Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SRXN1_chr20_641615_658200	642068	G G	GGGGGGGG others(187): Show GGGGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCAG GGGTGGAGTTGCCTGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGGCCCAGTGGGGGTGGAGTTGCCTGGTGGGGGGAGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0116 a0001c0001t0007g0116	1	400	0.0025	194	c.66 others(205): Show c.6645_*6646insGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCACCAGGCAACTCCACCCCCAC TGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCAGG CAACTCCACCCCTGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGG GGCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4546		chr20	TogoVar
SVEP1_chr9_110360248_110584741	110390353	A A	ATATAAGT others(187): Show ATATAAGTATGTGTATATATACTTATATATATACTTATATAAGTATATAT ATACTTATATATATACTTATATAAGTATATATATACTTATATATATACTT ATATAAGTATATATATACTTATATATATACTTATATAAGTATATATATAC TTATATATATACTTATATATATACTTATATAAGTATATATATACT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0008 a0008	a0008c0059 a0008c0059	a0008c0059t0003 a0008c0059t0003	a0008c0059t0003g0127 a0008c0059t0003g0128 a0008c0059t0003g0127 a0008c0059t0003g0128	2	237	0.0084	194	c.982 others(211): Show c.9823-767_9823-766insAGTATATATATACTTATATAAGTATATA TATAAGTATATATATAAGTATATATATACTTATATAAGTATATATATAAG TATATATATACTTATATAAGTATATATATAAGTATATATATACTTATATA AGTATATATATAAGTATATATATACTTATATAAGTATATATATAAGTATA TATACACATACTTATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
TANC2_chr17_62961235_63432703	62996974	T T	TGGCTAAT others(187): Show TGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp2 HG00733.hp2 others(15): Show HG00621.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp2 HG01109.hp1 HG01243.hp2 HG01256.hp1 HG01978.hp2 HG02135.hp2 HG03688.hp2 HG03831.hp2 HG03927.hp2 NA18950.hp1 NA18979.hp1 NA18981.hp2 NA18986.hp1 NA19002.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0028 a0001c0001t0001 a0001c0001t0002 a0001c0001t0028	a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0239 others(15): Show a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0002g0249 a0001c0001t0028g0234	18	128	0.1406	194	c.-23 others(213): Show c.-23-12543_-23-12542insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGG CTAATTTTTTGTATTTTT	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
TARBP1_chr1_234386313_234484179	234397802	G G	GAGGGGGA others(187): Show GAGGGGGAGGAGGTGGGGAAGAGGGGGAGGGGGGGAGGGGGAAGGGGGAG GAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGGGGAAGGAGGGGGAAAG AGGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGGTAGAGGGAG GGGACGGGAGGAGGGAGGGGAGGGGGAAGAGGGGGAGGAGGTGGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0006 a0006	a0006c0029 a0006c0029	a0006c0029t0002 a0006c0029t0002	a0006c0029t0002g0255 a0006c0029t0002g0255	1	148	0.0068	194	c.424 others(211): Show c.4243+579_4243+580insTCCACCTCCTCCCCCTCTTCCCCCTCCC CTCCCTCCTCCCGTCCCCTCCCTCTACCCCCTCCCCTCCCTCCTCCCCTC CCCTCCCTCTTCACCCTCTTTCCCCCTCCTTCCCCTCCCCCTTCTTCCCC TCTTCCCCCTCCCCCTCCTCCCCCTTCCCCCTCCCCCCCTCCCCCTCTTC CCCACCTCCTCCCCCT	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TARBP1_chr1_234386313_234484179	234397802	G G	GAGGGGGA others(187): Show GAGGGGGAGGAGGTGGGGGAAGAGGGGGAAGGGGGAGGGGGAAGGGGGAG GAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGGGGAAGGAGGGGGAAAG AGGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGGTAGAGGGAG GGGACGGGAGGAGGGAGGGGAGGGGGAAGAGGGGGAGGAGGTGGA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18983.hp2 NA19004.hp1 others(1): Show NA18945.hp1 NA18983.hp2 NA19004.hp1 NA19086.hp2	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0001 a0014c0017t0001	a0014c0017t0001g0040 a0014c0017t0001g0041 a0014c0017t0001g0042 others(1): Show a0014c0017t0001g0040 a0014c0017t0001g0041 a0014c0017t0001g0042 a0014c0017t0001g0043	4	151	0.0265	194	c.424 others(211): Show c.4243+579_4243+580insTCCACCTCCTCCCCCTCTTCCCCCTCCC CTCCCTCCTCCCGTCCCCTCCCTCTACCCCCTCCCCTCCCTCCTCCCCTC CCCTCCCTCTTCACCCTCTTTCCCCCTCCTTCCCCTCCCCCTTCTTCCCC TCTTCCCCCTCCCCCTCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCTTCC CCCACCTCCTCCCCCT	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TARBP1_chr1_234386313_234484179	234397802	G G	GAGGGGGA others(187): Show GAGGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGGGAGGGGGAAGGGGGAG GAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGGGGAAGGAGGGGGAAAG AGGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGGTAGAGGGAG GGGACGGGAGGAGGGAGGGGAGGGGGAAGAGGGGGAGGAGGTGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00544.hp1 others(40): Show HG00140.hp1 HG00438.hp1 HG00544.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01167.hp1 HG01168.hp1 HG01258.hp1 HG01496.hp2 HG01515.hp1 HG01975.hp1 HG02257.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02738.hp2 HG02809.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 HG03579.hp2 HG03942.hp2 HG04184.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA18964.hp2 NA19064.