Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DDA1_chr19_17304563_17328298	17315114	CACACACG others(79): Show CACACACGTATATATACACACATATATATACACACACGTATATATACACA CGTGTATATACACACACGTGTATACACACACGTGTAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00544.hp2 others(36): Show HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00733.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01517.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02257.hp1 HG02523.hp2 HG02572.hp1 HG02818.hp2 HG02965.hp2 HG03471.hp2 NA18906.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18954.hp1 NA18959.hp1 NA18973.hp2 NA18980.hp2 NA18985.hp2 NA18986.hp1 NA18999.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19011.hp2 NA19079.hp1 NA19084.hp2 NA19085.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0024 a0001c0001t0026 a0001c0001t0005 a0001c0001t0024 a0001c0001t0026	a0001c0001t0005g0005 a0001c0001t0005g0011 a0001c0001t0005g0020 others(19): Show a0001c0001t0005g0005 a0001c0001t0005g0011 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0237 a0001c0001t0005g0238 a0001c0001t0005g0248 a0001c0001t0024g0195 a0001c0001t0026g0191	39	388	0.1005	-86	c.136 others(101): Show c.136+734_137-726delATATATACACACATATATATACACACACGT ATATATACACACGTGTATATACACACACGTGTATACACACACGTGTATAC ACACGT	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDA1_chr19_17304563_17328298	17315123	ATATATAC others(79): Show ATATATACACACATATATATACACACACGTATATATACACACGTGTATAT ACACACACGTGTATACACACACGTGTATACACACGTG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0217 a0001c0001t0007g0217	1	388	0.0026	-86	c.136 others(101): Show c.136+747_137-713delTATATATACACACACGTATATATACACACG TGTATATACACACACGTGTATACACACACGTGTATACACACGTGTATATA CACACA	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDX51_chr12_132131594_132149319	132149008	CCACACCC others(79): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0006 a0002c0002t0003g0006	1	334	0.0030	-86	c.-47 others(97): Show c.-4798_-4713delAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4690		chr12	TogoVar
DGKB_chr7_14140049_14907751	14211726	ATTTACTC others(79): Show ATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGATATTTACTCTCATGTTTTGTGAT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0039 a0001c0017t0001g0039	1	148	0.0068	-86	c.212 others(107): Show c.2123-33661_2123-33576delATCACAAAACATGAGAGTAAATAT CACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAA CATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212301	TTTTACTC others(79): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA20300.hp1 HG02165.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0018 a0001c0004t0004 a0001c0003t0018 a0001c0004t0004	a0001c0003t0018g0061 a0001c0004t0004g0118 a0001c0003t0018g0061 a0001c0004t0004g0118	2	148	0.0135	-86	c.212 others(107): Show c.2123-34236_2123-34151delTATCACAAAACACGAGAGTAAAAT CACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAA CATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DHRS12_chr13_51762993_51809163	51776097	TTCTACAG others(79): Show TTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATT CTCCTACATGTATTCTACAGTATTCTCCTACATGTAC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01884.hp1 HG02451.hp1 HG01192.hp2 HG01884.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0035 a0001c0001t0001g0146 a0001c0001t0001g0147	3	420	0.0071	-86	c.363 others(101): Show c.363+877_363+962delGTACATGTAGGAGAATACTGTAGAATACAT GTAGGAGAATACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATAC TGTAGA	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRSX_chrX_2214506_2505976	2485771	GGAAGGGA others(79): Show GGAAGGGAGAAAAGGGAGAGAAGGGAGAGAAGGAAGGAAGGGAGAGAAGG AAGGAAGGGAGAGAAGGAAGGAAGGGAGAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0031 a0002c0002t0004g0031	1	50	0.0200	-86	c.109 others(105): Show