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
CUX1_chr7_101811007_102288958	101939053	AAATACAT others(32): Show AAATACATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp1 HG03471.hp1 others(1): Show HG02615.hp2 HG03130.hp1 HG03471.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0010 a0001c0002t0001 a0002c0003t0001 a0001c0001t0010 a0001c0002t0001 a0002c0003t0001	a0001c0001t0010g0131 a0001c0002t0001g0001 a0002c0003t0001g0003 others(1): Show a0001c0001t0010g0131 a0001c0002t0001g0001 a0002c0003t0001g0003 a0002c0003t0001g0004	4	132	0.0303	-39	c.174 others(58): Show c.174+22830_174+22868delATACATATATATATATATATATATAT ATATATATATATA	CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101812626_102263233	101939053	AAATACAT others(32): Show AAATACATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp1 HG03471.hp1 others(1): Show HG02615.hp2 HG03130.hp1 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0001t0019 a0001c0003t0004 a0001c0001t0011 a0001c0001t0019 a0001c0003t0004	a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0019g0001 others(1): Show a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0019g0001 a0001c0003t0004g0038	4	136	0.0294	-39	c.141 others(58): Show c.141+22830_141+22868delATACATATATATATATATATATATAT ATATATATATATA	CUX1	ENSG00000257923.12	transcript	ENST00000292535.12	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CYBRD1_chr2_171517474_171563129	171558384	TCATATAT others(32): Show TCATATATTTATATATAATATTTACTATTAATATCATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02280.hp1 others(22): Show HG01891.hp1 HG02055.hp2 HG02280.hp1 HG02572.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0016 a0001c0003t0004 a0001c0006t0004	a0001c0001t0004g0250 a0001c0001t0006g0010 a0001c0001t0006g0023 others(18): Show a0001c0001t0004g0250 a0001c0001t0006g0010 a0001c0001t0006g0023 a0001c0001t0006g0038 a0001c0001t0006g0047 a0001c0001t0006g0065 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0006g0116 a0001c0001t0006g0120 a0001c0001t0006g0139 a0001c0001t0006g0151 a0001c0001t0006g0249 a0001c0001t0013g0044 a0001c0001t0013g0046 a0001c0001t0013g0287 a0001c0001t0016g0243 a0001c0001t0016g0246 a0001c0003t0004g0298 a0001c0003t0004g0299 a0001c0006t0004g0242	25	394	0.0635	-39	c.35 others(50): Show c.3558_*3596delCATATATTTATATATAATATTTACTATTAATATC ATATA	CYBRD1	ENSG00000071967.12	transcript	ENST00000321348.9	protein_coding		256		chr2	TogoVar
CYLC2_chr9_102990333_103023488	103009906	TACATATA others(32): Show TACATATATGTGTATATACACACATATATGTATTATACAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0014 a0014	a0014c0009 a0014c0009	a0014c0009t0001 a0014c0009t0001	a0014c0009t0001g0124 a0014c0009t0001g0124	1	448	0.0022	-39	c.70 others(58): Show c.701-2070_*701-2032delTATGTGTATATACACACATATATGTA TTATACACACATA	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CYLC2_chr9_102990333_103023488	103013322	TATATATA others(32): Show TATATATATTTAATATATTATATAAATATATATTATATAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02976.hp1 HG03098.hp2 others(1): Show HG01109.hp2 HG02976.hp1 HG03098.hp2 HG03195.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0034 a0003c0003t0045 a0003c0003t0046 a0003c0003t0034 a0003c0003t0045 a0003c0003t0046	a0003c0003t0034g0202 a0003c0003t0034g0203 a0003c0003t0045g0200 others(1): Show a0003c0003t0034g0202 a0003c0003t0034g0203 a0003c0003t0045g0200 a0003c0003t0046g0201	4	448	0.0089	-39	c.81 others(58): Show c.816+1283_*816+1321delATATAAATATATATTATATAAATATA TATTTAATATATT	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CYP2W1_chr7_978181_994640	989952	CGTGGTCG others(32): Show CGTGGTCGGCAGTGTGAGTGGCGCGTGTGCTGGGGGCGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp2 HG02683.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	2	408	0.0049	-39	c.11 others(50): Show c.1131_*1169delGTGGTCGGCAGTGTGAGTGGCGCGTGTGCTGGGG GCGGT	CYP2W1	ENSG00000073067.14	transcript	ENST00000308919.12	protein_coding		313		chr7	TogoVar
