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
DHRS7B_chr17_21121964_21196420	21138101	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp1 HG01175.hp2 others(6): Show HG01099.hp1 HG01123.hp1 HG01175.hp2 HG03239.hp1 HG03540.hp2 HG03704.hp2 HG03831.hp2 NA18963.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0283 a0001c0001t0001g0314 others(6): Show a0001c0001t0001g0182 a0001c0001t0001g0283 a0001c0001t0001g0314 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0001g0340	9	382	0.0236	14	c.20+ others(31): Show c.20+11128_20+11141dupCACACACACACACA	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS7B_chr17_21121964_21196420	21140479	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19012.hp1 NA18522.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0320 a0001c0001t0001g0010 a0001c0001t0001g0320	2	382	0.0052	14	c.20+ others(31): Show c.20+13535_20+13548dupACACACACACACAC	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS7B_chr17_21121964_21196420	21140538	A A	ACACACAC others(7): Show ACACACACACACACC	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA19005.hp1 HG03704.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0340 a0001c0001t0001g0033 a0001c0001t0001g0340	2	382	0.0052	14	c.20+ others(31): Show c.20+13548_20+13549insACACACACACACCC	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS7B_chr17_21121964_21196420	21164030	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00597.hp1 others(75): Show HG00140.hp1 HG00323.hp2 HG00597.hp1 HG00609.hp2 HG00642.hp2 HG00733.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp1 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp2 HG02300.hp1 HG02615.hp1 HG02647.hp2 HG02895.hp2 HG02970.hp2 HG03041.hp1 HG03239.hp1 HG03486.hp2 HG03491.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18949.hp1 NA18952.hp2 NA18954.hp2 NA18959.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18987.hp2 NA18989.hp1 NA18993.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp2 NA19011.hp2 NA19043.hp1 NA19063.hp2 NA19064.hp2 NA19075.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0237 others(75): Show a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0329 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0006t0001g0353	78	382	0.2042	14	c.21- others(29): Show c.21-7985_21-7972dupTTTTTTTTTTTTTT	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS7B_chr17_21121964_21196420	21187094	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp2 HG02965.hp2 others(2): Show HG02559.hp2 HG02922.hp2 HG02965.hp2 HG03139.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0358 a0001c0001t0001g0360 others(2): Show a0001c0001t0001g0220 a0001c0001t0001g0358 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362	5	382	0.0131	14	c.620 others(31): Show c.620-1611_620-1598dupTATATATATATATA	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS7_chr14_60139119_60170398	60169133	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0050 a0004c0005t0002g0050	1	388	0.0026	14	c.-38 others(25): Show c.-3838_-3825dupTTTTTTTTTTTTTT	DHRS7	ENSG00000100612.14	transcript	ENST00000557185.6	protein_coding		3736		chr14	TogoVar
DHRS9_chr2_169064563_169101167	169078840	T T	TTTTTTTT others(7): Show TTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19043.hp2 HG03486.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0360 a0001c0001t0001g0125 a0001c0001t0001g0360	2	398	0.0050	14	c.-59 others(31): Show c.-59-2682_-59-2681insTTTTTTTTTTTTGT	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS9_chr2_169064563_169101167	169079894	A A	AGAGAGAG others(7): Show AGAGAGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG02071.hp1 others(14): Show HG00438.hp1 HG00544.hp1 HG02071.hp1 HG02572.hp1 NA18939.hp1 NA18948.hp1 NA18955.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18975.hp1 NA18999.hp1 NA19004.hp2 NA19007.hp2 NA19072.hp1 NA19075.hp2 NA19090.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0003 a0003c0012 a0006c0009 a0001c0003 a0003c0012 a0006c0009	a0001c0003t0001 a0003c0012t0001 a0006c0009t0001 a0001c0003t0001 a0003c0012t0001 a0006c0009t0001	a0001c0003t0001g0004 a0001c0003t0001g0012 a0001c0003t0001g0138 others(11): Show a0001c0003t0001g0004 a0001c0003t0001g0012 a0001c0003t0001g0138 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0155 a0001c0003t0001g0162 a0003c0012t0001g0173 a0006c0009t0001g0143	17	398	0.0427	14	c.