACGCACAGATCACAC CCACCACACACA	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	29/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
E2F2_chr1_23501438_23536233	23504022	CCTCCGCC others(33): Show CCTCCGCCCGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	1	396	0.0025	-40	c.58 others(51): Show c.5818_*5857delAGGCTCCTCACTTCTCAGACGGGGCGGTTGCCGG GCGGAG	E2F2	ENSG00000007968.7	transcript	ENST00000361729.3	protein_coding		2415		chr1	TogoVar
E2F2_chr1_23501438_23536233	23504035	ACCGCCCC others(33): Show ACCGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0199 a0002c0002t0001g0199	1	396	0.0025	-40	c.58 others(51): Show c.5805_*5844delCTGCCGGGCGGAGAGGCTCCTCACTTCTCAGACG GGGCGG	E2F2	ENSG00000007968.7	transcript	ENST00000361729.3	protein_coding		2402		chr1	TogoVar

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