JoGo: Joint Open Genome and Omics Platform

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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DPYD_chr1_97072743_97926034	97242122	GTGTATAT others(11): Show GTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02895.hp1 HG02976.hp2 HG02004.hp2 HG02895.hp1 HG02976.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0004c0004 a0009c0013 a0001c0001 a0004c0004 a0009c0013	a0001c0001t0001 a0004c0004t0001 a0009c0013t0004 a0001c0001t0001 a0004c0004t0001 a0009c0013t0004	a0001c0001t0001g0044 a0004c0004t0001g0002 a0009c0013t0004g0020 a0001c0001t0001g0044 a0004c0004t0001g0002 a0009c0013t0004g0020	3	52	0.0577	-18	c.230 others(37): Show c.2300-7146_2300-7129delTATATATATATATATACA		DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	18/22						chr1	TogoVar
DPYD_chr1_97072743_97926034	97385280	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0038 a0007c0008t0002g0038	1	52	0.0192	-18	c.190 others(37): Show c.1906-2837_1906-2820delTTTTTTTTTTTTTTTTTT		DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	14/22						chr1	TogoVar
DPYD_chr1_97072743_97926034	97586465	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	52	0.0192	-18	c.112 others(37): Show c.1128+6735_1128+6752delATATATATATATATATAT		DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	10/22						chr1	TogoVar
DPYD_chr1_97072743_97926034	97893429	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	52	0.0192	-18	c.40- others(35): Show c.40-10073_40-10056delATATATATATATATATAT		DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	1/22						chr1	TogoVar
DPYSL3_chr5_147385808_147515068	147452881	GCACACAC others(11): Show GCACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG04199.hp1 HG03710.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0097 a0001c0001t0002g0098	2	298	0.0067	-18	c.382 others(37): Show c.382-27936_382-27919delTGTGTGTGTGTGTGTGTG		DPYSL3	ENSG00000113657.13	transcript	ENST00000343218.10	protein_coding	1/13						chr5	TogoVar
DPYSL5_chr2_26843132_26955351	26932121	AAGAGAAA others(11): Show AAGAGAAAGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0011 a0001c0004t0003g0011	1	232	0.0043	-18	c.714 others(33): Show c.714+439_714+456delGAGAAAGAAAGAAAGAGA		DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYS_chr8_104374431_104472055	104440118	AAAGAGAT others(11): Show AAAGAGATTAAAATACTAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00738.hp1 others(11): Show HG00280.hp2 HG00558.hp1 HG00738.hp1 HG01167.hp1 HG02040.hp1 HG02895.hp1 HG02897.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp2 NA18969.hp1 NA18986.hp1 NA18997.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0009t0001	a0001c0001t0001g0006 a0001c0001t0001g0051 a0001c0001t0001g0052 others(10): Show a0001c0001t0001g0006 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0002g0261 a0001c0002t0001g0167 a0001c0009t0001g0057 a0001c0009t0001g0058	14	380	0.0368	-18	c.793 others(35): Show c.793+4112_793+4129delGTAGTATTTTAATCTCTT		DPYS	ENSG00000147647.13	transcript	ENST00000351513.7	protein_coding	4/9						chr8	TogoVar
DRAM1_chr12_101872580_101928612	101874015	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	396	0.0025	-18	c.-37 others(29): Show c.-3774_-3757delTTTTTTTTTTTTTTTTTT		DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding					3564		chr12	TogoVar
DRAM1_chr12_101872580_101928612	101904426	GGTTTTTT others(11): Show GGTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0359 a0001c0001t0004g0359	1	396	0.0025	-18	c.342 others(35): Show c.342+2994_342+3011delGTTTTTTTTTTTTTTTTT		DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	3/6						chr12	TogoVar
DRC1_chr2_26396920_26461711	26420372	CCTGCCTC others(11): Show CCTGCCTCACTGTCATTAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00544.hp1 others(67): Show HG00280.hp1 HG00438.hp2 HG00544.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01123.hp2 HG01168.hp1 HG01192.hp1 HG01255.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02165.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp2 HG02615.hp2 HG02698.hp1 HG02717.hp2 HG02976.hp2 HG03453.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18612.hp2 NA18940.hp1 NA18946.hp2 NA18954.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18979.hp1 NA18980.hp1 NA18991.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19054.hp2 NA19057.hp1 NA19058.hp2 NA19067.hp2 NA19075.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA20805.hp2 NA20905.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0010 a0018	a0001c0001 a0004c0003 a0005c0006 others(2): Show a0001c0001 a0004c0003 a0005c0006 a0010c0013 a0018c0023	a0001c0001t0001 a0001c0001t0003 a0004c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0004c0003t0001 a0005c0006t0001 a0010c0013t0001 a0018c0023t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0077 others(67): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0077 a0001c0001t0001g0089 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0225 a0001c0001t0001g0253 a0001c0001t0001g0315 a0001c0001t0001g0330 a0001c0001t0003g0209 a0001c0001t0003g0220 a0004c0003t0001g0012 a0004c0003t0001g0045 a0004c0003t0001g0049 a0004c0003t0001g0058 a0004c0003t0001g0088 a0004c0003t0001g0193 a0004c0003t0001g0194 a0004c0003t0001g0197 a0004c0003t0001g0200 a0004c0003t0001g0201 a0004c0003t0001g0202 a0004c0003t0001g0206 a0004c0003t0001g0207 a0004c0003t0001g0214 a0004c0003t0001g0215 a0004c0003t0001g0216 a0004c0003t0001g0217 a0004c0003t0001g0218 a0004c0003t0001g0219 a0004c0003t0001g0221 