c.109+14960_109+15045delTTTCTTTCTCTCCCTTCCTTCCTTCT CTCCCTTCCTTCCTTCTCTCCCTTCCTTCCTTCTCTCCCTTCTCTCCCTT TTCTCCCTTC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DHX37_chr12_124941826_124994131	124961187	CGCACACA others(79): Show CGCACACACACACATACACGTGTGCACGCACGCACACGCACGCACACACA CATACACGCGTGCACGCACGCACACACATACACGCGT	C C	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0071 a0002c0003t0001g0071	1	370	0.0027	-86	c.204 others(103): Show c.2046-850_2046-765delACGCGTGTATGTGTGTGCGTGCGTGCAC GCGTGTATGTGTGTGTGCGTGCGTGTGCGTGCGTGCACACGTGTATGTGT GTGTGTGC	DHX37	ENSG00000150990.9	transcript	ENST00000308736.7	protein_coding	15/26			chr12	TogoVar
DICER1_chr14_95081228_95162529	95123678	TTACAGGC others(79): Show TTACAGGCACAACCCATCATGCCCAACCTAGCCTTGAAAAGTTGAATCCA TATTTTTAAGAGAAAAAAATCAACATTAAAAAATTAG	T T	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0086 a0001c0001t0004g0086	1	306	0.0033	-86	c.137 others(103): Show c.1376+432_1376+517delCTAATTTTTTAATGTTGATTTTTTTCTC TTAAAAATATGGATTCAACTTTTCAAGGCTAGGTTGGGCATGATGGGTTG TGCCTGTA	DICER1	ENSG00000100697.17	transcript	ENST00000343455.8	protein_coding	8/26			chr14	TogoVar
DIP2C_chr10_269201_694668	445416	ATATCTTG others(79): Show ATATCTTGCACTGGACATCTGTATATATCTGTTGTGAAGAGTCTCACAGG CCCACTGGACATCTGTATACAACTGTTGTGAAGAGTC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02027.hp2 HG00673.hp1 HG02027.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0040 a0001c0003t0002g0054 a0001c0003t0002g0040 a0001c0003t0002g0054	2	88	0.0227	-86	c.269 others(103): Show c.269-4506_269-4421delGACTCTTCACAACAGTTGTATACAGATG TCCAGTGGGCCTGTGAGACTCTTCACAACAGATATATACAGATGTCCAGT GCAAGATA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1101655	GTCCTCGT others(79): Show GTCCTCGTCACCCCTGAGCCGAACACGACACGACGATGGGAAGGTCCTCG TCACCCCGGAGCCGAACACGACACGACGATGGGAAGC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02818.hp2 HG02895.hp1 others(4): Show HG00639.hp1 HG02818.hp2 HG02895.hp1 HG02976.hp1 HG03486.hp1 HG03516.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0009	a0001c0002t0001 a0001c0002t0022 a0001c0003t0001 others(3): Show a0001c0002t0001 a0001c0002t0022 a0001c0003t0001 a0002c0001t0002 a0002c0001t0005 a0002c0009t0021	a0001c0002t0001g0019 a0001c0002t0022g0034 a0001c0003t0001g0026 others(4): Show a0001c0002t0001g0019 a0001c0002t0022g0034 a0001c0003t0001g0026 a0001c0003t0001g0027 a0002c0001t0002g0032 a0002c0001t0005g0035 a0002c0009t0021g0014	7	40	0.1750	-86	c.74- others(105): Show c.74-157139_74-157054delGGAGCCGAACACGACACGACGATGGG AAGCTCCTCGTCACCCCTGAGCCGAACACGACACGACGATGGGAAGGTCC TCGTCACCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1101767	GACACGAC others(79): Show GACACGACGATGGGAAGGTCCTCGTCACCCCTGAGCCGAACACGACACGA CGATGGGAAGCTCCTCGTCACCCCTGAGCCGAACACA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01071.hp2 others(25): Show HG00639.hp2 HG01071.hp1 HG01071.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG02071.hp1 HG02074.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02818.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03710.hp1 NA18906.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0002 a0001c0003 a0001c0012 others(8): Show a0001c0002 a0001c0003 a0001c0012 a0001c0013 a0002c0001 a0002c0004 a0002c0010 a0003c0008 a0004c0005 a0005c0006 a0006c0011	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(24): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0023 a0001c0002t0027 a0001c0003t0001 a0001c0003t0006 a0001c0003t0013 a0001c0003t0014 a0001c0003t0017 a0001c0003t0024 a0001c0012t0012 a0001c0013t0025 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0011 a0002c0001t0019 a0002c0004t0003 a0002c0004t0026 a0002c0010t0008 a0003c0008t0015 a0004c0005t0004 a0005c0006t0002 a0006c0011t0016	a0001c0002t0001g0015 a0001c0002t0002g0021 a0001c0002t0006g0011 others(25): Show a0001c0002t0001g0015 a0001c0002t0002g0021 a0001c0002t0006g0011 a0001c0002t0009g0039 