-59 others(31): Show c.-59-1626_-59-1625insAGAGAGGGAGGGAG	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS9_chr2_169064563_169101167	169079920	G G	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	398	0.0025	14	c.-59 others(31): Show c.-59-1550_-59-1537dupGAGAGAGAGAGAGA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS9_chr2_169064563_169101167	169079983	G G	GAGAGAAA others(7): Show GAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	398	0.0025	14	c.-59 others(31): Show c.-59-1537_-59-1536insGAAAGAAAGAAAGA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS9_chr2_169064563_169101167	169079983	G G	GAGAGAGA others(7): Show GAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03710.hp1 NA18967.hp2 HG01255.hp1 HG03710.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0121 a0001c0001t0001g0271 a0001c0001t0001g0108 a0001c0001t0001g0121 a0001c0001t0001g0271	3	398	0.0075	14	c.-59 others(31): Show c.-59-1537_-59-1536insGAGAGAAAGAAAGA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS9_chr2_169064563_169101167	169079983	G G	GAGAGAGA others(7): Show GAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA19085.hp1 NA18940.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0304 a0001c0001t0001g0169 a0001c0001t0001g0304	2	398	0.0050	14	c.-59 others(31): Show c.-59-1537_-59-1536insGAGAGAGAGAAAGA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2232033	C C	CCTCCTCC others(7): Show CCTCCTCCCTTACTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp1 HG01167.hp1 others(37): Show HG00280.hp1 HG00673.hp1 HG01167.hp1 HG01261.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG02004.hp1 HG02074.hp1 HG02293.hp1 HG02300.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03130.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03710.hp1 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18943.hp1 NA18948.hp1 NA18952.hp2 NA18960.hp1 NA18966.hp1 NA18971.hp1 NA19005.hp1 NA19066.hp1 NA19070.hp1 NA19079.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0010 a0011	a0001c0001 a0001c0012 a0002c0002 others(8): Show a0001c0001 a0001c0012 a0002c0002 a0004c0004 a0004c0014 a0005c0006 a0006c0013 a0007c0009 a0008c0010 a0010c0015 a0011c0007	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(13): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0012t0010 a0002c0002t0003 a0002c0002t0004 a0004c0004t0001 a0004c0004t0005 a0004c0004t0009 a0004c0014t0005 a0005c0006t0004 a0006c0013t0015 a0007c0009t0013 a0008c0010t0014 a0010c0015t0007 a0011c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0012 others(37): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0011g0022 a0001c0001t0012g0027 a0001c0012t0010g0015 a0002c0002t0003g0002 a0002c0002t0003g0008 a0002c0002t0003g0017 a0002c0002t0003g0042 a0002c0002t0003g0045 a0002c0002t0003g0050 a0002c0002t0004g0031 a0002c0002t0004g0035 a0004c0004t0001g0048 a0004c0004t0005g0009 a0004c0004t0005g0030 a0004c0004t0009g0032 a0004c0014t0005g0007 a0005c0006t0004g0034 a0006c0013t0015g0011 a0007c0009t0013g0005 a0008c0010t0014g0046 a0010c0015t0007g0036 a0011c0007t0001g0028	40	50	0.8000	14	c.805 others(33): Show c.805-10805_805-10804insAAGTAAGGGAGGAG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2243788	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0011 a0011	a0011c0007 a0011c0007	a0011c0007t0001 a0011c0007t0001	a0011c0007t0001g0028 a0011c0007t0001g0028	1	50	0.0200	14	c.597 others(29): Show c.597-572_597-559dupAAAAAAAAAAAAAA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	5/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2246748	G G	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18948.hp1 HG02630.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0003 a0002c0005t0008 a0002c0002t0003 a0002c0005t0008	a0002c0002t0003g0017 a0002c0005t0008g0010 a0002c0002t0003g0017 a0002c0005t0008g0010	2	50	0.0400	14	c.597 others(31): Show c.597-3519_597-3518insTTCTTTCTTTCTTT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	5/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2296986	G G	GGACCCAG others(7): Show GGACCCAGGCAGATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp1 HG03130.hp1 others(1): Show HG02886.hp2 HG02895.hp1 HG03130.hp1 NA18522.