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
SIPA1L2_chr1_232392965_232635133	232415723	CAGTCAGT others(106): Show CAGTCAGTCAGAACACGGGCACCACTGCCCCCTCCCAGAGTCAGTCAGAA CACGGGCACCACTGTCCCTCCCAGAGTCAGTCAGTCAGAACACGGGCACC ACTGTCCCTCCCAG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0060 a0002c0060	a0002c0060t0003 a0002c0060t0003	a0002c0060t0003g0275 a0002c0060t0003g0275	1	289	0.0035	-113	c.463 others(16): Show c.4631-211_4631-99del	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	18/22			chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1070235	GAGCCCCC others(106): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGG CATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	117	0.0085	-113	c.224 others(19): Show c.2241+3285_2241+3397del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070961	CCCCCAGC others(106): Show CCCCCAGCACACGGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGC ACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCA TCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0020 a0001c0018t0020	a0001c0018t0020g0076 a0001c0018t0020g0076	1	117	0.0085	-113	c.224 others(19): Show c.2241+2559_2241+2671del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC25A11_chr17_4932130_4945046	4944835	AAGAGGAG others(106): Show AAGAGGAGGGTGATGAAGGGGAGCCAAGGGACCACCCTGCCTCAGAAAGG ACCCCACTTTTGGGTTCTAGCCCCACTCTTCCCACCTCCTTTGGTTCCTT AGCCCCAGCTCCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	-113	c.-50 others(11): Show c.-5038_-4926del	SLC25A11	ENSG00000108528.14	transcript	ENST00000225665.12	protein_coding		4790		chr17	TogoVar
SLC25A24_chr1_108129043_108205343	108160336	GCTCCTCA others(106): Show GCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCC CAGACGATGGGCGGCCGGGCAGAGACGCTCACTTCCTAGACAGGATGGCG GCCGGGCAGAGACA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02735.hp2 HG03017.hp2 HG01099.hp1 HG02735.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0228 a0001c0001t0001g0264 a0001c0001t0001g0217 a0001c0001t0001g0228 a0001c0001t0001g0264	3	372	0.0081	-113	c.510 others(15): Show c.510+733_510+845del	SLC25A24	ENSG00000085491.17	transcript	ENST00000565488.6	protein_coding	4/9			chr1	TogoVar
SLC39A14_chr8_22362278_22427736	22396419	GGGGAGAG others(106): Show GGGGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0168 a0001c0005t0003g0168	1	321	0.0031	-113	c.-15 others(17): Show c.-15-8273_-15-8161del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC66A2_chr18_79897420_79956653	79919693	GGGGAGAG others(106): Show GGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAG GAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAG AGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02155.hp2 NA18972.hp1 others(3): Show HG00597.hp1 HG02155.hp2 NA18972.hp1 NA19062.hp1 NA19084.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0015 a0001c0001t0004g0123 a0001c0001t0004g0133 others(3): Show a0001c0001t0004g0015 a0001c0001t0004g0123 a0001c0001t0004g0133 a0001c0001t0004g0137 a0001c0001t0004g0179 a0001c0001t0009g0131	6	340	0.0176	-113	c.392 others(15): Show c.392-406_392-294del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920037	GAGGAGAG others(106): Show GAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGGAGGAGAGACA GGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACGGAACCGAGGGAG AGGTCAGGGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0148 a0001c0001t0005g0148	1	345	0.0029	-113	c.392 others(15): Show c.392-750_392-638del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920124	GGAACCGA others(106): Show GGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGT CAGTGAGGAGAGAC	G G	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	349	0.0029	-113	c.392 others(15): Show c.392-837_392-725del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920191	AGGAGAGA others(106): Show AGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGA ACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAG GTCAAGGTCAGTGG	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0238 a0001c0001t0005g0238	1	344	0.0029	-113	c.392 others(15): Show c.392-904_392-792del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921012	GGAGAGGT others(106): Show GGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAG AGATGGAACCGAGT	G G	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18982.hp2 NA18991.hp2 others(2): Show NA18963.hp2 NA18982.hp2 NA18991.hp2 NA18998.