a0001c0002t0023g0005 a0001c0002t0027g0023 a0001c0003t0001g0025 a0001c0003t0006g0033 a0001c0003t0013g0007 a0001c0003t0014g0020 a0001c0003t0017g0004 a0001c0003t0024g0003 a0001c0012t0012g0006 a0001c0013t0025g0012 a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0003g0017 a0002c0001t0003g0022 a0002c0001t0005g0028 a0002c0001t0011g0001 a0002c0001t0019g0030 a0002c0004t0003g0009 a0002c0004t0026g0016 a0002c0010t0008g0040 a0003c0008t0015g0002 a0004c0005t0004g0037 a0005c0006t0002g0031 a0006c0011t0016g0029	28	40	0.7000	-86	c.74- others(105): Show c.74-157034_74-156949delCGATGGGAAGCTCCTCGTCACCCCTG AGCCGAACACAACACGACGATGGGAAGGTCCTCGTCACCCCTGAGCCGAA CACGACACGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOC2B_chr17_137789_186650	140897	CTGGTGAG others(79): Show CTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGGAC ATAGGGGGGCCTTGGTGAGGGGACATGGGGGGGACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0277 a0001c0001t0007g0277	1	339	0.0030	-86	c.64 others(97): Show c.6458_*6543delAGGTCCCCCCCATGTCCCCTCACCAAGGCCCCCC TATGTCCCCTCACCAGGTCCCCTCACCAAGGCCCCCCTATGTCCCCTCAC CA	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1891		chr17	TogoVar
DOCK8_chr9_209865_470255	403908	ATATATAT others(79): Show ATATATATACATATATATATATGTGTATATATATATGTGTATATATATAT ATGTATATATATATATATGTGTATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1 NA19030.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0002 a0004	a0002c0113 a0002c0115 a0004c0019 a0002c0113 a0002c0115 a0004c0019	a0002c0113t0001 a0002c0115t0001 a0004c0019t0001 a0002c0113t0001 a0002c0115t0001 a0004c0019t0001	a0002c0113t0001g0235 a0002c0115t0001g0037 a0004c0019t0001g0091 a0002c0113t0001g0235 a0002c0115t0001g0037 a0004c0019t0001g0091	3	256	0.0117	-86	c.323 others(104): Show c.3235-1001_3235-916delCATATATATATATGTGTATATATATAT GTGTATATATATATATGTATATATATATATATGTGTATATATATATATGT GTATATATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPH7_chr9_137549444_137583925	137565223	ATGTCTGT others(79): Show ATGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCG GGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01975.hp1 HG01993.hp2 others(2): Show HG01884.hp1 HG01975.hp1 HG01993.hp2 HG02258.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0263 a0001c0001t0002g0275 a0001c0001t0002g0288 others(2): Show a0001c0001t0002g0263 a0001c0001t0002g0275 a0001c0001t0002g0288 a0001c0001t0002g0308 a0001c0001t0006g0315	5	340	0.0147	-86	c.641 others(100): Show c.641-155_641-70delGTCACCCAGGGGAGCTTCCTCACAGACAGAG TCACCCCGGGGAGCTTCCTCACAGACAGTCACCCCGGGGAGCTTCCTCAC AGACA	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565272	GGGGTGAC others(79): Show GGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp1 HG02970.hp1 HG02257.hp2 HG02622.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0032 a0001c0001t0002g0253 a0001c0001t0009g0254 a0001c0001t0001g0032 a0001c0001t0002g0253 a0001c0001t0009g0254	3	340	0.0088	-86	c.641 others(101): Show c.641-204_641-119delAGGGGAGCTTCCTCACAGACAGTCACCCCG GGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCCTCACAGACAGAG TCACCC	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565418	TGGATGAC others(79): Show TGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA19009.hp2 HG01175.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0307 a0001c0001t0002g0312 a0001c0001t0002g0307 a0001c0001t0002g0312	2	340	0.0059	-86	c.641 others(101): Show c.641-350_641-265delCGGGGAGCTTCCTCACAGACAGTCACCCAG GGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCCTCACAGACAGAG TCATCC	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565782	TCTGTCTG others(79): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG02897.hp2 others(1): Show HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0019 a0001c0001t0002g0314 a0001c0001t0006g0315 a0001c0001t0002g0019 a0001c0001t0002g0314 a0001c0001t0006g0315	4	340	