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
DNAH3_chr16_20928111_21155846	21020397	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0088 a0006c0008t0001g0088	1	234	0.0043	25	c.563 others(42): Show c.5639-529_5639-528insAAAAAAAAAAAAATATATATATATA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21067776	G G	GAGAGAGA others(18): Show GAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0070 a0001c0013t0001g0070	1	234	0.0043	25	c.324 others(42): Show c.3244-358_3244-357insTCTCTCTCTCTCTCTCTCTCTCTCT	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAH6_chr2_84511498_84824589	84601014	T T	TTATAATA others(18): Show TTATAATAATAATGTTATTATTATAC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	116	0.0086	25	c.286 others(44): Show c.2869-3294_2869-3270dupTAATAATGTTATTATTATACTATAA	DNAH6	ENSG00000115423.19	transcript	ENST00000389394.8	protein_coding	18/76		INFO_REALIGN_3_PRIME	chr2	TogoVar
DNAH6_chr2_84511498_84824589	84618076	T T	TAGTTATA others(18): Show TAGTTATATTACTTGGGAATATCCCA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	116	0.0086	25	c.357 others(44): Show c.3572+1112_3572+1113insTATCCCAAGTTATATTACTTGGGAA	DNAH6	ENSG00000115423.19	transcript	ENST00000389394.8	protein_coding	23/76		INFO_REALIGN_3_PRIME	chr2	TogoVar
DNAH7_chr2_195732703_196073837	195766167	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18971.hp1 HG02886.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0207 a0001c0001t0002g0169 a0001c0001t0002g0207	2	256	0.0078	25	c.114 others(46): Show c.11433+5492_11433+5493insAAAAAAAAAAAAAAAAAAAAAAAA A	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	61/64			chr2	TogoVar
DNAH8_chr6_38710311_39035792	38715960	A A	ATATATAT others(18): Show ATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0050 a0050	a0050c0128 a0050c0128	a0050c0128t0001 a0050c0128t0001	a0050c0128t0001g0232 a0050c0128t0001g0232	1	284	0.0035	25	c.-35 others(40): Show c.-35+546_-35+547insATATATTTTTTTTTTTTTTTTTTTT	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	1/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38766156	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0186 a0003c0002t0001g0186	1	284	0.0035	25	c.161 others(44): Show c.1618-4257_1618-4256insGTGTGTGTGTGTGTGTGTGTGTGTG	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	11/92			chr6	TogoVar
DNAH8_chr6_38710311_39035792	38818537	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0134 a0002c0134	a0002c0134t0001 a0002c0134t0001	a0002c0134t0001g0069 a0002c0134t0001g0069	1	284	0.0035	25	c.352 others(44): Show c.3523+2896_3523+2897insAAAAAAAAAAAAAAAAAAAAAAAAA	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	26/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH9_chr17_11593470_11974748	11694884	C C	CTGTCTGT others(18): Show CTGTCTGTCTGTCTGTCTGTCTGTCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp2 HG02486.hp2 HG03098.hp2	a0018 a0027 a0018 a0027	a0018c0150 a0027c0033 a0018c0150 a0027c0033	a0018c0150t0002 a0027c0033t0002 a0018c0150t0002 a0027c0033t0002	a0018c0150t0002g0012 a0027c0033t0002g0103 a0018c0150t0002g0012 a0027c0033t0002g0103	2	178	0.0112	25	c.487 others(42): Show c.4872+438_4872+439insGTCTGTCTGTCTGTCTGTCTGTCTT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11960435	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA20905.hp2 HG00558.hp2 NA20905.hp2	a0003 a0076 a0003 a0076	a0003c0006 a0076c0119 a0003c0006 a0076c0119	a0003c0006t0001 a0076c0119t0001 a0003c0006t0001 a0076c0119t0001	a0003c0006t0001g0122 a0076c0119t0001g0036 a0003c0006t0001g0122 a0076c0119t0001g0036	2	178	0.0112	25	c.128 others(46): Show c.12844-1429_12844-1405dupAAAAAAAAAAAAAAAAAAAAAAAA A	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	67/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI7_chr12_25103289_25200160	25106647	T T	TTTGTATA others(18): Show TTTGTATATACTTGGCTAATATTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02647.hp2 HG02615.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0029 a0001c0001t0001g0030	2	336	0.0060	25	c.18 others(36): Show c.1876_*1900dupTAGAATATTAGCCAAGTATATACAA	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding		1641		chr12	TogoVar