CYP3A43_chr7_99823013_99871093	99867232	AAAGCAAC others(32): Show AAAGCAACAATAATCTTTTTGTCATCTTCATTGGAGCTCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	326	0.0031	-39	c.12 others(50): Show c.1232_*1270delAAGCAACAATAATCTTTTTGTCATCTTCATTGGA GCTCT	CYP3A43	ENSG00000021461.18	transcript	ENST00000354829.7	protein_coding		1140		chr7	TogoVar
CYP46A1_chr14_99679298_99732301	99697280	CAGCTTCT others(32): Show CAGCTTCTCCCTGGTACTTTGTTCTGCTCTTTCTATGCAT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03195.hp1 HG02818.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0107 a0001c0001t0001g0114	2	374	0.0054	-39	c.283 others(56): Show c.283-2125_283-2087delTCTGCTCTTTCTATGCATAGCTTCTCCC TGGTACTTTGT	CYP46A1	ENSG00000036530.9	transcript	ENST00000261835.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
D2HGDH_chr2_241729630_241773811	241755684	TGGGGTTG others(32): Show TGGGGTTGGAGCCACACCTGGTCTGGGGCATTTGCTGTCC	T T	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19090.hp1 NA19064.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0110 a0001c0001t0004g0107 a0001c0001t0004g0110	2	412	0.0049	-39	c.114 others(56): Show c.1141-159_1141-121delTGGAGCCACACCTGGTCTGGGGCATTTG CTGTCCGGGGT	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241755697	ACACCTGG others(32): Show ACACCTGGTCTGGGGCATTTGCTGTCCGGGGTCGGAGCCT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG01346.hp2 others(13): Show HG00621.hp2 HG00673.hp2 HG01346.hp2 HG02056.hp1 HG02155.hp2 HG02165.hp2 HG02523.hp1 NA18612.hp1 NA18747.hp2 NA18942.hp2 NA18951.hp1 NA18962.hp2 NA18969.hp1 NA18975.hp1 NA19000.hp1 NA19067.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0017	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0004 a0017c0028	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0018 a0002c0002t0001 a0002c0002t0003 a0003c0003t0024 a0005c0004t0002 a0017c0028t0004	a0001c0001t0002g0108 a0001c0001t0002g0113 a0001c0001t0002g0115 others(12): Show a0001c0001t0002g0108 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0003g0268 a0001c0001t0006g0242 a0001c0001t0006g0271 a0001c0001t0018g0272 a0002c0002t0001g0194 a0002c0002t0003g0265 a0003c0003t0024g0321 a0005c0004t0002g0026 a0005c0004t0002g0345 a0005c0004t0002g0346 a0017c0028t0004g0109	16	412	0.0388	-39	c.114 others(56): Show c.1141-143_1141-105delCTGGGGCATTTGCTGTCCGGGGTCGGAG CCTCACCTGGT	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DACT2_chr6_168301904_168324777	168321862	TCTCCTTC others(32): Show TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0042 a0002c0002t0004g0042	2	476	0.0042	-39	c.-22 others(50): Show c.-2268_-2230delGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAG	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding		2086		chr6	TogoVar
DCAF15_chr19_13947509_13966449	13949144	GAGACAGC others(32): Show GAGACAGCATTTCACCATGTTGACCAGGCTTGTCTTGAAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	400	0.0025	-39	c.-33 others(50): Show c.-3368_-3330delAGACAGCATTTCACCATGTTGACCAGGCTTGTCT TGAAC	DCAF15	ENSG00000132017.11	transcript	ENST00000254337.11	protein_coding		3364		chr19	TogoVar
DCP1A_chr3_53278429_53352543	53331399	ATAATACC others(32): Show ATAATACCACATTTTCACTGTACGTTTTCTCTTAAGATGT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0286 a0001c0001t0006g0286	1	366	0.0027	-39	c.304 others(58): Show c.304+10706_304+10744delACATCTTAAGAGAAAACGTACAGTGA AAATGTGGTATTA	DCP1A	ENSG00000272886.6	transcript	ENST00000610213.6	protein_coding	3/9			chr3	TogoVar
