Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DHRSX_chrX_2214506_2505976	2244302	C C	CCTCTCTC others(9): Show CCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0034 a0005c0006t0004g0034	1	50	0.0200	16	c.597 others(33): Show c.597-1088_597-1073dupAGAGAGAGAGAGAGAG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	5/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2298614	A A	ACACACAC others(9): Show ACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0016 a0002c0002t0002g0016	1	50	0.0200	16	c.287 others(33): Show c.287-7012_287-7011insCGTGTGTGTGTGTGTG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2314469	A A	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp2 HG02293.hp1 HG02293.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0047 a0003c0003t0002g0014 a0001c0001t0001g0047 a0003c0003t0002g0014	2	50	0.0400	16	c.287 others(35): Show c.287-22882_287-22867dupCTTCCTTCCTTCCTTC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2314483	A A	AAGGAAGG others(9): Show AAGGAAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01167.hp1 HG01496.hp1 others(1): Show HG00280.hp1 HG01167.hp1 HG01496.hp1 HG02698.hp1	a0002 a0003 a0011 a0002 a0003 a0011	a0002c0002 a0003c0003 a0003c0016 others(1): Show a0002c0002 a0003c0003 a0003c0016 a0011c0007	a0002c0002t0003 a0003c0003t0002 a0003c0016t0002 others(1): Show a0002c0002t0003 a0003c0003t0002 a0003c0016t0002 a0011c0007t0001	a0002c0002t0003g0008 a0003c0003t0002g0018 a0003c0016t0002g0040 others(1): Show a0002c0002t0003g0008 a0003c0003t0002g0018 a0003c0016t0002g0040 a0011c0007t0001g0028	4	50	0.0800	16	c.287 others(35): Show c.287-22881_287-22880insCCCTTCCTTCCTTCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2334170	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0008 a0002c0005t0008	a0002c0005t0008g0010 a0002c0005t0008g0010	1	50	0.0200	16	c.287 others(35): Show c.287-42568_287-42567insAAAAAAAAAAAAAAAA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2385110	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18966.hp1 HG02074.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0010 a0001c0001t0001 a0001c0012t0010	a0001c0001t0001g0006 a0001c0012t0010g0015 a0001c0001t0001g0006 a0001c0012t0010g0015	2	50	0.0400	16	c.286 others(35): Show c.286+23619_286+23634dupCACACACACACACACA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHTKD1_chr10_12063954_12128221	12100287	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02897.hp1 others(5): Show HG01884.hp2 HG02451.hp2 HG02897.hp1 HG03139.hp1 HG03209.hp2 NA18948.hp1 NA18979.hp2 NA18992.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0029 a0001c0001 a0003c0003 a0007c0029	a0001c0001t0001 a0001c0001t0011 a0003c0003t0002 others(3): Show a0001c0001t0001 a0001c0001t0011 a0003c0003t0002 a0003c0003t0008 a0003c0003t0019 a0007c0029t0011	a0001c0001t0001g0280 a0001c0001t0011g0038 a0001c0001t0011g0039 others(5): Show a0001c0001t0001g0280 a0001c0001t0011g0038 a0001c0001t0011g0039 a0001c0001t0011g0239 a0003c0003t0002g0180 a0003c0003t0008g0035 a0003c0003t0019g0227 a0007c0029t0011g0245	8	374	0.0214	16	c.175 others(31): Show c.1756+39_1756+40insTTTTTTTTTTTTTTTT	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
DHTKD1_chr10_12063954_12128221	12127557	G G	GCCCCCCC others(9): Show GCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0062 a0002c0002t0002g0062	1	374	0.0027	16	c.66 others(27): Show c.6669_*6670insCCCCCCCCCCCCCCCC	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding		4337		chr10	TogoVar
DHX15_chr4_24522475_24589554	24550094	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp2 HG01517.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0142 a0001c0001t0001g0124 a0001c0001t0001g0142	2	374	0.0054	16	c.108 others(35): Show c.1081-1088_1081-1073dupTTTTTTTTTTTTTTTT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	5/13			chr4	TogoVar