DNAI7_chr12_25103289_25200160	25108825	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00673.hp2 HG02109.hp1 HG03453.hp2 HG00673.hp2 HG02109.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0127 a0002c0002t0001g0273 a0002c0002t0001g0306 a0001c0001t0001g0127 a0002c0002t0001g0273 a0002c0002t0001g0306	3	336	0.0089	25	c.189 others(38): Show c.1894-3_1894-2insTTTTTTTTTTTTTTTTTTTTTTTTT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	15/15			chr12	TogoVar
DNAJB6_chr7_157332004_157422439	157357322	C C	CCGTCCGT others(18): Show CCGTCCGTCCCTTTTTTTGAGACAGT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03486.hp1 HG00673.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0368 a0001c0001t0013g0341 a0001c0001t0001g0368 a0001c0001t0013g0341	2	372	0.0054	25	c.-26 others(42): Show c.-26-1224_-26-1223insGTCCGTCCCTTTTTTTGAGACAGTC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJC13_chr3_132412502_132544032	132487559	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp2 HG02965.hp1 others(2): Show HG01109.hp1 HG02486.hp2 HG02965.hp1 HG03139.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0204 a0001c0001t0002g0131 a0001c0001t0002g0132 others(2): Show a0001c0001t0001g0204 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0295	5	318	0.0157	25	c.326 others(42): Show c.3268-719_3268-718insTTTTTTTTTTTTTTTTTTTTTTTTT	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	29/55		INFO_REALIGN_3_PRIME	chr3	TogoVar
DNAJC15_chr13_43018586_43119213	43024893	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02970.hp2 HG03516.hp2 others(2): Show HG02965.hp1 HG02970.hp2 HG03516.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0054 a0002c0003t0008 a0002c0003t0032 a0001c0002t0054 a0002c0003t0008 a0002c0003t0032	a0001c0002t0054g0088 a0002c0003t0008g0303 a0002c0003t0008g0304 others(2): Show a0001c0002t0054g0088 a0002c0003t0008g0303 a0002c0003t0008g0304 a0002c0003t0008g0305 a0002c0003t0032g0339	5	352	0.0142	25	c.108 others(42): Show c.108+1177_108+1178insAAAAAAAAAAAAAAAAAAAAAAAAA	DNAJC15	ENSG00000120675.6	transcript	ENST00000379221.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC18_chr5_139405203_139444525	139435705	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03654.hp2 NA18945.hp1 others(3): Show HG00099.hp2 HG03654.hp2 NA18945.hp1 NA18959.hp2 NA18995.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0088 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090	6	314	0.0191	25	c.227 others(42): Show c.227+1642_227+1666dupAAAAAAAAAAAAAAAAAAAAAAAAA	DNAJC18	ENSG00000170464.10	transcript	ENST00000302060.10	protein_coding	2/7			chr5	TogoVar
DNAJC1_chr10_21751548_22008730	21910829	A A	AAGGAAAG others(18): Show AAGGAAAGGAGAGGAGAGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01167.hp1 HG02258.hp1 others(4): Show HG00642.hp1 HG01167.hp1 HG02258.hp1 HG02559.hp1 HG02886.hp1 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0023 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0090 a0001c0001t0001g0099	7	164	0.0427	25	c.730 others(42): Show c.730-6218_730-6217insCTCCTCTCCTCTCCTCTCCTTTCCT	DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	6/11			chr10	TogoVar