a0004c0003t0001g0222 a0004c0003t0001g0227 a0004c0003t0001g0228 a0004c0003t0001g0229 a0004c0003t0001g0230 a0004c0003t0001g0231 a0004c0003t0001g0232 a0004c0003t0001g0233 a0004c0003t0001g0234 a0004c0003t0001g0236 a0004c0003t0001g0242 a0004c0003t0001g0244 a0004c0003t0001g0249 a0004c0003t0001g0252 a0004c0003t0001g0255 a0004c0003t0001g0256 a0004c0003t0001g0273 a0004c0003t0001g0322 a0005c0006t0001g0012 a0005c0006t0001g0226 a0005c0006t0001g0235 a0005c0006t0001g0237 a0005c0006t0001g0238 a0005c0006t0001g0239 a0005c0006t0001g0240 a0005c0006t0001g0241 a0005c0006t0001g0243 a0005c0006t0001g0245 a0005c0006t0001g0246 a0005c0006t0001g0247 a0005c0006t0001g0248 a0005c0006t0001g0254 a0010c0013t0001g0196 a0010c0013t0001g0199 a0010c0013t0001g0205 a0010c0013t0001g0223 a0018c0023t0001g0198	70	384	0.1823	-18	c.244 others(33): Show c.244-880_244-863delTCTGCCTCACTGTCATTA		DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26429182	GATGATTA others(11): Show GATGATTATTATTATTATT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01934.hp1 HG02559.hp1 others(2): Show HG01109.hp1 HG01934.hp1 HG02559.hp1 HG03239.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0003c0005 a0001c0001 a0003c0004 a0003c0005	a0001c0001t0001 a0003c0004t0001 a0003c0004t0003 others(1): Show a0001c0001t0001 a0003c0004t0001 a0003c0004t0003 a0003c0005t0001	a0001c0001t0001g0059 a0003c0004t0001g0029 a0003c0004t0003g0025 others(2): Show a0001c0001t0001g0059 a0003c0004t0001g0029 a0003c0004t0003g0025 a0003c0005t0001g0054 a0003c0005t0001g0063	5	384	0.0130	-18	c.541 others(33): Show c.541-443_541-426delGATTATTATTATTATTAT		DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26429185	GATTATTA others(11): Show GATTATTATTATTATTATT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0121 a0002c0002t0001g0118 a0002c0002t0001g0121	2	384	0.0052	-18	c.541 others(33): Show c.541-412_541-395delATTATTATTATTATTATT		DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC3_chr17_17967862_18021889	17978688	CCAGGGCT others(11): Show CCAGGGCTGACCACCCAAT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	324	0.0031	-18	c.160 others(33): Show c.160+936_160+953delCTGACCACCCAATCAGGG		DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
DRD3_chr3_114122580_114184052	114156725	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00733.hp2 HG01070.hp1 others(49): Show HG00597.hp1 HG00733.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01256.hp1 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02027.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03669.hp1 HG03704.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 NA18906.hp2 NA18946.hp1 NA18962.hp2 NA18964.hp2 NA18970.hp2 NA18986.hp2 NA19006.hp1 NA19011.hp1 NA19056.hp2 NA19062.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19085.hp1 NA19240.hp1 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0002c0001	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(12): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0003t0001 a0001c0003t0005 a0001c0003t0006 a0001c0004t0001 a0001c0009t0013 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0010 a0002c0001t0011 a0002c0001t0012	a0001c0002t0001g0014 a0001c0002t0001g0054 a0001c0002t0001g0056 others(45): Show a0001c0002t0001g0014 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0066 a0001c0002t0001g0222 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0003g0005 a0001c0002t0003g0058 a0001c0002t0004g0015 a0001c0002t0004g0257 a0001c0002t0004g0311 a0001c0002t0004g0324 a0001c0002t0004g0328 a0001c0002t0004g0333 a0001c0002t0007g0003 a0001c0002t0007g0039 a0001c0003t0001g0314 a0001c0003t0005g0023 a0001c0003t0005g0026 a0001c0003t0006g0020 a0001c0004t0001g0208 a0001c0004t0001g0230 a0001c0009t0013g0341 a0002c0001t0001g0091 a0002c0001t0001g0092 a0002c0001t0001g0093 a0002c0001t0001g0160 a0002c0001t0001g0168 a0002c0001t0001g0191 a0002c0001t0001g0315 a0002c0001t0002g0071 a0002c0001t0002g0078 a0002c0001t0002g0085 a0002c0001t0002g0094 a0002c0001t0002g0116 a0002c0001t0002g0139 a0002c0001t0002g0141 a0002c0001t0002g0142 a0002c0001t0002g0161 a0002c0001t0002g0178 a0002c0001t0002g0210 a0002c0001t0002g0212 a0002c0001t0003g0140 a0002c0001t0010g0018 a0002c0001t0011g0038 a0002c0001t0012g0154	52	360	0.1444	-18	c.383 others(35): Show c.383+3012_383+3029delAAGAAAGAAAGAAAGAAA		DRD3	ENSG00000151577.14	transcript	ENST00000383673.5	protein_coding	3/6						chr3	TogoVar
DRICH1_chr22_23603452_23637321	23605610	GCCCCTGC others(11): Show GCCCCTGCCTCCATTCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	446	0.0022	-18	c.31 others(29): Show c.3136_*3153delTGGGAATGGAGGCAGGGG		DRICH1	ENSG00000189269.13	transcript	ENST00000317749.9	protein_coding					2841		chr22	TogoVar
DROSHA_chr5_31395494_31537093	31436741	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01168.hp1 HG01358.hp1 others(2): Show HG01106.hp1 HG01168.hp1 HG01358.hp1 HG02615.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0005g0320 others(2): Show a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0005g0321 a0001c0002t0001g0204	5	322	0.0155	-18	c.294 others(35): Show c.2942+480_2942+497delGTGTGTGTGTGTGTGTGT		DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	24/35						chr5	TogoVar
DROSHA_chr5_31395494_31537093	31480178	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0269 a0002c0005t0001g0269	1	322	0.0031	-18	c.207 others(37): Show c.2071+3358_2071+3375delTATATATATATATATATA		DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	16/35						chr5	TogoVar