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0006 a0008 a0009 a0010 a0012 a0013 a0025 a0028 a0029 a0036	a0001c0010 a0001c0014 a0001c0015 others(27): Show a0001c0010 a0001c0014 a0001c0015 a0001c0023 a0001c0032 a0001c0053 a0001c0055 a0001c0065 a0001c0069 a0002c0009 a0002c0025 a0002c0051 a0003c0011 a0003c0037 a0003c0089 a0006c0021 a0006c0029 a0006c0045 a0008c0034 a0008c0074 a0009c0098 a0010c0019 a0010c0093 a0012c0080 a0012c0082 a0013c0026 a0025c0108 a0028c0039 a0029c0109 a0036c0062	a0001c0010t0001 a0001c0014t0003 a0001c0015t0001 others(28): Show a0001c0010t0001 a0001c0014t0003 a0001c0015t0001 a0001c0023t0001 a0001c0032t0001 a0001c0053t0003 a0001c0055t0003 a0001c0065t0001 a0001c0069t0001 a0002c0009t0003 a0002c0025t0001 a0002c0025t0005 a0002c0051t0003 a0003c0011t0001 a0003c0037t0001 a0003c0089t0001 a0006c0021t0002 a0006c0029t0002 a0006c0045t0002 a0008c0034t0001 a0008c0074t0001 a0009c0098t0001 a0010c0019t0001 a0010c0093t0001 a0012c0080t0004 a0012c0082t0004 a0013c0026t0001 a0025c0108t0001 a0028c0039t0002 a0029c0109t0001 a0036c0062t0001	a0001c0010t0001g0080 a0001c0014t0003g0015 a0001c0014t0003g0016 others(40): Show a0001c0010t0001g0080 a0001c0014t0003g0015 a0001c0014t0003g0016 a0001c0015t0001g0059 a0001c0015t0001g0060 a0001c0015t0001g0062 a0001c0015t0001g0094 a0001c0015t0001g0150 a0001c0023t0001g0029 a0001c0023t0001g0031 a0001c0032t0001g0070 a0001c0053t0003g0019 a0001c0055t0003g0010 a0001c0065t0001g0082 a0001c0069t0001g0151 a0002c0009t0003g0021 a0002c0025t0001g0146 a0002c0025t0001g0147 a0002c0025t0005g0026 a0002c0051t0003g0008 a0003c0011t0001g0222 a0003c0037t0001g0188 a0003c0089t0001g0229 a0006c0021t0002g0263 a0006c0021t0002g0264 a0006c0029t0002g0247 a0006c0045t0002g0260 a0008c0034t0001g0124 a0008c0074t0001g0126 a0009c0098t0001g0163 a0010c0019t0001g0211 a0010c0019t0001g0212 a0010c0019t0001g0214 a0010c0093t0001g0213 a0012c0080t0004g0245 a0012c0082t0004g0241 a0013c0026t0001g0085 a0013c0026t0001g0087 a0013c0026t0001g0088 a0025c0108t0001g0155 a0028c0039t0002g0246 a0029c0109t0001g0239 a0036c0062t0001g0081	43	190	0.2263	194	c.424 others(211): Show c.4243+579_4243+580insTCCACCTCCTCCCCCTCTTCCCCCTCCC CTCCCTCCTCCCGTCCCCTCCCTCTACCCCCTCCCCTCCCTCCTCCCCTC CCCTCCCTCTTCACCCTCTTTCCCCCTCCTTCCCCTCCCCCTTCTTCCCC TCTTCCCCCTCCCCCTCCTCCCCCTTCCCCCTCCCCCCTCCCCCTCTTCC CCCACCTCCTCCCCCT	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TARBP1_chr1_234386313_234484179	234397802	G G	GAGGGGGA others(187): Show GAGGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGGGAGGGGGAAGGGGGAG GAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGGGGAAGGAGGGGGAAAG AGGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGGTAGAGGGAG GGGATGGGAGGAGGGAGGGGAGGGGGAAGAGGGGGAGGAGGTGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00558.hp2 others(49): Show HG00140.hp2 HG00280.hp1 HG00558.hp2 HG00609.hp1 HG00673.hp2 HG01069.hp2 HG01074.hp2 HG01123.hp2 HG01192.hp1 HG01261.hp1 HG01433.hp2 HG01496.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02451.hp2 HG02818.hp1 HG03041.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03927.hp1 HG04204.hp1 HG04204.hp2 NA18944.hp2 NA18945.hp2 NA18950.hp2 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18971.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18988.hp2 NA18990.hp1 NA18994.hp2 NA18999.hp1 NA19057.hp2 NA19058.hp1 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA20300.hp1 NA20805.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0015 a0030 a0033	a0001c0007 a0001c0014 a0001c0067 others(20): Show a0001c0007 a0001c0014 a0001c0067 a0002c0003 a0002c0060 a0002c0061 a0003c0011 a0003c0036 a0004c0004 a0005c0038 a0005c0096 a0005c0104 a0006c0030 a0006c0044 a0007c0008 a0008c0071 a0008c0073 a0009c0100 a0011c0028 a0012c0079 a0015c0027 a0030c0040 a0033c0047	a0001c0007t0001 a0001c0014t0001 a0001c0014t0003 others(21): Show a0001c0007t0001 a0001c0014t0001 a0001c0014t0003 a0001c0067t0001 a0002c0003t0001 a0002c0060t0003 a0002c0061t0001 a0003c0011t0001 a0003c0036t0001 a0004c0004t0001 a0005c0038t0001 a0005c0096t0001 a0005c0104t0001 a0006c0030t0002 a0006c0044t0002 a0007c0008t0001 a0008c0071t0001 a0008c0073t0001 a0009c0100t0001 a0011c0028t0002 a0012c0079t0004 a0015c0027t0001 a0030c0040t0002 a0033c0047t0002	a0001c0007t0001g0002 a0001c0007t0001g0115 a0001c0007t0001g0125 others(48): Show a0001c0007t0001g0002 a0001c0007t0001g0115 a0001c0007t0001g0125 a0001c0007t0001g0130 a0001c0014t0001g0044 a0001c0014t0003g0006 a0001c0014t0003g0017 a0001c0067t0001g0116 a0002c0003t0001g0061 a0002c0003t0001g0068 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0119 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0123 a0002c0003t0001g0154 a0002c0060t0003g0023 a0002c0061t0001g0054 a0003c0011t0001g0182 a0003c0011t0001g0183 a0003c0011t0001g0190 a0003c0011t0001g0215 a0003c0011t0001g0232 a0003c0036t0001g0184 a0003c0036t0001g0208 a0004c0004t0001g0171 a0004c0004t0001g0175 a0004c0004t0001g0180 a0004c0004t0001g0181 