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
DAB2IP_chr9_121646634_121790530	121751147	GGCTGCTG others(48): Show GGCTGCTGTGGACCTTTCCCCCTGCCCGGCTGCTATGGACCTTTCCCTGC TGCCCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02572.hp1 HG03041.hp1 others(3): Show HG01109.hp2 HG02572.hp1 HG03041.hp1 HG03195.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0021 a0001c0005t0028 others(1): Show a0001c0005t0002 a0001c0005t0021 a0001c0005t0028 a0001c0005t0029	a0001c0005t0002g0014 a0001c0005t0002g0172 a0001c0005t0002g0174 others(3): Show a0001c0005t0002g0014 a0001c0005t0002g0172 a0001c0005t0002g0174 a0001c0005t0021g0013 a0001c0005t0028g0206 a0001c0005t0029g0217	6	224	0.0268	-55	c.363 others(72): Show c.363-5855_363-5801delACCTTTCCCCCTGCCCGGCTGCTATGGA CCTTTCCCTGCTGCCCAGCTGCTGTGG	DAB2IP	ENSG00000136848.19	transcript	ENST00000408936.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
DBN1_chr5_177451610_177478634	177451671	ACCCTCAG others(48): Show ACCCTCAGGCAGGGAGCACCCTGTAGCCTGCTTCGGAGAGTGACTGTGGT GCCCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02015.hp1 HG02976.hp1 others(1): Show HG01884.hp2 HG02015.hp1 HG02976.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0001t0019 a0001c0019t0003 a0001c0001t0001 a0001c0001t0019 a0001c0019t0003	a0001c0001t0001g0152 a0001c0001t0001g0164 a0001c0001t0019g0165 others(1): Show a0001c0001t0001g0152 a0001c0001t0001g0164 a0001c0001t0019g0165 a0001c0019t0003g0175	4	346	0.0116	-55	c.57 others(66): Show c.5707_*5761delCTGGGCACCACAGTCACTCTCCGAAGCAGGCTAC AGGGTGCTCCCTGCCTGAGGG	DBN1	ENSG00000113758.14	transcript	ENST00000393565.6	protein_coding		4938		chr5	TogoVar
DBNDD1_chr16_89999871_90024456	90003314	ATGCACGT others(48): Show ATGCACGTGGGGTGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACC TTTACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	412	0.0024	-55	c.29 others(66): Show c.2966_*3020delCGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCAC AGAAGTCCCACCCCACGTGCA	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1556		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003433	CGGTGGGA others(48): Show CGGTGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCTACCTTTATATGC ACGTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG02630.hp1 others(3): Show HG02055.hp2 HG02572.hp1 HG02630.hp1 HG02922.hp1 HG02976.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 others(3): Show a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0151 a0001c0001t0001g0164 a0001c0001t0001g0165	6	412	0.0146	-55	c.28 others(66): Show c.2847_*2901delCCACGTGCATATAAAGGTAGCCCGGGCCGGGGGA GGGAATCACAGAAGTCCCACC	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1437		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003450	TTCCCTCC others(48): Show TTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTC TATGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0193 a0001c0001t0003g0193	1	412	0.0024	-55	c.28 others(66): Show c.2830_*2884delGTCATAGAAGTCCCACCCCACGTGCATATAAAGG TAGCCCGGGCCGGGGGAGGGA	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1420		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003533	CATGCACG others(48): Show CATGCACGTGCGGTGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCTAC CTTTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00438.hp2 others(41): Show HG00140.hp1 HG00423.hp1 HG00438.hp2 HG00639.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02523.hp1 HG02922.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 NA18612.hp1 NA18612.hp2 NA18949.hp1 NA18949.hp2 NA18960.hp1 NA18966.hp1 NA18969.hp2 NA18985.hp2 NA18990.hp2 NA18993.hp2 NA19005.hp1 NA19011.hp2 NA19060.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA19089.hp1 NA19090.