DROSHA_chr5_31395494_31537093	31529722	CAAAAAAA others(11): Show CAAAAAAACAAACAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0231 a0001c0003t0003g0231	1	322	0.0031	-18	c.-46 others(33): Show c.-46-635_-46-618delTTTTTTGTTTGTTTTTTT		DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	3/35						chr5	TogoVar
DSC2_chr18_31053840_31107421	31074421	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0076 a0002c0002t0076	a0002c0002t0076g0301 a0002c0002t0076g0301	1	380	0.0026	-18	c.188 others(35): Show c.1888+244_1888+261delCACACACACACACACACA		DSC2	ENSG00000134755.18	transcript	ENST00000280904.11	protein_coding	12/15						chr18	TogoVar
DSC2_chr18_31053840_31107421	31083335	GCGAGGCA others(11): Show GCGAGGCAGGAGAATCACA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp2 others(113): Show HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp1 HG01346.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02148.hp1 HG02273.hp1 HG02300.hp1 HG02486.hp1 HG02698.hp2 HG02818.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp1 HG03195.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18953.hp1 NA18955.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18970.hp2 NA18972.hp2 NA18974.hp1 NA18980.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19001.hp2 NA19006.hp2 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp1 NA19065.hp2 NA19068.hp1 NA19075.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0011	a0001c0001 a0001c0003 a0004c0005 others(2): Show a0001c0001 a0001c0003 a0004c0005 a0005c0006 a0011c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0019 a0001c0001t0044 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0071 a0001c0001t0072 a0001c0001t0075 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0010 a0001c0003t0015 a0004c0005t0045 a0005c0006t0001 a0011c0014t0015	a0001c0001t0001g0007 a0001c0001t0001g0049 a0001c0001t0001g0075 others(83): Show a0001c0001t0001g0007 a0001c0001t0001g0049 a0001c0001t0001g0075 a0001c0001t0001g0100 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0246 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0182 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0200 a0001c0001t0002g0222 a0001c0001t0002g0245 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0255 a0001c0001t0002g0262 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0270 a0001c0001t0002g0278 a0001c0001t0005g0257 a0001c0001t0008g0247 a0001c0001t0013g0033 a0001c0001t0013g0036 a0001c0001t0013g0151 a0001c0001t0013g0253 a0001c0001t0019g0079 a0001c0001t0019g0254 a0001c0001t0044g0180 a0001c0001t0055g0252 a0001c0001t0056g0248 a0001c0001t0057g0263 a0001c0001t0058g0178 a0001c0001t0071g0179 a0001c0001t0072g0174 a0001c0001t0075g0155 a0001c0003t0001g0001 a0001c0003t0001g0012 a0001c0003t0001g0021 a0001c0003t0001g0024 a0001c0003t0001g0046 a0001c0003t0001g0050 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0165 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0173 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0264 a0001c0003t0002g0158 a0001c0003t0008g0004 a0001c0003t0008g0157 a0001c0003t0008g0159 a0001c0003t0010g0172 a0001c0003t0015g0022 a0001c0003t0015g0160 a0001c0003t0015g0164 a0001c0003t0015g0166 a0004c0005t0045g0298 a0005c0006t0001g0291 a0011c0014t0015g0218	116	380	0.3053	-18	c.943 others(33): Show c.943-293_943-276delTGTGATTCTCCTGCCTCG		DSC2	ENSG00000134755.18	transcript	ENST00000280904.11	protein_coding	7/15						chr18	TogoVar
DSCAML1_chr11_117422772_117802216	117484886	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01993.hp1 HG02071.hp2 others(15): Show HG00673.hp2 HG01993.hp1 HG02071.hp2 HG02083.hp1 HG02451.hp1 HG02486.hp1 HG03098.hp1 HG03225.hp1 HG03540.hp2 NA18960.hp2 NA18964.hp1 NA18966.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18989.hp1 NA19011.hp1 NA19012.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0005 a0001c0007 a0001c0008 others(10): Show a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0018 a0001c0023 a0002c0001 a0002c0004 a0002c0010 a0003c0041 a0004c0061 a0005c0031	a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 others(14): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0007t0001 a0001c0008t0001 a0001c0009t0003 a0001c0011t0004 a0001c0018t0001 a0001c0018t0002 a0001c0023t0001 a0002c0001t0001 a0002c0004t0001 a0002c0004t0004 a0002c0010t0002 a0003c0041t0001 a0004c0061t0002 a0005c0031t0002	a0001c0005t0001g0190 a0001c0005t0002g0144 a0001c0005t0003g0046 others(15): Show a0001c0005t0001g0190 a0001c0005t0002g0144 a0001c0005t0003g0046 a0001c0007t0001g0092 a0001c0008t0001g0167 a0001c0009t0003g0157 a0001c0011t0004g0064 a0001c0018t0001g0098 a0001c0018t0002g0087 a0001c0018t0002g0134 a0001c0023t0001g0062 a0002c0001t0001g0042 a0002c0004t0001g0113 a0002c0004t0004g0066 a0002c0010t0002g0048 a0003c0041t0001g0097 a0004c0061t0002g0106 a0005c0031t0002g0045	18	194	0.0928	-18	c.236 others(37): Show c.2360-2742_2360-2725delACACACACACACACACAC		DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	11/32						chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117512669	CACACACA others(11): Show CACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01515.hp1 HG02055.hp2 others(3): Show HG00738.hp1 HG01515.hp1 HG02055.hp2 HG03098.hp2 HG03486.