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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
TUBGCP2_chr10_133273635_133313872	133291465	CTCCGTGT others(50): Show CTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGC ATGCACCG	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	284	0.0035	-57	c.121 others(75): Show c.1214+977_1214+1033delCGGTGCATGCTGCCCTCTCCCGTACAG GTAGGGCTCCCCGGGACACGGGGACACGGA		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17					chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291559	CTCCGTGT others(50): Show CTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGC ATGCACCG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0247 a0002c0003t0002g0247	1	284	0.0035	-57	c.121 others(74): Show c.1214+883_1214+939delCGGTGCATGCTGCCCTCTCCCGTACAGG TAGGGCTCCCCGGGACACGGGGACACGGA		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17					chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291744	TCCCTCCG others(50): Show TCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGC AGCACGCG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	284	0.0035	-57	c.121 others(74): Show c.1214+698_1214+754delCGCGTGCTGCCCTCTCCCGTACAGGTAG GGCTCCCCGGGACACGGGGACACGGAGGG		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17					chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291842	CTCCGTGT others(50): Show CTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGC ATGCACCG	C C	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0187 a0001c0006t0003g0187	1	284	0.0035	-57	c.121 others(74): Show c.1214+600_1214+656delCGGTGCATGCTGCCCTCTCCCGTACAGG TAGGGCTCCCCGGGACACAGGGACACGGA		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17					chr10	TogoVar
TXNL4A_chr18_79965813_79993563	79985042	CCATGAAA others(50): Show CCATGAAATTGTCTCCTGTGACGGTGTTCCTACAAAATGGAAAGATAGCT CAAAGGTA	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0055 a0001c0002t0004g0055	1	390	0.0026	-57	c.153 others(74): Show c.153+3141_153+3197delTACCTTTGAGCTATCTTTCCATTTTGTA GGAACACCGTCACAGGAGACAATTTCATG		TXNL4A	ENSG00000141759.15	transcript	ENST00000269601.10	protein_coding	1/2					chr18	TogoVar
TYMS_chr18_652653_678578	667399	GTGATGGT others(50): Show GTGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGT GATGGTGA	G G	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0193 a0001c0001t0007g0193	1	482	0.0021	-57	c.455 others(74): Show c.455-1666_455-1610delTGATGGTGATGGTGATGGTGATGGAGAT GGTGATGGTGATGGTGATGGTGATGATGG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6				INFO_REALIGN_3_PRIME	chr18	TogoVar
UBAP2_chr9_33916693_34053887	33981188	TATATATA others(50): Show TATATATATATATTCTGGATATATATATATATATTCTGGATATATATATA TATTCTGG	T T	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0017 a0002c0001t0003g0017	1	356	0.0028	-57	c.520 others(74): Show c.520+5515_520+5571delCCAGAATATATATATATATCCAGAATAT ATATATATATATCCAGAATATATATATAT		UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28					chr9	TogoVar
UBE2QL1_chr5_6443859_6501723	6447355	ACCACACA others(50): Show ACCACACACACACTCACACACTCACACACACCACACACCGCACACACACA CCACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	340	0.0029	-57	c.-15 others(68): Show c.-1538_-1482delCCACACACACACTCACACACTCACACACACCACA CACCGCACACACACACCACACAC		UBE2QL1	ENSG00000215218.4	transcript	ENST00000399816.4	protein_coding				1503		chr5	TogoVar
UBE2U_chr1_64198623_64272368	64239080	GGAAGAGG others(50): Show GGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG00741.hp1 others(7): Show HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01109.hp2 HG01358.hp1 HG01975.hp1 HG02148.hp1 HG03041.hp1 HG03669.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0178 a0002c0003t0001g0016	10	330	0.0303	-57	c.596 others(74): Show c.596-2566_596-2510delGGAAGAGGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGA		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9				INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239121	AAGAAGAA others(50): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGA AGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG01070.hp1 others(60): Show HG00423.hp1 HG00544.