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0038 a0001c0001t0004 a0001c0001t0038	a0001c0001t0004g0026 a0001c0001t0004g0169 a0001c0001t0004g0176 others(2): Show a0001c0001t0004g0026 a0001c0001t0004g0169 a0001c0001t0004g0176 a0001c0001t0004g0270 a0001c0001t0038g0128	5	333	0.0150	-113	c.392 others(17): Show c.392-1725_392-1613del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921067	TGAGGAGA others(106): Show TGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATG GAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAG AGGTCAGGGTCAGA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03225.hp2 HG03041.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0171 a0001c0001t0010g0174 a0001c0001t0010g0171 a0001c0001t0010g0174	2	334	0.0060	-113	c.392 others(17): Show c.392-1780_392-1668del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921585	GGAGAGGT others(106): Show GGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAG AGATGGAACCGAGT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03927.hp2 HG02630.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0034 a0001c0001t0005 a0001c0001t0034	a0001c0001t0005g0203 a0001c0001t0034g0279 a0001c0001t0005g0203 a0001c0001t0034g0279	2	342	0.0058	-113	c.392 others(17): Show c.392-2298_392-2186del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLX9_chr21_44935029_44981973	44981515	AGACAGCG others(106): Show AGACAGCGGGGCCTGGATGGGCCCTGCACACAGAGCCTGCGTGTGGTGTT CACGGGGGACAGCGGGGCCCGGACGGGGCCCTGCACACAGAGCCTGCGTG TGGTGTTCAGAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	331	0.0030	-113	c.47 others(11): Show c.4713_*4825del	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		4543		chr21	TogoVar
SLX9_chr21_44935029_44981973	44981532	TGGGCCCT others(106): Show TGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCACGGGGGACAGCGGGG CCCGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGAC AGCGGGGCCTGGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 NA19072.hp2 NA19084.hp1 HG02602.hp1 NA19072.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0071 a0001c0001t0001g0150 a0001c0001t0001g0009 a0001c0001t0001g0071 a0001c0001t0001g0150	3	311	0.0096	-113	c.47 others(11): Show c.4730_*4842del	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		4560		chr21	TogoVar
SLX9_chr21_44935029_44981973	44981851	GGGGGGAC others(106): Show GGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTG GTGTTCAGGGGGGACAGCGGGGCCTGGACGGGCCCTGCACACAGAGCCTG CGTGTGGTGTTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	293	0.0034	-113	c.50 others(11): Show c.5049_*5161del	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		4879		chr21	TogoVar
SNTG2_chr2_945849_1372613	1342363	CCCCCTGT others(106): Show CCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTCGCACTTTT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02647.hp2 HG02717.hp1 others(8): Show HG01169.hp2 HG02647.hp2 HG02717.hp1 HG02886.hp1 HG02970.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03579.hp2 NA18522.hp1 NA19030.hp2	a0004 a0005 a0006 a0004 a0005 a0006	a0004c0004 a0005c0006 a0005c0015 others(1): Show a0004c0004 a0005c0006 a0005c0015 a0006c0010	a0004c0004t0001 a0004c0004t0002 a0005c0006t0001 others(3): Show a0004c0004t0001 a0004c0004t0002 a0005c0006t0001 a0005c0006t0002 a0005c0015t0001 a0006c0010t0001	a0004c0004t0001g0149 a0004c0004t0002g0074 a0005c0006t0001g0079 others(8): Show a0004c0004t0001g0149 a0004c0004t0002g0074 a0005c0006t0001g0079 a0005c0006t0001g0081 a0005c0006t0001g0082 a0005c0006t0001g0083 a0005c0006t0001g0085 a0005c0006t0001g0086 a0005c0006t0002g0003 a0005c0015t0001g0153 a0006c0010t0001g0043	11	187	0.0588	-113	c.148 others(21): Show c.1489-24875_1489-24763del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1342468	CGCACTTT others(106): Show CGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGC GGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 NA18970.hp1 HG02145.hp1 HG02258.hp2 NA18970.