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0002t0001 a0003c0006t0002	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 others(25): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0227 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0033 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0246 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0277 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0288 a0001c0001t0018g0294 a0001c0002t0001g0068 a0001c0002t0001g0072 a0003c0006t0002g0287	44	412	0.1068	-55	c.27 others(66): Show c.2747_*2801delATAAAGGTAGCCCGGGCCGGGGGAGGGAATCACA GAAGTCCCACCGCACGTGCAT	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1337		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003543	CGGTGGGA others(48): Show CGGTGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCTACCTTTATATGC ACGTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0230 a0001c0001t0004g0230	1	412	0.0024	-55	c.27 others(66): Show c.2737_*2791delCCACGTGCATATAAAGGTAGCCCGGGCCGGGGGA GGGAATCACAGAAGTCCCACC	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1327		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003570	CGGCCCGG others(48): Show CGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTGTGACTCCC TCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02976.hp2 HG02055.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0164 a0001c0001t0001g0165	2	412	0.0049	-55	c.27 others(66): Show c.2710_*2764delAGGGGAGGGAGTCACAGAAGTCCCACCCCACGTG CATATAAAGGTAGCCCGGGCC	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1300		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003625	TGGCCCGG others(48): Show TGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTATGACTCCC TCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA19004.hp1 NA19009.hp1 others(1): Show NA18983.hp2 NA19004.hp1 NA19009.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0016 a0001c0001t0002g0040 a0001c0001t0002g0004 a0001c0001t0002g0016 a0001c0001t0002g0040	4	412	0.0097	-55	c.26 others(66): Show c.2655_*2709delGGGGGAGGGAGTCATAGAAGTCCCGCCCCACGTG CACGTAAAGGTAGCCCGGGCC	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1245		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003680	CGGCCCGG others(48): Show CGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCC TCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	-55	c.26 others(66): Show c.2600_*2654delAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTG CACGTAAAGGTGGCCCGGGCC	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1190		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003835	CTCCCTCC others(48): Show CTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTC TGTGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	412	0.0024	-55	c.24 others(66): Show c.2445_*2499delATCACAGAAGTCCCGCCCCACGTGCACGTAAAGG TGGCCCGGGCCGGGGGAGGGA	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1035		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003996	GTGACTCC others(48): Show GTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGA CTTCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 NA18966.hp2 HG03491.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0279 a0001c0001t0002g0001 a0001c0001t0002g0279	2	412	0.0049	-55	c.22 others(66): Show c.2284_*2338delAAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGC CCGGGCCAGGGGAGGGAGTCA	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		874		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90004010	TGGCCCGG others(48): Show TGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTTTGACTCCC TCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02451.hp2 HG02818.hp2 others(8): Show HG02015.hp1 HG02451.hp2 HG02818.hp2 HG03041.hp1 HG03540.hp1 NA18522.hp2 NA18957.hp2 NA18967.hp1 NA18983.hp2 NA19004.