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01358.hp2 HG01361.hp1 HG01943.hp1 HG02080.hp2 HG02109.hp1 HG02280.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18942.hp2 NA18949.hp1 NA18956.hp2 NA18959.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18970.hp2 NA18974.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18992.hp1 NA18994.hp1 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19055.hp2 NA19066.hp2 NA19070.hp1 NA19077.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0003c0004t0001 a0001c0001t0001 a0001c0001t0002 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(54): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0304 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0002g0206 a0001c0001t0002g0217 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0262 a0001c0001t0002g0272 a0003c0004t0001g0131 a0003c0004t0001g0132 a0003c0004t0001g0133 a0003c0004t0001g0143 a0003c0004t0001g0144 a0003c0004t0001g0146 a0003c0004t0001g0147 a0003c0004t0001g0151	63	330	0.1909	-57	c.596 others(74): Show c.596-2529_596-2473delGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAAGAAGAAGAAGAAGAAGAAGA		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9				INFO_REALIGN_3_PRIME	chr1	TogoVar
UBL3_chr13_29759371_29855617	29835088	AAATATAT others(50): Show AAATATATATATATATATAAATATATATATATATATAAATATATATATAT ATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0279	1	392	0.0026	-57	c.27+ others(74): Show c.27+14367_27+14423delATATATATATATATATATATTTATATAT ATATATATATTTATATATATATATATATT		UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4					chr13	TogoVar
UBL4B_chr1_110107443_110118947	110116867	CTCTCCCC others(50): Show CTCTCCCCTCCTTCCACTCCGACTTGCTCCCCTCCATCAGCCTTTGTTCA GGATTAAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	396	0.0025	-57	c.38 others(68): Show c.3809_*3865delTCTCCCCTCCTTCCACTCCGACTTGCTCCCCTCC ATCAGCCTTTGTTCAGGATTAAG		UBL4B	ENSG00000186150.5	transcript	ENST00000334179.5	protein_coding				2921		chr1	TogoVar
UGCG_chr9_111891814_111940369	111911905	GATATATA others(50): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TATTCAAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00544.hp1 others(121): Show HG00140.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03710.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18956.hp1 NA18965.hp2 NA18968.hp1 NA18972.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA19004.hp1 NA19007.hp1 NA19012.hp1 NA19054.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp1 NA19078.hp1 NA19079.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0005	a0001c0001t0028 a0001c0001t0047 a0001c0002t0002 others(19): Show a0001c0001t0028 a0001c0001t0047 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0012 a0001c0002t0016 a0001c0002t0017 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0032 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0002t0038 a0001c0002t0039 a0001c0002t0042 a0001c0002t0049 a0001c0007t0002 a0002c0005t0014	a0001c0001t0028g0001 a0001c0001t0028g0069 a0001c0001t0047g0081 others(111): Show a0001c0001t0028g0001 a0001c0001t0028g0069 a0001c0001t0047g0081 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0027 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0041 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0070 a0001c0002t0002g0072 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0006g0015 a0001c0002t0006g0208 a0001c0002t0006g0250 a0001c0002t0006g0251 a0001c0002t0006g0346 a0001c0002t0006g0347 a0001c0002t0006g0348 a0001c0002t0006g0349 a0001c0002t0006g0350 a0001c0002t0006g0351 a0001c0002t0006g0352 a0001c0002t0006g0372 a0001c0002t0006g0383 a0001c0002t0009g0018 a0001c0002t0009g0078 a0001c0002t0009g0079 a0001c0002t0009g0080 a0001c0002t0009g0082 a0001c0002t0009g0083 a0001c0002t0009g0171 a0001c0002t0009g0181 a0001c0002t0009g0187 a0001c0002t0012g0084 a0001c0002t0012g0085 a0001c0002t0012g0086 a0001c0002t0012g0087 a0001c0002t0012g0088 a0001c0002t0012g0089 a0001c0002t0012g0090 a0001c0002t0016g0006 a0001c0002t0016g0037 a0001c0002t0016g0071 a0001c0002t0017g0001 a0001c0002t0017g0002 a0001c0002t0017g0003 a0001c0002t0022g0275 a0001c0002t0022g0276 a0001c0002t0022g0277 a0001c0002t0022g0278 a0001c0002t0023g0091 a0001c0002t0023g0092 a0001c0002t0023g0093 