0.0118	-86	c.641 others(101): Show c.641-714_641-629delTCACCCAGGGGAGCTTCCTCACAGACAGTC ACCCCGGGGAGCTTCCTCACAGACAGAGTCACCCCGGGGAGCTTCCTCAC AGACAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565804	GGGGTGAC others(79): Show GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0262	1	340	0.0029	-86	c.641 others(101): Show c.641-736_641-651delAGGGGAGCTTCCTCACAGACAGTCACCCAG GGGAGCTTCCTCACAGACAGTCACCCCGGGGAGCTTCCTCACAGACAGAG TCACCC	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565870	TGTCTGTG others(79): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01978.hp2 HG02602.hp2 others(2): Show HG00438.hp2 HG01978.hp2 HG02602.hp2 NA18975.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0184 a0001c0001t0001g0215 a0001c0001t0002g0289 others(2): Show a0001c0001t0001g0184 a0001c0001t0001g0215 a0001c0001t0002g0289 a0001c0001t0003g0243 a0001c0001t0008g0101	5	340	0.0147	-86	c.641 others(101): Show c.641-802_641-717delTCACCCCGGGGAGCTTCCTCACAGACAGAG TCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCCTC ACAGAC	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565928	TCTGTCTG others(79): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG04204.hp1 HG03704.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0134 a0001c0001t0001g0141	2	340	0.0059	-86	c.641 others(101): Show c.641-860_641-775delTCACCCAGGGGAGCTTCCTCACAGACAGAG TCACCCAGGGGAGCTTCCTCACAGACAGTCACCCCGGGGAGCTTCCTCAC AGACAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565950	GGGGTGAC others(79): Show GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02015.hp1 NA18747.hp1 others(5): Show HG00621.hp1 HG02015.hp1 NA18747.hp1 NA18947.hp2 NA18964.hp2 NA19009.hp1 NA19010.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0058 others(5): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0168 a0001c0001t0001g0220 a0001c0012t0001g0316	8	340	0.0235	-86	c.641 others(101): Show c.641-882_641-797delAGGGGAGCTTCCTCACAGACAGTCACCCAG GGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCCTCACAGACAG TCACCC	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565986	TCTGTCTG others(79): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19007.hp2 NA19065.hp1 others(2): Show HG03453.hp1 NA19007.hp2 NA19065.hp1 NA19087.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0183 a0001c0001t0001g0214 a0001c0001t0002g0003 others(2): Show a0001c0001t0001g0183 a0001c0001t0001g0214 a0001c0001t0002g0003 a0001c0001t0002g0284 a0001c0001t0002g0289	5	340	0.0147	-86	c.641 others(101): Show c.641-918_641-833delTCACCCAGGGGAGCTTCCTCACAGACAGAG TCACCCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCCTCAC AGACAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566162	TGTCTGTG others(79): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp1 HG01515.hp1 others(3): Show HG00642.hp2 HG01192.hp1 HG01515.hp1 HG01517.hp2 HG03669.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0067 a0001c0001t0001g0068 others(3): Show a0001c0001t0001g0043 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0249	6	340	0.0177	-86	c.641 others(103): Show c.641-1094_641-1009delTCACCCCGGGGAGCTTCCTCACAGACAG AGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCC TCACAGAC	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566220	TCTGTCTG others(79): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01358.hp2 HG02602.hp2 others(1): Show HG01106.hp2 HG01358.hp2 HG02602.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0119 a0001c0001t0001g0169 a0001c0001t0001g0184 others(1): Show a0001c0001t0001g0119 a0001c0001t0001g0169 a0001c0001t0001g0184 a0001c0001t0003g0243	4	340	0.0118	-86	c.641 others(103): Show c.641-1152_641-1067delTCACCCAGGGGAGCTTCCTCACAGACAG AGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCCCGGGGAGCTTCCTC ACAGACAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566242	GGGGTGAC others(79): Show GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18962.hp1 NA18981.hp1 others(2): Show HG02015.hp1 NA18962.hp1 NA18981.hp1 NA19066.