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0221 a0001c0001t0002g0001 a0001c0001t0002g0004 others(6): Show a0001c0001t0001g0221 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0016 a0001c0001t0002g0265 a0001c0001t0002g0290 a0001c0001t0003g0028 a0001c0001t0009g0243 a0001c0001t0010g0162	11	412	0.0267	-55	c.22 others(66): Show c.2270_*2324delGGGGGAGGGAGTCAAAGAAGTCCCGCCCCACGTG CACGTAAAGGTGGCCCGGGCC	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		860		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90004151	CGGGACTT others(48): Show CGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACG TGGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00609.hp1 others(40): Show HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00673.hp2 HG01255.hp1 HG01975.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp1 HG02135.hp2 HG02738.hp1 HG03490.hp1 HG03492.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18945.hp2 NA18949.hp2 NA18952.hp1 NA18960.hp1 NA18966.hp1 NA18969.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18998.hp1 NA19005.hp1 NA19011.hp2 NA19063.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19079.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp2 NA19090.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0004c0005t0002 a0001c0001t0001 a0001c0001t0002 a0004c0005t0002	a0001c0001t0001g0008 a0001c0001t0001g0089 a0001c0001t0001g0159 others(25): Show a0001c0001t0001g0008 a0001c0001t0001g0089 a0001c0001t0001g0159 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0017 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0277 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0288 a0004c0005t0002g0267	43	412	0.1044	-55	c.21 others(66): Show c.2129_*2183delACCCCACGTGCACGTAAAGGTGGCCCGGGCCAGG GGAGGGAGTCACAGAAGTCCC	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		719		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90004261	TGGGACTT others(48): Show TGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACG TGGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01261.hp1 HG02129.hp2 others(2): Show HG00735.hp2 HG01261.hp1 HG02129.hp2 HG02132.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0020 a0001c0001t0001g0200 a0001c0001t0002g0289 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0200 a0001c0001t0002g0289 a0001c0002t0001g0003	5	412	0.0121	-55	c.20 others(66): Show c.2019_*2073delGCCCCACGTGCACGTAAAGGTGGCCCGGGCCAGG GGAGGGAGTCACAGAAGTCCC	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		609		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90004426	CGGGACTT others(48): Show CGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCTACCTTTACGTGCACG TGGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02895.hp1 HG02717.hp2 HG02895.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0025 a0002c0003t0012g0025	2	412	0.0049	-55	c.18 others(66): Show c.1854_*1908delACCCCACGTGCACGTAAAGGTAGCCCGGGCCAGG GGAGGGAGTCACAGAAGTCCC	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		444		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90004438	GACTCCCT others(48): Show GACTCCCTCCCCTGGCCCGGGCTACCTTTACGTGCACGTGGGGTGGGACT TCTGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18995.hp1 NA18969.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0258 a0001c0001t0002g0038 a0001c0001t0002g0258	2	412	0.0049	-55	c.18 others(66): Show c.1842_*1896delTACAGAAGTCCCACCCCACGTGCACGTAAAGGTA GCCCGGGCCAGGGGAGGGAGT	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		432		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90004537	CGGGACTT others(48): Show CGGGACTTCTGTGACTCCCTCCCCCAGCCTGGGCTACCTTTACATGCACG TGGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 NA19089.hp2 HG00323.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0201 a0001c0001t0002g0004 a0001c0001t0001g0201 a0001c0001t0002g0004	2	412	0.0049	-55	c.17 others(66): Show c.1743_*1797delACCCCACGTGCATGTAAAGGTAGCCCAGGCTGGG GGAGGGAGTCACAGAAGTCCC	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		333		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90004580	ATGCACGT others(48): Show ATGCACGTGGGGTGGGACTTCTGTGACTCCCTCCCCCAGCCTGGGCTACC TTTACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0230 a0001c0001t0004g0230	1	412	0.0024	-55	c.17 others(66): Show c.1700_*1754delCGTAAAGGTAGCCCAGGCTGGGGGAGGGAGTCAC AGAAGTCCCACCCCACGTGCA	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		290		chr16	TogoVar