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0024 a0002c0001 a0002c0002 others(2): Show a0001c0024 a0002c0001 a0002c0002 a0002c0006 a0002c0062	a0001c0024t0003 a0002c0001t0002 a0002c0001t0004 others(3): Show a0001c0024t0003 a0002c0001t0002 a0002c0001t0004 a0002c0002t0001 a0002c0006t0004 a0002c0062t0002	a0001c0024t0003g0073 a0002c0001t0002g0115 a0002c0001t0004g0082 others(3): Show a0001c0024t0003g0073 a0002c0001t0002g0115 a0002c0001t0004g0082 a0002c0002t0001g0056 a0002c0006t0004g0041 a0002c0062t0002g0117	6	194	0.0309	-18	c.178 others(37): Show c.1783+3780_1783+3797delATGTGTGTGTGTGTGTGT		DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	8/32						chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117537132	ACTCATAG others(11): Show ACTCATAGGGACATATGGT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00438.hp1 others(106): Show HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01884.hp2 HG01891.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02735.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18522.hp2 NA18906.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18994.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19063.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0005 a0001c0007 a0001c0008 others(43): Show a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0020 a0001c0021 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0035 a0001c0036 a0001c0051 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0002c0001 a0002c0002 a0002c0003 a0002c0004 a0002c0006 a0002c0010 a0002c0033 a0002c0057 a0002c0060 a0002c0062 a0002c0066 a0003c0038 a0003c0040 a0003c0041 a0003c0044 a0005c0031 a0006c0065	a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 others(73): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0007t0001 a0001c0007t0002 a0001c0008t0001 a0001c0008t0004 a0001c0009t0002 a0001c0011t0002 a0001c0011t0003 a0001c0011t0004 a0001c0012t0001 a0001c0012t0002 a0001c0012t0003 a0001c0014t0001 a0001c0014t0003 a0001c0014t0004 a0001c0015t0001 a0001c0015t0002 a0001c0015t0005 a0001c0016t0001 a0001c0016t0002 a0001c0017t0003 a0001c0018t0001 a0001c0018t0002 a0001c0020t0001 a0001c0020t0003 a0001c0021t0003 a0001c0023t0001 a0001c0024t0002 a0001c0025t0003 a0001c0025t0004 a0001c0026t0001 a0001c0027t0001 a0001c0028t0001 a0001c0028t0004 a0001c0029t0002 a0001c0030t0003 a0001c0030t0004 a0001c0035t0003 a0001c0036t0003 a0001c0051t0002 a0001c0052t0001 a0001c0053t0001 a0001c0054t0002 a0001c0055t0001 a0001c0056t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0006t0001 a0002c0006t0002 a0002c0006t0004 a0002c0010t0002 a0002c0010t0004 a0002c0033t0002 a0002c0057t0003 a0002c0060t0002 a0002c0062t0002 a0002c0066t0002 a0003c0038t0004 a0003c0040t0002 a0003c0041t0001 a0003c0044t0002 a0005c0031t0001 a0005c0031t0002 a0006c0065t0001	a0001c0005t0001g0084 a0001c0005t0001g0096 a0001c0005t0001g0099 others(106): Show a0001c0005t0001g0084 a0001c0005t0001g0096 a0001c0005t0001g0099 a0001c0005t0001g0190 a0001c0005t0002g0144 a0001c0005t0003g0046 a0001c0005t0003g0080 a0001c0005t0004g0023 a0001c0005t0004g0085 a0001c0007t0001g0092 a0001c0007t0001g0111 a0001c0007t0001g0112 a0001c0007t0001g0136 a0001c0007t0001g0138 a0001c0007t0001g0158 a0001c0007t0002g0140 a0001c0008t0001g0102 a0001c0008t0001g0114 a0001c0008t0001g0118 a0001c0008t0001g0137 a0001c0008t0001g0167 a0001c0008t0004g0100 a0001c0009t0002g0019 a0001c0011t0002g0007 a0001c0011t0002g0026 a0001c0011t0002g0174 a0001c0011t0003g0050 a0001c0011t0004g0064 a0001c0012t0001g0043 a0001c0012t0002g0060 a0001c0012t0002g0061 a0001c0012t0003g0094 a0001c0012t0003g0095 a0001c0014t0001g0071 a0001c0014t0001g0132 a0001c0014t0003g0178 a0001c0014t0004g0090 a0001c0014t0004g0143 a0001c0015t0001g0031 a0001c0015t0002g0038 a0001c0015t0005g0008 a0001c0016t0001g0044 a0001c0016t0001g0078 a0001c0016t0002g0147 a0001c0017t0003g0054 a0001c0018t0001g0098 a0001c0018t0002g0087 a0001c0018t0002g0134 a0001c0020t0001g0027 a0001c0020t0003g0021 a0001c0021t0003g0141 a0001c0021t0003g0145 a0001c0023t0001g0062 a0001c0024t0002g0036 a0001c0025t0003g0192 a0001c0025t0004g0053 a0001c0026t0001g0003 a0001c0027t0001g0012 a0001c0027t0001g0122 a0001c0028t0001g0067 a0001c0028t0004g0006 a0001c0029t0002g0029 a0001c0029t0002g0103 a0001c0030t0003g0183 a0001c0030t0004g0133 a0001c0035t0003g0170 a0001c0036t0003g0063 a0001c0051t0002g0010 a0001c0052t0001g0123 a0001c0053t0001g0024 a0001c0054t0002g0173 a0001c0055t0001g0105 a0001c0056t0001g0075 a0002c0001t0001g0072 a0002c0001t0001g0076 a0002c0001t0001g0126 a0002c0001t0002g0083 a0002c0001t0002g0115 a0002c0001t0002g0175 a0002c0001t0003g0119 a0002c0001t0004g0082 a0002c0001t0004g0139 a0002c0002t0001g0056 a0002c0002t0001g0162 a0002c0002t0002g0028 a0002c0002t0003g0194 a0002c0002t0004g0086 a0002c0003t0002g0169 a0002c0004t0001g0037 a0002c0004t0002g0005 a0002c0006t0001g0187 a0002c0006t0002g0093 a0002c0006t0004g0149 a0002c0006t0004g0150 a0002c0010t0002g0048 a0002c0010t0004g0058 a0002c0010t0004g0116 a0002c0033t0002g0104 a0002c0057t0003g0035 a0002c0060t0002g0193 a0002c0062t0002g0117 a0002c0066t0002g0070 a0003c0038t0004g0129 a0003c0040t0002g0014 a0003c0041t0001g0097 a0003c0044t0002g0030 a0005c0031t0001g0101 a0005c0031t0002g0045 a0006c0065t0001g0109	109	194	0.5619	-18	c.512 others(35): Show c.512-4628_512-4611delACCATATGTCCCTATGAG		DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32						chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117757573	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0059 a0002c0059	a0002c0059t0002 a0002c0059t0002	a0002c0059t0002g0040 a0002c0059t0002g0040	1	194	0.0052	-18	c.511 others(37): Show c.511+19200_511+19217delGTGTGTGTGTGTGTGTGT		DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32						chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117779203	TTAAGTTG others(11): Show TTAAGTTGAAAAGCTCTTC	T T	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0004 a0004	a0004c0061 a0004c0061	a0004c0061t0002 a0004c0061t0002	a0004c0061t0002g0106 a0004c0061t0002g0106	1	194	0.0052	-18	c.364 others(35): Show c.364+1272_364+1289delGAAGAGCTTTTCAACTTA		DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	2/32						chr11	TogoVar