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0001 a0002c0002t0004 a0005c0006t0004 a0001c0001t0001 a0002c0002t0004 a0005c0006t0004	a0001c0001t0001g0037 a0002c0002t0004g0031 a0002c0002t0004g0035 others(1): Show a0001c0001t0001g0037 a0002c0002t0004g0031 a0002c0002t0004g0035 a0005c0006t0004g0034	4	50	0.0800	14	c.287 others(31): Show c.287-5397_287-5384dupTATCTGCCTGGGTC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2317256	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0048 a0004c0004t0001g0048	1	50	0.0200	14	c.287 others(33): Show c.287-25654_287-25653insAAAAAAAAAAAAAA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2328079	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02886.hp1 HG02922.hp2 HG02486.hp2 HG02886.hp1 HG02922.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0005 a0006c0013 a0001c0001 a0002c0005 a0006c0013	a0001c0001t0001 a0002c0005t0004 a0006c0013t0015 a0001c0001t0001 a0002c0005t0004 a0006c0013t0015	a0001c0001t0001g0026 a0002c0005t0004g0004 a0006c0013t0015g0011 a0001c0001t0001g0026 a0002c0005t0004g0004 a0006c0013t0015g0011	3	50	0.0600	14	c.287 others(33): Show c.287-36477_287-36476insTTTTTTTTTTTTTT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2334170	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02922.hp1 HG02698.hp1 HG02922.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0012 a0003c0003t0002 a0001c0001t0012 a0003c0003t0002	a0001c0001t0012g0027 a0003c0003t0002g0018 a0001c0001t0012g0027 a0003c0003t0002g0018	2	50	0.0400	14	c.287 others(33): Show c.287-42568_287-42567insAAAAAAAAAAAAAA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2370590	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	50	0.0200	14	c.286 others(33): Show c.286+38141_286+38154dupTTTTTTTTTTTTTT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2385110	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0009 a0004c0004t0005g0009	1	50	0.0200	14	c.286 others(33): Show c.286+23621_286+23634dupCACACACACACACA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2397930	G G	GCACACAC others(7): Show GCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0006 a0005c0008t0006	a0005c0008t0006g0001 a0005c0008t0006g0001	1	50	0.0200	14	c.286 others(33): Show c.286+10801_286+10814dupTGTGTGTGTGTGTG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2465824	A A	AAAAAAAG others(7): Show AAAAAAAGAAAAAAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18522.hp1 HG02717.hp1 NA18522.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0004 a0004c0004t0005 a0002c0002t0004 a0004c0004t0005	a0002c0002t0004g0035 a0004c0004t0005g0009 a0002c0002t0004g0035 a0004c0004t0005g0009	2	50	0.0400	14	c.109 others(33): Show c.109+34992_109+34993insCTTTTTTCTTTTTT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DHTKD1_chr10_12063954_12128221	12100287	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03195.hp2 HG02717.hp1 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0019 a0002c0002 a0002c0019	a0002c0002t0002 a0002c0019t0002 a0002c0002t0002 a0002c0019t0002	a0002c0002t0002g0110 a0002c0019t0002g0115 a0002c0002t0002g0110 a0002c0019t0002g0115	2	374	0.0054	14	c.175 others(29): Show c.1756+37_1756+38insGTTTTTTTTTTTTT	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
DHTKD1_chr10_12063954_12128221	12100287	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00609.hp2 others(41): Show HG00280.hp2 HG00423.hp1 HG00609.hp2 HG00639.hp2 HG00741.hp1 HG01071.hp2 HG01081.hp2 HG01192.hp1 HG01261.hp1 HG01515.hp1 HG01517.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02056.hp1 HG02083.hp2 HG02273.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02723.hp1 HG02818.