DEFA3_chr8_7010869_7023297	7021507	CAACCCCA others(48): Show CAACCCCAGCCTGATTTTTTCCAGTGATTGCAGCCAGTGTAGACAATCAG TGTCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	430	0.0023	-55	c.-33 others(66): Show c.-3353_-3299delTGGACACTGATTGTCTACACTGGCTGCAATCACT GGAAAAAATCAGGCTGGGGTT	DEFA3	ENSG00000239839.7	transcript	ENST00000327857.7	protein_coding		3211		chr8	TogoVar
DENND6A_chr3_57620454_57698077	57644733	AGGGAGGG others(48): Show AGGGAGGGGAGGGGTGGGGAGGGGAGGGGAGGGGTGAGGAGGGGAGGGGA GGGGTG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0125	1	332	0.0030	-55	c.103 others(72): Show c.1037+873_1037+927delCACCCCTCCCCTCCCCTCCTCACCCCTC CCCTCCCCTCCCCACCCCTCCCCTCCC	DENND6A	ENSG00000174839.13	transcript	ENST00000311128.10	protein_coding	11/19			chr3	TogoVar
DGKK_chrX_50360409_50475825	50447354	TATAATAT others(48): Show TATAATATATATATATTATATATATATATAATATATATATATTATATATA TATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA20752.hp1 HG02257.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0010 a0001c0003 a0003c0010	a0001c0003t0002 a0003c0010t0001 a0001c0003t0002 a0003c0010t0001	a0001c0003t0002g0150 a0003c0010t0001g0228 a0001c0003t0002g0150 a0003c0010t0001g0228	2	248	0.0081	-55	c.645 others(74): Show c.645+22625_645+22679delTATATATATATATAATATATATATAT TATATATATATATAATATATATATATTAT	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	1/27			chrX	TogoVar
DHRS13_chr17_28892781_28908079	28899083	ACAGGGAC others(48): Show ACAGGGACAGAATCTGGTTTCAAGGGAACCAGGATAGTATTTACCAGGCA TTCGGG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	412	0.0024	-55	c.683 others(70): Show c.683-246_683-192delCCCGAATGCCTGGTAAATACTATCCTGGTT CCCTTGAAACCAGATTCTGTCCCTG	DHRS13	ENSG00000167536.14	transcript	ENST00000378895.9	protein_coding	4/4			chr17	TogoVar
DHRSX_chrX_2214506_2505976	2228378	AGGAATGA others(48): Show AGGAATGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAG GAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18960.hp1 NA19066.hp1 HG02922.hp1 NA18960.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0012g0027 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0012g0027	3	50	0.0600	-55	c.805 others(72): Show c.805-7204_805-7150delCCCTTCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTTCATTCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DIP2C_chr10_269201_694668	437094	ACCTCCTG others(48): Show ACCTCCTGGACATGGTAGGGTGATATGCTCCGTCCACACCTGAGCTCTGA GCTCCG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03225.hp2 HG02647.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0002 a0001c0001t0001 a0001c0016t0002	a0001c0001t0001g0008 a0001c0016t0002g0083 a0001c0001t0001g0008 a0001c0016t0002g0083	2	88	0.0227	-55	c.394 others(72): Show c.394+3722_394+3776delCGGAGCTCAGAGCTCAGGTGTGGACGGA GCATATCACCCTACCATGTCCAGGAGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIPK1C_chr18_74429775_74462308	74456111	CACTATTT others(48): Show CACTATTTTAGGAAATGAATAATCGCTTAAGAAGTCATGTAAGAGTAGCT GCTACT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0369 a0002c0002t0002g0369	1	484	0.0021	-55	c.198 others(70): Show c.198+896_198+950delAGTAGCAGCTACTCTTACATGACTTCTTAA GCGATTATTCATTTCCTAAAATAGT	DIPK1C	ENSG00000187773.9	transcript	ENST00000343998.8	protein_coding	1/3			chr18	TogoVar