a0001c0002t0024g0002 a0001c0002t0024g0028 a0001c0002t0024g0036 a0001c0002t0032g0040 a0001c0002t0034g0042 a0001c0002t0035g0031 a0001c0002t0036g0034 a0001c0002t0037g0043 a0001c0002t0038g0065 a0001c0002t0039g0074 a0001c0002t0042g0047 a0001c0002t0049g0026 a0001c0007t0002g0063 a0002c0005t0014g0035	124	424	0.2925	-57	c.99- others(72): Show c.99-2698_99-2642delTATATATATATATATATATATATATATATA TATATATATATATATATATATTCAACA		UGCG	ENSG00000148154.10	transcript	ENST00000374279.4	protein_coding	1/8				INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC5A_chr5_176805559_176885898	176859133	GCCCTTGC others(50): Show GCCCTTGCTAGAGGGCATAGCTGCTACAATGTCCTTGCTAGAGGGCATGG CTGCTAGA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp1 HG03098.hp2 HG03453.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0005 a0004c0006t0002g0005	2	268	0.0075	-57	c.71- others(72): Show c.71-3490_71-3434delCCCTTGCTAGAGGGCATAGCTGCTACAATG TCCTTGCTAGAGGGCATGGCTGCTAGA		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14					chr5	TogoVar
UNC5A_chr5_176805559_176885898	176859253	GCCCTTGC others(50): Show GCCCTTGCTAGAGGGCATAGCTGCTACAATGTCCTTGCTAGAGGGCATGG CTGCTAGA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	268	0.0037	-57	c.71- others(72): Show c.71-3370_71-3314delCCCTTGCTAGAGGGCATAGCTGCTACAATG TCCTTGCTAGAGGGCATGGCTGCTAGA		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14					chr5	TogoVar
UNC5A_chr5_176805559_176885898	176859313	GCCCTTGC others(50): Show GCCCTTGCTAGAGGGCATAGCTGCTAGAATGCCCTTGCTAGAGGGCATGG CTGCTAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00735.hp1 others(20): Show HG00099.hp1 HG00639.hp2 HG00735.hp1 HG01074.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG01978.hp2 HG02145.hp1 HG02572.hp1 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02818.hp2 HG02896.hp1 HG02922.hp2 HG02976.hp2 HG03225.hp1 HG03516.hp2 NA18906.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0174 a0001c0001t0002g0040 a0001c0001t0002g0090 others(20): Show a0001c0001t0001g0174 a0001c0001t0002g0040 a0001c0001t0002g0090 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0118 a0001c0001t0002g0171 a0001c0001t0002g0179 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0218 a0001c0001t0003g0074 a0001c0001t0003g0252 a0001c0001t0003g0259 a0001c0001t0003g0261	23	268	0.0858	-57	c.71- others(72): Show c.71-3310_71-3254delCCCTTGCTAGAGGGCATAGCTGCTAGAATG CCCTTGCTAGAGGGCATGGCTGCTAGA		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14					chr5	TogoVar
UNC5A_chr5_176805559_176885898	176859526	GTCCTTGC others(50): Show GTCCTTGCTAGAGGGCATAGCTGCTAGAATGTCCTTGCTAGAGGGCATGG CTGCTAGA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19002.hp1 NA19043.hp1 others(1): Show HG02630.hp1 NA19002.hp1 NA19043.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0045 a0001c0001t0001g0138 a0001c0001t0001g0139 others(1): Show a0001c0001t0001g0045 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0014g0061	4	268	0.0149	-57	c.71- others(72): Show c.71-3097_71-3041delTCCTTGCTAGAGGGCATAGCTGCTAGAATG TCCTTGCTAGAGGGCATGGCTGCTAGA		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14					chr5	TogoVar
UNC5A_chr5_176805559_176885898	176859586	GTCCTTGC others(50): Show GTCCTTGCTAGAGGGCATGGCTGCTACAATGTCCTTGCTAGAGGGCATGG CTGCTAGA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	268	0.0037	-57	c.71- others(72): Show c.71-3037_71-2981delTCCTTGCTAGAGGGCATGGCTGCTACAATG TCCTTGCTAGAGGGCATGGCTGCTAGA		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14					chr5	TogoVar
VIPR2_chr7_159023175_159149867	159063803	GTCCGGGG others(50): Show GTCCGGGGGTCCTGGTGGGGTCCGGGGGTCCTGGTGGGGTCTGGGGGGCC TGGTGGGT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01255.hp1 HG01361.hp1 others(1): Show HG01106.hp2 HG01255.hp1 HG01361.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0295 a0001c0001t0001g0296 others(1): Show a0001c0001t0001g0099 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297	4	336	0.0119	-57	c.358 others(74): Show c.358-5282_358-5226delACCCACCAGGCCCCCCAGACCCCACCAG GACCCCCGGACCCCACCAGGACCCCCGGA		VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12					chr7	TogoVar