a0004c0004t0001g0193 a0005c0038t0001g0189 a0005c0096t0001g0233 a0005c0104t0001g0231 a0006c0030t0002g0266 a0006c0030t0002g0267 a0006c0044t0002g0258 a0007c0008t0001g0185 a0007c0008t0001g0200 a0007c0008t0001g0209 a0007c0008t0001g0216 a0008c0071t0001g0128 a0008c0073t0001g0072 a0009c0100t0001g0170 a0011c0028t0002g0248 a0012c0079t0004g0244 a0015c0027t0001g0236 a0015c0027t0001g0237 a0015c0027t0001g0238 a0030c0040t0002g0269 a0033c0047t0002g0271	52	199	0.2613	194	c.424 others(211): Show c.4243+579_4243+580insTCCACCTCCTCCCCCTCTTCCCCCTCCC CTCCCTCCTCCCATCCCCTCCCTCTACCCCCTCCCCTCCCTCCTCCCCTC CCCTCCCTCTTCACCCTCTTTCCCCCTCCTTCCCCTCCCCCTTCTTCCCC TCTTCCCCCTCCCCCTCCTCCCCCTTCCCCCTCCCCCCTCCCCCTCTTCC CCCACCTCCTCCCCCT	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TARBP1_chr1_234386313_234484179	234397802	G G	GAGGGGGA others(187): Show GAGGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGGGAGGGGGAAGGGGGAG GAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGGGGGAAGGAGGGGGAAA GAGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGGTAGAGGGAG GGGATGGGAGGAGGGAGGGGAGGGGGAAGAGGGGGAGGAGGTGGA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0009 a0009	a0009c0107 a0009c0107	a0009c0107t0001 a0009c0107t0001	a0009c0107t0001g0234 a0009c0107t0001g0234	1	148	0.0068	194	c.424 others(211): Show c.4243+579_4243+580insTCCACCTCCTCCCCCTCTTCCCCCTCCC CTCCCTCCTCCCATCCCCTCCCTCTACCCCCTCCCCTCCCTCCTCCCCTC CCCTCCCTCTTCACCTCTTTCCCCCTCCTTCCCCCTCCCCCTTCTTCCCC TCTTCCCCCTCCCCCTCCTCCCCCTTCCCCCTCCCCCCTCCCCCTCTTCC CCCACCTCCTCCCCCT	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TERT_chr5_1248167_1300068	1272982	G G	GACCGCCA others(187): Show GACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCAC ATCAGACCCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGAC CGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTC ACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	326	0.0031	194	c.228 others(211): Show c.2287-703_2287-702insTGATGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGT GGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGC GGTTGTGGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GACTGTGGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TEX19_chr17_82354247_82368775	82359570	T T	TTTCCCTC others(187): Show TTTCCCTCAGGTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCA GTTTCCCTCAAGTTTCCCTCAGCTTCCCTCAGGTTCCCCCAGTTTCCCTC AGGTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGTTTCCCCCAGTTTCCCT CAAATTTCCCTCAGTTTCCCTCAGGTTCCCTCAGTTTCCCCCAGC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	378	0.0026	194	c.-27 others(211): Show c.-272+318_-272+511dupTCCCTCAGGTTCCCCCAGTTTCCCTCAA GTTTCCCTCAGCTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCA GTTTCCCTCAAGTTTCCCTCAGTTTCCCCCAGTTTCCCTCAAATTTCCCT CAGTTTCCCTCAGGTTCCCTCAGTTTCCCCCAGCTTCCCTCAGGTTCCCT CAGTTTCCCTCAAGTT	TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
TFDP1_chr13_113579753_113646473	113625741	C C	CCTCAGGC others(187): Show CCTCAGGCGTCTCTCACGTGTCCTCAGGTGTCTCACGCGTCCTCAGGTGT CTCACGCGTCCTCAGGTGTCTCTCACGCGTCCTCAGGTGTCTCACGCGTC CTCAGGTGTCTCTCACGCGTCCTCAGGTGTCTCTCACGCGTCCTCAGGTG TCTCTCACGTGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	262	0.0038	194	c.186 others(211): Show c.186+2482_186+2483insTGTCTCACGCGTCCTCAGGTGTCTCACG CGTCCTCAGGTGTCTCTCACGCGTCCTCAGGTGTCTCACGCGTCCTCAGG TGTCTCTCACGCGTCCTCAGGTGTCTCTCACGCGTCCTCAGGTGTCTCTC ACGTGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCAGGCGTCT CTCACGTGTCCTCAGG	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
THBS3_chr1_155190588_155212897	155191339	T T	TGGGGGGG others(187): Show TGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGCTCGTCCGGGGCCGACG AGGTGACACCGTGGGCTGCGGGGGCGCGGTGGAGCCCGGGGGCCGGCCTG CTCTCCCGGGGCCGAGGTGACACCGTGGGCTGGCGGGGCGCGGTGGAGCC CGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	291	0.0034	194	c.45 others(205): Show c.4501_*4502insGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCA GGCCGGCCCCGGGCTCCACCGCGCCCCGCCAGCCCACGGTGTCACCTCGG CCCCGGGAGAGCAGGCCGGCCCCCGGGCTCCACCGCGCCCCCGCAGCCCA CGGTGTCACCTCGTCGGCCCCGGACGAGCCAGGCCGGCCCCGGGCTCCAC CGCCCCCCCC	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4248		chr1	TogoVar
TMEM120B_chr12_121707752_121787068	121747673	G G	GCACTGGG others(187): Show GCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0049 a0001c0001t0006g0049	1	229	0.0044	194	c.189 others(209): Show c.189-652_189-651insACTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM185A_chrX_149591556_149636792	149605471	T T	TTGTCACT others(187): Show TTGTCACTTTCTATGGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCA CTTTCTATGGCCTCCCATGTCACTTTCTATAGCCTCCCATGTCACTTTCT ATAGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTATAGCCTCCC ATGTCACTTTCTATGGCCTCCCTTGTCACTTTCTATGGCCTCCCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0159 a0001c0001t0008g0159	1	224	0.0045	194	c.424 others(211): Show c.424-1402_424-1401insTGGGAGGCCATAGAAAGTGACAAGGGAG GCCATAGAAAGTGACATGGGAGGCTATAGTGACATGGGAGGCCATAGAAA GTGACATGGGAGGCTATAGAAAGTGACATGGGAGGCTATAGAAAGTGACA TGGGAGGCCATAGAAAGTGACATGGGAGGCCATAGAAAGTGACATGGGAG GCCATAGAAAGTGACA	TMEM185A	ENSG00000269556.9	transcript	ENST00000600449.8	protein_coding	3/6			chrX	TogoVar