DLGAP2_chr8_732628_1713476	992288	CTTCTCTC others(48): Show CTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCC TGTTCT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0001 a0002c0001t0011g0001	1	40	0.0250	-55	c.73+ others(72): Show c.73+84324_73+84378delTCTCTCCCACCTTACCCGGACCCCCTGC ACCCCCATACTCGGAGTTCCTGTTCTT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1024243	CCCCGTGC others(48): Show CCCCGTGCCGAGGCAGACACCCCAGCCACCACCCACCCTCCCTGGGGGTG GACAGT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	40	0.0250	-55	c.73+ others(74): Show c.73+116359_73+116413delACCACCCACCCTCCCTGGGGGTGGAC AGTCCCGTGCCGAGGCAGACACCCCAGCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32452439	GGGAAAGG others(48): Show GGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAA	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0013 a0013	a0013c0049 a0013c0049	a0013c0049t0001 a0013c0049t0001	a0013c0049t0001g0073 a0013c0049t0001g0073	1	126	0.0079	-55	c.360 others(74): Show c.3603+2168_3603+2222delTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78			chrX	TogoVar
DNAH5_chr5_13685328_13949688	13802979	AATATATA others(48): Show AATATATATGAAAGCAATTCATGAGCTTGCTACAGAGTATTATGCATTAA TGATAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp2 HG01071.hp1 others(36): Show HG00609.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01168.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01361.hp1 HG01496.hp1 HG01928.hp1 HG01978.hp1 HG02132.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02723.hp2 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp2 HG04204.hp1 NA18939.hp2 NA18944.hp1 NA18966.hp1 NA18984.hp2 NA18993.hp1 NA19002.hp2 NA20129.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0003 a0006 a0010 others(22): Show a0003 a0006 a0010 a0011 a0020 a0021 a0030 a0032 a0038 a0043 a0059 a0060 a0069 a0077 a0083 a0090 a0096 a0100 a0101 a0113 a0119 a0121 a0128 a0133 a0148	a0003c0122 a0006c0018 a0006c0081 others(29): Show a0003c0122 a0006c0018 a0006c0081 a0010c0133 a0010c0167 a0011c0003 a0011c0118 a0020c0017 a0020c0090 a0021c0016 a0021c0091 a0030c0030 a0032c0184 a0032c0185 a0038c0008 a0043c0045 a0043c0109 a0059c0166 a0060c0151 a0069c0050 a0077c0110 a0083c0143 a0090c0083 a0096c0103 a0100c0112 a0101c0043 a0113c0096 a0119c0150 a0121c0055 a0128c0123 a0133c0085 a0148c0196	a0003c0122t0001 a0006c0018t0001 a0006c0081t0001 others(30): Show a0003c0122t0001 a0006c0018t0001 a0006c0081t0001 a0010c0133t0001 a0010c0167t0002 a0011c0003t0001 a0011c0118t0001 a0020c0017t0002 a0020c0017t0003 a0020c0090t0002 a0021c0016t0001 a0021c0091t0001 a0030c0030t0002 a0032c0184t0002 a0032c0185t0002 a0038c0008t0003 a0043c0045t0001 a0043c0109t0001 a0059c0166t0001 a0060c0151t0002 a0069c0050t0008 a0077c0110t0002 a0083c0143t0002 a0090c0083t0001 a0096c0103t0001 a0100c0112t0007 a0101c0043t0003 a0113c0096t0001 a0119c0150t0022 a0121c0055t0003 a0128c0123t0001 a0133c0085t0018 a0148c0196t0001	a0003c0122t0001g0093 a0006c0018t0001g0057 a0006c0018t0001g0077 others(36): Show a0003c0122t0001g0093 a0006c0018t0001g0057 a0006c0018t0001g0077 a0006c0081t0001g0064 a0010c0133t0001g0192 a0010c0167t0002g0117 a0011c0003t0001g0089 a0011c0003t0001g0090 a0011c0003t0001g0111 a0011c0118t0001g0105 a0020c0017t0002g0085 a0020c0017t0003g0246 a0020c0090t0002g0103 a0021c0016t0001g0071 a0021c0016t0001g0073 a0021c0091t0001g0068 a0030c0030t0002g0136 a0030c0030t0002g0137 a0032c0184t0002g0140 a0032c0185t0002g0135 a0038c0008t0003g0240 a0038c0008t0003g0241 a0043c0045t0001g0060 a0043c0109t0001g0035 a0059c0166t0001g0122 a0060c0151t0002g0182 a0069c0050t0008g0099 a0077c0110t0002g0034 a0083c0143t0002g0144 a0090c0083t0001g0153 a0096c0103t0001g0028 a0100c0112t0007g0008 a0101c0043t0003g0239 a0113c0096t0001g0087 a0119c0150t0022g0232 a0121c0055t0003g0243 a0128c0123t0001g0092 a0133c0085t0018g0062 a0148c0196t0001g0223	39	252	0.1548	-55	c.788 others(74): Show c.7887+4557_7887+4611delATATCATTAATGCATAATACTCTGTA GCAAGCTCATGAATTGCTTTCATATATAT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	47/78			chr5	TogoVar
DNAJB6_chr7_157332004_157422439	157369760	TATTATTA others(48): Show TATTATTAAACAGGCCTTTCATAACATTATTATTAAACGAGCCCCTTCTT AACATC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0140 a0001c0001t0009g0140	1	372	0.0027	-55	c.346 others(72): Show c.346+2302_346+2356delATTATTATTAAACGAGCCCCTTCTTAAC ATCATTATTAAACAGGCCTTTCATAAC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJC13_chr3_132412502_132544032	132417162	GCGGAGGG others(48): Show GCGGAGGGGCGCGGCCCTAAGGCACACGCCGGAGGGGCGTGGTCATGGGC ACCCGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	318	0.0031	-55	c.-61 others(64): Show c.-611_-557delCGGAGGGGCGCGGCCCTAAGGCACACGCCGGAGGGG CGTGGTCATGGGCACCCGC	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding		339		chr3	TogoVar
