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
CSMD1_chr8_2930361_4999914	4486136	TACATACA others(103): Show TACATACATATATATATATATACATACATATATATATATACATACATATA TATATATATATATACATACATATATATATATATATATATACATACATATA TATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0053 a0002c0053	a0002c0053t0022 a0002c0053t0022	a0002c0053t0022g0041 a0002c0053t0022g0041	1	125	0.0080	-110	c.303 others(19): Show c.303-66181_303-66072del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4486142	CATATATA others(103): Show CATATATATATATATACATACATATATATATATACATACATATATATATA TATATATACATACATATATATATATATATATATACATACATATATATATA TATACATACAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0008 a0008	a0008c0088 a0008c0088	a0008c0088t0076 a0008c0088t0076	a0008c0088t0076g0057 a0008c0088t0076g0057	1	123	0.0081	-110	c.303 others(19): Show c.303-66187_303-66078del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CTBP1_chr4_1206445_1254130	1240240	CACTCCCG others(103): Show CACTCCCGGGTGCTGGGTGAGTGGGACCGGGTCCCTCGTCGGAACCGCCT GGGGGGACTCCCGGGTGCTGGGTGAGTGGGAACCGGGTCCCTCGTCGGAA CCGCGTGGGGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02602.hp1 HG00099.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0092 a0001c0001t0002g0093	2	190	0.0105	-110	c.7+9 others(12): Show c.7+975_7+1084del	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	2/9			chr4	TogoVar
CTBP1_chr4_1206445_1254130	1240290	GGGGGGAC others(103): Show GGGGGGACTCCCGGGTGCTGGGTGAGTGGGAACCGGGTCCCTCGTCGGAA CCGCGTGGGGGACTCCCGGGTGCTGGGTGAGTGGGAACCGGGTCCCTCGT CGGAACCGCGT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(171): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02451.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 a0001c0001 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0005t0001 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(135): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0001g0228 a0001c0001t0001g0236 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0326 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0002g0015 a0001c0001t0002g0057 a0001c0001t0002g0273 a0001c0001t0002g0311 a0001c0001t0006g0132 a0001c0001t0006g0133 a0001c0001t0008g0271 a0001c0001t0008g0276 a0001c0001t0010g0082 a0001c0001t0010g0094 a0001c0001t0012g0048 a0001c0001t0014g0139 a0001c0001t0015g0316 a0001c0001t0022g0337 a0001c0005t0001g0013 a0001c0010t0001g0105	174	298	0.5839	-110	c.7+9 others(12): Show c.7+925_7+1034del	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	2/9			chr4	TogoVar
CYTH1_chr17_78669048_78787273	78760375	ATATATAT others(103): Show ATATATATATACACACACATACATATATATATGTGTATATATATATATAT ACACATACATATATATATGTATATATATATACATACATATATATATGTAT ATATATGTATG	A A	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0310	1	376	0.0027	-110	c.22+ others(17): Show c.22+21717_22+21826del	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DBNDD1_chr16_89999871_90024456	90003340	CTCCCTCC others(103): Show CTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGTGGGACTTC TATGACTCCTTCCCCCGGCCCGGGCTACCTTTACATGCACGTGCGGTGGG ACTTCTGTGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	405	0.0025	-110	c.28 others(11): Show c.2885_*2994del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1530		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003399	TTCCCCCG others(103): Show TTCCCCCGGCCCGGGCTACCTTTACATGCACGTGCGGTGGGACTTCTGTG ATTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTT CTATGACTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	392	0.0026	-110	c.28 others(11): Show c.2826_*2935del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1471		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003501	ATGACTCC others(103): Show ATGACTCCCTCCCCCGGCCCGGGCTACCTTTACATGCACGTGCGGTGGGA CTTCTGTGATTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACGTGGGG TGGGACTTCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	359	0.0028	-110	c.27 others(11): Show c.2724_*2833del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1369		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003515	CGGCCCGG others(103): Show CGGCCCGGGCTACCTTTACATGCACGTGCGGTGGGACTTCTGTGATTCCC TCCCCCGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTGTGA CTCCCTCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00673.hp2 others(19): Show HG00544.hp1 HG00597.hp1 HG00673.hp2 HG01069.hp1 HG01891.hp2 HG02559.hp1 HG03017.hp2 HG03209.