DCT_chr13_94431811_94484682	94472534	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0280 a0001c0001t0029g0280	1	336	0.0030	-39	c.296 others(56): Show c.296-3528_296-3490delAAAAATATATATATATATATATATATAT ATATATATATA	DCT	ENSG00000080166.16	transcript	ENST00000377028.10	protein_coding	1/7			chr13	TogoVar
DCT_chr13_94431811_94484682	94472538	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0012 a0001c0001t0008g0012	1	336	0.0030	-39	c.296 others(56): Show c.296-3532_296-3494delAAAAAAAAATATATATATATATATATAT ATATATATATA	DCT	ENSG00000080166.16	transcript	ENST00000377028.10	protein_coding	1/7			chr13	TogoVar
DECR2_chr16_396885_417482	398566	ACTGAGCT others(32): Show ACTGAGCTGGGCTGTGCCTCTGTGGACCTCAGGGTGGTCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	367	0.0027	-39	c.-33 others(50): Show c.-3397_-3359delCTGAGCTGGGCTGTGCCTCTGTGGACCTCAGGGT GGTCG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		3318		chr16	TogoVar
DEFA1_chr8_6972649_6985092	6974224	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0046 a0002c0002t0002g0046	1	408	0.0025	-39	c.35 others(50): Show c.3507_*3545delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAA	DEFA1	ENSG00000206047.4	transcript	ENST00000382692.3	protein_coding		3424		chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313749	TCCCCGCC others(32): Show TCCCCGCCCCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0030 a0001c0001t0027g0030	1	370	0.0027	-39	c.27 others(50): Show c.2766_*2804delCGGGGAGGCGGGGCGGGGAGGCGGGGAGGCGGGG CGGGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		834		chr8	TogoVar
DGKB_chr7_14140049_14907751	14567379	ATATATTA others(32): Show ATATATTATATATATAATTATATTATATATATTATATATT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02109.hp1 HG02145.hp1 others(9): Show HG00639.hp1 HG02109.hp1 HG02145.hp1 HG02165.hp1 HG02258.hp2 HG02723.hp2 HG02922.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp2 NA18968.hp2 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0003c0010	a0001c0001t0003 a0001c0001t0020 a0001c0002t0003 others(6): Show a0001c0001t0003 a0001c0001t0020 a0001c0002t0003 a0001c0002t0030 a0001c0003t0002 a0001c0003t0005 a0001c0003t0036 a0002c0005t0011 a0003c0010t0033	a0001c0001t0003g0051 a0001c0001t0020g0097 a0001c0002t0003g0001 others(9): Show a0001c0001t0003g0051 a0001c0001t0020g0097 a0001c0002t0003g0001 a0001c0002t0003g0003 a0001c0002t0003g0069 a0001c0002t0030g0092 a0001c0003t0002g0028 a0001c0003t0005g0016 a0001c0003t0005g0130 a0001c0003t0036g0050 a0002c0005t0011g0062 a0003c0010t0033g0007	12	148	0.0811	-39	c.177 others(58): Show c.1770+6794_1770+6832delAATATATAATATATATAATATAATTA TATATATAATATA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	20/25			chr7	TogoVar
DGKQ_chr4_953887_978569	972534	TCCTGTCC others(32): Show TCCTGTCCCTCGCTCCCTCCAGAGGCTGGGCTGTGGTCCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp2 HG02258.hp2 others(6): Show HG01891.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02723.hp1 HG02976.hp2 HG03130.hp2 HG03453.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0007 a0001c0005t0001 a0001c0002t0007 a0001c0005t0001	a0001c0002t0007g0009 a0001c0005t0001g0065 a0001c0002t0007g0009 a0001c0005t0001g0065	9	438	0.0206	-39	c.271 others(54): Show c.271+639_271+677delGGGACCACAGCCCAGCCTCTGGAGGGAGCG AGGGACAGG	DGKQ	ENSG00000145214.14	transcript	ENST00000273814.8	protein_coding	1/22			chr4	TogoVar
DHRS11_chr17_36586879_36605804	36605141	AAAAAAAA others(32): Show AAAAAAAAAAAAAAGAGAGAGAGAGAGAGAGAGAGATGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	385	0.0026	-39	c.49 others(50): Show c.4939_*4977delAAAAAAAAAAAAAGAGAGAGAGAGAGAGAGAGAG ATGGG	DHRS11	ENSG00000278535.5	transcript	ENST00000618403.5	protein_coding		4338		chr17	TogoVar