VIPR2_chr7_159023175_159149867	159106663	GGGGCAGA others(50): Show GGGGCAGAGAGGCCAGGGAGGGGCAGAGAGGCCAGGGAGGGGCAGAGAGG CCAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA19240.hp2 HG02647.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0174 a0001c0005t0013g0175 a0001c0005t0013g0174 a0001c0005t0013g0175	2	336	0.0060	-57	c.260 others(74): Show c.260-2866_260-2810delTTCCCTGGCCTCTCTGCCCCTCCCTGGC CTCTCTGCCCCTCCCTGGCCTCTCTGCCC		VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	3/12					chr7	TogoVar
VWA5A_chr11_124110450_124152721	124136693	CTTCCTTC others(50): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCAT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0018 a0018	a0018c0026 a0018c0026	a0018c0026t0007 a0018c0026t0007	a0018c0026t0007g0269 a0018c0026t0007g0269	1	424	0.0024	-57	c.162 others(72): Show c.1625+21_1625+77delTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCATT		VWA5A	ENSG00000110002.16	transcript	ENST00000456829.7	protein_coding	14/18				INFO_REALIGN_3_PRIME	chr11	TogoVar
XIAP_chrX_123855053_123918972	123894234	AATTGTTA others(50): Show AATTGTTATCCCCACTTTTCAGATGAAGAAAGAGTCAGAGAGGTTAAGTG ACTTGCGC	A A	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0011 a0001c0001t0059g0011	1	286	0.0035	-57	c.109 others(76): Show c.1099+1463_1099+1519delTTGTTATCCCCACTTTTCAGATGAAG AAAGAGTCAGAGAGGTTAAGTGACTTGCGCA		XIAP	ENSG00000101966.14	transcript	ENST00000371199.8	protein_coding	5/6				INFO_REALIGN_3_PRIME	chrX	TogoVar
XYLT1_chr16_17096769_17475960	17143736	CCATCATC others(50): Show CCATCATCACAATTTCCATTATCACCACTGTCATCACCACCATCGTCATC ATCACCAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp1 HG01109.hp2 others(77): Show HG00140.hp1 HG01069.hp1 HG01109.hp2 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA19030.hp2 NA19043.hp1 NA19081.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0009 a0010 a0011 a0015	a0001c0001 a0001c0002 a0001c0004 others(25): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0013 a0001c0022 a0001c0025 a0001c0030 a0001c0032 a0002c0005 a0002c0011 a0002c0036 a0002c0037 a0003c0010 a0004c0018 a0004c0019 a0004c0041 a0004c0042 a0005c0016 a0005c0017 a0005c0043 a0005c0044 a0009c0027 a0010c0038 a0011c0020 a0015c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(63): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0027 a0001c0001t0030 a0001c0001t0037 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0069 a0001c0001t0071 a0001c0001t0098 a0001c0002t0049 a0001c0002t0078 a0001c0004t0004 a0001c0004t0020 a0001c0004t0024 a0001c0004t0032 a0001c0004t0046 a0001c0004t0089 a0001c0006t0012 a0001c0006t0023 a0001c0006t0026 a0001c0006t0079 a0001c0007t0004 a0001c0007t0020 a0001c0007t0088 a0001c0007t0099 a0001c0008t0038 a0001c0008t0051 a0001c0008t0085 a0001c0008t0092 a0001c0013t0010 a0001c0022t0001 a0001c0025t0070 a0001c0030t0081 a0001c0032t0080 a0002c0005t0015 a0002c0005t0084 a0002c0005t0087 a0002c0005t0095 a0002c0011t0019 a0002c0011t0083 a0002c0036t0093 a0002c0037t0019 a0003c0010t0066 a0004c0018t0007 a0004c0018t0035 a0004c0019t0013 a0004c0041t0061 a0004c0042t0094 a0005c0016t0016 a0005c0016t0059 a0005c0017t0043 a0005c0017t0068 a0005c0043t0045 a0005c0044t0004 a0009c0027t0031 a0010c0038t0074 a0011c0020t0004 a0015c0026t0003	a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0065 others(77): Show a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0035 a0001c0001t0005g0033 a0001c0001t0011g0014 a0001c0001t0017g0095 a0001c0001t0018g0103 a0001c0001t0018g0105 a0001c0001t0021g0132 a0001c0001t0021g0136 a0001c0001t0027g0016 a0001c0001t0030g0018 a0001c0001t0037g0032 a0001c0001t0056g0085 a0001c0001t0057g0064 a0001c0001t0058g0098 a0001c0001t0069g0113 a0001c0001t0071g0115 a0001c0001t0098g0149 a0001c0002t0049g0078 a0001c0002t0078g0125 a0001c0004t0004g0101 a0001c0004t0020g0122 a0001c0004t0024g0005 a0001c0004t0032g0020 a0001c0004t0046g0056 a0001c0004t0089g0141 a0001c0006t0012g0042 a0001c0006t0012g0043 a0001c0006t0023g0004 a0001c0006t0026g0013 a0001c0006t0079g0127 a0001c0007t0004g0060 a0001c0007t0020g0123 a0001c0007t0088g0140 a0001c0007t0099g0151 a0001c0008t0038g0023 a0001c0008t0051g0092 a0001c0008t0085g0134 a0001c0008t0092g0144 a0001c0013t0010g0012 a0001c0013t0010g0015 a0001c0022t0001g0066 a0001c0025t0070g0112 