DNER_chr2_229352629_229719555	229554854	GGAAAAGA others(48): Show GGAAAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA AGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	176	0.0057	-55	c.848 others(72): Show c.848-7817_848-7763delTTCTCTTCTCTTCTCTTCTCTTCTCTTC TCTTCTCTTCTCTTCTCTTCTCTTTTC	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	4/12			chr2	TogoVar
DOC2B_chr17_137789_186650	141429	TTGGTGAG others(48): Show TTGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAG GGGACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0209 a0001c0002t0054g0209	1	339	0.0030	-55	c.59 others(66): Show c.5957_*6011delGGTCCCCTCACCAAGGCTCCCCACCCATGTTCCC CTCACCATGCTCCCCTCACCA	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1359		chr17	TogoVar
DOK7_chr4_3458306_3499482	3490891	AATTTCTT others(48): Show AATTTCTTCCTTCTCTCCTCTGCTCATTCATTCCTTCCTTCTTCCCCTGC TCATTC	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	404	0.0025	-55	c.772 others(72): Show c.772+1099_772+1153delTCTTCCTTCTCTCCTCTGCTCATTCATT CCTTCCTTCTTCCCCTGCTCATTCATT	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DPEP1_chr16_89608642_89643433	89613903	GGCTTCCT others(48): Show GGCTTCCTGGGATTCTAGGAGGCTGGGACCAGGTGTGTGGGGCAGGGGAC GAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(98): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp2 HG00733.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG02027.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18951.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18975.hp2 NA18984.hp2 NA19000.hp2 NA19009.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp1 NA19064.hp2 NA19081.hp2 NA19084.hp2 NA19240.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0008 a0009 a0012	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0003c0004 a0004c0006 a0008c0011 a0009c0012 a0012c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 a0003c0003t0002 a0003c0004t0002 a0004c0006t0001 a0008c0011t0001 a0009c0012t0001 a0012c0005t0002	a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0001g0035 others(98): Show a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0002g0090 a0002c0002t0001g0033 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0076 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0110 a0002c0002t0001g0113 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0131 a0002c0002t0003g0047 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0061 a0002c0002t0003g0075 a0003c0003t0002g0049 a0003c0003t0002g0050 a0003c0004t0002g0127 a0003c0004t0002g0128 a0004c0006t0001g0059 a0008c0011t0001g0101 a0009c0012t0001g0085 a0012c0005t0002g0083	101	250	0.4040	-55	c.-10 others(72): Show c.-107+210_-107+264delGACCAGGTGTGTGGGGCAGGGGACGAGG CAGCTTCCTGGGATTCTAGGAGGCTGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPH1_chr17_2025153_2048898	2034212	GGTGGGGG others(48): Show GGTGGGGGGCACCTGTTCCTCGGGCACATTTGGGGAAGTAGGGCAAGGAT GGGTTT	G G	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0017 a0017	a0017c0010 a0017c0010	a0017c0010t0001 a0017c0010t0001	a0017c0010t0001g0131 a0017c0010t0001g0131	1	392	0.0026	-55	c.278 others(70): Show c.278+372_278+426delTGGGGGGCACCTGTTCCTCGGGCACATTTG GGGAAGTAGGGCAAGGATGGGTTTG	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DPH1_chr17_2025153_2048898	2047853	TGATTACA others(48): Show TGATTACAGGCATGAGCCATGTCTCCCAGCCCTAAATAATGATTTTTTTT TTTTGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	392	0.0026	-55	c.52 others(66): Show c.5268_*5322delGATTACAGGCATGAGCCATGTCTCCCAGCCCTAA ATAATGATTTTTTTTTTTTGA	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding		3956		chr17	TogoVar