TMEM190_chr19_55371826_55383246	55375268	C C	CAGCCCCT others(187): Show CAGCCCCTCCTCCCTCAGACCCAGGAGTCTGGGACCCCCCAGCCCCTCCT CCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAG GAGTCCCGGACCCGGACCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTC CAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG01243.hp2 others(14): Show HG00735.hp2 HG01109.hp2 HG01243.hp2 HG02257.hp2 HG02486.hp1 HG02630.hp1 HG02717.hp2 HG02886.hp2 HG02897.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03471.hp2 NA18522.hp2 NA19043.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0002c0003t0001g0004 a0001c0001t0001g0004 a0001c0001t0001g0010 a0002c0003t0001g0004	17	300	0.0567	194	c.-15 others(205): Show c.-1586_-1585insAGCCCCTCCTCCCTCAGACCCAGGAGTCTGGGAC CCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTC CTCCCTCAGACCCAGGAGTCCCGGACCCGGACCCCCCAGCCCCTCCTCCC TCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAG TCCAGGCTCT	TMEM190	ENSG00000160472.5	transcript	ENST00000291934.4	protein_coding		1557		chr19	TogoVar
TMEM207_chr3_190423655_190454901	190439021	C C	CAAAAAAT others(187): Show CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGTGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG00738.hp1 others(5): Show HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01433.hp2 HG02080.hp1 HG02698.hp1 NA19072.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0057 a0002c0002t0002g0010 a0002c0002t0001g0057 a0002c0002t0002g0010	8	455	0.0176	194	c.304 others(211): Show c.304+1222_304+1223insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAG TGGCACAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTT	TMEM207	ENSG00000198398.3	transcript	ENST00000354905.3	protein_coding	4/4			chr3	TogoVar
TMEM238_chr19_55374244_55389292	55375268	C C	CAGCCCCT others(187): Show CAGCCCCTCCTCCCTCAGACCCAGGAGTCTGGGACCCCCCAGCCCCTCCT CCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAG GAGTCCCGGACCCGGACCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTC CAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG01243.hp1 others(13): Show HG00735.hp2 HG01109.hp1 HG01243.hp1 HG02257.hp2 HG02486.hp2 HG02630.hp1 HG02717.hp2 HG02886.hp2 HG02897.hp1 HG02965.hp2 HG03041.hp2 HG03471.hp1 NA18522.hp1 NA19043.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0028 a0002c0002t0001g0003 a0002c0002t0001g0007 others(6): Show a0001c0001t0001g0028 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0047 a0002c0002t0001g0053	16	289	0.0554	194	c.41 others(205): Show c.4106_*4107insAGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGTCCGG GTCCGGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGGGGTCCCAGACTCCTGGGTCTGAGGG AGGAGGGGCT	TMEM238	ENSG00000233493.4	transcript	ENST00000444469.4	protein_coding		3975		chr19	TogoVar
TMEM242_chr6_157284025_157328519	157311242	C C	CAGTGTGC others(187): Show CAGTGTGCTCTCACGTAGCCTCGTCATAGTGTCTCAGTGTGGGCTCATCT AGCCTCATCATAGGGTCCCAGTGTGCGCTCACCTGGCCTCATCATAGTGC GCCAGTGTGCGCTCATCAAGCCTCATCATAGTGCTCCAGTGTGCGCTCAC CAGGCCTCATCACTGTCCCAATGGGCGCTCACCTGGCCTCATCAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02155.hp1 HG03834.hp2 others(3): Show HG00621.hp1 HG02155.hp1 HG03834.hp2 HG04228.hp1 NA18747.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039	6	311	0.0193	194	c.327 others(211): Show c.327+7539_327+7540insATGATGAGGCCAGGTGAGCGCCCATTGG GACAGTGATGAGGCCTGGTGAGCGCACACTGGAGCACTATGATGAGGCTT GATGAGCGCACACTGGCGCACTATGATGAGGCCAGGTGAGCGCACACTGG GACCCTATGATGAGGCTAGATGAGCCCACACTGAGACACTATGACGAGGC TACGTGAGAGCACACT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMTC2_chr12_82681906_83139866	82876097	A A	ATGGTGGT others(187): Show ATGGTGGTGGTGGTGGTGGTGGTGGTATTAGTAATGGTGGTGGTGGTGGT GGTGGTGGTATTAGTAATGGTGGTGGTGGTGGTGGTGATTAGTATTCATA ATGGTGGTGGTGGTGGTATTAGTAATGGTGGTGGTGGTGGTGGTGATTAG TATTCATAATGGTGGTGGTGGTGGTGGTGGTGGTATTAGTAATGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0002 a0002c0002t0006g0002	1	84	0.0119	194	c.654 others(213): Show c.654+18576_654+18577insTTAGTAATGGTGGTGGTGGTGGTGGT GATTAGTATTCATAATGGTGGTGGTGGTGGTATTAGTAATGGTGGTGGTG GTGGTGGTGATTAGTATTCATAATGGTGGTGGTGGTGGTGGTGGTGGTAT TAGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTATTAGTAATGGTGGTG GTGGTGGTGGTGGTGGTA	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TPCN2_chr11_69043932_69095597	69069512	T T	TGGGAGCA others(187): Show TGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGA CCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTC CTAGGAAGTTACCGCAGTGGGAGCAGGACTGTCTGAGTCCTAGGAAGTGA CCGCAGTGGGAGCAGGACCGTCTCAGTCCTAGCAAGTGACACAGG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0002 a0009c0012t0002	a0009c0012t0002g0163 a0009c0012t0002g0163	1	221	0.0045	194	c.830 others(209): Show c.830-881_830-880insGTGGGAGCAGGACCGTCTGAGTCCTAGGAA GTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTTACCGCAGT GGGAGCAGGACTGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGAC CGTCTCAGTCCTAGCAAGTGACACAGGGGGAGCAGGACCGTCTGAGTCCT AGGAAGTGACCGCA	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPCN2_chr11_69043932_69095597	69069551	T T	TGGGAGCA others(187): Show TGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGAAGCAGGA CCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTC CTAGGAAGTTACCGCAGTGGGAGCAGGACTGTCTGAGTCCTAGGAAGTGA CCGCAGTGGGAGCAGGACCGTCTCAGTCCTAGCAAGTGACACAGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01070.hp2 others(12): Show HG00099.