a0001c0030t0081g0128 a0001c0032t0080g0126 a0002c0005t0015g0067 a0002c0005t0015g0074 a0002c0005t0084g0135 a0002c0005t0087g0133 a0002c0005t0095g0147 a0002c0011t0019g0116 a0002c0011t0083g0138 a0002c0036t0093g0145 a0002c0037t0019g0118 a0003c0010t0066g0107 a0004c0018t0007g0011 a0004c0018t0035g0036 a0004c0019t0013g0047 a0004c0041t0061g0068 a0004c0042t0094g0146 a0005c0016t0016g0055 a0005c0016t0059g0069 a0005c0017t0043g0054 a0005c0017t0068g0111 a0005c0043t0045g0057 a0005c0044t0004g0071 a0009c0027t0031g0008 a0010c0038t0074g0119 a0011c0020t0004g0044 a0015c0026t0003g0026	80	156	0.5128	-57	c.137 others(76): Show c.1371-2424_1371-2368delATGGTGATGATGACGATGGTGGTGAT GACAGTGGTGATAATGGAAATTGTGATGATG		XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding	6/11					chr16	TogoVar
YJU2_chr19_4242080_4274088	4247583	GTGTGTGT others(50): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA20300.hp1 HG00642.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0169 a0001c0002t0001g0025 a0001c0002t0001g0169	2	384	0.0052	-57	c.24+ others(70): Show c.24+414_24+470delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGT		YJU2	ENSG00000105248.16	transcript	ENST00000262962.12	protein_coding	1/7					chr19	TogoVar
YY2_chrX_21850987_21863740	21856326	TCTCTGCA others(50): Show TCTCTGCAGCTCGCGCCTTTCTCTGCAGCTCGCGCCTTTCTCTGCAGCTC GCCCCTTC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0000 a0001c0001t0017g0000	1	324	0.0031	-57	c.-14 others(65): Show c.-145_-89delGCCTTTCTCTGCAGCTCGCGCCTTTCTCTGCAGCTCG CCCCTTCCTCTGCAGCTCGC		YY2	ENSG00000230797.3	transcript	ENST00000429584.3	protein_coding	1/1			89	INFO_REALIGN_3_PRIME	chrX	TogoVar
ZC3H12D_chr6_149441795_149490014	149488960	GTGAGCTA others(50): Show GTGAGCTAAAAGAGAGTATATATAGCTATTTGCAGTGGTGACATGGACAC GCATGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0009 a0002c0002t0005g0009	1	412	0.0024	-57	c.-42 others(68): Show c.-4275_-4219delACCCATGCGTGTCCATGTCACCACTGCAAATAGC TATATATACTCTCTTTTAGCTCA		ZC3H12D	ENSG00000178199.14	transcript	ENST00000409806.8	protein_coding				3947		chr6	TogoVar
ZMAT4_chr8_40525590_40902826	40601506	AAAGAGAA others(50): Show AAAGAGAAAGAGAAAGAAAGAGGGAGAAAGGGGAAGGGGGAGTGAGAAAG AAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	228	0.0044	-57	c.578 others(76): Show c.578-20302_578-20246delCTTTCTTTCTTTCTCACTCCCCCTTC CCCTTTCTCCCTCTTTCTTTCTCTTTCTCTT		ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	5/6					chr8	TogoVar
ZNF133_chr20_18283527_18321996	18312419	CTGATAAA others(50): Show CTGATAAAATAAGGGAAAAGACATTGCATTTGTCTTATTTGCAGGCTTTA TCTTACTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	372	0.0027	-57	c.218 others(74): Show c.218-2646_218-2590delTAAAATAAGGGAAAAGACATTGCATTTG TCTTATTTGCAGGCTTTATCTTACTTTGA		ZNF133	ENSG00000125846.17	transcript	ENST00000425686.3	protein_coding	6/6				INFO_REALIGN_3_PRIME	chr20	TogoVar
ZNF516_chr18_76352682_76500242	76357346	CCCCAGCG others(50): Show CCCCAGCGCAGAGTGGCGTCCCCAGCGCAGAGTGGCGCACCCAGCGCAGA GTGGCGTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0016 a0016	a0016c0049 a0016c0049	a0016c0049t0114 a0016c0049t0114	a0016c0049t0114g0072 a0016c0049t0114g0072	1	346	0.0029	-57	c.50 others(68): Show c.5095_*5151delTACGCCACTCTGCGCTGGGTGCGCCACTCTGCGC TGGGGACGCCACTCTGCGCTGGG		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding				335		chr18	TogoVar
ZNF516_chr18_76352682_76500242	76357373	CAGAGTGG others(50): Show CAGAGTGGCGCACCCAGCGCAGAGTGGCGTACCCAGCGGAGAGTGGCGTA CCCAGCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0035 a0002c0013t0035	a0002c0013t0035g0184 a0002c0013t0035g0184	1	346	0.0029	-57	c.50 others(68): Show c.5068_*5124delCCGCTGGGTACGCCACTCTCCGCTGGGTACGCCA CTCTGCGCTGGGTGCGCCACTCT		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding				308		chr18	TogoVar