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0006c0009 a0004c0004 a0006c0009	a0004c0004t0001 a0006c0009t0001 a0004c0004t0001 a0006c0009t0001	a0004c0004t0001g0150 a0004c0004t0001g0151 a0006c0009t0001g0129 a0004c0004t0001g0150 a0004c0004t0001g0151 a0006c0009t0001g0129	3	182	0.0165	-113	c.148 others(21): Show c.1489-24862_1489-24750del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1343160	CCCCCTGT others(106): Show CCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTCGCACTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG01257.hp1 others(3): Show HG00438.hp2 HG00642.hp2 HG01257.hp1 HG02148.hp2 HG02273.hp2 NA18963.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0013 a0001c0001 a0001c0002 a0010c0013	a0001c0001t0001 a0001c0002t0001 a0010c0013t0001 a0001c0001t0001 a0001c0002t0001 a0010c0013t0001	a0001c0001t0001g0026 a0001c0001t0001g0078 a0001c0001t0001g0179 others(3): Show a0001c0001t0001g0026 a0001c0001t0001g0078 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0002t0001g0170 a0010c0013t0001g0166	6	185	0.0324	-113	c.148 others(21): Show c.1489-24078_1489-23966del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1343543	GGCAGCTT others(106): Show GGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGC TCTGTAGGACAGCA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0033 a0006c0010t0001g0033	1	169	0.0059	-113	c.148 others(21): Show c.1489-23737_1489-23625del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1344973	CCCCCTGT others(106): Show CCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTCGCACTTTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03209.hp1 HG03225.hp1 HG02630.hp1 HG03209.hp1 HG03225.hp1	a0004 a0004	a0004c0004 a0004c0014 a0004c0004 a0004c0014	a0004c0004t0001 a0004c0014t0002 a0004c0004t0001 a0004c0014t0002	a0004c0004t0001g0180 a0004c0004t0001g0181 a0004c0014t0002g0001 a0004c0004t0001g0180 a0004c0004t0001g0181 a0004c0014t0002g0001	3	188	0.0160	-113	c.148 others(21): Show c.1489-22328_1489-22216del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1345196	TTTTCCCC others(106): Show TTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCA GCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAA GAGTGGACTGGCAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG01074.hp2 others(9): Show HG00323.hp1 HG00735.hp2 HG01074.hp2 HG01081.hp1 HG01361.hp2 HG02280.hp1 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp1 HG03831.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0011	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0008c0031 a0011c0020	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0005t0001 a0008c0031t0001 a0011c0020t0001	a0001c0001t0001g0012 a0001c0001t0001g0056 a0001c0001t0001g0090 others(9): Show a0001c0001t0001g0012 a0001c0001t0001g0056 a0001c0001t0001g0090 a0001c0001t0001g0114 a0001c0002t0001g0186 a0002c0003t0001g0094 a0002c0003t0001g0109 a0002c0003t0001g0167 a0002c0005t0001g0133 a0008c0031t0001g0117 a0011c0020t0001g0110 a0011c0020t0001g0115	12	188	0.0638	-113	c.148 others(21): Show c.1489-22038_1489-21926del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46170014	CCCTGCTC others(106): Show CCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCTGCTCTGTG AGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTTTGTGAGCATCCTCTG TGGATGGGGAGGAG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01106.hp1 HG01167.hp1 others(6): Show HG01069.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01346.hp1 HG01943.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0030 a0001c0001t0002 a0001c0001t0011 a0001c0001t0030	a0001c0001t0002g0011 a0001c0001t0002g0062 a0001c0001t0002g0063 others(5): Show a0001c0001t0002g0011 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0011g0034 a0001c0001t0011g0066 a0001c0001t0011g0067 a0001c0001t0030g0065	9	250	0.0360	-113	c.194 others(17): Show c.194-1469_194-1357del	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
SPIRE2_chr16_89823475_89876319	89852445	CTCCCCAC others(106): Show CTCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCC CCAGATCCCATGGCCCATCTTCCATCCTCCCTCCACCCCCCGGATCCCCT GGCCCATCTTCCGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18747.hp1 HG00408.hp1 NA18747.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0027 a0003c0004t0001g0059 a0003c0004t0001g0027 a0003c0004t0001g0059	2	353	0.0057	-113	c.645 others(17): Show c.645+1786_646-1728del	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14			chr16	TogoVar