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01515.hp2 HG01517.hp1 HG02080.hp2 HG02523.hp1 HG02735.hp1 HG03490.hp2 HG03654.hp1 NA19007.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0007 a0005c0004t0007	a0005c0004t0007g0029 a0005c0004t0007g0042 a0005c0004t0007g0111 others(10): Show a0005c0004t0007g0029 a0005c0004t0007g0042 a0005c0004t0007g0111 a0005c0004t0007g0142 a0005c0004t0007g0143 a0005c0004t0007g0144 a0005c0004t0007g0146 a0005c0004t0007g0147 a0005c0004t0007g0153 a0005c0004t0007g0159 a0005c0004t0007g0160 a0005c0004t0007g0258 a0005c0004t0007g0259	15	401	0.0374	194	c.830 others(209): Show c.830-842_830-841insGTGGAAGCAGGACCGTCTGAGTCCTAGGAA GTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTTACCGCAGT GGGAGCAGGACTGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGAC CGTCTCAGTCCTAGCAAGTGACACAGGGGGAGCAGGACCGTCTGAGTCCT AGGAAGTGACCGCA	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TRIM28_chr19_58539064_58555715	58542264	T T	TCCCCTCC others(187): Show TCCCCTCCCCACACAGACCCTCTTTCCCTCAGACAGGATTTTCCCCCCAC ACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACATACACCCTGCTT CCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGA CAGGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02027.hp1 NA20752.hp1 HG00735.hp2 HG02027.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	399	0.0075	194	c.-24 others(205): Show c.-2494_-2493insCCCCTCCCCACACAGACCCTCTTTCCCTCAGACA GGATTTTCCCCCCACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCC ACATACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCT GCTTCCCTCCTCAGACAGGATTCTCCCCACACAGACCCTGCTTCCCTCCT CAGACAGGGC	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		1799		chr19	TogoVar
TRIM67_chr1_231157058_231226565	231202260	A A	ACATAGTG others(187): Show ACATAGTGGAGGAGGAGGAGGTGGAAGAGGAGGAGGTGGTGGCTGAGATA ATGGAGGAGGAGGAGGAGGTAATGGTGGAGGAGGAGATGGAGGAGGAGGA AGAGGTAGCGGAGGAGGAGGTAGTGGAGGAGGAGGTGGAAGAGGAGGAGG TGGTGGCTGAGATAGTGGAGGAGGAGGAGGTAGTAGGAGAGGAGG	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA18942.hp1 NA19057.hp2 HG03490.hp1 NA18942.hp1 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0010 a0001c0002 a0001c0005 a0001c0010	a0001c0002t0005 a0001c0005t0021 a0001c0010t0021 a0001c0002t0005 a0001c0005t0021 a0001c0010t0021	a0001c0002t0005g0033 a0001c0005t0021g0096 a0001c0010t0021g0097 a0001c0002t0005g0033 a0001c0005t0021g0096 a0001c0010t0021g0097	3	351	0.0085	194	c.153 others(211): Show c.1534+743_1534+744insCATAGTGGAGGAGGAGGAGGTGGAAGAG GAGGAGGTGGTGGCTGAGATAATGGAGGAGGAGGAGGAGGTAATGGTGGA GGAGGAGATGGAGGAGGAGGAAGAGGTAGCGGAGGAGGAGGTAGTGGAGG AGGAGGTGGAAGAGGAGGAGGTGGTGGCTGAGATAGTGGAGGAGGAGGAG GTAGTAGGAGAGGAGG	TRIM67	ENSG00000119283.16	transcript	ENST00000366653.6	protein_coding	5/9			chr1	TogoVar
TRIML1_chr4_188134441_188152743	188151359	A A	AGGGGAGT others(187): Show AGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAA GGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGG AGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	220	0.0045	194	c.39 others(205): Show c.3987_*3988insGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAG AGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGA GTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGA GGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGG GGGTGAGAAG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		3617		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188152667	G G	GTGGGGGT others(187): Show GTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGT GGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGG GGGTGAGAAGGGGAGTGAGAGTGGGGATGAGAAGGGGAGTGAGAGATGGG GGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	219	0.0046	194	c.52 others(205): Show c.5295_*5296insTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAG AAGGGAAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGATGAGAAGG GGAGTGAGAGATGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGG GAGTGAGAGT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4925		chr4	TogoVar