DHTKD1_chr10_12063954_12128221	12070609	GTTCCGAG others(32): Show GTTCCGAGTAGCTGGGATTACAGGCACCTGCCACCATGCC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0238 a0002c0002t0002g0238	1	374	0.0027	-39	c.154 others(56): Show c.154+1423_154+1461delTTCCGAGTAGCTGGGATTACAGGCACCT GCCACCATGCC	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding	1/16			chr10	TogoVar
DIO3_chr14_101556495_101568452	101567109	AGCTTGAG others(32): Show AGCTTGAGAAGAGCTTTAGGCACCAGCTTGCAACTCTGCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	386	0.0026	-39	c.46 others(50): Show c.4699_*4737delGCTTGAGAAGAGCTTTAGGCACCAGCTTGCAACT CTGCT	DIO3	ENSG00000197406.8	transcript	ENST00000510508.5	protein_coding		3658		chr14	TogoVar
DIO3_chr14_101556495_101568452	101567592	TGAGCTGG others(32): Show TGAGCTGGGCAAGGCATCATGGTCTGACCTGTGTTCCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	386	0.0026	-39	c.51 others(50): Show c.5182_*5220delGAGCTGGGCAAGGCATCATGGTCTGACCTGTGTT CCTCC	DIO3	ENSG00000197406.8	transcript	ENST00000510508.5	protein_coding		4141		chr14	TogoVar
DIP2A_chr21_46453891_46575015	46495215	TTCTCTTC others(32): Show TTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0023 a0002c0011t0023	a0002c0011t0023g0194 a0002c0011t0023g0194	1	374	0.0027	-39	c.284 others(56): Show c.284-1767_284-1729delTCTCTTCTCTTCTCTTCTCTTCTTTCTC TCTCTCTCTCT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2B_chr12_50499985_50753657	50579645	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp1 NA18906.hp2 others(1): Show HG02486.hp2 HG02922.hp1 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0006 a0001c0006t0009 a0001c0001t0006 a0001c0006t0009	a0001c0001t0006g0104 a0001c0006t0009g0192 a0001c0006t0009g0193 others(1): Show a0001c0001t0006g0104 a0001c0006t0009g0192 a0001c0006t0009g0193 a0001c0006t0009g0195	4	284	0.0141	-39	c.101 others(58): Show c.101-46330_101-46292delTATATATATATATATATATATATATA TATATATATATAT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37			chr12	TogoVar
DIS3_chr13_72747169_72786900	72786114	CATAGATG others(32): Show CATAGATGCTTGGTGTATACTAATAATAAACTTATTATTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0021 a0003c0003t0011g0021	1	422	0.0024	-39	c.-43 others(50): Show c.-4321_-4283delAAATAATAAGTTTATTATTAGTATACACCAAGCA TCTAT	DIS3	ENSG00000083520.15	transcript	ENST00000377767.9	protein_coding		4215		chr13	TogoVar
DLG2_chr11_83450173_85632344	83753819	TATTTCAT others(32): Show TATTTCATATATATATGATATATATCATATATATCATATA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	14	0.0714	-39	c.182 others(60): Show c.1825+32832_1825+32870delTATATGATATATATGATATATATC ATATATATATGAAAT	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	18/27			chr11	TogoVar
DLG2_chr11_83450173_85632344	85138779	CCTGCCAT others(32): Show CCTGCCATGATTCTAAGGCCTCCTCAGCCAAGTGGAACTA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	14	0.0714	-39	c.282 others(58): Show c.282+15738_282+15776delTAGTTCCACTTGGCTGAGGAGGCCTT AGAATCATGGCAG	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	5/27			chr11	TogoVar
DLGAP2_chr8_732628_1713476	747756	GGGGGTCT others(32): Show GGGGGTCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGAT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	-39	c.18+ others(54): Show c.18+9936_18+9974delTCTCTGCGGTGGGATGGGGGGCTCTGCGGT GGGATGGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	939683	AGGGGCTG others(32): Show AGGGGCTGGGGTGCCTGGGAGTGGGAGGTGCAGACACAGG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	40	0.0250	-39	c.73+ others(56): Show c.73+31759_73+31797delGGCTGGGGTGCCTGGGAGTGGGAGGTGC AGACACAGGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1074947	ATCTCACC others(32): Show ATCTCACCAACAAACAGTGCAGCAGGGAGTGGTGACCATG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA20300.hp2 HG03486.