DHX15_chr4_24522475_24589554	24574205	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp1 HG01255.hp2 others(22): Show HG01106.hp1 HG01109.hp1 HG01255.hp2 HG01517.hp2 HG02055.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02602.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02896.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03704.hp1 HG03834.hp2 HG06807.hp1 NA19058.hp1 NA19088.hp1 NA19240.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0049 others(22): Show a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0147 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0212 a0001c0001t0001g0280 a0001c0001t0001g0291 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0325	25	374	0.0668	16	c.507 others(33): Show c.507+2022_507+2037dupTTTTTTTTTTTTTTTT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	2/13			chr4	TogoVar
DHX36_chr3_154267546_154329487	154310827	A A	ACATATAT others(9): Show ACATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0182 a0001c0004t0008g0182	1	366	0.0027	16	c.642 others(31): Show c.642+808_642+809insCATATATATATATATG	DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	4/24			chr3	TogoVar
DHX36_chr3_154267546_154329487	154312900	T T	TATATATA others(9): Show TATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	366	0.0027	16	c.604 others(33): Show c.604-1227_604-1226insTTATATATATATATAT	DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	3/24			chr3	TogoVar
DHX37_chr12_124941826_124994131	124983418	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01070.hp2 NA18979.hp2 others(2): Show HG00621.hp1 HG01070.hp2 NA18979.hp2 NA19068.hp2 NA19089.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0007 a0006c0019 a0001c0001 a0003c0007 a0006c0019	a0001c0001t0001 a0003c0007t0001 a0006c0019t0001 a0001c0001t0001 a0003c0007t0001 a0006c0019t0001	a0001c0001t0001g0159 a0001c0001t0001g0248 a0001c0001t0001g0249 others(2): Show a0001c0001t0001g0159 a0001c0001t0001g0248 a0001c0001t0001g0249 a0003c0007t0001g0168 a0006c0019t0001g0160	5	370	0.0135	16	c.277 others(31): Show c.277-811_277-796dupGTGTGTGTGTGTGTGT	DHX37	ENSG00000150990.9	transcript	ENST00000308736.7	protein_coding	2/26			chr12	TogoVar
DHX40_chr17_59560610_59613345	59588230	A A	AAAAAACA others(9): Show AAAAAACAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	324	0.0031	16	c.158 others(33): Show c.1582+182_1582+183insCAAAAAAAAACAAAAA	DHX40	ENSG00000108406.10	transcript	ENST00000251241.9	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHX57_chr2_38792729_38880934	38812841	C C	CTTGTTTG others(9): Show CTTGTTTGTTTGTTTGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01433.hp1 HG02109.hp2 others(6): Show HG01074.hp2 HG01433.hp1 HG02109.hp2 HG03041.hp2 HG03139.hp1 HG03486.hp1 NA19060.hp1 NA19066.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0002c0002t0008 a0001c0003t0001 a0002c0002t0001 a0002c0002t0008	a0001c0003t0001g0151 a0001c0003t0001g0182 a0001c0003t0001g0223 others(6): Show a0001c0003t0001g0151 a0001c0003t0001g0182 a0001c0003t0001g0223 a0002c0002t0001g0022 a0002c0002t0001g0075 a0002c0002t0001g0086 a0002c0002t0001g0117 a0002c0002t0001g0125 a0002c0002t0008g0272	9	284	0.0317	16	c.368 others(33): Show c.3681+964_3681+979dupACAAACAAACAAACAA	DHX57	ENSG00000163214.21	transcript	ENST00000457308.6	protein_coding	21/23			chr2	TogoVar
DHX57_chr2_38792729_38880934	38837611	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp1 HG00673.hp2 others(70): Show HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp2 HG01496.hp2 HG01516.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG02055.hp2 HG02258.hp2 HG02486.hp1 HG02630.hp1 HG02698.hp1 HG02738.hp2 HG02896.hp2 HG02922.hp2 HG03017.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03942.hp1 HG04115.hp1 NA18612.hp2 NA18943.hp2 NA18950.hp1 NA18951.hp2 NA18957.hp2 NA18961.hp1 NA18970.hp2 NA18983.hp1 NA18988.hp2 NA18997.hp1 NA19010.hp2 NA19043.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19079.