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18948.hp2 NA18950.hp2 NA18981.hp2 NA18986.hp2 NA19005.hp2 NA19080.hp2 NA19086.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0002t0001 a0001c0002t0011 a0001c0004t0001	a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0079 others(18): Show a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0141 a0001c0001t0001g0216 a0001c0001t0001g0228 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0239 a0001c0001t0002g0252 a0001c0001t0002g0263 a0001c0001t0002g0267 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0002g0290 a0001c0001t0014g0132 a0001c0002t0001g0003 a0001c0002t0011g0059 a0001c0004t0001g0143	22	399	0.0551	-110	c.27 others(11): Show c.2710_*2819del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1355		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003534	ATGCACGT others(103): Show ATGCACGTGCGGTGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCTACC TTTATATGCACGTGGGGTGGGACTTCTGTGACTCCCTCCCCTGGCCCGGG CTACCTTTACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	308	0.0032	-110	c.26 others(11): Show c.2691_*2800del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1336		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003546	TGGGACTT others(103): Show TGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACG TGGGGTGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCTACCTTTACGT GCACGTGGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0251 a0001c0001t0009g0251	1	316	0.0032	-110	c.26 others(11): Show c.2679_*2788del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1324		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003790	TGGCCCGG others(103): Show TGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCC TCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGA TTCCCTCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	289	0.0035	-110	c.24 others(11): Show c.2435_*2544del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1080		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003941	GTGACTCC others(103): Show GTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGA CTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGG CGGGACTTCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01081.hp1 HG01891.hp1 others(3): Show HG00544.hp2 HG01081.hp1 HG01891.hp1 HG02738.hp1 NA18984.hp2 NA19063.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0005t0002	a0001c0001t0001g0164 a0001c0001t0002g0001 a0001c0001t0002g0039 others(3): Show a0001c0001t0001g0164 a0001c0001t0002g0001 a0001c0001t0002g0039 a0001c0001t0003g0011 a0001c0001t0003g0196 a0003c0005t0002g0271	6	368	0.0163	-110	c.22 others(11): Show c.2284_*2393del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		929		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90004051	TTGACTCC others(103): Show TTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGA CTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGG CGGGACTTCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0067 a0001c0002t0001g0068	2	68	0.0294	-110	c.21 others(11): Show c.2174_*2283del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		819		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90004206	TGGGACTT others(103): Show TGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACG TGGGGTGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGT GCACGTGGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 NA18971.hp1 NA18979.hp2 HG02155.hp1 NA18971.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0036 a0001c0002t0001g0003 a0001c0002t0001g0020 a0001c0001t0002g0036 a0001c0002t0001g0003 a0001c0002t0001g0020	3	131	0.0229	-110	c.20 others(11): Show c.2019_*2128del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		664		chr16	TogoVar