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0006 a0002c0001t0005 a0001c0002t0006 a0002c0001t0005	a0001c0002t0006g0011 a0002c0001t0005g0035 a0001c0002t0006g0011 a0002c0001t0005g0035	2	40	0.0500	-39	c.73+ others(58): Show c.73+167004_73+167042delAGGGAGTGGTGACCATGTCTCACCAA CAAACAGTGCAGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1338821	CTAAGGGA others(32): Show CTAAGGGAAGTGTCAGGACCTGGCAGGGAATGCAGTGACT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp2 HG01361.hp1 HG01496.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0005 a0002c0001 a0003c0005	a0002c0001t0001 a0003c0005t0004 a0002c0001t0001 a0003c0005t0004	a0002c0001t0001g0018 a0003c0005t0004g0037 a0002c0001t0001g0018 a0003c0005t0004g0037	2	40	0.0500	-39	c.106 others(58): Show c.106+79940_106+79978delAAGGGAAGTGTCAGGACCTGGCAGGG AATGCAGTGACTT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1562750	GGGGTGTC others(32): Show GGGGTGTCTGCGCCTCGTTACTGGGGGACTGTGTGGTGTT	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01361.hp1 HG01496.hp1 others(13): Show HG01071.hp2 HG01361.hp1 HG01496.hp1 HG02071.hp1 HG02074.hp1 HG02258.hp1 HG02647.hp2 HG02698.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG03486.hp1 HG03492.hp1 HG03710.hp1 NA18906.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0002c0004 a0002c0006 others(2): Show a0002c0001 a0002c0004 a0002c0006 a0002c0007 a0004c0008	a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 others(11): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0007 a0002c0001t0011 a0002c0001t0019 a0002c0001t0020 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026 a0002c0006t0021 a0002c0007t0008 a0004c0008t0016	a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0002g0032 others(13): Show a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0002g0032 a0002c0001t0003g0022 a0002c0001t0005g0028 a0002c0001t0005g0035 a0002c0001t0007g0038 a0002c0001t0011g0001 a0002c0001t0019g0030 a0002c0001t0020g0024 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016 a0002c0006t0021g0014 a0002c0007t0008g0040 a0004c0008t0016g0029	16	40	0.4000	-39	c.123 others(58): Show c.1231-2925_1231-2887delTGCGCCTCGTTACTGGGGGACTGTGT GGTGTTGGGTGTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1700381	GACGGGGC others(32): Show GACGGGGCAGGTCCCACTGTCTTTAGGAACAATGTGAATC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp2 HG01496.hp1 others(18): Show HG00639.hp2 HG01071.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG02071.hp2 HG02258.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02976.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03710.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0009 others(8): Show a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0002c0001 a0002c0004 a0002c0006 a0002c0007 a0003c0005	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(15): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0014 a0001c0003t0017 a0001c0009t0012 a0001c0010t0025 a0001c0011t0015 a0001c0012t0004 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0011 a0002c0001t0019 a0002c0004t0003 a0002c0006t0021 a0002c0007t0008 a0003c0005t0004	a0001c0002t0001g0015 a0001c0002t0002g0021 a0001c0003t0001g0026 others(18): Show a0001c0002t0001g0015 a0001c0002t0002g0021 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0014g0020 a0001c0003t0017g0004 a0001c0009t0012g0006 a0001c0010t0025g0012 a0001c0011t0015g0002 a0001c0012t0004g0036 a0002c0001t0002g0013 a0002c0001t0003g0017 a0002c0001t0003g0022 a0002c0001t0005g0028 a0002c0001t0005g0035 a0002c0001t0011g0001 