DPH7_chr9_137549444_137583925	137551676	CGAGCCCC others(48): Show CGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCC GCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02559.hp1 NA18522.hp2 others(1): Show HG02145.hp1 HG02559.hp1 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0049 a0001c0001t0001g0208 a0001c0001t0001g0011 a0001c0001t0001g0049 a0001c0001t0001g0208	4	340	0.0118	-55	c.35 others(66): Show c.3508_*3562delCGGGGCGGGGCTCGCGGGGCGGGGCTCGCGGGGC GGGGCTCGCGGGGCGGGGCTC	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding		2767		chr9	TogoVar
DPYSL4_chr10_132181948_132210759	132190862	CGTTCCCA others(48): Show CGTTCCCAGCTCGTGTGTACACGCTGGTCACGTGGTATCCAGGCAGTTGA AAGTAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0205 a0001c0003t0005g0205	1	418	0.0024	-55	c.128 others(69): Show c.128+73_128+127delTTGAAAGTATGTTCCCAGCTCGTGTGTACAC GCTGGTCACGTGGTATCCAGGCAG	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132191103	GCTGGCCA others(48): Show GCTGGCCACGTGGTATCCAGGCAGTTGAAAGTATGTTCCCACCTCTTGTG TACACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(270): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0011 a0001c0013 a0001c0016 a0001c0018 a0001c0025 a0001c0026 a0001c0031 a0001c0032 a0003c0008 a0003c0030 a0005c0020 a0009c0034 a0010c0017 a0011c0022 a0012c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0002t0035 a0001c0003t0001 a0001c0007t0001 a0001c0007t0014 a0001c0011t0001 a0001c0013t0002 a0001c0016t0012 a0001c0018t0006 a0001c0025t0001 a0001c0026t0004 a0001c0031t0001 a0001c0032t0002 a0003c0008t0007 a0003c0030t0007 a0005c0020t0002 a0009c0034t0001 a0010c0017t0002 a0011c0022t0001 a0012c0033t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 others(133): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0176 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0123 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0187 a0001c0001t0002g0198 a0001c0001t0004g0035 a0001c0001t0004g0057 a0001c0001t0004g0059 a0001c0001t0004g0133 a0001c0001t0004g0148 a0001c0001t0004g0179 a0001c0001t0006g0001 a0001c0001t0006g0109 a0001c0001t0006g0111 a0001c0001t0006g0118 a0001c0001t0006g0119 a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 a0001c0001t0006g0127 a0001c0001t0006g0178 a0001c0001t0007g0081 a0001c0001t0012g0019 a0001c0001t0012g0180 a0001c0001t0012g0181 a0001c0001t0014g0166 a0001c0001t0016g0006 a0001c0001t0016g0115 a0001c0001t0020g0024 a0001c0001t0021g0024 a0001c0001t0029g0006 a0001c0001t0033g0175 a0001c0001t0034g0113 a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0023 a0001c0002t0001g0031 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0102 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0128 a0001c0002t0001g0134 a0001c0002t0001g0139 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0156 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0014g0007 a0001c0002t0014g0154 a0001c0002t0035g0152 a0001c0003t0001g0142 a0001c0007t0001g0030 a0001c0007t0001g0138 a0001c0007t0014g0126 a0001c0011t0001g0021 a0001c0011t0001g0129 a0001c0013t0002g0003 a0001c0016t0012g0019 a0001c0016t0012g0104 a0001c0018t0006g0117 a0001c0025t0001g0023 a0001c0026t0004g0157 a0001c0031t0001g0015 a0001c0032t0002g0124 a0003c0008t0007g0012 a0003c0030t0007g0186 a0005c0020t0002g0003 a0009c0034t0001g0211 a0010c0017t0002g0025 a0011c0022t0001g0143 a0012c0033t0001g0004	273	418	0.6531	-55	c.128 others(70): Show c.128+273_128+327delCCACGTGGTATCCAGGCAGTTGAAAGTATG TTCCCACCTCTTGTGTACACACTGG	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132191267	GCTGGCCA others(48): Show GCTGGCCACGTGGTATCCAGGCAGTTGAAAGTATGTTCCCACCTCTTGTG TACACA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18906.hp2 HG03041.