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0132 others(2): Show a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0132 a0001c0001t0001g0186 a0001c0001t0001g0192	5	340	0.0147	-86	c.641 others(103): Show c.641-1174_641-1089delAGGGGAGCTTCCTCACAGACAGTCACCC AGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCCTCACAGAC AGTCACCC	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566308	TGTCTGTG others(79): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	340	0.0029	-86	c.641 others(103): Show c.641-1240_641-1155delTCACCCAGGGGAGCTTCCTCACAGACAG AGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCC TCACAGAC	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567168	TCTGTCTG others(79): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02155.hp1 HG03492.hp2 HG00733.hp1 HG02155.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0147 a0001c0001t0001g0181 a0001c0001t0001g0135 a0001c0001t0001g0147 a0001c0001t0001g0181	3	340	0.0088	-86	c.641 others(103): Show c.641-2100_641-2015delTCACCCAGGGGAGCTTCCTCACAGACAG TCACCCCGGGGAGCTTCCTCACAGACAGAGTCACCCCGGGGAGCTTCCTC ACAGACAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567190	GGGGTGAC others(79): Show GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	340	0.0029	-86	c.641 others(103): Show c.641-2122_641-2037delAGGGGAGCTTCCTCACAGACAGTCACCC AGGGGAGCTTCCTCACAGACAGTCACCCCGGGGAGCTTCCTCACAGACAG AGTCACCC	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567220	GGGGTGAC others(79): Show GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18953.hp1 NA18981.hp2 others(2): Show HG04204.hp1 NA18953.hp1 NA18981.hp2 NA18999.hp1 NA19004.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0007 a0004c0004t0001 a0001c0001t0001 a0001c0001t0007 a0004c0004t0001	a0001c0001t0001g0029 a0001c0001t0001g0141 a0001c0001t0007g0232 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0141 a0001c0001t0007g0232 a0004c0004t0001g0138 a0004c0004t0001g0210	5	340	0.0147	-86	c.641 others(103): Show c.641-2152_641-2067delAGGGGAGCTTCCTCACAGACAGAGTCAC CCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCCTCACAGAC AGTCACCC	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567256	TGTCTGTG others(79): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	340	0.0029	-86	c.641 others(103): Show c.641-2188_641-2103delTCACCCAGGGGAGCTTCCTCACAGACAG AGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCC TCACAGAC	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567432	TCTGTCTG others(79): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	340	0.0029	-86	c.641 others(103): Show c.641-2364_641-2279delTCACCCAGGGGAGCTTCCTCACAGACAG TCACCCCGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCCTC ACAGACAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567462	TCTGTCTG others(79): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACT	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	340	0.0029	-86	c.641 others(103): Show c.641-2394_641-2309delAGTCACCCAGGGGAGCTTCCTCACAGAC AGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCCCGGGGAGCTTCCTC ACAGACAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPYD_chr1_97072743_97926034	97130751	CCCTTCCT others(79): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCCTCTCT CCCTCTTTCTTTCTTTCTTCCTTTCTTTCTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0021 a0008c0007t0001g0021	1	52	0.0192	-86	c.262 others(107): Show c.2623-32205_2623-32120delAGAAAGAAGAAAGAAAGGAAGAAA GAAAGAAAGAGGGAGAGAGGGAAGGAGGGAAGGAAAGGAAGGAAGGAAGG AAGGAAGGAAGG	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22			chr1	TogoVar