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0008 a0010 a0014	a0001c0001 a0001c0003 a0001c0011 others(8): Show a0001c0001 a0001c0003 a0001c0011 a0001c0017 a0001c0019 a0002c0009 a0005c0007 a0007c0013 a0008c0012 a0010c0025 a0014c0026	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0011t0002 a0001c0017t0002 a0001c0019t0002 a0002c0009t0002 a0005c0007t0002 a0007c0013t0003 a0008c0012t0002 a0010c0025t0001 a0014c0026t0002	a0001c0001t0002g0003 a0001c0001t0002g0042 a0001c0001t0002g0122 others(69): Show a0001c0001t0002g0003 a0001c0001t0002g0042 a0001c0001t0002g0122 a0001c0001t0002g0132 a0001c0001t0002g0196 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0216 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0204 a0001c0001t0003g0251 a0001c0001t0005g0121 a0001c0001t0005g0208 a0001c0003t0001g0140 a0001c0003t0001g0182 a0001c0003t0001g0219 a0001c0003t0001g0223 a0001c0011t0002g0220 a0001c0017t0002g0207 a0001c0019t0002g0258 a0002c0009t0002g0093 a0005c0007t0002g0197 a0005c0007t0002g0198 a0005c0007t0002g0199 a0007c0013t0003g0194 a0008c0012t0002g0043 a0008c0012t0002g0044 a0010c0025t0001g0271 a0014c0026t0002g0214	73	284	0.2570	16	c.254 others(33): Show c.2542+219_2542+220insTTTTTTTTTTTTTTTT	DHX57	ENSG00000163214.21	transcript	ENST00000457308.6	protein_coding	13/23			chr2	TogoVar
DHX8_chr17_43478975_43530670	43511456	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp1 HG00735.hp2 others(18): Show HG00597.hp2 HG00642.hp1 HG00735.hp2 HG01361.hp2 HG01884.hp2 HG02148.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02809.hp2 HG02965.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03927.hp2 HG06807.hp1 NA18978.hp1 NA18993.hp2 NA19000.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0002t0006	a0001c0001t0001g0142 a0001c0001t0001g0166 a0001c0001t0001g0167 others(17): Show a0001c0001t0001g0142 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0003g0012 a0001c0001t0003g0033 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0211 a0001c0001t0003g0221 a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0003g0285 a0001c0001t0006g0012 a0001c0001t0006g0114 a0001c0001t0006g0247 a0001c0001t0007g0165 a0001c0001t0013g0128 a0001c0002t0006g0012	21	354	0.0593	16	c.250 others(35): Show c.2503-1902_2503-1887dupTTTTTTTTTTTTTTTT	DHX8	ENSG00000067596.12	transcript	ENST00000262415.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHX9_chr1_182834347_182892982	182868520	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02602.hp1 HG02723.hp1 others(12): Show HG02132.hp2 HG02602.hp1 HG02723.hp1 HG02818.hp1 HG04184.hp2 NA18940.hp2 NA18957.hp1 NA18959.hp2 NA18969.hp2 NA18970.hp2 NA18980.hp1 NA18982.hp1 NA18992.hp2 NA19000.hp1 NA19075.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0021 a0001c0002t0001g0132 a0001c0002t0001g0137 others(11): Show a0001c0002t0001g0021 a0001c0002t0001g0132 a0001c0002t0001g0137 a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0150 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0216 a0001c0004t0001g0224	15	276	0.0544	16	c.155 others(35): Show c.1557+1491_1557+1492insTTTTTTTTTTTTTTTT	DHX9	ENSG00000135829.17	transcript	ENST00000367549.4	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIAPH1_chr5_141510021_141624000	141591695	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02055.hp1 HG02698.hp1 others(2): Show HG01433.hp2 HG02055.hp1 HG02698.hp1 HG03130.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0002t0003	a0001c0001t0001g0050 a0001c0001t0007g0318 a0001c0001t0009g0024 others(2): Show a0001c0001t0001g0050 a0001c0001t0007g0318 a0001c0001t0009g0024 a0001c0002t0003g0155 a0001c0002t0003g0161	5	336	0.0149	16	c.118 others(33): Show c.118-3461_118-3446dupATATATATATATATAT	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH2_chrX_96679842_97609997	96751647	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0143 a0001c0001t0012g0143	1	147	0.0068	16	c.343 others(33): Show c.343-6503_343-6502insTTTTTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	3/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96775353	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01192.hp1 others(2): Show HG00140.hp1 HG00280.hp1 HG01192.hp1 HG04199.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0014	a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0002g0039 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0002g0039 a0001c0001t0009g0036 a0001c0001t0014g0012	5	147	0.0340	16	c.447 others(35): Show c.447+17119_447+17134dupGTGTGTGTGTGTGTGT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96939562	A A	ATATGTGT others(9): Show ATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18522.hp1 NA21309.hp2 HG03540.hp2 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0012 a0001c0004t0001 a0001c0001t0001 a0001c0001t0012 a0001c0004t0001	a0001c0001t0001g0142 a0001c0001t0012g0003 a0001c0004t0001g0140 a0001c0001t0001g0142 a0001c0001t0012g0003 a0001c0004t0001g0140	3	147	0.0204	16	c.132 others(33): Show c.1325+183_1325+184insGTGTGTGTGTGTGTAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96939668	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	147	0.0068	16	c.132 others(33): Show c.1325+300_1325+301insTTTTTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97137270	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02922.hp2 HG01074.