DNAJC3_chr13_95672139_95799988	95692042	A A	ATGGAAAG others(18): Show ATGGAAAGAGAGGGAGAGGGAGACCG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03130.hp2 HG03139.hp1 HG01109.hp1 HG03130.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0195 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0195 a0001c0001t0005g0197 a0001c0001t0005g0198	3	374	0.0080	25	c.82+ others(42): Show c.82+14754_82+14778dupCGTGGAAAGAGAGGGAGAGGGAGAC	DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC3_chr13_95672139_95799988	95704851	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02145.hp2 HG02970.hp2 others(6): Show HG02080.hp2 HG02145.hp2 HG02970.hp2 HG03195.hp1 HG03704.hp2 NA18968.hp2 NA18978.hp2 NA18993.hp2 NA19064.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0003 a0001c0001 a0005c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0005c0003t0005	a0001c0001t0001g0110 a0001c0001t0001g0201 a0001c0001t0001g0250 others(6): Show a0001c0001t0001g0110 a0001c0001t0001g0201 a0001c0001t0001g0250 a0001c0001t0004g0220 a0001c0001t0005g0099 a0001c0001t0005g0108 a0001c0001t0011g0139 a0001c0001t0011g0183 a0005c0003t0005g0111	9	374	0.0241	25	c.83- others(40): Show c.83-4358_83-4357insTTTTTTTTTTTTTTTTTTTTTTTTT	DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC3_chr13_95672139_95799988	95764724	A A	ATATATAT others(18): Show ATATATATATACATATATAATACATG	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	374	0.0027	25	c.107 others(42): Show c.1075+790_1075+814dupATACATGTATATATATACATATATA	DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC4_chr11_64225548_64239281	64237126	G G	GAGACAGA others(18): Show GAGACAGAGACAGACAGAGACAGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	25	c.29 others(36): Show c.2942_*2943insAGACAGAGACAGACAGAGACAGACA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2846		chr11	TogoVar
DNAJC5_chr20_63890126_63941011	63937929	T T	TTCTCGCT others(18): Show TTCTCGCTGCCCCTTCTAGCCTTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0095 a0001c0001t0051g0095	1	372	0.0027	25	c.63 others(36): Show c.6361_*6362insTCTCGCTGCCCCTTCTAGCCTTAGC	DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding		1919		chr20	TogoVar
DNAJC7_chr17_41971435_42022439	41986047	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	338	0.0030	25	c.101 others(44): Show c.1010+1747_1010+1771dupTTTTTTTTTTTTTTTTTTTTTTTTT	DNAJC7	ENSG00000168259.17	transcript	ENST00000457167.9	protein_coding	9/13			chr17	TogoVar
DNAL1_chr14_73639986_73708732	73681625	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0322 a0001c0001t0016g0322	1	340	0.0029	25	c.265 others(42): Show c.265-5634_265-5633insTATATATATATATATATATATATAT	DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding	5/7			chr14	TogoVar
DNAL1_chr14_73639986_73708732	73681629	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0197 a0001c0001t0039g0197	1	340	0.0029	25	c.265 others(42): Show c.265-5630_265-5629insTATATATATATATATATATATATAT	DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding	5/7			chr14	TogoVar
DNAL4_chr22_38773508_38799143	38783212	T T	TGGGCCTT others(18): Show TGGGCCTTCCCTCCCACTACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02451.hp1 HG02559.hp2 others(5): Show HG01934.hp1 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02723.hp1 HG02818.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0120 a0001c0002t0001g0010 a0001c0002t0001g0120	8	370	0.0216	25	c.-13 others(42): Show c.-139-367_-139-343dupGTGTGTGTAGTGGGAGGGAAGGCCC	DNAL4	ENSG00000100246.13	transcript	ENST00000216068.9	protein_coding	1/3			chr22	TogoVar
DNAL4_chr22_38773508_38799143	38783333	C C	CACGCGGG others(18): Show CACGCGGGCCTTCCCTCCCACTACAT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0072 a0001c0001t0008g0072	1	370	0.0027	25	c.-13 others(42): Show c.-139-488_-139-464dupATGTAGTGGGAGGGAAGGCCCGCGT	DNAL4	ENSG00000100246.13	transcript	ENST00000216068.9	protein_coding	1/3			chr22	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0021 a0004c0006t0021	a0004c0006t0021g0072 a0004c0006t0021g0072	1	279	0.0036	25	c.59 others(36): Show c.5994_*5995insAAAAAAATATATATATATATATATA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4523		chrX	TogoVar
DNASE1_chr16_3649691_3663095	3653806	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	440	0.0023	25	c.-12 others(36): Show c.-1240_-1239insAAAAAAAAAAAAAAAAAAAAAAAAA	DNASE1	ENSG00000213918.11	transcript	ENST00000246949.10	protein_coding		884		chr16	TogoVar