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG04199.hp2 NA18944.hp1 NA18947.hp2 NA18954.hp1 NA18975.hp2 NA18977.hp2 NA18984.hp1 NA18993.hp2 NA19009.hp2 NA19057.hp1 NA19058.hp2 NA19070.hp1 NA19081.hp1 NA20129.hp1	a0003 a0004 a0008 a0003 a0004 a0008	a0003c0003 a0003c0011 a0003c0012 others(2): Show a0003c0003 a0003c0011 a0003c0012 a0004c0007 a0008c0025	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(12): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0003c0003t0006 a0003c0003t0007 a0003c0003t0010 a0003c0003t0028 a0003c0003t0029 a0003c0011t0002 a0003c0012t0013 a0004c0007t0002 a0004c0007t0006 a0004c0007t0007 a0008c0025t0002	a0003c0003t0001g0183 a0003c0003t0002g0013 a0003c0003t0002g0185 others(41): Show a0003c0003t0001g0183 a0003c0003t0002g0013 a0003c0003t0002g0185 a0003c0003t0002g0190 a0003c0003t0002g0192 a0003c0003t0002g0194 a0003c0003t0002g0195 a0003c0003t0002g0198 a0003c0003t0002g0200 a0003c0003t0002g0201 a0003c0003t0002g0213 a0003c0003t0002g0232 a0003c0003t0002g0235 a0003c0003t0002g0240 a0003c0003t0002g0250 a0003c0003t0003g0186 a0003c0003t0003g0188 a0003c0003t0003g0212 a0003c0003t0003g0233 a0003c0003t0003g0353 a0003c0003t0005g0144 a0003c0003t0006g0153 a0003c0003t0006g0159 a0003c0003t0006g0216 a0003c0003t0007g0087 a0003c0003t0007g0147 a0003c0003t0007g0148 a0003c0003t0007g0218 a0003c0003t0007g0364 a0003c0003t0007g0365 a0003c0003t0010g0187 a0003c0003t0010g0189 a0003c0003t0010g0196 a0003c0003t0010g0223 a0003c0003t0028g0215 a0003c0003t0029g0217 a0003c0011t0002g0145 a0003c0011t0002g0176 a0003c0012t0013g0236 a0004c0007t0002g0221 a0004c0007t0006g0244 a0004c0007t0007g0252 a0004c0007t0007g0253 a0008c0025t0002g0175	44	374	0.1177	14	c.175 others(29): Show c.1756+26_1756+39dupTTTTTTTTTTTTTT	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
DHTKD1_chr10_12063954_12128221	12103491	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02056.hp2 HG03710.hp2 HG01433.hp1 HG02056.hp2 HG03710.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0003 a0003c0004t0001 a0003c0004t0008 a0002c0002t0003 a0003c0004t0001 a0003c0004t0008	a0002c0002t0003g0063 a0003c0004t0001g0156 a0003c0004t0008g0166 a0002c0002t0003g0063 a0003c0004t0001g0156 a0003c0004t0008g0166	3	374	0.0080	14	c.189 others(33): Show c.1896+2334_1896+2347dupGTGTGTGTGTGTGT	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
DHTKD1_chr10_12063954_12128221	12127557	G G	GACACCCC others(7): Show GACACCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	374	0.0027	14	c.66 others(25): Show c.6669_*6670insACACCCCCCCCCCC	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding		4337		chr10	TogoVar
DHTKD1_chr10_12063954_12128221	12127557	G G	GCACCCCA others(7): Show GCACCCCACCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0154 a0001c0001t0024g0154	1	374	0.0027	14	c.66 others(25): Show c.6669_*6670insCACCCCACCCCCCC	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding		4337		chr10	TogoVar
DHX15_chr4_24522475_24589554	24547903	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	374	0.0027	14	c.124 others(31): Show c.1248+938_1248+951dupTATATATATATATA	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	6/13			chr4	TogoVar
DHX15_chr4_24522475_24589554	24550094	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02602.hp1 NA18954.hp2 others(2): Show HG01123.hp2 HG02602.hp1 NA18954.hp2 NA19000.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0056 a0001c0001t0001g0149 others(2): Show a0001c0001t0001g0033 a0001c0001t0001g0056 a0001c0001t0001g0149 a0001c0001t0001g0344 a0001c0001t0001g0345	5	374	0.0134	14	c.108 others(33): Show c.1081-1086_1081-1073dupTTTTTTTTTTTTTT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	5/13			chr4	TogoVar
DHX15_chr4_24522475_24589554	24574205	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02258.hp1 HG02280.hp2 others(6): Show HG01106.hp2 HG02258.hp1 HG02280.hp2 HG02572.hp1 HG02922.hp2 HG03139.hp1 HG03195.hp2 HG03579.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0109 a0001c0001t0001g0110 others(6): Show a0001c0001t0001g0047 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0146 a0001c0001t0001g0169 a0001c0001t0001g0340	9	374	0.0241	14	c.507 others(31): Show c.507+2024_507+2037dupTTTTTTTTTTTTTT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	2/13			chr4	TogoVar
DHX30_chr3_47798138_47855193	47821659	C C	CGCAATGT others(7): Show CGCAATGTCGGCTTA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	266	0.0038	14	c.124 others(31): Show c.124+3554_124+3555insTAGCAATGTCGGCT	DHX30	ENSG00000132153.15	transcript	ENST00000445061.6	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