DUXA_chr19_57149021_57172485	57172030	GGGGGCGG others(79): Show GGGGGCGGGGCGTGCGAGGGGGCGGGGGCGTGCGAGGGGGCGGGGGCGCG CGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGCGCGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0372 a0001c0001t0002g0372	1	446	0.0022	-86	c.-46 others(97): Show c.-4673_-4588delTCGCGCGCCCCGCCCCCTCGCGCGCCCCGCCCCC TCGCGCGCCCCCGCCCCCTCGCACGCCCCCGCCCCCTCGCACGCCCCGCC CC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4546		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172053	GGGGGCGT others(79): Show GGGGGCGTGCGAGGGGGCGGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGG GGCGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0001 a0005c0003t0001	a0005c0003t0001g0349 a0005c0003t0001g0349	1	446	0.0022	-86	c.-46 others(97): Show c.-4696_-4611delGCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCCC GCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCCCCGCCCCCTCGCACGCC CC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4569		chr19	TogoVar
DYNLT2B_chr3_196286219_196323240	196317394	GTGTGTGT others(79): Show GTGTGTGTAAAGTTAGTGATCTCACAAACCTAGCTGAGTACCCTCTGCTC TGGCCCGTGAGCCTGATATTTTTTTCAGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	330	0.0030	-86	c.113 others(101): Show c.113+560_113+645delACACACACACTGAAAAAAATATCAGGCTCA CGGGCCAGAGCAGAGGGTACTCAGCTAGGTTTGTGAGATCACTAACTTTA CACACA	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYNLT2B_chr3_196286219_196323240	196317398	GTGTAAAG others(79): Show GTGTAAAGTTAGTGATCTCACAAACCTAGCTGAGTACCCTCTGCTCTGGC CCGTGAGCCTGATATTTTTTTCAGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(4): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG01243.hp1 HG02300.hp2 HG03239.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0048 a0001c0001t0001g0051 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052	7	330	0.0212	-86	c.113 others(101): Show c.113+556_113+641delACACACACACACACTGAAAAAAATATCAGG CTCACGGGCCAGAGCAGAGGGTACTCAGCTAGGTTTGTGAGATCACTAAC TTTACA	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
ENDOD1_chr11_95084846_95137645	95114285	TTTTTGTA others(79): Show TTTTTGTAGAGACGGGGTTTCACTATGTCGCCCAGGCTGATTGCCCATTT TTAAATTGGATTATTAGATTTTTTTCCTATGGAGTTG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02897.hp1 others(4): Show HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03195.hp2 HG03453.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0002c0002t0002	a0001c0001t0002g0184 a0001c0001t0004g0025 a0001c0001t0007g0017 others(2): Show a0001c0001t0002g0184 a0001c0001t0004g0025 a0001c0001t0007g0017 a0002c0002t0002g0046 a0002c0002t0002g0205	7	368	0.0190	-86	c.301 others(105): Show c.301-14088_301-14003delTGTAGAGACGGGGTTTCACTATGTCG CCCAGGCTGATTGCCCATTTTTAAATTGGATTATTAGATTTTTTTCCTAT GGAGTTGTTT	ENDOD1	ENSG00000149218.5	transcript	ENST00000278505.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr11	TogoVar
ENTPD6_chr20_25190712_25233075	25217904	GCCTCCTC others(79): Show GCCTCCTCTGTCCTCCTCCTTCATCCTTTAATGTGTCTACAGTATACACA CATTAACCCAGACCTCTCTCTCCTCCTCCTCCTCCCA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01361.hp2 HG01891.hp2 others(8): Show HG01081.hp1 HG01361.hp2 HG01891.hp2 HG02970.hp1 HG03491.hp2 HG03492.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0024 a0001c0001t0003g0063 a0001c0001t0003g0103 others(5): Show a0001c0001t0003g0024 a0001c0001t0003g0063 a0001c0001t0003g0103 a0001c0001t0005g0040 a0001c0001t0005g0102 a0001c0001t0005g0188 a0001c0001t0005g0199 a0001c0001t0005g0200	11	380	0.0290	-86	c.878 others(101): Show c.878+370_878+455delACACATTAACCCAGACCTCTCTCTCCTCCT CCTCCTCCCACCTCCTCTGTCCTCCTCCTTCATCCTTTAATGTGTCTACA GTATAC	ENTPD6	ENSG00000197586.13	transcript	ENST00000376652.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
ENTPD6_chr20_25190712_25233075	25217951	ACACATTA others(79): Show ACACATTAACCCAGACCTCTCTCTCCTCCTCCTCCTCCCACCTCCTCTGT CCTCCTCCTTCATCCTTTAATGTGTCTACAGTATACG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	380	0.0026	-86	c.878 others(101): Show c.878+377_878+462delAACCCAGACCTCTCTCTCCTCCTCCTCCTC CCACCTCCTCTGTCCTCCTCCTTCATCCTTTAATGTGTCTACAGTATACG CACATT	ENTPD6	ENSG00000197586.13	transcript	ENST00000376652.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