TSHZ2_chr20_52967358_53500330	53204263	G G	GATACTAT others(187): Show GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATAACATTATGATATGATACTATATCATCA TATAACATTATGATATGATACTATATCATCATATAACATTATGAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19043.hp1 HG03195.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0065 a0001c0001t0019 a0001c0001t0065	a0001c0001t0019g0149 a0001c0001t0065g0065 a0001c0001t0019g0149 a0001c0001t0065g0065	2	170	0.0118	194	c.41- others(211): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATAACATTATGATATGATACTATATC ATCATATAACATTATGATATGATACTATATCATCATATAACATTATGATA TACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(187): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACACATATATGTGTGTGTATACGCATACACACACATATA TGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	22	0.0455	194	c.-38 others(205): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGC ATACACACACATATATGTGTGTGTATACGCATACACACACATATATGTGT GTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355930	C C	CACACATA others(187): Show CACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACG CATACACACACATATGTGTGTGTATACGCATACACACACATATATGTGTG TGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	263	0.0038	194	c.-37 others(205): Show c.-3786_-3785insACACATATGTGTGTGTATACGCATACACACACAT ATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACAC ACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATAC GCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGCAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3669		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355930	C C	CACACATA others(187): Show CACACATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG CATACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	263	0.0038	194	c.-37 others(205): Show c.-3786_-3785insACACATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATAC GCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGCAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3669		chr11	TogoVar
UROC1_chr3_126476166_126522773	126515661	T T	TAACCCCC others(187): Show TAACCCCCAGCACCCACCACTTACCCTCCCCCAACCCCCAGCACCCACCA CCTACCCTCCCCCTCATCTGCCCAGCACCCACCACCTACCCTCTCCCCAA CCCCCAGCACCCACCACTTACCCTCCCCCAACCCCCAGCACCCACCACCT ACCCTCCCCCTCATCTGCCCAGCACCCACCACCTACCCTCTCCCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0283 a0001c0002t0002g0283	1	211	0.0047	194	c.126 others(211): Show c.126+1739_126+1932dupGGGGAGAGGGTAGGTGGTGGGTGCTGGG CAGATGAGGGGGAGGGTAGGTGGTGGGTGCTGGGGGTTGGGGGAGGGTAA GTGGTGGGTGCTGGGGGTTGGGGAGAGGGTAGGTGGTGGGTGCTGGGCAG ATGAGGGGGAGGGTAGGTGGTGGGTGCTGGGGGTTGGGGGAGGGTAAGTG GTGGGTGCTGGGGGTT	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19			chr3	TogoVar
USP43_chr17_9640517_9734687	9718678	T T	TAAAAATA others(187): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGC GAGACTCCGTCTCAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0269 a0001c0004t0001g0269	1	293	0.0034	194	c.233 others(213): Show c.2335+6558_2335+6559insAATTAGCCGGGCGTAGTGGCGGGCGC CTGTAGTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGTGACAGAGCGAGACTCCGTCTCAAAGAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAATACAAAA	USP43	ENSG00000154914.17	transcript	ENST00000285199.12	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
VCX2_chrX_8164944_8176267	8169401	T T	TCCTCCCT others(187): Show TCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCC TCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCTCCTCTTCCTCCCTCCCTCCCTCCCCACACCACCTCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0005 a0004c0004t0003g0005	1	90	0.0111	194	c.63 others(203): Show c.630_*631insGAGGAAGAGGTGGTGTGGGGAGGGAGGGAGGGAGGA AGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		542		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466536	G G	GGTGGGGA others(187): Show GGTGGGGAGGGAGGGAGGGAGGGGGTAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG GGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0003 a0004c0005t0003g0003	1	267	0.0037	194	c.15 others(203): Show c.153_*154insGTGGGGAGGGAGGGAGGGAGGGGGTAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAG AGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGGTGT	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		27		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467034	G G	GGGGAGGG others(187): Show GGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0002 a0011c0013t0002	a0011c0013t0002g0007 a0011c0013t0002g0007	1	211	0.0047	194	c.65 others(203): Show c.651_*652insGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		525		chrX	TogoVar
VPS53_chr17_503668_719839	598887	G G	GCCCGGCC others(187): Show GCCCGGCCAGGCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0135 a0001c0002t0135	a0001c0002t0135g0226 a0001c0002t0135g0226	1	76	0.0132	194	c.121 others(213): Show c.1218+2907_1218+2908insTGGGGGGCTGACCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGCCTGGCCGGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
VPS8_chr3_184807166_185057604	184895600	C C	CCCCCCCC others(187): Show CCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCC TCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0233 a0002c0002t0001g0233	1	260	0.0038	194	c.200 others(211): Show c.2004+681_2004+682insCTCCTCCTCCCCCCCCTCCTCCTCCCCC CCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