SRPK1_chr6_35827966_35926098	35842225	AAAAACTG others(106): Show AAAAACTGGGTAAAGAATGAACCACTGATATATACAGAAAGGAAGATAAC TAGATGTTGAAGAAAAAATTGTCCAGCACACAGAAGTTTTAGGTGAACTG TGGCCTTTTGACTC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	340	0.0029	-113	c.169 others(17): Show c.1690+197_1690+309del	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	14/15			chr6	TogoVar
STAC_chr3_36375504_36553007	36398517	AAGAGAGA others(106): Show AAGAGAGAGAAAGAAAGAAAGAGAGGTAAAGAGAAAGAGAGAGGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGGAAGGAGGGAAG GAAGAGAAAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03516.hp1 HG03195.hp1 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0004 a0003c0004t0001 a0001c0001t0004 a0003c0004t0001	a0001c0001t0004g0235 a0003c0004t0001g0244 a0001c0001t0004g0235 a0003c0004t0001g0244	2	311	0.0064	-113	c.111 others(19): Show c.111+17769_111+17881del	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMPRSS4_chr11_118072078_118126890	118096928	GAAAGAAA others(106): Show GAAAGAAAGAGAAAGAAAGAAAGGAAGGAAAGAAAGAAAGGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	367	0.0027	-113	c.44- others(15): Show c.44-2056_44-1944del	TMPRSS4	ENSG00000137648.19	transcript	ENST00000437212.8	protein_coding	2/12			chr11	TogoVar
TRERF1_chr6_42219931_42456926	42262434	CAGAGAGA others(106): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18906.hp2 HG02723.hp2 NA18906.hp2	a0001 a0015 a0001 a0015	a0001c0004 a0015c0038 a0001c0004 a0015c0038	a0001c0004t0025 a0015c0038t0034 a0001c0004t0025 a0015c0038t0034	a0001c0004t0025g0027 a0015c0038t0034g0180 a0001c0004t0025g0027 a0015c0038t0034g0180	2	50	0.0400	-113	c.188 others(17): Show c.1884+773_1884+885del	TRERF1	ENSG00000124496.13	transcript	ENST00000695948.1	protein_coding	8/17			chr6	TogoVar
TRPM4_chr19_49152792_49216836	49156859	CTCTCTGG others(106): Show CTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCTCCTCTCTCT CTGGGTCTCTGTTCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGT CTCTGTCCCCGTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0123 a0002c0033t0001g0123	1	308	0.0032	-113	c.-10 others(10): Show c.-1007_-895del	TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding		932		chr19	TogoVar
TUBGCP2_chr10_133273635_133313872	133291635	CTCCGTGT others(106): Show CTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACC TGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGT GTCCCCGTGTCCCT	C C	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	280	0.0036	-113	c.121 others(17): Show c.1214+751_1214+863del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291710	GTCCGTGT others(106): Show GTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCGCCCTCCGT GTCCCCCATGTCCC	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02970.hp1 HG01123.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0206 a0001c0001t0001g0097 a0001c0001t0001g0206	2	232	0.0086	-113	c.121 others(17): Show c.1214+676_1214+788del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133292095	GTGTCCCT others(106): Show GTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGGGAGC CCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCC CTCCGTGTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0093 a0002c0003t0002g0093	1	273	0.0037	-113	c.121 others(17): Show c.1214+291_1214+403del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
UNC13A_chr19_17596336_17693354	17631000	GCTGCCCA others(106): Show GCTGCCCATGGCAAGTGGGTTTATTCTCTGAGTCCTCTCTGAGTCCTCCG TCCATCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCTTCAGATAAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03540.hp2 HG02145.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0019 a0001c0007 a0002c0019	a0001c0007t0003 a0002c0019t0003 a0001c0007t0003 a0002c0019t0003	a0001c0007t0003g0072 a0002c0019t0003g0074 a0001c0007t0003g0072 a0002c0019t0003g0074	2	315	0.0063	-113	c.342 others(17): Show c.3429-363_3429-251del	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	28/43			chr19	TogoVar