DSPP_chr4_87603529_87621873	87614861	TAGCAGTG others(11): Show TAGCAGTGACAGCAGCAAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG01123.hp1 HG01192.hp1 others(7): Show HG00140.hp1 HG01123.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01515.hp2 HG02004.hp1 HG03654.hp1 NA20752.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0011 a0008c0009t0001g0011	10	450	0.0222	-18	c.221 others(27): Show c.2214_2231delCAACAGCAGTGACAGCAG	p.Asn others(13): Show p.Asn739_Ser744del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	2334/4331	2214/3906	738/1301		INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87614933	TAGCAGTG others(11): Show TAGCAGTGACAGCAGCAAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp2 HG02622.hp2 HG02647.hp1 others(5): Show HG02055.hp2 HG02622.hp2 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03516.hp2	a0014 a0030 a0014 a0030	a0014c0012 a0030c0028 a0014c0012 a0030c0028	a0014c0012t0001 a0030c0028t0001 a0014c0012t0001 a0030c0028t0001	a0014c0012t0001g0022 a0014c0012t0001g0080 a0030c0028t0001g0040 a0014c0012t0001g0022 a0014c0012t0001g0080 a0030c0028t0001g0040	8	450	0.0178	-18	c.228 others(27): Show c.2286_2303delCAACAGCAGTGACAGCAG	p.Asn others(13): Show p.Asn763_Ser768del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	2406/4331	2286/3906	762/1301		INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615161	CGATAGCA others(11): Show CGATAGCAGCAACAGCAGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02622.hp2 HG03516.hp2 HG02622.hp2 HG03516.hp2	a0030 a0030	a0030c0028 a0030c0028	a0030c0028t0001 a0030c0028t0001	a0030c0028t0001g0040 a0030c0028t0001g0040	2	450	0.0044	-18	c.250 others(27): Show c.2509_2526delAACAGCAGTGATAGCAGC	p.Asn others(13): Show p.Asn837_Ser842del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	2629/4331	2509/3906	837/1301		INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615611	CGATAGCA others(11): Show CGATAGCAGTGACAGCAGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp2 HG01167.hp1 HG01169.hp1 others(8): Show HG00639.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG02257.hp2 HG02451.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG03195.hp1 HG03209.hp2	a0012 a0018 a0044 a0012 a0018 a0044	a0012c0018 a0012c0040 a0018c0020 others(1): Show a0012c0018 a0012c0040 a0018c0020 a0044c0039	a0012c0018t0001 a0012c0040t0001 a0018c0020t0001 others(1): Show a0012c0018t0001 a0012c0040t0001 a0018c0020t0001 a0044c0039t0001	a0012c0018t0001g0014 a0012c0040t0001g0014 a0018c0020t0001g0013 others(1): Show a0012c0018t0001g0014 a0012c0040t0001g0014 a0018c0020t0001g0013 a0044c0039t0001g0014	11	450	0.0244	-18	c.297 others(27): Show c.2970_2987delTAGCAGTGACAGCAGTGA	p.Ser others(13): Show p.Ser991_Asp996del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3090/4331	2970/3906	990/1301		INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615716	TAGTGACA others(11): Show TAGTGACAGCAGCAATAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(216): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02647.hp2 HG02735.hp1 HG02922.hp2 HG03017.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp2 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(17): Show a0001 a0002 a0004 a0009 a0010 a0011 a0015 a0016 a0017 a0023 a0024 a0025 a0026 a0041 a0042 a0043 a0046 a0050 a0053 a0057	a0001c0001 a0002c0002 a0002c0043 others(23): Show a0001c0001 a0002c0002 a0002c0043 a0004c0005 a0004c0010 a0004c0011 a0004c0023 a0009c0016 a0009c0037 a0010c0022 a0010c0026 a0011c0013 a0015c0019 a0016c0017 a0017c0021 a0023c0027 a0024c0032 a0025c0029 a0026c0048 a0041c0062 a0042c0067 a0043c0046 a0046c0049 a0050c0045 a0053c0041 a0057c0074	a0001c0001t0001 a0002c0002t0001 a0002c0043t0001 others(23): Show a0001c0001t0001 a0002c0002t0001 a0002c0043t0001 a0004c0005t0001 a0004c0010t0001 a0004c0011t0001 a0004c0023t0001 a0009c0016t0001 a0009c0037t0001 a0010c0022t0001 a0010c0026t0001 a0011c0013t0001 a0015c0019t0001 a0016c0017t0001 a0017c0021t0002 a0023c0027t0001 a0024c0032t0001 a0025c0029t0001 a0026c0048t0002 a0041c0062t0003 a0042c0067t0001 a0043c0046t0001 a0046c0049t0001 a0050c0045t0001 a0053c0041t0001 a0057c0074t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0057 a0001c0001t0001g0061 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0028 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0043t0001g0003 a0004c0005t0001g0005 a0004c0005t0001g0007 a0004c0005t0001g0008 a0004c0005t0001g0027 a0004c0005t0001g0031 a0004c0005t0001g0049 a0004c0005t0001g0059 a0004c0005t0001g0060 a0004c0005t0001g0065 a0004c0010t0001g0005 a0004c0010t0001g0007 a0004c0011t0001g0005 a0004c0011t0001g0008 a0004c0011t0001g0050 a0004c0023t0001g0008 a0009c0016t0001g0035 a0009c0016t0001g0036 a0009c0016t0001g0062 a0009c0016t0001g0067 a0009c0016t0001g0068 a0009c0037t0001g0016 a0009c0037t0001g0018 a0010c0022t0001g0007 a0010c0026t0001g0007 a0011c0013t0001g0002 a0011c0013t0001g0009 a0011c0013t0001g0012 a0015c0019t0001g0003 a0016c0017t0001g0023 a0016c0017t0001g0055 a0017c0021t0002g0004 a0023c0027t0001g0027 a0024c0032t0001g0002 a0025c0029t0001g0002 a0025c0029t0001g0025 a0026c0048t0002g0004 a0041c0062t0003g0053 a0042c0067t0001g0005 a0043c0046t0001g0054 a0046c0049t0001g0002 a0050c0045t0001g0006 a0053c0041t0001g0003 a0057c0074t0001g0069	219	450	0.4867	-18	c.306 others(27): Show c.3069_3086delTAGCAGTGACAGCAGCAA	