a0002c0001t0019g0030 a0002c0004t0003g0009 a0002c0006t0021g0014 a0002c0007t0008g0040 a0003c0005t0004g0037	21	40	0.5250	-39	c.295 others(56): Show c.2950-767_2950-729delACGGGGCAGGTCCCACTGTCTTTAGGAA CAATGTGAATC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLL4_chr15_40924340_40944073	40941196	CCAGTGCC others(32): Show CCAGTGCCCTGCCTGGAGAATCAATTTGACCCCACGGTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	370	0.0027	-39	c.31 others(50): Show c.3163_*3201delCAGTGCCCTGCCTGGAGAATCAATTTGACCCCAC GGTGA	DLL4	ENSG00000128917.8	transcript	ENST00000249749.7	protein_coding		2124		chr15	TogoVar
DMPK_chr19_45764717_45787490	45770204	CCAGCAGC others(32): Show CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02896.hp1 HG02897.hp1 HG01884.hp1 HG02896.hp1 HG02897.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0022 a0004c0011t0019 a0001c0001t0022 a0004c0011t0019	a0001c0001t0022g0142 a0004c0011t0019g0070 a0004c0011t0019g0071 a0001c0001t0022g0142 a0004c0011t0019g0070 a0004c0011t0019g0071	3	416	0.0072	-39	c.24 others(48): Show c.245_*283delCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTG	DMPK	ENSG00000104936.20	transcript	ENST00000291270.9	protein_coding	15/15	245		chr19	TogoVar
DNAAF11_chr8_132565416_132680545	132674082	CAGGAGGA others(32): Show CAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0002 a0002c0004t0001g0002	2	276	0.0073	-39	c.10+ others(54): Show c.10+1363_10+1401delCCTCCTCCTGCTCCTCCTCCTCCTGCTCCT CCTCCTCCT	DNAAF11	ENSG00000129295.10	transcript	ENST00000620350.5	protein_coding	1/11			chr8	TogoVar
DNAAF1_chr16_84140308_84182918	84141285	GTTCACAG others(32): Show GTTCACAGGTCCCCCTGCTGCTGGTTCAGATACACCACGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0396 a0001c0001t0004g0396	1	456	0.0022	-39	c.-41 others(50): Show c.-4155_-4117delTTCACAGGTCCCCCTGCTGCTGGTTCAGATACAC CACGA	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding		4022		chr16	TogoVar
DNAH11_chr7_21538039_21906839	21789769	CTTTCTTT others(32): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0221 a0221	a0221c0256 a0221c0256	a0221c0256t0007 a0221c0256t0007	a0221c0256t0007g0221 a0221c0256t0007g0221	1	298	0.0034	-39	c.100 others(58): Show c.10026+467_10026+505delTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH14_chr1_224924675_225404286	225078812	CTCTCTCT others(32): Show CTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCCCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0026 a0026	a0026c0020 a0026c0020	a0026c0020t0001 a0026c0020t0001	a0026c0020t0001g0020 a0026c0020t0001g0020	1	240	0.0042	-39	c.242 others(56): Show c.2425-394_2425-356delTCTCTCTCTCTCCCTCTCTCTCTCTCTC TCCCTCTCTCT	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	17/85			chr1	TogoVar
DNAH9_chr17_11593470_11974748	11694837	TTTCCTTC others(32): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02809.hp2 HG03579.hp1 others(1): Show HG02717.hp2 HG02809.hp2 HG03579.hp1 NA20129.hp2	a0019 a0032 a0065 a0019 a0032 a0065	a0019c0017 a0032c0089 a0065c0067 a0019c0017 a0032c0089 a0065c0067	a0019c0017t0001 a0032c0089t0001 a0065c0067t0001 a0019c0017t0001 a0032c0089t0001 a0065c0067t0001	a0019c0017t0001g0009 a0019c0017t0001g0014 a0032c0089t0001g0094 others(1): Show a0019c0017t0001g0009 a0019c0017t0001g0014 a0032c0089t0001g0094 a0065c0067t0001g0038	4	178	0.0225	-39	c.487 others(56): Show c.4872+393_4872+431delCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCTTTCTT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNTTIP1_chr20_45786954_45816418	45800689	AAAAAAAT others(32): Show AAAAAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	412	0.0024	-39	c.373 others(54): Show c.373-383_373-345delAAAAATATATATATATATATATATATATAT ATATATATA	DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DNTTIP1_chr20_45786954_45816418	45800691	AAAAATAT others(32): Show AAAAATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02895.hp1 HG06807.hp2 HG02698.hp2 HG02895.