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0047 a0001c0001t0011g0001 a0001c0001t0001g0047 a0001c0001t0011g0001	2	147	0.0136	16	c.259 others(35): Show c.2590-4378_2590-4363dupATATATATATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	21/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97198265	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0086 a0001c0001t0017g0086	1	147	0.0068	16	c.272 others(37): Show c.2720-49426_2720-49411dupCACACACACACACACA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97263900	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01515.hp1 HG00140.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0039 a0001c0001t0002g0022 a0001c0001t0002g0039	2	147	0.0136	16	c.284 others(37): Show c.2844+16085_2844+16100dupATTTATTTATTTATTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97300931	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	147	0.0068	16	c.284 others(37): Show c.2845-47166_2845-47151dupAAAAAAAAAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97465269	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0141 a0001c0001t0013g0141	1	147	0.0068	16	c.324 others(37): Show c.3241+35527_3241+35528insACACACACACACACAC	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	26/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97570075	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	147	0.0068	16	c.324 others(37): Show c.3242-29145_3242-29130dupATATATATATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	26/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97588996	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01069.hp1 HG01071.hp1 others(20): Show HG00621.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01358.hp1 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02083.hp1 HG03654.hp1 HG03942.hp1 NA18966.hp1 NA19004.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0005t0001	a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0048 others(20): Show a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0032 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0069 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0103 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0008g0041 a0001c0005t0001g0061	23	147	0.1565	16	c.324 others(37): Show c.3242-10241_3242-10226dupTATATATATATATATA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	26/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH3_chr13_59660583_60168928	59663665	G G	GCACACAC others(9): Show GCACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 homoSapiens_chm13v2.hp1 NA18943.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0002 a0001c0001t0003 a0001c0005t0002	a0001c0001t0003g0005 a0001c0005t0002g0062 a0001c0001t0003g0005 a0001c0005t0002g0062	2	208	0.0096	16	c.29 others(27): Show c.2918_*2919insTGTGTGTGTGTGTGTG	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding		1917		chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59756409	A A	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03491.hp2 HG03471.hp2 HG03491.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0002 a0001c0001t0001 a0004c0007t0002	a0001c0001t0001g0145 a0004c0007t0002g0050 a0001c0001t0001g0145 a0004c0007t0002g0050	2	208	0.0096	16	c.331 others(37): Show c.3319+17764_3319+17779dupCCTTCCTTCCTTCCTT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	27/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59756448	G G	GGAAGGAA others(9): Show GGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02818.hp1 HG03041.hp1 others(2): Show HG01884.hp1 HG02818.hp1 HG03041.hp1 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0132 others(2): Show a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0196 a0001c0001t0001g0199	