p.Ser others(15): Show p.Ser1024_Asn1029del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3189/4331	3069/3906	1023/1301		INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615731	TAGCAGTG others(11): Show TAGCAGTGACAGCAGCAAC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00738.hp2 HG00738.hp2	a0026 a0026	a0026c0053 a0026c0053	a0026c0053t0004 a0026c0053t0004	a0026c0053t0004g0019 a0026c0053t0004g0019	1	450	0.0022	-18	c.308 others(27): Show c.3085_3102delAACAGCAGTGACAGCAGC	p.Asn others(15): Show p.Asn1029_Ser1034del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3205/4331	3085/3906	1029/1301		INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615749	CAGCAGTG others(11): Show CAGCAGTGACAGCAGCGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02559.hp1 HG02572.hp1 HG02970.hp2 others(9): Show HG02559.hp1 HG02572.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp1 HG03209.hp1 HG03654.hp2 HG03831.hp2 HG04199.hp1 HG04204.hp1 NA19030.hp1 NA19240.hp2	a0020 a0022 a0032 others(3): Show a0020 a0022 a0032 a0033 a0034 a0040	a0020c0036 a0020c0068 a0020c0075 others(6): Show a0020c0036 a0020c0068 a0020c0075 a0022c0030 a0022c0058 a0032c0035 a0033c0059 a0034c0060 a0040c0061	a0020c0036t0001 a0020c0068t0001 a0020c0075t0001 others(6): Show a0020c0036t0001 a0020c0068t0001 a0020c0075t0001 a0022c0030t0002 a0022c0058t0002 a0032c0035t0001 a0033c0059t0001 a0034c0060t0001 a0040c0061t0001	a0020c0036t0001g0043 a0020c0036t0001g0046 a0020c0068t0001g0056 others(7): Show a0020c0036t0001g0043 a0020c0036t0001g0046 a0020c0068t0001g0056 a0020c0075t0001g0045 a0022c0030t0002g0034 a0022c0058t0002g0009 a0032c0035t0001g0030 a0033c0059t0001g0033 a0034c0060t0001g0033 a0040c0061t0001g0052	12	450	0.0267	-18	c.313 others(27): Show c.3138_3155delCGATAGCAGTGACAGCAG	p.Asp others(15): Show p.Asp1047_Ser1052del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3258/4331	3138/3906	1046/1301		INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87616274	TAGTGATA others(11): Show TAGTGATAGCAGTGACAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03139.hp1 HG03139.hp1	a0034 a0034	a0034c0060 a0034c0060	a0034c0060t0001 a0034c0060t0001	a0034c0060t0001g0033 a0034c0060t0001g0033	1	450	0.0022	-18	c.361 others(27): Show c.3618_3635delTAGCAGTGACAGCAGTGA	p.Ser others(15): Show p.Ser1207_Asp1212del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3738/4331	3618/3906	1206/1301		INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87616286	TGACAGCA others(11): Show TGACAGCAGTGACAGCAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01106.hp1 HG01891.hp1 HG02015.hp1 others(24): Show HG01106.hp1 HG01891.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02647.hp1 HG02698.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03688.hp2 HG03710.hp2 HG04228.hp1 NA18957.hp2 NA18970.hp1 NA18985.hp2 NA19043.hp1 NA19075.hp2 NA19085.hp2 NA19240.hp1 NA20129.hp2	a0013 a0014 a0015 others(4): Show a0013 a0014 a0015 a0016 a0024 a0029 a0039	a0013c0014 a0014c0012 a0015c0019 others(4): Show a0013c0014 a0014c0012 a0015c0019 a0016c0017 a0024c0032 a0029c0034 a0039c0052	a0013c0014t0001 a0014c0012t0001 a0015c0019t0001 others(4): Show a0013c0014t0001 a0014c0012t0001 a0015c0019t0001 a0016c0017t0001 a0024c0032t0001 a0029c0034t0001 a0039c0052t0002	a0013c0014t0001g0001 a0014c0012t0001g0022 a0014c0012t0001g0080 others(7): Show a0013c0014t0001g0001 a0014c0012t0001g0022 a0014c0012t0001g0080 a0015c0019t0001g0003 a0016c0017t0001g0023 a0016c0017t0001g0055 a0024c0032t0001g0002 a0029c0034t0001g0001 a0029c0034t0001g0010 a0039c0052t0002g0042	27	450	0.0600	-18	c.367 others(27): Show c.3677_3694delGCGACAGCAGTGACAGCA	p.Ser others(15): Show p.Ser1226_Ser1231del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3797/4331	3677/3906	1226/1301		INFO_REALIGN_3_PRIME	chr4	TogoVar
DSTYK_chr1_205137505_205216702	205176476	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02647.hp1 others(8): Show HG01884.hp2 HG02451.hp1 HG02647.hp1 HG02922.hp1 HG02970.hp1 HG03139.hp1 HG03471.hp2 HG03540.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0005 a0001c0016t0005 a0001c0002t0005 a0001c0016t0005	a0001c0002t0005g0008 a0001c0002t0005g0271 a0001c0002t0005g0272 others(7): Show a0001c0002t0005g0008 a0001c0002t0005g0271 a0001c0002t0005g0272 a0001c0002t0005g0273 a0001c0002t0005g0274 a0001c0002t0005g0275 a0001c0002t0005g0277 a0001c0002t0005g0278 a0001c0002t0005g0280 a0001c0016t0005g0276	11	348	0.0316	-18	c.655 others(35): Show c.655-6662_655-6645delTTTTTTTTTTTTTTTTTT		DSTYK	ENSG00000133059.18	transcript	ENST00000367162.8	protein_coding	2/12						chr1	TogoVar
DSTYK_chr1_205137505_205216702	205181656	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0148	1	348	0.0029	-18	c.654 others(35): Show c.654+5744_654+5761delCACACACACACACACACA		DSTYK	ENSG00000133059.18	transcript	ENST00000367162.8	protein_coding	2/12						chr1	TogoVar