DHX30_chr3_47798138_47855193	47829287	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02886.hp2 HG02723.hp1 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0156 a0001c0002t0001g0157	2	266	0.0075	14	c.366 others(29): Show c.366+168_366+181dupATATATATATATAT	DHX30	ENSG00000132153.15	transcript	ENST00000445061.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
DHX35_chr20_38957344_39044721	39036726	C C	CCAAAAAA others(7): Show CCAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	290	0.0035	14	c.206 others(33): Show c.2068-1773_2068-1772insCAAAAAAAAAAAAA	DHX35	ENSG00000101452.15	transcript	ENST00000252011.8	protein_coding	21/21			chr20	TogoVar
DHX36_chr3_154267546_154329487	154312852	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	366	0.0027	14	c.604 others(31): Show c.604-1192_604-1179dupATATATATATATAT	DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	3/24			chr3	TogoVar
DHX36_chr3_154267546_154329487	154312900	T T	TATATATA others(7): Show TATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02040.hp1 HG02300.hp2 others(2): Show HG01099.hp2 HG02040.hp1 HG02300.hp2 NA18984.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 others(2): Show a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224	5	366	0.0137	14	c.604 others(31): Show c.604-1227_604-1226insTTATATATATATAT	DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	3/24			chr3	TogoVar
DHX37_chr12_124941826_124994131	124983418	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp1 HG01071.hp1 others(47): Show HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG02015.hp1 HG02071.hp1 HG02129.hp2 HG02165.hp1 HG02300.hp1 HG02602.hp1 HG02683.hp2 HG02735.hp2 HG03239.hp2 HG03654.hp2 HG03831.hp2 HG03927.hp2 NA18747.hp1 NA18946.hp1 NA18950.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18981.hp2 NA18984.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19056.hp1 NA19063.hp1 NA19074.hp2 NA19083.hp2 NA19085.hp1 NA19090.hp2 NA20905.hp2	a0001 a0003 a0006 others(6): Show a0001 a0003 a0006 a0007 a0013 a0014 a0024 a0025 a0026	a0001c0001 a0001c0002 a0001c0015 others(11): Show a0001c0001 a0001c0002 a0001c0015 a0001c0054 a0003c0007 a0003c0010 a0003c0012 a0006c0019 a0007c0018 a0013c0031 a0014c0029 a0024c0055 a0025c0052 a0026c0049	a0001c0001t0001 a0001c0002t0002 a0001c0002t0013 others(13): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0013 a0001c0002t0017 a0001c0015t0003 a0001c0054t0001 a0003c0007t0001 a0003c0010t0003 a0003c0012t0001 a0006c0019t0001 a0007c0018t0001 a0013c0031t0001 a0014c0029t0001 a0024c0055t0001 a0025c0052t0001 a0026c0049t0003	a0001c0001t0001g0010 a0001c0001t0001g0175 a0001c0001t0001g0176 others(45): Show a0001c0001t0001g0010 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0214 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0260 a0001c0002t0002g0158 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0240 a0001c0002t0002g0283 a0001c0002t0013g0225 a0001c0002t0017g0220 a0001c0015t0003g0236 a0001c0015t0003g0247 a0001c0054t0001g0227 a0003c0007t0001g0217 a0003c0007t0001g0235 a0003c0007t0001g0258 a0003c0007t0001g0341 a0003c0010t0003g0011 a0003c0010t0003g0224 a0003c0010t0003g0228 a0003c0010t0003g0229 a0003c0010t0003g0233 a0003c0010t0003g0259 a0003c0012t0001g0138 a0003c0012t0001g0139 a0003c0012t0001g0221 a0006c0019t0001g0241 a0006c0019t0001g0243 a0006c0019t0001g0244 a0006c0019t0001g0245 a0007c0018t0001g0174 a0013c0031t0001g0215 a0013c0031t0001g0242 a0014c0029t0001g0222 a0014c0029t0001g0223 a0024c0055t0001g0261 a0025c0052t0001g0246 a0026c0049t0003g0216	50	370	0.1351	14	c.277 others(29): Show c.277-809_277-796dupGTGTGTGTGTGTGT	DHX37	ENSG00000150990.9	transcript	ENST00000308736.7	protein_coding	2/26			chr12	TogoVar
DHX37_chr12_124941826_124994131	124990211	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01361.hp1 HG02071.hp1 others(10): Show HG00609.hp2 HG01361.hp1 HG02071.hp1 HG02080.hp1 HG02647.hp2 HG02809.hp2 HG03540.hp1 NA18612.hp2 NA18966.hp1 NA18979.hp1 NA19009.hp1 NA19067.hp1 NA19083.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0003 a0002c0004 a0002c0011 others(6): Show a0002c0003 a0002c0004 a0002c0011 a0002c0013 a0002c0035 a0003c0007 a0004c0006 a0004c0008 a0004c0028	a0002c0003t0001 a0002c0004t0002 a0002c0011t0006 others(6): Show a0002c0003t0001 a0002c0004t0002 a0002c0011t0006 a0002c0013t0003 a0002c0035t0001 a0003c0007t0001 a0004c0006t0002 a0004c0008t0003 a0004c0028t0001	a0002c0003t0001g0315 a0002c0003t0001g0319 a0002c0003t0001g0329 others(10): Show a0002c0003t0001g0315 a0002c0003t0001g0319 a0002c0003t0001g0329 a0002c0003t0001g0332 a0002c0004t0002g0312 a0002c0011t0006g0345 a0002c0013t0003g0325 a0002c0035t0001g0314 a0003c0007t0001g0341 a0004c0006t0002g0317 a0004c0008t0003g0307 a0004c0008t0003g0308 a0004c0028t0001g0335	13	370	0.0351	14	c.-11 others(25): Show c.-1190_-1189insAAAAAAAAAAAAAA	DHX37	ENSG00000150990.9	transcript	ENST00000308736.7	protein_coding		1081		chr12	TogoVar