DEFB106A_chr8_7820139_7834053	7827165	TATATAGT others(103): Show TATATAGTATAGTGTATATACTAGTATAATACACTAGTATATAGTATAGT GTATATACTAATATATACACTAGTATACAGTATAGTGTATATACTAGTAT AATACTCTAGC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	160	0.0063	-110	c.50- others(15): Show c.50-1580_50-1471del	DEFB106A	ENSG00000186579.3	transcript	ENST00000335186.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLC1_chr8_13078361_13519851	13453392	ATATATAT others(103): Show ATATATATATGTGTATATATATATATATATATGTGTATATATATATGTAT ATATATACATATATATATGTATATATATACATATATATGTATATATATAC ATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG01071.hp1 others(27): Show HG00099.hp2 HG00642.hp2 HG01071.hp1 HG01071.hp2 HG01516.hp2 HG01928.hp2 HG01981.hp2 HG02293.hp2 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 NA18612.hp1 NA18906.hp2 NA18963.hp2 NA18966.hp1 NA18979.hp1 NA18983.hp2 NA18995.hp1 NA19070.hp1 NA19077.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0010 a0023	a0001c0001 a0001c0004 a0001c0015 others(6): Show a0001c0001 a0001c0004 a0001c0015 a0002c0002 a0003c0003 a0005c0008 a0005c0012 a0010c0022 a0023c0044	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0039 a0001c0004t0003 a0001c0004t0029 a0001c0015t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0004 a0005c0008t0003 a0005c0008t0016 a0005c0012t0003 a0010c0022t0025 a0023c0044t0010	a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0069 others(27): Show a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0097 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0002g0070 a0001c0001t0003g0055 a0001c0001t0003g0074 a0001c0001t0003g0090 a0001c0001t0039g0071 a0001c0004t0003g0125 a0001c0004t0003g0162 a0001c0004t0029g0124 a0001c0015t0001g0121 a0002c0002t0001g0073 a0002c0002t0002g0058 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0113 a0002c0002t0002g0122 a0002c0002t0002g0126 a0002c0002t0002g0130 a0003c0003t0004g0146 a0005c0008t0003g0020 a0005c0008t0016g0019 a0005c0012t0003g0021 a0010c0022t0025g0186 a0023c0044t0010g0067	30	210	0.1429	-110	c.102 others(21): Show c.1023+45547_1023+45656del	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLG2_chr11_83450173_85632344	84502202	CCTTCCTT others(103): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	4	0.2500	-110	c.519 others(19): Show c.519+32258_519+32367del	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	7/27			chr11	TogoVar
DLGAP2_chr8_732628_1713476	1024213	ACACCACC others(103): Show ACACCACCCACCCTCCCTGGAAGTGGACAGCCCCGTGCCGAGGCAGACAC CCCAGCCACCACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCA GACACCCCAGC	A A	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0038 a0002c0001t0007g0038	1	34	0.0294	-110	c.73+ others(19): Show c.73+116267_73+116376del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1024243	CCCCGTGC others(103): Show CCCCGTGCCGAGGCAGACACCCCAGCCACCACCCACCCTCCCTGGGGGTG GACAGTCCCGTGCCGAGGCAGACACCCCAGCCACCACCCACCCTCCCTGG GGGTGGACAGT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0021 a0002c0001t0003g0021	1	25	0.0400	-110	c.73+ others(19): Show c.73+116304_73+116413del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1442167	GAGGAGAT others(103): Show GAGGAGATGGATCCAGGCATAGACCTGCCAGGCTGCTGATGGGTTCAGCC ACCGGGGGAGACGGACCCAGGCATAGACCCGCCAGGCTGCTGTGGGTTCA GCCACTGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02074.hp1 HG02895.hp1 others(2): Show HG01496.hp2 HG02074.hp1 HG02895.hp1 HG02922.hp1 HG03516.