EPHA2_chr1_16119337_16161069	16132694	CAGGTGGG others(79): Show CAGGTGGGCACAGGTGTAGAGGAGGTGGGTACAAGTATGGGGAGAGGTGG GCACGGGTGTAAGGAGGTGGGTACAGGTATCGGGGAG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0196	1	312	0.0032	-86	c.205 others(103): Show c.2054-341_2054-256delCTCCCCGATACCTGTACCCACCTCCTTA CACCCGTGCCCACCTCTCCCCATACTTGTACCCACCTCCTCTACACCTGT GCCCACCT	EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	11/16			chr1	TogoVar
ERICH1_chr8_659200_736224	714139	CGCATCTC others(79): Show CGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCCGCATCT CTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCG	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0315 a0001c0001t0002g0315	1	378	0.0027	-86	c.169 others(103): Show c.169+1636_169+1721delCGGAAGAGGCCGCCTGGGTGCAGCACAT CCCACCGAGAGATGCGGGAAGAGGCCGCCTGGGTGCAGCACATCCCACCG AGAGATGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	714182	CGCATCTC others(79): Show CGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCT CTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00609.hp1 others(119): Show HG00099.hp1 HG00140.hp2 HG00609.hp1 HG00738.hp1 HG01074.hp1 HG01099.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp2 NA18955.hp1 NA18960.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19060.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA20129.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0015 a0003c0004 a0005c0007 a0010c0013 a0011c0016 a0012c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0009t0001 a0001c0015t0001 a0003c0004t0001 a0005c0007t0001 a0010c0013t0001 a0011c0016t0001 a0012c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(114): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0002g0012 a0001c0001t0002g0253 a0001c0001t0002g0290 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0003g0108 a0001c0002t0001g0005 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0102 a0001c0002t0001g0106 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0002g0252 a0001c0009t0001g0120 a0001c0015t0001g0077 a0003c0004t0001g0078 a0005c0007t0001g0238 a0005c0007t0001g0239 a0005c0007t0001g0240 a0010c0013t0001g0119 a0011c0016t0001g0084 a0012c0010t0001g0062	122	378	0.3228	-86	c.169 others(103): Show c.169+1593_169+1678delCGGAAGAGGCCGCCTGGGTGCAGCACAT CCCACCGAGAGATGCCGGAAGAGGCCGCCTGGGTGCAGCACATCCCACCG AGAGATGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	714311	GGCATCTC others(79): Show GGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCT CTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	378	0.0027	-86	c.169 others(103): Show c.169+1464_169+1549delGGGAAGAGGCCGCCTGGGTGCAGCACAT CCCACCGAGAGATGCCGGAAGAGGCCGCCTGGGTGCAGCACATCCCACCG AGAGATGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	714354	GGCATCTC others(79): Show GGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCCGCATCT CTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCC	G G	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	378	0.0027	-86	c.169 others(103): Show c.169+1421_169+1506delGGGAAGAGGCCGCCTGGGTGCAGCACAT CCCACCGAGAGATGCGGGAAGAGGCCGCCTGGGTGCAGCACATCCCACCG AGAGATGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ESPNL_chr2_238095340_238138287	238137276	GCTGGGCT others(79): Show GCTGGGCTATGGCTGGGCTATGGCTGGGCAATAGCTGAGCTGGACTGGGC TATGGCTGGGCTATGGTTGGGCAATAGCTGAGCTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00741.hp1 others(41): Show HG00099.hp2 HG00642.hp2 HG00741.hp1 HG01099.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02559.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03831.hp1 NA18952.hp2 NA18954.hp2 NA18985.hp2 NA18998.hp2 NA19009.hp2 NA19043.hp1 NA19057.hp1 NA19063.hp2 NA19240.