DHX40_chr17_59560610_59613345	59585782	T T	TTTCTCTA others(7): Show TTTCTCTATTAATAC	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA19090.hp1 NA18978.hp1 NA19090.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0143 a0001c0006t0001g0144 a0001c0006t0001g0143 a0001c0006t0001g0144	2	324	0.0062	14	c.134 others(31): Show c.1344-364_1344-363insTTAATACTTCTCTA	DHX40	ENSG00000108406.10	transcript	ENST00000251241.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHX57_chr2_38792729_38880934	38837611	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01361.hp2 HG01993.hp2 others(8): Show HG01106.hp1 HG01361.hp2 HG01993.hp2 HG02897.hp1 NA18952.hp1 NA18956.hp1 NA18982.hp1 NA18995.hp1 NA18997.hp2 NA19003.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0003 a0001c0001t0007 a0001c0003t0001 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0003t0001 a0001c0004t0003	a0001c0001t0003g0153 a0001c0001t0003g0168 a0001c0001t0003g0169 others(8): Show a0001c0001t0003g0153 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0185 a0001c0001t0007g0273 a0001c0003t0001g0173 a0001c0004t0003g0190	11	284	0.0387	14	c.254 others(31): Show c.2542+219_2542+220insTTTTTTTTTTTTTT	DHX57	ENSG00000163214.21	transcript	ENST00000457308.6	protein_coding	13/23			chr2	TogoVar
DHX8_chr17_43478975_43530670	43511456	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00733.hp2 others(89): Show HG00140.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01256.hp1 HG01261.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp2 HG01975.hp2 HG01993.hp1 HG02040.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02486.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03239.hp1 HG03491.hp1 HG03491.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03834.hp1 HG06807.hp2 NA18939.hp1 NA18945.hp2 NA18957.hp2 NA18965.hp1 NA18966.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18987.hp2 NA18990.hp2 NA19001.hp2 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19067.hp1 NA19076.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19089.hp2 NA19091.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0006t0007	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(66): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0216 a0001c0001t0001g0261 a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0001t0002g0102 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0003g0006 a0001c0001t0003g0029 a0001c0001t0003g0035 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0275 a0001c0001t0005g0131 a0001c0001t0005g0198 a0001c0001t0007g0004 a0001c0001t0007g0026 a0001c0001t0007g0178 a0001c0001t0007g0180 a0001c0001t0009g0045 a0001c0001t0009g0082 a0001c0001t0009g0085 a0001c0006t0007g0175	92	354	0.2599	14	c.250 others(33): Show c.2503-1900_2503-1887dupTTTTTTTTTTTTTT	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(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02155.hp2 HG02258.hp2 others(13): Show HG01884.hp2 HG02155.hp2 HG02258.hp2 HG02486.hp1 HG02572.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03579.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0061 others(9): Show a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0061 a0001c0002t0001g0130 a0001c0002t0001g0152 a0001c0002t0001g0187 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0206	16	276	0.0580	14	c.155 others(33): Show c.1557+1478_1557+1491dupTTTTTTTTTTTTTT	DHX9	ENSG00000135829.17	transcript	ENST00000367549.4	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIABLO_chr12_122202668_122231052	122211077	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0056	1	380	0.0026	14	c.524 others(31): Show c.524-2514_524-2501dupTTTTTTTTTTTTTT	DIABLO	ENSG00000184047.21	transcript	ENST00000464942.7	protein_coding	5/5			chr12	TogoVar