ZNF536_chr19_30367384_30563059	30383645	CCTTTCTT others(50): Show CCTTTCTTTCTCTCTTTCTCTTTCTTTCTTCCTTTCTTCCTTCCTTTCTT TTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0001 a0003c0017t0001	a0003c0017t0001g0027 a0003c0017t0001g0027	1	212	0.0047	-57	c.-3+ others(74): Show c.-3+11100_-3+11156delCTCTTTCTCTTTCTTTCTTCCTTTCTTC CTTCCTTTCTTTTCTTTCTCTTTCTTTCT		ZNF536	ENSG00000198597.10	transcript	ENST00000355537.4	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF554_chr19_2814868_2841735	2817668	ATGACTAA others(50): Show ATGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGT GACAAGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0049 a0009c0018t0049	a0009c0018t0049g0210 a0009c0018t0049g0210	1	410	0.0024	-57	c.-24 others(68): Show c.-2403_-2347delTGACTAAGAACAGAGCAGGTGACCAAGGATAACT AAGGTCAGAGCAGGTGACAAGGG		ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding				2199		chr19	TogoVar
ZNF554_chr19_2814868_2841735	2817871	GACTAAGG others(50): Show GACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGAC CAAGGATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02015.hp2 HG02129.hp2 others(28): Show HG01109.hp1 HG02015.hp2 HG02129.hp2 HG02572.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG03041.hp1 HG03098.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 NA18906.hp2 NA18941.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18988.hp2 NA18999.hp1 NA19004.hp1 NA19058.hp1 NA19064.hp2 NA19065.hp1 NA19076.hp2 NA19079.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0004 a0001c0006 a0001c0007 others(3): Show a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0002c0005 a0009c0018	a0001c0004t0003 a0001c0004t0017 a0001c0006t0006 others(10): Show a0001c0004t0003 a0001c0004t0017 a0001c0006t0006 a0001c0006t0008 a0001c0006t0016 a0001c0006t0026 a0001c0006t0050 a0001c0007t0010 a0001c0007t0022 a0001c0012t0024 a0002c0005t0004 a0002c0005t0045 a0009c0018t0049	a0001c0004t0003g0046 a0001c0004t0003g0150 a0001c0004t0003g0152 others(23): Show a0001c0004t0003g0046 a0001c0004t0003g0150 a0001c0004t0003g0152 a0001c0004t0003g0199 a0001c0004t0003g0200 a0001c0004t0017g0163 a0001c0006t0006g0010 a0001c0006t0006g0034 a0001c0006t0006g0202 a0001c0006t0006g0203 a0001c0006t0008g0205 a0001c0006t0008g0215 a0001c0006t0016g0211 a0001c0006t0026g0034 a0001c0006t0050g0197 a0001c0007t0010g0130 a0001c0007t0010g0213 a0001c0007t0022g0212 a0001c0007t0022g0214 a0001c0012t0024g0161 a0002c0005t0004g0003 a0002c0005t0004g0009 a0002c0005t0004g0149 a0002c0005t0004g0157 a0002c0005t0045g0209 a0009c0018t0049g0210	31	410	0.0756	-57	c.-22 others(68): Show c.-2200_-2144delACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAG AACAGAGCAGGTGACCAAGGATA		ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding				1996		chr19	TogoVar
ZNF554_chr19_2814868_2841735	2818186	GACTAAGG others(50): Show GACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGAC CAAGGATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0009 a0008c0020t0009	a0008c0020t0009g0165 a0008c0020t0009g0165	1	410	0.0024	-57	c.-18 others(68): Show c.-1885_-1829delACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAG AACAGAGCAGGTGACCAAGGATA		ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding				1681		chr19	TogoVar
ZNF554_chr19_2814868_2841735	2818412	GTGACTAA others(50): Show GTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGT GACAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0009 a0008c0020t0009	a0008c0020t0009g0165 a0008c0020t0009g0165	1	410	0.0024	-57	c.-16 others(68): Show c.-1659_-1603delTGACTAAGAACAGAGCAGGTGACCAAGGATAACT AAGGTCAGAGCAGGTGACAAGGA		ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding				1455		chr19	TogoVar
ZNF554_chr19_2814868_2841735	2818422	ACAGAGCA others(50): Show ACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGATG ACTAAGGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0208 a0001c0006t0008g0208	1	410	0.0024	-57	c.-16 others(68): Show c.-1649_-1593delCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAG CAGGTGACAAGGATGACTAAGGT		ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding				1445		chr19	TogoVar
ZNF587_chr19_57844859_57870117	57857589	TAGATGTA others(50): Show TAGATGTATATATATGTGTGTATGTGTATATATATATATGTGTGTGTGTA TATGTATA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03540.hp2 HG02630.hp2 HG03540.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0059 a0003c0004t0060 a0003c0004t0059 a0003c0004t0060	a0003c0004t0059g0051 a0003c0004t0060g0051 a0003c0004t0059g0051 a0003c0004t0060g0051	2	454	0.0044	-57	c.164 others(72): Show c.164-986_164-930delAGATGTATATATATGTGTGTATGTGTATAT ATATATATGTGTGTGTGTATATGTATA		ZNF587	ENSG00000198466.12	transcript	ENST00000339656.8	protein_coding	2/2					chr19	TogoVar