WDFY2_chr13_51579462_51772709	51640834	G G	GAAACTCC others(187): Show GAAACTCCATCTCAAAAAAAGAAAAGAAAGAAAGAAATGAGTAATAATTT CTTCATATCATTTAACATTTTCAAATTTTCCTAATTTGATCATCTTTTTA TTATTGATGTATTCAAACAAGTAGACAAAGCTCATACACTTTATTTAAGA CAATAAGATTTTGATGTGGCTTTCCCCACCATTTTCCTATATAAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0022 a0003c0005t0022	a0003c0005t0022g0150 a0003c0005t0022g0150	1	276	0.0036	194	c.138 others(213): Show c.138-19761_138-19760insAACTCCATCTCAAAAAAAGAAAAGAA AGAAAGAAATGAGTAATAATTTCTTCATATCATTTAACATTTTCAAATTT TCCTAATTTGATCATCTTTTTATTATTGATGTATTCAAACAAGTAGACAA AGCTCATACACTTTATTTAAGACAATAAGATTTTGATGTGGCTTTCCCCA CCATTTTCCTATATAACA	WDFY2	ENSG00000139668.9	transcript	ENST00000298125.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
WDPCP_chr2_63114559_63593477	63204776	C C	CGGTATTT others(187): Show CGGTATTTTCCCCCATTCTGTGGCTTGTCTCTTCACTTTGTGGATTGTTT CCTTTGCTGGGTAGAAGCTTTTAAACTTGATATGATCCCATTTGTCCATT TTTGCTTTAGTTACCTGTGCTTGTGGGGTATTACTTAAGAAGTTTCTACC CAGACCAATGCCCTGGAGCATTTCCCCAATATTTTCTTGTTTGCG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0188	1	213	0.0047	194	c.191 others(215): Show c.1916-29945_1916-29944insCGCAAACAAGAAAATATTGGGGAA ATGCTCCAGGGCATTGGTCTGGGTAGAAACTTCTTAAGTAATACCCCACA AGCACAGGTAACTAAAGCAAAAATGGACAAATGGGATCATATCAAGTTTA AAAGCTTCTACCCAGCAAAGGAAACAATCCACAAAGTGAAGAGACAAGCC ACAGAATGGGGGAAAATACC	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	14/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575479	G G	GTATATAC others(187): Show GTATATACACTGTATATACAGTGTATGCACTGTATATACAGTATATACAG TGTATGCACTGTATATACAGTATATACAGTGTATGCACTGTATATACAGT GTATGCACTGTATATACAGTATATACAGTGTATGCACTGTATATACAGTA TATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0143 a0001c0001t0019g0143	1	42	0.0238	194	c.75+ others(211): Show c.75+12717_75+12718insGTGCATACACTGTATATACTGTATATAC AGTGCATACACTGTATATACTGTATATACAGTGCATACACTGTATATACT GTATATACAGTGCATACACTGTATATACAGTGCATACACTGTATATACTG TATATACAGTGCATACACTGTATATACTGTATATACAGTGCATACACTGT ATATACAGTGTATATA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575479	G G	GTGTATAC others(187): Show GTGTATACACTGTATATACAGTATATATACTGTATATACAGTGTATGCAC TGTATATACAGTATATACAGTATATACAGTGTATGCACTGTATATACAGT ATATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGTA TATACAGTATATACAGTGTATGCACTGTATATACAGTGTATGCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0084 a0001c0001t0004g0084	1	42	0.0238	194	c.75+ others(211): Show c.75+12717_75+12718insGTGCATACACTGTATATACAGTGCATAC ACTGTATATACTGTATATACAGTGCATACACTGTATATACTGTATATACA GTGCATACACTGTATATACTGTATATACAGTGCATACACTGTATATACTG TATATACTGTATATACAGTGCATACACTGTATATACAGTATATATACTGT ATATACAGTGTATACA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575479	G G	GTGTATAC others(187): Show GTGTATACACTGTATATACAGTATATATACTGTATATACAGTGTATGCAC TGTATATACAGTATATACAGTGTATGCACTGTATATACAGTATATACAGT GTATGCACTGTATATACAGTATATACAGTGTATGCACTGTATATACAGTA TATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01934.hp1 NA18941.hp1 HG00735.hp1 HG01934.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213	3	44	0.0682	194	c.75+ others(211): Show c.75+12717_75+12718insGTGCATACACTGTATATACTGTATATAC AGTGCATACACTGTATATACTGTATATACAGTGCATACACTGTATATACT GTATATACAGTGCATACACTGTATATACTGTATATACAGTGCATACACTG TATATACTGTATATACAGTGCATACACTGTATATACAGTATATATACTGT ATATACAGTGTATACA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDR64_chr1_241647281_241807777	241674914	T T	TCACCTTT others(187): Show TCACCTTTCTCCCTCCCTCTCTTCCTTCCTTTCTTCTTCCTTCCCTCCTC CTTCCTTCTTTCCTTCCTTTTCTCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTCCCTCCCTCCTTCCTTCCTCCTCCTCCTTCCTTCTTTCCTTCCT TCCTCCCTCCTTCTTCCTCCCGTCCCTCCTTCCTTCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	277	0.0036	194	c.483 others(209): Show c.483+167_483+168insCACCTTTCTCCCTCCCTCTCTTCCTTCCTT TCTTCTTCCTTCCCTCCTCCTTCCTTCTTTCCTTCCTTTTCTCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCTTCCTTCCTCCTCCT CCTTCCTTCTTTCCTTCCTTCCTCCCTCCTTCTTCCTCCCGTCCCTCCTT CCTTCCTCCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WDSUB1_chr2_159230798_159291703	159247894	T T	TATATATA others(187): Show TATATATATATAAATATATATATATATATAAATATATATATATATATAAA TATATATATATATATAAATATATATATATATATAAATATATATATATATA AATATATATATATATAAATATATATATATATAAATATATATATATATAAA TATATATATATAAATATATATATATATAAATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	174	0.0057	194	c.127 others(211): Show c.1273+477_1273+478insTTATATATATATATATTTATATATATAT ATATTTATATATATATATTTATATATATATATATTTATATATATATATAT TTATATATATATATATTTATATATATATATATTTATATATATATATATAT TTATATATATATATATATTTATATATATATATATATTTATATATATATAT ATATTTATATATATAT	WDSUB1	ENSG00000196151.11	transcript	ENST00000359774.9	protein_coding	10/10			chr2	TogoVar