VCX3B_chrX_8459830_8471510	8467158	AGGGAGGG others(106): Show AGGGAGGGAGGAAGAGGTGGTGTGTGTGTGGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02818.hp2 HG02970.hp1 others(1): Show HG02451.hp1 HG02818.hp2 HG02970.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0002 a0001c0009 a0002c0002	a0001c0009t0002 a0002c0002t0002 a0001c0009t0002 a0002c0002t0002	a0001c0009t0002g0001 a0002c0002t0002g0001 a0001c0009t0002g0001 a0002c0002t0002g0001	4	268	0.0149	-113	c.77 others(9): Show c.776_*888del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		649		chrX	TogoVar
ZC3H12B_chrX_65029826_65512887	65065129	TAGCCCAT others(106): Show TAGCCCATTTACTTTTAAGGTCAATATTGTTTTGTTTGAATTGGATCCTG TCATTATGATGGTAGCTAGTTATTTTACCCATTAATTGATGCAGTTTCTT CATAGTGTTGATAG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02647.hp1 HG01081.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0006 a0001c0001t0004g0004 a0001c0001t0004g0006	2	165	0.0121	-113	c.-63 others(21): Show c.-636-10714_-636-10602del	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	1/9			chrX	TogoVar
ZMAT4_chr8_40525590_40902826	40601625	AGAAAGAA others(106): Show AGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGCAG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	221	0.0045	-113	c.578 others(19): Show c.578-20477_578-20365del	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	5/6			chr8	TogoVar
ZNF835_chr19_56656980_56676757	56669552	GTCCTCCA others(106): Show GTCCTCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATT AGCATAAATGTACTTGGGGGCCTACCAGGAGTCCTCCATTAGCATAAATG TACTTGGGGGCCTA	G G	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	448	0.0022	-113	c.-48 others(17): Show c.-48+1911_-48+2023del	ZNF835	ENSG00000127903.14	transcript	ENST00000537055.4	protein_coding	1/1			chr19	TogoVar
ZNF888_chr19_52899415_52928428	52903906	AACAAAAG others(106): Show AACAAAAGTGCCAATGCAGGCATGCTGTGGGTGATCAGGCCACGCTTCCA CTCAGATGGAGTGGGGCAAGTTCCAAAGACTAGTCTTACTAAGTAAAGCC AAGTCAAAACCAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0278 a0001c0004t0007g0278	1	424	0.0024	-113	c.21 others(11): Show c.2146_*2258del	ZNF888	ENSG00000213793.6	transcript	ENST00000638862.2	protein_coding		508		chr19	TogoVar
ZNF888_chr19_52899415_52928428	52903921	GCAGGCAT others(106): Show GCAGGCATGCTGTGGGTGATCAGGCCACGCTTCCACTCAGATGGAGTGGG GCAAGTTCCAAAGACTAGTCTTACTAAGTAAAGCCAAGTCAAAACCAGGA CAAAAGTGCCAATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0104 a0001c0008t0005g0104	1	424	0.0024	-113	c.21 others(11): Show c.2131_*2243del	ZNF888	ENSG00000213793.6	transcript	ENST00000638862.2	protein_coding		493		chr19	TogoVar
ZSWIM7_chr17_15971560_16004704	15979799	CCCCCCCA others(106): Show CCCCCCCACCTCCCTCCCGGACGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGGGCTGAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01257.hp1 HG01192.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0001 a0001c0001t0003g0102 a0001c0001t0002g0001 a0001c0001t0003g0102	2	342	0.0058	-113	c.306 others(17): Show c.306+1128_306+1240del	ZSWIM7	ENSG00000214941.8	transcript	ENST00000399277.6	protein_coding	4/4			chr17	TogoVar
ACAD8_chr11_134248568_134270855	134259357	CTCAGTCT others(105): Show CTCAGTCTCTGTGCCATTGGACCTTATTGTCAGTCTCTGTGCCATTGGAC CTTATTGTCAGTCTCTGTGCCATTGGACCTTATTGTCAGTCTCTGTGCCA TTGGACCTTATTG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02280.hp1 others(13): Show HG02109.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG06807.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0054 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0054	16	425	0.0376	-112	c.568 others(14): Show c.568-190_568-79del	ACAD8	ENSG00000151498.12	transcript	ENST00000281182.9	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACAP3_chr1_1287391_1312930	1288262	TCTCTGCT others(105): Show TCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA19000.hp1 NA18955.