DNER_chr2_229352629_229719555	229554941	A A	AAAGGGAA others(18): Show AAAGGGAAGGGAAGGGAAGGGAAGGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02056.hp1 HG02886.hp2 others(6): Show HG00735.hp2 HG02056.hp1 HG02886.hp2 HG02922.hp1 HG03130.hp2 HG03209.hp2 HG03471.hp1 HG03654.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0039 others(6): Show a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0151 a0001c0002t0001g0166 a0001c0002t0001g0176	9	176	0.0511	25	c.848 others(42): Show c.848-7874_848-7850dupCCCTTCCCTTCCCTTCCCTTCCCTT	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	4/12			chr2	TogoVar
DNM2_chr19_10713079_10836903	10726218	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01981.hp2 HG02257.hp1 HG01516.hp2 HG01981.hp2 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0004 a0001c0002t0002g0008 a0001c0002t0002g0009	3	278	0.0108	25	c.161 others(42): Show c.161+7827_161+7828insAAAAAAAAAAAAAAAAAAAAAAAAA	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM2_chr19_10713079_10836903	10760827	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	278	0.0036	25	c.235 others(42): Show c.235+1033_235+1034insTTTTTTTTTTTTTTTTTTTTTTTTT	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM3_chr1_171836498_172417717	172106847	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03225.hp2 HG02615.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0080 a0001c0002t0001g0076 a0001c0001t0002g0080 a0001c0002t0001g0076	2	136	0.0147	25	c.154 others(46): Show c.1545+13996_1545+13997insTTTTTTTTTTTTTTTTTTTTTTTT T	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172304206	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	136	0.0074	25	c.177 others(44): Show c.1770-4506_1770-4505insAAAAAAAAAAAAAAAAAAAAAAAAA	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172337866	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03669.hp1 HG02572.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0048 a0001c0002t0004g0020 a0001c0002t0001g0048 a0001c0002t0004g0020	2	136	0.0147	25	c.189 others(46): Show c.1893+14564_1893+14588dupTTATTTTATTTTATTTTATTTTAT T	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNMBP_chr10_99870577_100014947	99879101	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA20300.hp2 HG03654.hp2 NA20300.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0127 a0003c0005t0004g0142 a0003c0005t0004g0127 a0003c0005t0004g0142	2	274	0.0073	25	c.454 others(42): Show c.4548+709_4548+710insGTTTTTTTTTTTTTTTTTTTTTTTT	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	16/16			chr10	TogoVar
DNMBP_chr10_99870577_100014947	99879101	A A	AAAAAAAA others(18): Show AAAAAAAAAAACAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0183 a0001c0006t0004g0183	1	274	0.0037	25	c.454 others(42): Show c.4548+709_4548+710insGTTTTTTTTTTTTTGTTTTTTTTTT	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	16/16			chr10	TogoVar
DNMBP_chr10_99870577_100014947	99970971	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA19066.hp1 HG01257.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0017 a0002c0002 a0001c0017 a0002c0002	a0001c0017t0002 a0002c0002t0022 a0001c0017t0002 a0002c0002t0022	a0001c0017t0002g0190 a0002c0002t0022g0206 a0001c0017t0002g0190 a0002c0002t0022g0206	2	274	0.0073	25	c.145 others(41): Show c.145+984_145+1008dupTTTTTTTTTTTTTTTTTTTTTTTTT	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	2/16			chr10	TogoVar
DNMT3A_chr2_25222874_25346925	25278042	C C	CACACACA others(18): Show CACACACACACACACACACACAACAG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0125 a0001c0001t0018g0125	1	294	0.0034	25	c.449 others(42): Show c.449-2500_449-2499insCTGTTGTGTGTGTGTGTGTGTGTGT	DNMT3A	ENSG00000119772.19	transcript	ENST00000321117.10	protein_coding	4/22			chr2	TogoVar
DNMT3L_chr21_44241339_44266897	44264703	A A	ATCCTCAG others(18): Show ATCCTCAGCTTCCTGAGTATCTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	392	0.0026	25	c.-29 others(36): Show c.-2972_-2971insCCCCAGATACTCAGGAAGCTGAGGA	DNMT3L	ENSG00000142182.9	transcript	ENST00000628202.3	protein_coding		2807		chr21	TogoVar