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0131 a0001c0001t0002g0045 a0001c0001t0002g0131	3	412	0.0073	-39	c.373 others(54): Show c.373-381_373-343delAAATATATATATATATATATATATATATAT ATATATATA	DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DNTTIP1_chr20_45786954_45816418	45800693	AAATATAT others(32): Show AAATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02027.hp1 HG02040.hp2 others(22): Show HG00544.hp2 HG02027.hp1 HG02040.hp2 HG02080.hp1 HG02165.hp2 HG02683.hp2 HG02738.hp2 HG03239.hp1 HG03654.hp1 HG04115.hp1 NA18950.hp2 NA18968.hp2 NA18973.hp1 NA18983.hp1 NA18994.hp1 NA19000.hp1 NA19002.hp2 NA19010.hp2 NA19057.hp1 NA19060.hp2 NA19066.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0043 a0001c0001t0002g0044 others(8): Show a0001c0001t0002g0003 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0130 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137	25	412	0.0607	-39	c.373 others(54): Show c.373-379_373-341delATATATATATATATATATATATATATATAT ATATATATA	DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOCK2_chr5_169632275_170088382	169972547	AGATAGAT others(32): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01346.hp2 HG02647.hp2 HG01168.hp1 HG01346.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0016 a0001c0002 a0001c0003 a0001c0016	a0001c0002t0002 a0001c0003t0003 a0001c0016t0002 a0001c0002t0002 a0001c0003t0003 a0001c0016t0002	a0001c0002t0002g0112 a0001c0003t0003g0018 a0001c0016t0002g0069 a0001c0002t0002g0112 a0001c0003t0003g0018 a0001c0016t0002g0069	3	184	0.0163	-39	c.280 others(60): Show c.2800-10481_2800-10443delGATAGATAGATAGATAGATAGATA GATAGATAGATAGAT	DOCK2	ENSG00000134516.20	transcript	ENST00000520908.7	protein_coding	27/51		INFO_REALIGN_3_PRIME	chr5	TogoVar
DOK1_chr2_74549720_74562551	74561088	GAGAAGGA others(32): Show GAGAAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02965.hp1 HG02258.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	334	0.0060	-39	c.39 others(50): Show c.3975_*4013delAGAAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGA GGAGA	DOK1	ENSG00000115325.14	transcript	ENST00000233668.10	protein_coding		3538		chr2	TogoVar
DONSON_chr21_33572551_33593684	33577602	CCTACACA others(32): Show CCTACACACACACACACACACACACACACACACACACACA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0214 a0001c0001t0103g0214	1	426	0.0024	-39	c.66 others(48): Show c.666_*704delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TAG	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	10/10	666		chr21	TogoVar
DPP6_chr7_154047398_154899285	154656251	GGGGGGAG others(32): Show GGGGGGAGAGCTGGGAGAAGGGGCAGTCGAGAGGGAGGTC	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03579.hp2 HG02965.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0014 a0001c0003 a0002c0014	a0001c0003t0008 a0002c0014t0025 a0001c0003t0008 a0002c0014t0025	a0001c0003t0008g0025 a0002c0014t0025g0029 a0001c0003t0008g0025 a0002c0014t0025g0029	2	38	0.0526	-39	c.681 others(58): Show c.681-13031_681-12993delCGGGGGAGAGCTGGGAGAAGGGGCAG TCGAGAGGGAGGT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPYD_chr1_97072743_97926034	97134013	AAATATAT others(32): Show AAATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	52	0.0192	-39	c.262 others(60): Show c.2623-35420_2623-35382delATATATATATATATATATATATAT ATATATATATATATT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22			chr1	TogoVar

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Search Results (Total: 1684 hits)