5	208	0.0240	16	c.331 others(37): Show c.3319+17740_3319+17741insTTTCCTTCCTTCCTTC	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	27/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59802667	A A	ATTATTAT others(9): Show ATTATTATTATTATTTT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0053 a0002c0003t0002g0053	1	208	0.0048	16	c.316 others(35): Show c.3163+8120_3163+8121insAAAATAATAATAATAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	25/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59802667	A A	ATTATTAT others(9): Show ATTATTATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0041 a0002c0004t0001g0041	1	208	0.0048	16	c.316 others(35): Show c.3163+8120_3163+8121insAAAAAAAAAATAATAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	25/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59802667	A A	ATTATTTT others(9): Show ATTATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01993.hp2 HG02004.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0002 a0002c0004t0001 a0002c0004t0002	a0002c0004t0001g0042 a0002c0004t0001g0051 a0002c0004t0002g0045 a0002c0004t0001g0042 a0002c0004t0001g0051 a0002c0004t0002g0045	3	208	0.0144	16	c.316 others(35): Show c.3163+8120_3163+8121insAAAAAAAAAAAAATAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	25/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60052959	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01081.hp2 HG01109.hp1 others(14): Show HG01071.hp1 HG01081.hp2 HG01109.hp1 HG02071.hp2 HG02572.hp2 HG02622.hp2 HG03491.hp2 HG03492.hp1 HG03942.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18955.hp1 NA18973.hp2 NA18978.hp1 NA18986.hp1 NA19043.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0008 others(1): Show a0001c0001 a0001c0002 a0003c0008 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0009 a0003c0008t0001 a0004c0007t0002 a0004c0007t0006	a0001c0001t0001g0142 a0001c0001t0001g0181 a0001c0001t0003g0021 others(14): Show a0001c0001t0001g0142 a0001c0001t0001g0181 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0028 a0001c0001t0005g0124 a0001c0002t0001g0111 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0175 a0001c0002t0001g0186 a0001c0002t0001g0192 a0001c0002t0009g0170 a0003c0008t0001g0194 a0004c0007t0002g0050 a0004c0007t0006g0174	17	208	0.0817	16	c.496 others(35): Show c.496-10155_496-10140dupTTTTTTTTTTTTTTTT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	4/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60105099	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	208	0.0048	16	c.390 others(33): Show c.390+6895_390+6910dupTTTTTTTTTTTTTTTT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	3/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60125394	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	208	0.0048	16	c.213 others(33): Show c.213+7547_213+7562dupAAAAAAAAAAAAAAAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	2/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60156918	C C	CACATATA others(9): Show CACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02717.hp2 HG03704.hp2 HG02698.hp1 HG02717.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0108 a0001c0001t0002g0139 a0001c0001t0007g0198 a0001c0001t0002g0108 a0001c0001t0002g0139 a0001c0001t0007g0198	3	208	0.0144	16	c.180 others(33): Show c.180+6668_180+6669insATATATATATATATGT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DICER1_chr14_95081228_95162529	95122959	C C	CAAAGAAA others(9): Show CAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02976.hp1 HG03139.hp2 HG00597.hp1 HG02976.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0021 a0001c0001t0002 a0001c0004t0021	a0001c0001t0002g0236 a0001c0004t0021g0247 a0001c0004t0021g0248 a0001c0001t0002g0236 a0001c0004t0021g0247 a0001c0004t0021g0248	3	306	0.0098	16	c.137 others(35): Show c.1376+1236_1376+1237insCTTTCTTTCTTTCTTT	DICER1	ENSG00000100697.17	transcript	ENST00000343455.8	protein_coding	8/26			chr14	TogoVar
DICER1_chr14_95081228_95162529	95122959	C C	CACACAAA others(9): Show CACACAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0063 a0001c0010t0007g0063	1	306	0.0033	16	c.137 others(35): Show c.1376+1236_1376+1237insCTTTCTTTCTTTGTGT	DICER1	ENSG00000100697.17	transcript	ENST00000343455.8	protein_coding	8/26			chr14	TogoVar