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0013 a0001c0001t0001g0016	2	288	0.0069	-112	c.51 others(11): Show c.5190_*5301del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4128		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288836	TGTCTCTG others(105): Show TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTG TTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	291	0.0034	-112	c.46 others(11): Show c.4616_*4727del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3554		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288999	CCGTGTCT others(105): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGT GTCCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	291	0.0034	-112	c.44 others(11): Show c.4453_*4564del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3391		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289263	CCCCGTGT others(105): Show CCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0108 a0001c0016t0002g0108	1	260	0.0038	-112	c.41 others(11): Show c.4189_*4300del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3127		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289615	TCCCGTGT others(105): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 NA19066.hp1 HG02165.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	250	0.0080	-112	c.38 others(11): Show c.3837_*3948del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2775		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289653	CCGTGTCC others(105): Show CCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0010 a0001c0003t0002g0010	1	292	0.0034	-112	c.37 others(11): Show c.3799_*3910del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2737		chr1	TogoVar
ACTR3B_chr7_152754752_152860378	152785374	TGTGAGGG others(105): Show TGTGAGGGGGGGGGGAGGGGAGGGGGAGGGGGAGAGGGAGGGAGAGGGAG GGAGAGAGAGGGGGAGGGGGAGGGGGGAGAGGGGGGAGGGGGAGGGGGAG GGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02486.hp2 others(5): Show HG02280.hp2 HG02451.hp2 HG02486.hp2 HG03139.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0168 a0001c0001t0003g0170 a0001c0001t0003g0173 others(5): Show a0001c0001t0003g0168 a0001c0001t0003g0170 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0260 a0001c0001t0003g0268 a0001c0003t0003g0169	8	305	0.0262	-112	c.100 others(17): Show c.100+2134_100+2245del	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAMTS17_chr15_99966437_100346975	100102365	CGAAGGGG others(105): Show CGAAGGGGATCTACATTTGAGGGCCGACCGAAGGGGATCTACATTTGAGG GCCGACCGAAGGGGATCTACATTTGAGGGCCGACCAAAGGGGATCTACAT TTGAGGGCCAACT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00558.hp2 others(19): Show HG00280.hp2 HG00323.hp1 HG00558.hp2 HG00642.hp1 HG00741.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01433.hp1 HG01981.hp2 HG02572.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 NA18955.hp2 NA18984.hp2 NA19043.hp1 NA19081.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0009	a0001c0002 a0001c0010 a0001c0014 others(17): Show a0001c0002 a0001c0010 a0001c0014 a0001c0017 a0001c0033 a0001c0071 a0001c0073 a0002c0001 a0002c0004 a0002c0011 a0002c0022 a0002c0056 a0002c0061 a0003c0012 a0003c0013 a0003c0015 a0003c0041 a0004c0003 a0005c0044 a0009c0027	a0001c0002t0012 a0001c0010t0005 a0001c0014t0006 others(18): Show a0001c0002t0012 a0001c0010t0005 a0001c0014t0006 a0001c0017t0002 a0001c0033t0015 a0001c0071t0004 a0001c0073t0002 a0002c0001t0056 a0002c0004t0007 a0002c0011t0042 a0002c0022t0004 a0002c0056t0022 a0002c0061t0011 a0003c0012t0001 a0003c0013t0048 a0003c0015t0001 a0003c0015t0003 a0003c0041t0001 a0004c0003t0001 a0005c0044t0013 a0009c0027t0001	a0001c0002t0012g0106 a0001c0010t0005g0095 a0001c0014t0006g0122 others(19): Show a0001c0002t0012g0106 a0001c0010t0005g0095 a0001c0014t0006g0122 a0001c0017t0002g0173 a0001c0033t0015g0178 a0001c0071t0004g0182 a0001c0073t0002g0188 a0002c0001t0056g0146 a0002c0004t0007g0204 a0002c0011t0042g0111 a0002c0022t0004g0097 a0002c0056t0022g0073 a0002c0061t0011g0091 a0003c0012t0001g0189 a0003c0013t0048g0143 a0003c0015t0001g0159 a0003c0015t0003g0041 a0003c0041t0001g0102 a0004c0003t0001g0172 a0004c0003t0001g0197 a0005c0044t0013g0005 a0009c0027t0001g0216	22	221	0.0995	-112	c.201 others(19): Show c.2017-6001_2017-5890del	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	14/21			chr15	TogoVar
ADAMTS2_chr5_179105853_179350461	179134737	AGCTCCAG others(105): Show AGCTCCAGCTCCCGGCTCCAGCTCCAGCTCCCGGCTCCATCCCCCAGCTC CCGGCTCCAGCCCCCAGCTCCCGGCTCCAGCCCCCAGCTCCCGGCTCCAG CCCCCAGCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0099 a0003c0002t0001g0099	1	274	0.0036	-112	c.208 others(19): Show c.2085+1060_2085+1171del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	13/21			chr5	TogoVar

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