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0008 a0001c0013t0008 a0001c0001t0008 a0001c0013t0008	a0001c0001t0008g0199 a0001c0013t0008g0086 a0001c0001t0008g0199 a0001c0013t0008g0086	2	418	0.0048	-55	c.128 others(70): Show c.128+492_128+546delCCACGTGGTATCCAGGCAGTTGAAAGTATG TTCCCACCTCTTGTGTACACACTGG	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132191549	ATGGTATC others(48): Show ATGGTATCCAGGCAGGTTAAAGTATGTTCCCAGCTCGTGTGTACACGCTG GTCACG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA20905.hp2 HG03669.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0005 a0001c0015t0005 a0001c0003t0005 a0001c0015t0005	a0001c0003t0005g0062 a0001c0015t0005g0063 a0001c0003t0005g0062 a0001c0015t0005g0063	2	418	0.0048	-55	c.128 others(70): Show c.128+731_128+785delTAAAGTATGTTCCCAGCTCGTGTGTACACG CTGGTCACGTGGTATCCAGGCAGGT	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
DUSP4_chr8_29328064_29355684	29329197	TTGTAAGC others(48): Show TTGTAAGCGAGCCATTGTAGATGGCCAGCCCAACCAAACCTTCAAGTAAG GATAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	392	0.0026	-55	c.77 others(66): Show c.7774_*7828delGCTATCCTTACTTGAAGGTTTGGTTGGGCTGGCC ATCTACAATGGCTCGCTTACA	DUSP4	ENSG00000120875.9	transcript	ENST00000240100.7	protein_coding		3866		chr8	TogoVar
DUXA_chr19_57149021_57172485	57171947	GGGCCGCG others(48): Show GGGCCGCGAGCTGGGGTCCGGGGAGCGCGAGCGGGGGTCCGGGGGGCGGG GGCCGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG01109.hp2 others(42): Show HG00408.hp1 HG00544.hp1 HG01109.hp2 HG01257.hp2 HG01358.hp2 HG02015.hp1 HG02027.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02647.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp2 NA18941.hp1 NA18952.hp2 NA18955.hp2 NA18971.hp2 NA18989.hp1 NA18991.hp2 NA19011.hp1 NA19057.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0202 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0247 a0001c0001t0001g0358 a0001c0001t0002g0005 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0359 a0001c0001t0002g0372 a0001c0001t0003g0345 a0001c0001t0003g0346 a0003c0008t0001g0246	45	446	0.1009	-55	c.-45 others(66): Show c.-4559_-4505delGCGGCCCCCGCCCCCCGGACCCCCGCTCGCGCTC CCCGGACCCCAGCTCGCGGCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4463		chr19	TogoVar
DYNC2I1_chr7_158851558_158951189	158877167	CAGGCACC others(48): Show CAGGCACCTGCGGTTCCGGATTGGTGTTCCGCGGTGCGGGTGTGTTGGTG CTCTCG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0194 a0001c0001t0002g0197	2	274	0.0073	-55	c.573 others(70): Show c.573+510_573+564delTGCGGGTGTGTTGGTGCTCTCGAGGCACCT GCGGTTCCGGATTGGTGTTCCGCGG	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
EHMT1_chr9_137614005_137841127	137697973	CTCCCCAC others(48): Show CTCCCCACTGTTGTGAGGGCAGCGTGTGAGGGCGGTGTGGCTCGCGGAGG CCTCAA	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	170	0.0059	-55	c.22- others(72): Show c.22-12983_22-12929delTGTGAGGGCAGCGTGTGAGGGCGGTGTG GCTCGCGGAGGCCTCAATCCCCACTGT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137697984	TGTGAGGG others(48): Show TGTGAGGGCAGCGTGTGAGGGCGGTGTGGCTCGCGGAGGCCTCAATCCCC ACTGTC	T T	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA20805.hp1 HG01993.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0065 a0001c0002t0001g0022 a0001c0002t0001g0065	2	170	0.0118	-55	c.22- others(72): Show c.22-12959_22-12905delTGTGGCTCGCGGAGGCCTCAATCCCCAC TGTCGTGAGGGCAGCGTGTGAGGGCGG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137698008	TGTGGCTC others(48): Show TGTGGCTCGCGGAGGCCTCAATCCCCACTGTCGTGAGGGCAGCGTGTGAG GGCGGC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0116 a0001c0005t0001g0116	1	170	0.0059	-55	c.22- others(72): Show c.22-12939_22-12885delATCCCCACTGTCGTGAGGGCAGCGTGTG AGGGCGGCGTGGCTCGCGGAGGCCTCA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF4H_chr7_74169356_74202096	74194182	TCGGATAA others(48): Show TCGGATAACTGCTTTGTTTACCACACAGGTGCTTTGCTTGTAGAATGGCC CACACC	T T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	374	0.0027	-55	c.470 others(70): Show c.470-558_470-504delCGGATAACTGCTTTGTTTACCACACAGGTG CTTTGCTTGTAGAATGGCCCACACC	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	5/6			chr7	TogoVar

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