ZNF676_chr19_22174089_22201951	22201523	GTAAAGTG others(50): Show GTAAAGTGAAATGAAAGGAGAGATCCCCTCTTAGAGGCTGCTCTAGAACA TTCTAAAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0012 a0002c0003t0001g0012	1	439	0.0023	-57	c.-49 others(68): Show c.-4947_-4891delATTTAGAATGTTCTAGAGCAGCCTCTAAGAGGGG ATCTCTCCTTTCATTTCACTTTA		ZNF676	ENSG00000196109.9	transcript	ENST00000397121.3	protein_coding				4573		chr19	TogoVar
ZNF76_chr6_35254735_35300985	35293746	GGCAGGTC others(50): Show GGCAGGTCAGCCTGTCCCCGGAAGACCTGCAGGCCCTGGGGAGTGCCATC AGTATGGT	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00438.hp1 HG00438.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0001 a0006c0016t0001	a0006c0016t0001g0189 a0006c0016t0001g0189	1	310	0.0032	-57	c.133 others(68): Show c.1330-4_1382delGCAGGTCAGCCTGTCCCCGGAAGACCTGCAGGCC CTGGGGAGTGCCATCAGTATGGT	p.Val others(5): Show p.Val444fs	ZNF76	ENSG00000065029.15	transcript	ENST00000373953.8	protein_coding	12/14	1330/1713	444/570			chr6	TogoVar
ZNF772_chr19_57464586_57482566	57482410	GCCTCTGC others(50): Show GCCTCTGCCTCTGCCTCTGCCTCTGCCTCTCCCTCTCCCTCTCCCCTCTC CCCTCTCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02486.hp1 NA18522.hp1 HG01109.hp2 HG02486.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0007 a0002c0002t0005 a0002c0002t0007	a0002c0002t0005g0007 a0002c0002t0007g0010 a0002c0002t0005g0007 a0002c0002t0007g0010	3	394	0.0076	-57	c.-51 others(68): Show c.-5158_-5102delGGAGAGGGGAGAGGGGAGAGGGAGAGGGAGAGGC AGAGGCAGAGGCAGAGGCAGAGG		ZNF772	ENSG00000197128.13	transcript	ENST00000356584.8	protein_coding				4845		chr19	TogoVar
ZNRF1_chr16_74994024_75115994	75111132	ACAGCTGA others(50): Show ACAGCTGATGGGAGGAGGAGAGGGGCGGAGGCCAGGGAGGGCGTGGGGTG TGACATGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0076 a0001c0001t0011g0076	1	328	0.0031	-57	c.34 others(68): Show c.3433_*3489delCAGCTGATGGGAGGAGGAGAGGGGCGGAGGCCAG GGAGGGCGTGGGGTGTGACATGC		ZNRF1	ENSG00000186187.12	transcript	ENST00000335325.9	protein_coding				139		chr16	TogoVar
ZP4_chr1_237877404_237895922	237883627	AGGGGGAG others(50): Show AGGGGGAGGGGGAGGGCGGGGGAGGGCGGGGGAGGGCCGGGGGAGGGCGG GGGAGGGC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02818.hp1 HG02895.hp2 others(1): Show HG02486.hp2 HG02818.hp1 HG02895.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0252 a0001c0002t0001g0009 a0001c0002t0001g0061 a0001c0001t0001g0252 a0001c0002t0001g0009 a0001c0002t0001g0061	4	448	0.0089	-57	c.139 others(74): Show c.1391-838_1391-782delGCCCTCCCCCGCCCTCCCCCGGCCCTCC CCCGCCCTCCCCCGCCCTCCCCCTCCCCC		ZP4	ENSG00000116996.10	transcript	ENST00000366570.5	protein_coding	10/11					chr1	TogoVar
ABCB5_chr7_20610667_20762008	20681000	TTCTTTCT others(49): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCT CTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp1 others(15): Show HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG02083.hp1 HG02155.hp1 HG02165.hp1 NA18954.hp1 NA18961.hp1 NA18961.hp2 NA18973.hp1 NA18983.hp1 NA18993.hp1 NA18995.hp1 NA19007.hp2 NA19085.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0005 a0002c0003 others(3): Show a0001c0001 a0001c0005 a0002c0003 a0003c0002 a0004c0008 a0008c0009	a0001c0001t0001 a0001c0005t0001 a0002c0003t0003 others(4): Show a0001c0001t0001 a0001c0005t0001 a0002c0003t0003 a0003c0002t0001 a0004c0008t0002 a0008c0009t0001 a0008c0009t0002	a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0264 others(15): Show a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0272 a0001c0001t0001g0279 a0001c0001t0001g0347 a0001c0005t0001g0260 a0001c0005t0001g0267 a0002c0003t0003g0025 a0003c0002t0001g0208 a0003c0002t0001g0231 a0003c0002t0001g0338 a0004c0008t0002g0261 a0004c0008t0002g0273 a0004c0008t0002g0300 a0008c0009t0001g0206 a0008c0009t0001g0350 a0008c0009t0002g0211	18	360	0.0500	-56	c.170 others(73): Show c.1708-501_1708-446delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTCTTTCTTTCTTTCTCTCTCTCTCT		ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27				INFO_REALIGN_3_PRIME	chr7	TogoVar