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0001 a0003c0005 a0001c0003 a0002c0001 a0003c0005	a0001c0003t0001 a0002c0001t0020 a0003c0005t0002 others(1): Show a0001c0003t0001 a0002c0001t0020 a0003c0005t0002 a0003c0005t0004	a0001c0003t0001g0026 a0001c0003t0001g0027 a0002c0001t0020g0024 others(2): Show a0001c0003t0001g0026 a0001c0003t0001g0027 a0002c0001t0020g0024 a0003c0005t0002g0030 a0003c0005t0004g0037	5	40	0.1250	-110	c.107 others(19): Show c.107-59183_107-59074del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH9_chr17_11593470_11974748	11694625	GCTTTCTT others(103): Show GCTTTCTTGCTTTCTTGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGC TTTCTCGCTTTCTCGCTTTCTCGCTTTCTCTCTCTCTCTCTCTCTCTCTC TCTTTCTCTTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0036 a0036	a0036c0094 a0036c0094	a0036c0094t0001 a0036c0094t0001	a0036c0094t0001g0063 a0036c0094t0001g0063	1	176	0.0057	-110	c.487 others(17): Show c.4872+186_4872+295del	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11694655	TCGCTTTC others(103): Show TCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTC TCTCTCTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCCT TCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	146	0.0068	-110	c.487 others(17): Show c.4872+209_4872+318del	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68			chr17	TogoVar
DNM1L_chr12_32674301_32750650	32717341	CTATATAT others(103): Show CTATATATTATATATAGTATATATAATATATATACTATATATAATATATA GTATATATAATATATAATATATATTTTAAATATATACTATATATATTTTA AATATATACTA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	223	0.0045	-110	c.620 others(17): Show c.620-1293_620-1184del	DNM1L	ENSG00000087470.21	transcript	ENST00000549701.6	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
DOC2B_chr17_137789_186650	139560	AGGGCCAC others(103): Show AGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGA AGCACAAGTGCGAAAGTCCCCACAGAGGGGCACACAAATGGGGACATCAG GAACACACTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0113 a0001c0002t0003g0113	1	336	0.0030	-110	c.77 others(11): Show c.7771_*7880del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		3228		chr17	TogoVar
DOCK1_chr10_126900428_127457516	127260633	GTGTGTGT others(103): Show GTGTGTGTACCCGTGCTCATCTGTGTGTGTCCCTGCATGTGTGTGCATGT GGGTGTGTGTGTACTCGTGCTCATCTGTGTGTCCTTGCATGTGTGTGCGT GTGGGTGTGCA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0003 a0004c0020t0003	a0004c0020t0003g0033 a0004c0020t0003g0033	1	134	0.0075	-110	c.304 others(19): Show c.3044+3234_3044+3343del	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	29/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK3_chr3_50669927_51389198	51016220	TATATATC others(103): Show TATATATCATATATTTCTACATATATATATCAATCATATATTTCTACATA TATATCATATATTTCTACATATATATCATATATTTCTACATATATATATC ATATATTTCTA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0190 a0001c0001t0004g0190	1	210	0.0048	-110	c.316 others(19): Show c.316-48227_316-48118del	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DUSP8_chr11_1549051_1577271	1554280	CAGGCAGT others(103): Show CAGGCAGTGGCCAGGTGGGAGGGGCCGGAGAGAGGCTTGGAGAGGACTCA GGGCTGGGTCAGGTGAAAGCCACCAGGTGGGGCCCTGGCCCGCCTCCCGC AGCACTGGAGG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 HG01070.hp1 HG02622.hp1 others(8): Show HG00597.hp2 HG01070.hp1 HG02622.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03209.hp1 HG03471.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0011c0020 a0001c0001 a0001c0002 a0011c0020	a0001c0001t0005 a0001c0001t0013 a0001c0001t0023 others(2): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0023 a0001c0002t0034 a0011c0020t0005	a0001c0001t0005g0016 a0001c0001t0005g0025 a0001c0001t0005g0101 others(4): Show a0001c0001t0005g0016 a0001c0001t0005g0025 a0001c0001t0005g0101 a0001c0001t0013g0046 a0001c0001t0023g0063 a0001c0002t0034g0154 a0011c0020t0005g0099	11	365	0.0301	-110	c.21 others(11): Show c.2128_*2237del	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding	7/7	2128		chr11	TogoVar