DOC2B_chr17_137789_186650	141154	G G	GGGGACCT others(18): Show GGGGACCTGGTGAGGGGACCTGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	339	0.0030	25	c.62 others(36): Show c.6286_*6287insTCACCAGGTCCCCTCACCAGGTCCC	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1634		chr17	TogoVar
DOCK10_chr2_224760090_225047468	224892427	G G	GAAAGAAA others(18): Show GAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03041.hp2 HG06807.hp2 others(1): Show HG02647.hp1 HG03041.hp2 HG06807.hp2 NA21309.hp1	a0002 a0015 a0002 a0015	a0002c0003 a0015c0025 a0002c0003 a0015c0025	a0002c0003t0001 a0015c0025t0001 a0002c0003t0001 a0015c0025t0001	a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0060 others(1): Show a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0060 a0015c0025t0001g0167	4	172	0.0233	25	c.416 others(42): Show c.416+3867_416+3868insTCTTTTCTTTTCTTTTCTTTTCTTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	4/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0125 a0002c0002t0001g0125	1	172	0.0058	25	c.244 others(42): Show c.244-4329_244-4328insATATATATATATATATATATATATA	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	225018596	A A	ATATATAT others(18): Show ATATATATATAATATATATGTAATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp2 HG02809.hp1 HG02258.hp2 HG02630.hp2 HG02809.hp1	a0002 a0002	a0002c0015 a0002c0016 a0002c0017 a0002c0015 a0002c0016 a0002c0017	a0002c0015t0001 a0002c0016t0001 a0002c0017t0001 a0002c0015t0001 a0002c0016t0001 a0002c0017t0001	a0002c0015t0001g0045 a0002c0016t0001g0044 a0002c0017t0001g0046 a0002c0015t0001g0045 a0002c0016t0001g0044 a0002c0017t0001g0046	3	172	0.0174	25	c.123 others(44): Show c.123+23631_123+23655dupATATTACATATATATTATATATATA	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK11_chrX_118490815_118691147	118544645	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp2 HG02896.hp1 HG02896.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0156 a0003c0005t0001g0105 a0001c0001t0001g0156 a0003c0005t0001g0105	2	211	0.0095	25	c.393 others(40): Show c.393-670_393-646dupTTTTTTTTTTTTTTTTTTTTTTTTT	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	4/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
DOCK1_chr10_126900428_127457516	126958888	G G	GTGACACA others(18): Show GTGACACAGCCCTCAGGAGGTCCTGA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0049 a0001c0009t0002g0049	1	136	0.0074	25	c.47- others(42): Show c.47-11813_47-11789dupTGACACAGCCCTCAGGAGGTCCTGA	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127347832	G G	GCCTTCCC others(18): Show GCCTTCCCTTCCCTTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0005 a0002c0017t0005	a0002c0017t0005g0101 a0002c0017t0005g0101	1	136	0.0074	25	c.322 others(44): Show c.3224+4114_3224+4138dupTTCCCTTCCCTTCCCTTCCCTTCCC	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	31/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK3_chr3_50669927_51389198	50839693	T T	TCTCCCCT others(18): Show TCTCCCCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0108 a0001c0001t0009g0108	1	212	0.0047	25	c.122 others(42): Show c.122-1958_122-1957insCCTCCCCTCCCCTCCCCTCCCCTCC	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK3_chr3_50669927_51389198	50914050	C C	CTTATTTT others(18): Show CTTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	212	0.0047	25	c.219 others(44): Show c.219-19929_219-19905dupTATTTTATTTTATTTTATTTTATTT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	4/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK4_chr7_111721110_112211399	111762762	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	106	0.0094	25	c.402 others(44): Show c.4020+2355_4020+2356insAAAAAAAAAAAAAAAAAAAAAAAAA	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	39/52			chr7	TogoVar

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