DIAPH1_chr5_141510021_141624000	141591695	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01099.hp1 HG01168.hp1 others(7): Show HG00733.hp2 HG01099.hp1 HG01168.hp1 HG02258.hp2 HG02486.hp1 HG02809.hp2 HG03041.hp2 HG03540.hp2 HG03831.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0002t0003	a0001c0001t0001g0251 a0001c0001t0002g0129 a0001c0001t0002g0130 others(7): Show a0001c0001t0001g0251 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0167 a0001c0001t0004g0117 a0001c0001t0008g0305 a0001c0002t0003g0156 a0001c0002t0003g0163	10	336	0.0298	14	c.118 others(31): Show c.118-3459_118-3446dupATATATATATATAT	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH2_chrX_96679842_97609997	96775353	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp1 HG02132.hp1 others(2): Show HG01074.hp1 HG01081.hp1 HG02132.hp1 HG02300.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0002g0032 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0002g0032 a0001c0001t0002g0043 a0001c0001t0002g0045	5	147	0.0340	14	c.447 others(33): Show c.447+17121_447+17134dupGTGTGTGTGTGTGT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96807944	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0101 a0001c0001t0007g0101	1	147	0.0068	14	c.447 others(33): Show c.447+49712_447+49725dupAAAAAAAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96823935	C C	CATATATA others(7): Show CATATATAAAGAAAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp1 HG00738.hp1 others(100): Show HG00609.hp1 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp1 NA18971.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19043.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19091.hp1 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0006 a0003c0008 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0002t0001 a0001c0002t0004 a0001c0002t0021 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0005t0001 a0001c0007t0005 a0002c0006t0001 a0003c0008t0002 a0004c0010t0001	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0026 others(100): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0002g0022 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0110 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0003g0006 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0107 a0001c0001t0004g0108 a0001c0001t0004g0137 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0006g0005 a0001c0001t0006g0056 a0001c0001t0008g0021 a0001c0001t0010g0094 a0001c0001t0011g0001 a0001c0001t0011g0002 a0001c0001t0012g0003 a0001c0001t0012g0143 a0001c0001t0013g0141 a0001c0001t0016g0125 a0001c0001t0017g0086 a0001c0001t0018g0083 a0001c0001t0022g0112 a0001c0001t0023g0070 a0001c0002t0001g0015 a0001c0002t0004g0013 a0001c0002t0021g0076 a0001c0003t0001g0136 a0001c0003t0003g0081 a0001c0003t0003g0145 a0001c0004t0001g0140 a0001c0005t0001g0061 a0001c0007t0005g0131 a0002c0006t0001g0130 a0003c0008t0002g0097 a0004c0010t0001g0016	103	147	0.7007	14	c.448 others(33): Show c.448-57640_448-57627dupTATAAAGAAATATA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96836685	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0083 a0001c0001t0018g0083	1	147	0.0068	14	c.448 others(33): Show c.448-44874_448-44861dupATATATATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96837433	C C	CTCTCTCT others(7): Show CTCTCTCTCTGTGTG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	147	0.0068	14	c.448 others(33): Show c.448-44145_448-44144insCTCTCTCTGTGTGT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96962310	T T	TACATATA others(7): Show TACATATATATATAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02717.hp1 NA18906.hp2 HG02257.hp2 HG02717.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0021 a0001c0002t0001 a0001c0002t0004 a0001c0002t0021	a0001c0002t0001g0015 a0001c0002t0004g0013 a0001c0002t0021g0076 a0001c0002t0001g0015 a0001c0002t0004g0013 a0001c0002t0021g0076	3	147	0.0204	14	c.193 others(33): Show c.1936-2767_1936-2754dupCATATATATATACA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	16/26		INFO_REALIGN_3_PRIME	chrX	TogoVar

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