ENTPD8_chr9_137429364_137446357	137439973	TCCCCCAG others(103): Show TCCCCCAGACCAGGACAGCCCCCCAGACCAGGACAGCCCCCCCCAGACCA GGAGAGCCCCCCAGACCAGGACACCCCCTCAGACAGAACAGTCCCCCAGA CCAGGACAGCC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02109.hp1 HG02723.hp2 others(2): Show HG01123.hp1 HG02109.hp1 HG02723.hp2 HG03195.hp2 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0022 a0004c0004 a0001c0001 a0001c0022 a0004c0004	a0001c0001t0001 a0001c0022t0001 a0004c0004t0002 a0001c0001t0001 a0001c0022t0001 a0004c0004t0002	a0001c0001t0001g0016 a0001c0022t0001g0038 a0004c0004t0002g0107 a0001c0001t0001g0016 a0001c0022t0001g0038 a0004c0004t0002g0107	5	389	0.0129	-110	c.-21 others(17): Show c.-21+1203_-21+1312del	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ERICH1_chr8_659200_736224	695492	TCTCCTCT others(103): Show TCTCCTCTCCTTCCTCCCCATCAGCCTGCACCTGTGCTTGCTCCTCTCGC CCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCGCCTGTGCTGGCTCCT CTCGCCCTCCA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	108	0.0093	-110	c.170 others(17): Show c.170-2990_170-2881del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	695610	CCTTCCTC others(103): Show CCTTCCTCCCCATCAGCCTGCACCTGTGCTTGCTCCTCTCGCCCTCCACT CCTCTCCTTCCTCCCCATCAGCCTGCACCTGTGCTTGCTCCTCTCGCCCT CCACTCCTCTA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0317 a0001c0001t0002g0317	1	372	0.0027	-110	c.170 others(17): Show c.170-3108_170-2999del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	700236	CCCGCACA others(103): Show CCCGCACAGGCCCGCACACGCGCACAGGCCCGCACAGGCGCACAGACCCG CACAGGCCCGGACACGCGCACAGACCCGCACACGCGCACAGGCCCGCACA CGCGCACAGAT	C C	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	372	0.0027	-110	c.170 others(17): Show c.170-7734_170-7625del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERO1B_chr1_236210101_236286958	236245416	ATATATAT others(103): Show ATATATATACGTATATATATACACACGTATATATATACGTATATATATAC ACACGTATATATATACGTATATATATACACGTATATATATATGTGTGTAT GTATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01981.hp1 HG02559.hp2 others(3): Show HG01069.hp2 HG01981.hp1 HG02559.hp2 HG02809.hp1 HG03579.hp1 NA20752.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0006 a0002c0002t0067 a0004c0006t0005 others(1): Show a0002c0002t0006 a0002c0002t0067 a0004c0006t0005 a0004c0006t0016	a0002c0002t0006g0117 a0002c0002t0067g0100 a0004c0006t0005g0120 others(3): Show a0002c0002t0006g0117 a0002c0002t0067g0100 a0004c0006t0005g0120 a0004c0006t0016g0119 a0004c0006t0016g0121 a0004c0006t0016g0122	6	394	0.0152	-110	c.432 others(17): Show c.432-2031_432-1922del	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
EXOC2_chr6_480154_698139	676840	ACTCTGCG others(103): Show ACTCTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGGTTCCTC TGGAGACTGCGGTTCCCCATACTCTTCAACATTACAGAAAGGACAGGTTC CTCTGAAGACT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0226 a0001c0003t0002g0226	1	269	0.0037	-110	c.-44 others(19): Show c.-44+16069_-44+16178del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOSC3_chr9_37774714_37790064	37781148	GTCAGAGC others(103): Show GTCAGAGCACTTTAATTCTAGACTGGGAATCATAACTTTTTTTATCTACA GTGTTAAGACACTTTAAACTTATTTTCCTGGCCATATTATTCTCTTGTGT TAAATTCAGTA	G G	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	430	0.0023	-110	c.627 others(15): Show c.627-378_627-269del	EXOSC3	ENSG00000107371.14	transcript	ENST00000327304.10	protein_coding	3/3			chr9	TogoVar