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0005 a0006 a0008 others(6): Show a0005 a0006 a0008 a0013 a0017 a0023 a0032 a0045 a0052	a0005c0007 a0005c0014 a0005c0019 others(15): Show a0005c0007 a0005c0014 a0005c0019 a0005c0026 a0005c0048 a0005c0072 a0005c0079 a0005c0088 a0005c0104 a0006c0045 a0008c0091 a0013c0065 a0013c0075 a0017c0040 a0023c0077 a0032c0098 a0045c0076 a0052c0055	a0005c0007t0001 a0005c0007t0008 a0005c0014t0001 others(18): Show a0005c0007t0001 a0005c0007t0008 a0005c0014t0001 a0005c0019t0001 a0005c0019t0024 a0005c0026t0001 a0005c0026t0022 a0005c0048t0001 a0005c0072t0001 a0005c0079t0001 a0005c0088t0001 a0005c0104t0001 a0006c0045t0008 a0008c0091t0001 a0013c0065t0001 a0013c0075t0001 a0017c0040t0001 a0023c0077t0001 a0032c0098t0001 a0045c0076t0011 a0052c0055t0001	a0005c0007t0001g0020 a0005c0007t0001g0065 a0005c0007t0001g0074 others(36): Show a0005c0007t0001g0020 a0005c0007t0001g0065 a0005c0007t0001g0074 a0005c0007t0001g0086 a0005c0007t0008g0008 a0005c0007t0008g0051 a0005c0007t0008g0053 a0005c0007t0008g0104 a0005c0014t0001g0286 a0005c0014t0001g0292 a0005c0014t0001g0301 a0005c0014t0001g0305 a0005c0014t0001g0307 a0005c0014t0001g0325 a0005c0014t0001g0327 a0005c0019t0001g0013 a0005c0019t0001g0154 a0005c0019t0001g0158 a0005c0019t0024g0135 a0005c0026t0001g0018 a0005c0026t0001g0047 a0005c0026t0001g0082 a0005c0026t0022g0018 a0005c0048t0001g0032 a0005c0072t0001g0189 a0005c0079t0001g0198 a0005c0088t0001g0054 a0005c0104t0001g0226 a0006c0045t0008g0088 a0006c0045t0008g0089 a0008c0091t0001g0073 a0013c0065t0001g0299 a0013c0075t0001g0002 a0017c0040t0001g0211 a0017c0040t0001g0212 a0023c0077t0001g0072 a0032c0098t0001g0213 a0045c0076t0011g0200 a0052c0055t0001g0042	44	408	0.1078	-86	c.55 others(97): Show c.5545_*5630delCTGGGCTATGGCTGGGCTATGGCTGGGCAATAGC TGAGCTGGACTGGGCTATGGCTGGGCTATGGTTGGGCAATAGCTGAGCTG GA	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		3990		chr2	TogoVar
ETS1_chr11_128453765_128592558	128585064	GAAAGAAA others(79): Show GAAAGAAAGAAAGAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAGGAAGGA AGGAAAGAAAGAAGAAAGAAAGAAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01952.hp1 HG00621.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0003 a0001c0001t0005 a0001c0002t0003	a0001c0001t0005g0213 a0001c0002t0003g0187 a0001c0001t0005g0213 a0001c0002t0003g0187	2	286	0.0070	-86	c.-15 others(103): Show c.-15+2338_-15+2423delTTCTTTCTTTCTTTTCTTTCTTTCTTCT TTCTTTCCTTCCTTCCTTCCTTTCTTTCTTTCCTTTCTTTCTTTCTCTTT CTTTCTTT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
EXOC6B_chr2_72170984_72831033	72401519	ATATACAT others(79): Show ATATACATATATATATATATATATATGTGTATATATATATATATATACAT ATATATATATATACATATATATATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02976.hp1 HG02717.hp2 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0024 a0001c0002t0005 a0001c0002t0024	a0001c0002t0005g0102 a0001c0002t0024g0019 a0001c0002t0005g0102 a0001c0002t0024g0019	2	104	0.0192	-86	c.198 others(107): Show c.1981-21735_1981-21650delCACATATATATATATATATATATG TATATATATATATATGTATATATATATATATATACACATATATATATATA TATATATGTATA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
EZR_chr6_158760748_158824368	158803568	TATATATA others(79): Show TATATATATATATACATATATATATATATATATATATACATATATATATA TATATATACATATACATACATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02602.hp1 HG02622.hp2 others(4): Show HG02080.hp2 HG02602.hp1 HG02622.hp2 HG02809.hp1 HG03209.hp2 NA18943.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0199 a0001c0001t0002g0200 others(4): Show a0001c0001t0002g0190 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0266 a0001c0001t0002g0294	7	312	0.0224	-86	c.13- others(103): Show c.13-14283_13-14198delGTATATATATATATATATGTATGTATAT GTATATATATATATATATATGTATATATATATATATATATATATGTATAT ATATATAT	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar

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