DSTYK_chr1_205137505_205216702	205207755	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00609.hp1 others(79): Show HG00140.hp1 HG00544.hp1 HG00609.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp2 HG01243.hp2 HG01257.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02040.hp1 HG02071.hp1 HG02083.hp2 HG02132.hp1 HG02155.hp2 HG02273.hp1 HG02738.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03491.hp1 HG03540.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18747.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18949.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18961.hp1 NA18962.hp1 NA18968.hp1 NA18969.hp2 NA18973.hp1 NA18974.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18988.hp2 NA18995.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19074.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19088.hp2 NA19091.hp1 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0001 a0001c0002t0007 a0001c0002t0031 others(3): Show a0001c0002t0001 a0001c0002t0007 a0001c0002t0031 a0001c0002t0033 a0001c0002t0034 a0004c0005t0001	a0001c0002t0001g0006 a0001c0002t0001g0125 a0001c0002t0001g0130 others(77): Show a0001c0002t0001g0006 a0001c0002t0001g0125 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0007g0134 a0001c0002t0007g0174 a0001c0002t0007g0192 a0001c0002t0007g0194 a0001c0002t0031g0204 a0001c0002t0033g0143 a0001c0002t0034g0158 a0004c0005t0001g0007 a0004c0005t0001g0167 a0004c0005t0001g0169 a0004c0005t0001g0170 a0004c0005t0001g0172 a0004c0005t0001g0189	82	348	0.2356	-18	c.265 others(35): Show c.265+3498_265+3515delTTTTTTTTTTTTTTTTTT		DSTYK	ENSG00000133059.18	transcript	ENST00000367162.8	protein_coding	1/12						chr1	TogoVar
DST_chr6_56452996_56959830	56516137	GAGAGAGA others(11): Show GAGAGAGAGAGAAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG01069.hp2 others(12): Show HG00597.hp2 HG00621.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG02055.hp1 HG02056.hp2 HG02683.hp2 NA18983.hp1 NA19062.hp2 NA19066.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0011 a0017 others(4): Show a0001 a0011 a0017 a0022 a0029 a0040 a0045	a0001c0001 a0001c0005 a0011c0015 others(6): Show a0001c0001 a0001c0005 a0011c0015 a0011c0036 a0017c0023 a0022c0046 a0029c0026 a0040c0040 a0045c0038	a0001c0001t0001 a0001c0005t0001 a0011c0015t0001 others(6): Show a0001c0001t0001 a0001c0005t0001 a0011c0015t0001 a0011c0036t0001 a0017c0023t0001 a0022c0046t0001 a0029c0026t0001 a0040c0040t0001 a0045c0038t0001	a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0039 others(12): Show a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0084 a0001c0005t0001g0032 a0001c0005t0001g0080 a0011c0015t0001g0058 a0011c0036t0001g0047 a0017c0023t0001g0082 a0022c0046t0001g0029 a0029c0026t0001g0057 a0040c0040t0001g0036 a0045c0038t0001g0046	15	84	0.1786	-18	c.183 others(37): Show c.18358-487_18358-470delTTCTCTTTCTCTCTCTCT		DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	71/103						chr6	TogoVar
DST_chr6_56452996_56959830	56728973	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02615.hp2 others(3): Show HG02055.hp2 HG02451.hp1 HG02615.hp2 HG06807.hp2 NA19043.hp2 NA20129.hp1	a0009 a0020 a0024 others(2): Show a0009 a0020 a0024 a0025 a0048	a0009c0016 a0009c0056 a0020c0022 others(3): Show a0009c0016 a0009c0056 a0020c0022 a0024c0019 a0025c0020 a0048c0018	a0009c0016t0001 a0009c0056t0001 a0020c0022t0001 others(3): Show a0009c0016t0001 a0009c0056t0001 a0020c0022t0001 a0024c0019t0002 a0025c0020t0001 a0048c0018t0005	a0009c0016t0001g0060 a0009c0056t0001g0016 a0020c0022t0001g0027 others(3): Show a0009c0016t0001g0060 a0009c0056t0001g0016 a0020c0022t0001g0027 a0024c0019t0002g0074 a0025c0020t0001g0073 a0048c0018t0005g0044	6	84	0.0714	-18	c.687 others(35): Show c.687+6237_687+6254delGTGTGTGTGTGTGTGTGT		DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	5/103						chr6	TogoVar
DST_chr6_56452996_56959830	56793068	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp1 HG02280.hp2 HG02809.hp1	a0007 a0033 a0007 a0033	a0007c0008 a0033c0042 a0007c0008 a0033c0042	a0007c0008t0001 a0033c0042t0001 a0007c0008t0001 a0033c0042t0001	a0007c0008t0001g0052 a0033c0042t0001g0053 a0007c0008t0001g0052 a0033c0042t0001g0053	2	84	0.0238	-18	c.626 others(37): Show c.626-57797_626-57780delTTTTTTTTTTTTTTTTTT		DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	4/103						chr6	TogoVar
DTD1_chr20_18583054_18771644	18766755	AAAAAAAA others(11): Show AAAAAAAAAAAAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0099 a0001c0001t0031g0099	1	398	0.0025	-18	c.34 others(29): Show c.3416_*3433delAAAAAAAAAAAAAGAAAG		DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding					112		chr20	TogoVar
DTL_chr1_212030748_212110013	212051442	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG04115.hp1 NA19080.hp1 HG00738.hp1 HG04115.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0172 a0001c0001t0001g0233 a0001c0001t0001g0131 a0001c0001t0001g0172 a0001c0001t0001g0233	3	364	0.0082	-18	c.460 others(35): Show c.460+4052_460+4069delTTTTTTTTTTTTTTTTTT		DTL	ENSG00000143476.18	transcript	ENST00000366991.5	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
DTNA_chr18_34705298_34896844	34860220	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	112	0.0089	-18	c.164 others(37): Show c.1646+1834_1646+1851delTTTTTTTTTTTTTTTTTT		DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	16/22					INFO_REALIGN_3_PRIME	chr18	TogoVar
DTNBP1_chr6_15517807_15668028	15585064	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp2 HG02132.hp1 others(18): Show HG00280.hp1 HG00621.hp2 HG02132.hp1 HG02683.hp1 HG02818.hp1 HG02965.hp1 HG03041.hp2 HG03209.hp2 HG03490.hp2 HG03669.hp1 NA18612.hp2 NA18949.hp2 NA18972.hp1 NA18975.hp1 NA18982.hp2 NA18993.hp2 NA19007.hp1 NA19054.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0003c0003t0002	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 others(18): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0004g0290 a0001c0001t0006g0052 a0003c0003t0002g0190	21	314	0.0669	-18	c.511 others(35): Show c.511+7977_511+7994delATATATATATATATATAT		DTNBP1	ENSG00000047579.20	transcript	ENST00000344537.10	protein_coding	7/9						chr6	TogoVar