DIDO1_chr20_62872743_62931505	62882590	A A	AGGAACGC others(9): Show AGGAACGCACCGCCCCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(116): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp2 HG00741.hp2 HG01069.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18999.hp2 NA19003.hp2 NA19007.hp1 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0013 a0014 a0020 a0021 a0022 a0024 a0025 a0031 a0033	a0001c0001 a0001c0028 a0002c0002 others(28): Show a0001c0001 a0001c0028 a0002c0002 a0002c0011 a0003c0003 a0003c0042 a0003c0043 a0004c0004 a0004c0044 a0004c0053 a0005c0005 a0005c0054 a0006c0008 a0006c0010 a0006c0021 a0006c0063 a0007c0007 a0008c0014 a0009c0016 a0011c0038 a0011c0061 a0013c0030 a0013c0031 a0014c0058 a0020c0056 a0021c0055 a0022c0052 a0024c0040 a0025c0039 a0031c0026 a0033c0024	a0001c0001t0001 a0001c0028t0001 a0002c0002t0001 others(31): Show a0001c0001t0001 a0001c0028t0001 a0002c0002t0001 a0002c0011t0001 a0003c0003t0001 a0003c0042t0001 a0003c0043t0001 a0004c0004t0001 a0004c0004t0009 a0004c0044t0001 a0004c0053t0001 a0005c0005t0002 a0005c0005t0013 a0005c0054t0002 a0006c0008t0001 a0006c0008t0005 a0006c0010t0004 a0006c0021t0003 a0006c0063t0003 a0007c0007t0001 a0008c0014t0001 a0009c0016t0003 a0011c0038t0001 a0011c0061t0001 a0013c0030t0016 a0013c0031t0002 a0014c0058t0003 a0020c0056t0002 a0021c0055t0001 a0022c0052t0001 a0024c0040t0001 a0025c0039t0002 a0031c0026t0001 a0033c0024t0001	a0001c0001t0001g0010 a0001c0001t0001g0051 a0001c0001t0001g0052 others(104): Show a0001c0001t0001g0010 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0028t0001g0041 a0002c0002t0001g0181 a0002c0011t0001g0144 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0064 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0235 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0240 a0003c0003t0001g0243 a0003c0003t0001g0245 a0003c0003t0001g0246 a0003c0003t0001g0247 a0003c0003t0001g0251 a0003c0003t0001g0253 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0258 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0268 a0003c0042t0001g0233 a0003c0043t0001g0234 a0004c0004t0001g0006 a0004c0004t0001g0015 a0004c0004t0001g0132 a0004c0004t0001g0133 a0004c0004t0001g0134 a0004c0004t0001g0135 a0004c0004t0001g0136 a0004c0004t0001g0137 a0004c0004t0001g0140 a0004c0004t0001g0149 a0004c0004t0009g0141 a0004c0044t0001g0165 a0004c0053t0001g0130 a0005c0005t0002g0005 a0005c0005t0002g0127 a0005c0005t0002g0128 a0005c0005t0002g0129 a0005c0005t0002g0155 a0005c0005t0002g0161 a0005c0005t0002g0163 a0005c0005t0002g0205 a0005c0005t0002g0260 a0005c0005t0013g0162 a0005c0054t0002g0160 a0006c0008t0001g0153 a0006c0008t0005g0115 a0006c0008t0005g0121 a0006c0008t0005g0122 a0006c0010t0004g0036 a0006c0010t0004g0037 a0006c0010t0004g0038 a0006c0010t0004g0040 a0006c0021t0003g0116 a0006c0021t0003g0117 a0006c0063t0003g0150 a0007c0007t0001g0016 a0007c0007t0001g0145 a0007c0007t0001g0146 a0007c0007t0001g0147 a0007c0007t0001g0148 a0008c0014t0001g0033 a0008c0014t0001g0034 a0008c0014t0001g0035 a0009c0016t0003g0113 a0009c0016t0003g0118 a0009c0016t0003g0120 a0011c0038t0001g0164 a0011c0061t0001g0131 a0013c0030t0016g0154 a0013c0031t0002g0046 a0014c0058t0003g0119 a0020c0056t0002g0126 a0021c0055t0001g0157 a0022c0052t0001g0158 a0024c0040t0001g0244 a0025c0039t0002g0261 a0031c0026t0001g0124 a0033c0024t0001g0178	119	320	0.3719	16	c.354 others(33): Show c.3542-192_3542-177dupCGGGGCGGTGCGTTCC	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding	15/15			chr20	TogoVar
DIDO1_chr20_62872743_62931505	62904780	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18964.hp2 HG03831.hp2 NA18964.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0247 a0003c0003t0001g0257 a0003c0003t0001g0247 a0003c0003t0001g0257	2	320	0.0063	16	c.158 others(35): Show c.1588+1091_1588+1106dupTTTTTTTTTTTTTTTT	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding	6/15			chr20	TogoVar