EZR_chr6_158760748_158824368	158803544	TGTATATA others(103): Show TGTATATATATATATATATATATATATATATATATATACATATATATATA TATATATATATACATATATATATATATATATACATATACATACATATATA TATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp2 HG03098.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0269 a0001c0001t0001g0270	2	296	0.0068	-110	c.13- others(17): Show c.13-14283_13-14174del	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
FAM9B_chrX_9019232_9039127	9022045	ACATTATG others(103): Show ACATTATGTATAATATATAATATATATTACATTATGTATAATATATAATA TATATTACATTATGTATAATATATAATATATATTACATTATGTATAATAT ATAATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	255	0.0039	-110	c.32 others(11): Show c.3254_*3363del	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		2186		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9022241	TTATATTA others(103): Show TTATATTATGTATAATATATAATATATTATATTATGTATAATATATAATA TATTATATATTATGTATAATATATAATATATTATATATTATGTATAAGAT ATAATATATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	244	0.0041	-110	c.30 others(11): Show c.3058_*3167del	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		1990		chrX	TogoVar
FASTKD1_chr2_169523508_169578865	169561860	AAAATAAT others(103): Show AAAATAATTATTTATTAATTTATTGTAAATTATTTATTATAAATTATTTA TTTATTGTAAATCAATTATTTGTTAATTTATTATAAATTAATTATTAATT TATTGTAAATT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp1 HG02647.hp2 others(1): Show HG02486.hp1 HG02630.hp1 HG02647.hp2 HG03486.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0118 a0002c0004t0001g0119 a0002c0004t0001g0120 others(1): Show a0002c0004t0001g0118 a0002c0004t0001g0119 a0002c0004t0001g0120 a0002c0004t0001g0121	4	380	0.0105	-110	c.573 others(17): Show c.573-1185_573-1076del	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding	4/14			chr2	TogoVar
FBXO11_chr2_47801920_47911498	47901018	TATGTATA others(103): Show TATGTATATATATACACACGTGTGTACATATATACACATATATATGTATA TATATACACACGTGTGTACATATATATACATATATATGTATATATGTACA CACGTGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00609.hp1 others(32): Show HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG01993.hp2 HG02056.hp1 HG02071.hp2 HG02155.hp2 HG02165.hp2 HG03831.hp2 NA18906.hp2 NA18952.hp2 NA18954.hp1 NA18957.hp2 NA18960.hp2 NA18965.hp2 NA18969.hp2 NA18971.hp1 NA18974.hp2 NA18977.hp2 NA18982.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp2 NA19003.hp1 NA19005.hp2 NA19011.hp2 NA19012.hp2 NA19055.hp1 NA19060.hp2 NA19065.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0002c0003 a0005c0006 others(1): Show a0001c0001 a0002c0003 a0005c0006 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0002c0003t0001 a0005c0006t0001 a0006c0008t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(32): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0002g0180 a0001c0001t0008g0010 a0001c0001t0012g0175 a0001c0001t0017g0309 a0001c0001t0019g0311 a0002c0003t0001g0015 a0005c0006t0001g0051 a0006c0008t0001g0304	35	316	0.1108	-110	c.232 others(17): Show c.232+4361_232+4470del	FBXO11	ENSG00000138081.22	transcript	ENST00000403359.8	protein_coding	1/22			chr2	TogoVar
FGL1_chr8_17859389_17900524	17875481	CTCTTTCT others(103): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	178	0.0056	-110	c.245 others(16): Show c.245-1070_245-961del	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	3/7			chr8	TogoVar
FMN1_chr15_32760544_33199714	32949944	TATATATA others(103): Show TATATATATATATATATATATACACACATATATATACACACACATATATA TACACATACACATATATATATACACATATATATATATATACACATATATA TATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01255.hp1 HG02109.hp1 others(6): Show HG00738.hp1 HG01255.hp1 HG02109.hp1 HG02886.hp1 HG03490.hp1 HG03492.hp2 HG03579.hp2 NA19011.hp2 NA19057.hp1	a0001 a0003 a0012 others(4): Show a0001 a0003 a0012 a0024 a0027 a0037 a0054	a0001c0001 a0001c0051 a0003c0004 others(5): Show a0001c0001 a0001c0051 a0003c0004 a0012c0029 a0024c0031 a0027c0067 a0037c0069 a0054c0063	a0001c0001t0023 a0001c0051t0075 a0003c0004t0083 others(5): Show a0001c0001t0023 a0001c0051t0075 a0003c0004t0083 a0012c0029t0029 a0024c0031t0020 a0027c0067t0009 a0037c0069t0003 a0054c0063t0003	a0001c0001t0023g0109 a0001c0051t0075g0143 a0003c0004t0083g0098 others(6): Show a0001c0001t0023g0109 a0001c0051t0075g0143 a0003c0004t0083g0098 a0012c0029t0029g0004 a0024c0031t0020g0076 a0024c0031t0020g0077 a0027c0067t0009g0092 a0037c0069t0003g0041 a0054c0063t0003g0183	9	191	0.0471	-110	c.313 others(21): Show c.3138+14053_3138+14162del	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	9/20			chr15	TogoVar