XPR1_chr1_180627022_180895279	180656449	T T	TTATACAT others(187): Show TTATACATTATATATAATATTTATTTATATATAATATATATATTATATAT AATATTTATATATTATATATAATATATATATATTAATATATAATATTTAT ATATTATATATAATATATATATATTATATATAATATTTATATATTATATA TAATATATATATATTATATATAATATTTATATATTATATATAATA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	327	0.0031	194	c.69+ others(211): Show c.69+24183_69+24184insCATTATATATAATATTTATTTATATATA ATATATATATTATATATAATATTTATATATTATATATAATATATATATAT TAATATATAATATTTATATATTATATATAATATATATATATTATATATAA TATTTATATATTATATATAATATATATATATTATATATAATATTTATATA TTATATATAATATATA	XPR1	ENSG00000143324.14	transcript	ENST00000367590.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB46_chr20_63738670_63836264	63747349	C C	CGGGGCAG others(187): Show CGGGGCAGGGGGTGAGCAGGGCCAGGTGGAGGTTGGAAGAGGGGGCAGGG GGTGAGCAGGGCCCGGTGGAGGTTGGGAGGGGGGCCAGGGGGTGAGCAGG GCCTGGTGGAGGTCGGGGGGGCAGGGGGTGAGCAGGGCCTGGTGGGTTGG GGGGCGGGGCAGGGGGTGAGCAGGGCCTGGTGGAGGTTGGAAGGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03139.hp2 HG02723.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0008 a0001c0021t0008 a0001c0001t0008 a0001c0021t0008	a0001c0001t0008g0075 a0001c0021t0008g0114 a0001c0001t0008g0075 a0001c0021t0008g0114	2	182	0.0110	194	c.139 others(209): Show c.1399-49_1399-48insCCCTTCCAACCTCCACCAGGCCCTGCTCAC CCCCTGCCCCGCCCCCCAACCCACCAGGCCCTGCTCACCCCCTGCCCCCC CGACCTCCACCAGGCCCTGCTCACCCCCTGGCCCCCCTCCCAACCTCCAC CGGGCCCTGCTCACCCCCTGCCCCCTCTTCCAACCTCCACCTGGCCCTGC TCACCCCCTGCCCC	ZBTB46	ENSG00000130584.12	transcript	ENST00000245663.9	protein_coding	4/4			chr20	TogoVar
ZBTB46_chr20_63738670_63836264	63747510	C C	CCAGGGGG others(187): Show CCAGGGGGTGAGCAGGGCCTGGTGGAGGTTGGAAGGGGGGGCAGGGGGTG AGCAGGGCCTGGTGGAGGTGGGGGGGGCAGGGGGTGAGCAGGGCCCGGTG GAGGTTGGGAGGGGGGCCAGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGG GGGGCGGGGCAGGGGGTGAGCAGGGCCTGGTTGGGGTGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	143	0.0070	194	c.139 others(211): Show c.1399-210_1399-209insCCCCCCCCACCCCAACCAGGCCCTGCTC ACCCCCTGCCCCGCCCCCCCCCACCTCCACCAGGCCCTGCTCACCCCCTG GCCCCCCTCCCAACCTCCACCGGGCCCTGCTCACCCCCTGCCCCCCCCAC CTCCACCAGGCCCTGCTCACCCCCTGCCCCCCCTTCCAACCTCCACCAGG CCCTGCTCACCCCCTG	ZBTB46	ENSG00000130584.12	transcript	ENST00000245663.9	protein_coding	4/4			chr20	TogoVar
ZFP42_chr4_187990771_188010046	187992030	C C	CCGTGGGG others(187): Show CCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGA GACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACC GTGGGGAGAGGGAGAGTGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	98	0.0102	194	c.-41 others(205): Show c.-4149_-4148insCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGG GGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGAG AGGGAGAGGGAGACCGTGGGGAGAGGGAGAGTGGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGG AGAGGGAGAG	ZFP42	ENSG00000179059.10	transcript	ENST00000326866.5	protein_coding		3740		chr4	TogoVar
ZFPM1_chr16_88448280_88542031	88461004	G G	GGACCGAG others(187): Show GGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGAC CTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAA GGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATG GGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0032 a0004c0004t0006g0032	1	218	0.0046	194	c.40+ others(209): Show c.40+7373_40+7374insACCTGGTGAGGACCGAGGGGCGGGAGGCCC TGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGG CCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGG GCGGGAGACCTGGTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGA CCGAGGGGCGGGAG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF112_chr19_44321555_44361680	44337362	T T	TTATATAT others(187): Show TTATATATATTTTATATATAATATATATTATATATATTTTATATATATAA TATATATTATATATATTTTATATATATAATATATATTATATATATTTTAT ATATATTATATATATTATATATATTTTATATATATAATATATATTATATA TATTTTATATATAATATATATTATATATAAAATATATATAATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02818.hp2 others(1): Show HG01884.hp2 HG02280.hp1 HG02818.hp2 HG03540.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0012 a0003c0003t0004g0060 a0003c0003t0004g0012 a0003c0003t0004g0060	4	235	0.0170	194	c.125 others(209): Show c.125-645_125-644insTATATTATATATATTTTATATATAATATAT ATTATATATAAAATATATATAATATATATTATATATATAAAATATATATA ATATATATAATATATATAAAATATATATAATATATATTATATATATAAAA TATATATAATATATATTATATATATAAAATATATATAATATATATTATAT ATAAAATATATATA	ZNF112	ENSG00000062370.17	transcript	ENST00000354340.9	protein_coding	2/3			chr19	TogoVar
ZNF182_chrX_47969851_48008989	47971480	T T	TGTATACG others(187): Show TGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTATA TACACGTGTATACGTATACATATGTATATACACGTGTATACGTATACATA TGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACGTA TACATATGTATATACACGTGTATACGTATACATATGTATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	92	0.0109	194	c.46 others(205): Show c.4686_*4687insGTGTATATACATATGTATACGTATACACGTGTAT ATACATATGTATACGTATACACGTGTATATACATATGTATACGTATACAC GTGTATATACATATGTATACGTATACACGTGTATATACATATGTATACGT ATACACGTGTATATACATATGTATACGTATACACGTGTATATACATATGT ATACGTATAC	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3370		chrX	TogoVar

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