DTNB_chr2_25372243_25678577	25509482	CTGCAAAT others(11): Show CTGCAAATGTTTTTGTCTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG06807.hp2 NA19043.hp1 HG02717.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0018 a0001c0001t0003g0168 a0001c0002t0001g0019 a0001c0001t0001g0018 a0001c0001t0003g0168 a0001c0002t0001g0019	3	168	0.0179	-18	c.100 others(39): Show c.1001+21973_1001+21990delAAGACAAAAACATTTGCA		DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	9/20						chr2	TogoVar
DTWD2_chr5_118831074_118993547	118973606	CGCCTCCT others(11): Show CGCCTCCTTGCTCGCGGCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(154): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01891.hp1 HG01934.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18981.hp1 NA18981.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19030.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19084.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0030 a0001c0001t0035 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0002t0001 a0001c0002t0037 a0001c0004t0001 a0003c0005t0042	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(154): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0097 a0001c0001t0002g0107 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0160 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0168 a0001c0001t0004g0068 a0001c0001t0005g0151 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0157 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0006g0029 a0001c0001t0006g0059 a0001c0001t0006g0072 a0001c0001t0006g0075 a0001c0001t0006g0083 a0001c0001t0006g0091 a0001c0001t0006g0092 a0001c0001t0006g0093 a0001c0001t0007g0141 a0001c0001t0007g0208 a0001c0001t0007g0209 a0001c0001t0007g0210 a0001c0001t0007g0211 a0001c0001t0007g0213 a0001c0001t0007g0214 a0001c0001t0007g0215 a0001c0001t0009g0144 a0001c0001t0009g0147 a0001c0001t0009g0148 a0001c0001t0009g0149 a0001c0001t0009g0159 a0001c0001t0010g0027 a0001c0001t0010g0063 a0001c0001t0011g0040 a0001c0001t0011g0073 a0001c0001t0011g0080 a0001c0001t0011g0111 a0001c0001t0011g0112 a0001c0001t0013g0142 a0001c0001t0013g0218 a0001c0001t0013g0219 a0001c0001t0017g0140 a0001c0001t0017g0146 a0001c0001t0019g0023 a0001c0001t0019g0025 a0001c0001t0022g0082 a0001c0001t0023g0226 a0001c0001t0026g0212 a0001c0001t0030g0225 a0001c0001t0035g0207 a0001c0001t0038g0054 a0001c0001t0040g0084 a0001c0001t0041g0110 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0037g0002 a0001c0004t0001g0032 a0003c0005t0042g0241	157	242	0.6488	-18	c.218 others(37): Show c.218+14670_218+14687delTGCCGCGAGCAAGGAGGC		DTWD2	ENSG00000169570.10	transcript	ENST00000510708.6	protein_coding	1/5						chr5	TogoVar
DUOX1_chr15_45124994_45170574	45135391	AGCCGCGG others(11): Show AGCCGCGGACACCCGCCGG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	386	0.0026	-18	c.496 others(31): Show c.496-79_496-62delGCGGACACCCGCCGGGCC		DUOX1	ENSG00000137857.18	transcript	ENST00000389037.7	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr15	TogoVar
DUOX1_chr15_45124994_45170574	45153493	AATGTGTG others(11): Show AATGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01167.hp2 others(15): Show HG00099.hp1 HG00140.hp1 HG01167.hp2 HG01169.hp2 HG01256.hp2 HG01884.hp1 HG02257.hp1 HG02886.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp1 HG03516.hp2 HG04228.hp1 NA18906.hp2 NA19240.hp2	a0002 a0003 a0012 a0002 a0003 a0012	a0002c0005 a0003c0003 a0012c0024 a0002c0005 a0003c0003 a0012c0024	a0002c0005t0002 a0003c0003t0002 a0012c0024t0002 a0002c0005t0002 a0003c0003t0002 a0012c0024t0002	a0002c0005t0002g0004 a0002c0005t0002g0010 a0002c0005t0002g0099 others(11): Show a0002c0005t0002g0004 a0002c0005t0002g0010 a0002c0005t0002g0099 a0002c0005t0002g0144 a0002c0005t0002g0145 a0002c0005t0002g0146 a0002c0005t0002g0147 a0002c0005t0002g0148 a0003c0003t0002g0249 a0003c0003t0002g0250 a0003c0003t0002g0282 a0003c0003t0002g0297 a0003c0003t0002g0331 a0012c0024t0002g0143	18	386	0.0466	-18	c.352 others(33): Show c.3524+15_3524+32delATGTGTGTGTGTGTGTGT		DUOX1	ENSG00000137857.18	transcript	ENST00000389037.7	protein_coding	26/33						chr15	TogoVar
DUOX1_chr15_45124994_45170574	45153494	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01346.hp1 HG00738.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0323 a0001c0001t0001g0259 a0001c0001t0001g0323	2	386	0.0052	-18	c.352 others(33): Show c.3524+51_3524+68delGTGTGTGTGTGTGTGTGT		DUOX1	ENSG00000137857.18	transcript	ENST00000389037.7	protein_coding	26/33					INFO_REALIGN_3_PRIME	chr15	TogoVar
DUS2_chr16_68018284_68084320	68020811	ATACGTAT others(11): Show ATACGTATATATATGTATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG00738.hp1 others(36): Show HG00438.hp2 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01099.hp2 HG01169.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01975.hp1 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02132.hp2 HG02602.hp2 HG03098.hp2 HG03486.hp1 HG03491.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03942.hp1 HG04199.hp1 NA18941.hp1 NA18952.hp1 NA18953.hp2 NA18961.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18981.hp2 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19060.hp1 NA19064.hp1 NA19081.hp1 NA19090.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0014 others(34): Show a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052	39	234	0.1667	-18	c.-26 others(29): Show c.-2638_-2621delTACGTATATATATGTATG		DUS2	ENSG00000167264.18	transcript	ENST00000565263.6	protein_coding					2472		chr16	TogoVar

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