FNDC10_chr1_1593012_1605135	1594250	GGCCATCG others(103): Show GGCCATCGCTGTGGGCCAGGCTCTGGAGGTGAGCAGGGAGGCCTAGGGTT CTGTTTTGGACACAAAAGGGGTGAGAGGCCCCCTGAGTGATCGAAGTGAA AACTTCAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	404	0.0025	-110	c.49 others(11): Show c.4975_*5084del	FNDC10	ENSG00000228594.4	transcript	ENST00000422725.4	protein_coding		3761		chr1	TogoVar
FOLR1_chr11_72187140_72201299	72201189	CACGTATA others(103): Show CACGTATACGTATGTACACGTATACACGTATACGTATGTACACGTATACA CGTATACGTATGTACACGTATACACGTATACGTATGTACACGTATACACG TATACGTATGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	409	0.0024	-110	c.50 others(11): Show c.5013_*5122del	FOLR1	ENSG00000110195.14	transcript	ENST00000393676.5	protein_coding		4891		chr11	TogoVar
FUNDC1_chrX_44518639_44547859	44531247	AACACACA others(103): Show AACACACACACACACACACACACACACACACACACACACGGCTTTCAGAT GAAGATTCATGTTGGCCAGACACACACACACACACACACACACACACACA CACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG03139.hp1 HG01884.hp2 HG02280.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0216 a0001c0001t0001g0037 a0001c0001t0001g0216	3	213	0.0141	-110	c.262 others(17): Show c.262-3992_262-3883del	FUNDC1	ENSG00000069509.6	transcript	ENST00000378045.5	protein_coding	3/4			chrX	TogoVar
GAL3ST2_chr2_241771822_241809287	241805563	CCCCTCAG others(103): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0118 a0002c0002t0002g0118	1	292	0.0034	-110	c.13 others(11): Show c.1398_*1507del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1277		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805676	CCCCTCAG others(103): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG03516.hp1 HG02148.hp1 HG03516.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0002g0133 a0003c0003t0001g0013 a0002c0002t0002g0133 a0003c0003t0001g0013	2	297	0.0067	-110	c.15 others(11): Show c.1511_*1620del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1390		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806231	CCCCTCAG others(103): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCC GCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	303	0.0033	-110	c.20 others(11): Show c.2066_*2175del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1945		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806918	TCCCCCCT others(103): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02735.hp2 HG03130.hp1 others(1): Show HG00639.hp2 HG02735.hp2 HG03130.hp1 NA18982.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0001c0001t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0001g0067 a0001c0001t0002g0154 a0003c0003t0001g0040 others(1): Show a0001c0001t0001g0067 a0001c0001t0002g0154 a0003c0003t0001g0040 a0003c0003t0001g0206	4	281	0.0142	-110	c.27 others(11): Show c.2753_*2862del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2632		chr2	TogoVar
GDF2_chr10_47317454_47332588	47329465	GTGAGTGA others(103): Show GTGAGTGATGCGGTGTGTGCACCCTGGGATGAGTGATGCGGTGTGTGCAC ACTGGGGTGAGTGATGTGTGTGCACACTGAGGGGGGTGAGTGATGTGTGT GCACACTGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0027 a0009c0007t0027	a0009c0007t0027g0006 a0009c0007t0027g0006	1	422	0.0024	-110	c.36 others(11): Show c.3682_*3791del	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		1878		chr10	TogoVar

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