DIDO1_chr20_62872743_62931505	62929693	G G	GTATATAT others(9): Show GTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02572.hp1 HG02630.hp1 others(2): Show HG02148.hp2 HG02572.hp1 HG02630.hp1 HG02717.hp1 NA19240.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0022	a0001c0009 a0003c0023 a0005c0054 others(1): Show a0001c0009 a0003c0023 a0005c0054 a0022c0052	a0001c0009t0001 a0003c0023t0001 a0005c0054t0002 others(1): Show a0001c0009t0001 a0003c0023t0001 a0005c0054t0002 a0022c0052t0001	a0001c0009t0001g0024 a0003c0023t0001g0008 a0005c0054t0002g0160 others(1): Show a0001c0009t0001g0024 a0003c0023t0001g0008 a0005c0054t0002g0160 a0022c0052t0001g0158	5	320	0.0156	16	c.-34 others(27): Show c.-3455_-3454insTATATATATATATATA	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		3189		chr20	TogoVar
DIMT1_chr5_62382254_62408905	62389485	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01884.hp2 others(36): Show HG00621.hp2 HG00735.hp1 HG01884.hp2 HG01891.hp1 HG02056.hp2 HG02148.hp1 HG02293.hp1 HG02451.hp1 HG02738.hp2 HG02896.hp1 HG02976.hp2 HG03017.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03927.hp2 HG04199.hp1 NA18947.hp2 NA18955.hp2 NA18967.hp1 NA18978.hp1 NA18979.hp1 NA18985.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0029 a0001c0001t0002g0034 others(30): Show a0001c0001t0002g0014 a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0064 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0118 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0208	39	404	0.0965	16	c.900 others(31): Show c.900-449_900-434dupTTTTTTTTTTTTTTTT	DIMT1	ENSG00000086189.11	transcript	ENST00000199320.9	protein_coding	11/11			chr5	TogoVar
DIMT1_chr5_62382254_62408905	62396139	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01069.hp1 HG01361.hp2 others(22): Show HG00673.hp1 HG01069.hp1 HG01361.hp2 HG01433.hp1 HG01934.hp1 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02109.hp1 HG02630.hp2 HG02886.hp1 HG03831.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18906.hp1 NA18951.hp2 NA18967.hp2 NA18974.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19067.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0045 a0001c0001t0001g0192 a0001c0001t0001g0198 others(21): Show a0001c0001t0001g0045 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0002g0106 a0001c0001t0002g0165 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0065 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0105 a0001c0001t0003g0117 a0001c0001t0003g0177 a0001c0001t0003g0188 a0001c0001t0003g0191 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0007g0187 a0001c0001t0007g0196	25	404	0.0619	16	c.447 others(33): Show c.447-1533_447-1532insAAAAAAAAAAAAAAAA	DIMT1	ENSG00000086189.11	transcript	ENST00000199320.9	protein_coding	6/11			chr5	TogoVar
DIO1_chr1_53889187_53916086	53902801	C C	CCTTGGGA others(9): Show CCTTGGGATTTAATGTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	452	0.0022	16	c.338 others(33): Show c.338-1862_338-1847dupTGGGATTTAATGTTCT	DIO1	ENSG00000211452.12	transcript	ENST00000361921.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIO2_chr14_80192526_80216504	80211775	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	406	0.0025	16	c.-31 others(25): Show c.-319_-304dupTTTTTTTTTTTTTTTT	DIO2	ENSG00000211448.14	transcript	ENST00000438257.9	protein_coding		272	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr14	TogoVar
DIP2A_chr21_46453891_46575015	46461271	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01123.hp2 HG01192.hp2 others(18): Show HG00558.hp2 HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01981.hp1 HG02148.hp2 HG02559.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG03195.hp2 HG03516.hp1 HG03516.hp2 NA18612.hp1 NA18950.hp2 NA18967.hp1 NA19062.hp2 NA19079.hp1 NA19081.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0002c0011	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0009 a0001c0004t0001 a0001c0008t0002 a0002c0011t0004	a0001c0001t0002g0044 a0001c0001t0004g0032 a0001c0002t0001g0029 others(18): Show a0001c0001t0002g0044 a0001c0001t0004g0032 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0270 a0001c0002t0009g0047 a0001c0004t0001g0031 a0001c0004t0001g0036 a0001c0004t0001g0039 a0001c0008t0002g0045 a0002c0011t0004g0030	21	374	0.0562	16	c.91+ others(31): Show c.91+2056_91+2071dupAAAAAAAAAAAAAAAA	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar

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