ABI3BP_chr3_100744156_100998421	100830098	CATACATA others(49): Show CATACATACATACATATATATATATATATATATATATATATATATATATA TATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0008 a0008	a0008c0030 a0008c0030	a0008c0030t0017 a0008c0030t0017	a0008c0030t0017g0153 a0008c0030t0017g0153	1	238	0.0042	-56	c.245 others(73): Show c.2458+424_2459-435delATATATATATATATATATATATATATAT ATATATATATATATATGTATGTATGTAT		ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	32/67					chr3	TogoVar
ABR_chr17_998519_1184981	1026925	GCTTCCAA others(49): Show GCTTCCAAAATGCCTGGGGCAGCTCCCCCAGACTCACACCTGCAGGCTTG GGGGCTC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA20300.hp1 HG01192.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0085 a0001c0003t0012 a0001c0002t0085 a0001c0003t0012	a0001c0002t0085g0328 a0001c0003t0012g0119 a0001c0002t0085g0328 a0001c0003t0012g0119	2	337	0.0059	-56	c.179 others(77): Show c.1792-13817_1792-13762delGAGCCCCCAAGCCTGCAGGTGTGA GTCTGGGGGAGCTGCCCCAGGCATTTTGGAAG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22					chr17	TogoVar
ABR_chr17_998519_1184981	1119114	CCTCCCAG others(49): Show CCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCAGCGTTATCCCTGAGC CTGAGTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01074.hp2 others(1): Show HG00639.hp1 HG00741.hp1 HG01074.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0005 a0001c0004t0048 a0002c0005t0001 a0001c0001t0005 a0001c0004t0048 a0002c0005t0001	a0001c0001t0005g0315 a0001c0004t0048g0198 a0002c0005t0001g0186 others(1): Show a0001c0001t0005g0315 a0001c0004t0048g0198 a0002c0005t0001g0186 a0002c0005t0001g0197	4	337	0.0119	-56	c.246 others(73): Show c.246+6013_246+6068delAACTCAGGCTCAGGGATAACGCTGGGAG AACTCAGGCTCAGGGATAACGCTGGGAG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22					chr17	TogoVar
ABTB3_chr12_107313434_107664642	107469958	TTCTTTCT others(49): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02895.hp1 HG03453.hp1 HG01256.hp2 HG02895.hp1 HG03453.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0001c0001t0030 a0003c0004t0011 a0001c0001t0003 a0001c0001t0030 a0003c0004t0011	a0001c0001t0003g0032 a0001c0001t0030g0081 a0003c0004t0011g0155 a0001c0001t0003g0032 a0001c0001t0030g0081 a0003c0004t0011g0155	3	186	0.0161	-56	c.113 others(77): Show c.1136-50525_1136-50470delTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCT		ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16				INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107469962	TTCTTTCT others(49): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02738.hp2 NA18942.hp2 others(1): Show HG02135.hp2 HG02738.hp2 NA18942.hp2 NA19090.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0006 a0005c0007 a0002c0002 a0003c0006 a0005c0007	a0002c0002t0004 a0003c0006t0002 a0003c0006t0005 others(1): Show a0002c0002t0004 a0003c0006t0002 a0003c0006t0005 a0005c0007t0001	a0002c0002t0004g0061 a0003c0006t0002g0129 a0003c0006t0005g0144 others(1): Show a0002c0002t0004g0061 a0003c0006t0002g0129 a0003c0006t0005g0144 a0005c0007t0001g0122	4	186	0.0215	-56	c.113 others(77): Show c.1136-50521_1136-50466delTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCT		ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16				INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1288262	TCTCTGCT others(49): Show TCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCC CGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02630.hp1 HG03540.hp1 others(2): Show HG01109.hp2 HG02630.hp1 HG03540.hp1 HG03688.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0001 a0001c0001t0002g0118 a0001c0002t0001g0021 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0118 a0001c0002t0001g0021 a0001c0002t0001g0076 a0001c0002t0001g0097	5	295	0.0170	-56	c.52 others(67): Show c.5246_*5301delGGACACGGGACGGAGCAGACACGGGACGGAGCAG AGACTCGGGGGACGGAGCAGAG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding				4128		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288401	TCCCGTGT others(49): Show TCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	295	0.0034	-56	c.51 others(67): Show c.5107_*5162delGGACGGAGCAGAGACACGGGACGGAGCAGGGACA CGGGACGGAGCAGGGACACGGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding				3989		chr1	TogoVar

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