Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
VIPR2_chr7_159023175_159149867	159129429	T T	TTCCCTCA others(245): Show TTCCCTCAAACTGGCCTCTGGCGGGGACAGGGCTGGGGGGACAGGGCCAG GTGACCAGCTTCACACTCTGTTCCCTCAAACTGGACTCTGGTGGGGACAG GGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGCCTCTCGGGG GGACAGGGCTGGGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTTCC CTCAAACTGGACTCTGGTGGGGACAGGGCCAGGTGACCAGCTTCACACTC TGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02818.hp1 HG02622.hp2 HG02630.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0015 a0001c0001 a0001c0002 a0001c0015	a0001c0001t0006 a0001c0002t0043 a0001c0015t0011 a0001c0001t0006 a0001c0002t0043 a0001c0015t0011	a0001c0001t0006g0025 a0001c0002t0043g0162 a0001c0015t0011g0026 a0001c0001t0006g0025 a0001c0002t0043g0162 a0001c0015t0011g0026	3	336	0.0089	252	c.151 others(271): Show c.151+13016_151+13017insGCAGAGTGTGAAGCTGGTCACCTGGC CCTGTCCCCACCAGAGTCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCA CCTGGCCCTGTCCCCCCAGCCCTGTCCCCCCGAGAGGCCAGTTTGAGGGA ACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCACCAGAGTCCAGTTT GAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCCCAGCCCTG TCCCCGCCAGAGGCCAGTTTGAGGGA		VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12						chr7	TogoVar
VIPR2_chr7_159023175_159149867	159129429	T T	TTCCCTCA others(245): Show TTCCCTCAAACTGGCCTCTGGCGGGGACAGGGCTGGGGGGACAGGGCCAG GTGACCAGCTTCACACTCTGTTCCCTCAAACTGGACTCTGGTGGGGACAG GGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGCCTCTGGGGG GGACAGGGCTGGGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTTCC CTCAAACTGGACTCTGGTGGGGACAGGGCCAGGTGACCAGCTTCACACTC TGC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0152 a0001c0009t0007g0152	1	336	0.0030	252	c.151 others(271): Show c.151+13016_151+13017insGCAGAGTGTGAAGCTGGTCACCTGGC CCTGTCCCCACCAGAGTCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCA CCTGGCCCTGTCCCCCCAGCCCTGTCCCCCCCAGAGGCCAGTTTGAGGGA ACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCACCAGAGTCCAGTTT GAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCCCAGCCCTG TCCCCGCCAGAGGCCAGTTTGAGGGA		VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12						chr7	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(245): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	408	0.0025	252	c.53+ others(267): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGAT		VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(245): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	408	0.0025	252	c.53+ others(267): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGAT		VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(245): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	408	0.0025	252	c.53+ others(267): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGAT		VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(245): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02015.hp1 HG03927.hp2 HG00673.hp2 HG02015.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0295 a0001c0001t0001g0300 a0001c0001t0001g0258 a0001c0001t0001g0295 a0001c0001t0001g0300	3	408	0.0074	252	c.53+ others(267): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGAT		VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr20	TogoVar
WDR35_chr2_19905263_19995105	19985275	G G	GCCATCAT others(245): Show GCCATCATCCTCAAACCCTACAACAAGCAGCTCCAACCCAGGGTTATCAT TCTCAAACCCTACCACAAGCAGCTCCAACCCAGGACCATCATCCTCAAAC CCTACCACAAGCAGCTCCAACCCAGGGCCATCATCCTCAAACCCTACCAC AAGCAGCTCCAACCCAGGACCATCATCCTCAAACCCTACCACAAGCAGCT CCAACCCAGGGCCATCATCCTCAAACCCTACCACCAGCAACTCCAACCCA GGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18942.hp1 NA18983.hp2 HG02698.hp1 NA18942.hp1 NA18983.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0028 a0001c0010t0030 a0001c0010t0001 a0001c0010t0028 a0001c0010t0030	a0001c0010t0001g0364 a0001c0010t0028g0365 a0001c0010t0030g0118 a0001c0010t0001g0364 a0001c0010t0028g0365 a0001c0010t0030g0118	3	398	0.0075	252	c.143 others(269): Show c.143-2742_143-2741insTCCTGGGTTGGAGTTGCTGGTGGTAGGG TTTGAGGATGATGGCCCTGGGTTGGAGCTGCTTGTGGTAGGGTTTGAGGA TGATGGTCCTGGGTTGGAGCTGCTTGTGGTAGGGTTTGAGGATGATGGCC CTGGGTTGGAGCTGCTTGTGGTAGGGTTTGAGGATGATGGTCCTGGGTTG GAGCTGCTTGTGGTAGGGTTTGAGAATGATAACCCTGGGTTGGAGCTGCT TGTTGTAGGGTTTGAGGATGATGG		WDR35	ENSG00000118965.16	transcript	ENST00000281405.9	protein_coding	2/26						chr2	TogoVar
WDR64_chr1_241647281_241807777	241675038	T T	TCCTGCCT others(245): Show TCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTC CTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCC CTCCCTCCTTCCTCCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGC CTC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0133 a0001c0002t0002g0133	1	326	0.0031	252	c.483 others(267): Show c.483+292_483+293insCTGCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCC TCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCCTCCCTCCCTCCTGCC TCCCTCCCTCCCTCCTGCCTCC		WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27					INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(245): Show ATATATAATATATATATATAATATATATATATATAATATATATATATAAT ATATATATATATAATATATATATAATATATATATATATTATATATATATA TAATATATATATATATTATATATATATAATATATATATTATATATATATT ATATATATATAATATATATTATATATATATAATATATATATAATATATAT ATATTATATATATATAATATATATATTATATATATATAATATATATATAT ATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	330	0.0030	252	c.38 others(263): Show c.3884_*3885insAATATATATATATATTATATATATATAATATATA TATTATATATATATAATATATATATATTATATATATATTATATATATATA ATATATATTATATATATATAATATATATATAATATATATATTATATATAT ATAATATATATATATATTATATATATATATAATATATATATATATTATAT ATATATTATATATATATATATTATATATATATATTATATATATATATATT ATATATATATATTATATA		WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding					3775		chr19	TogoVar
XG_chrX_2747040_2821500	2773742	A A	AGAAGGAA others(245): Show AGAAGGAAGAAAGGAGGGTGGGGAGGAAGGAAAGAAGAAGGGGGAAAAGG AGAGAGGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGAAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GAAAGGAGGGTGGGGAGGAAGGAAAGAAGAAGGGGGAAAAGGAGAGAGGG AAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0035 a0001c0002t0044g0035	1	322	0.0031	252	c.104 others(267): Show c.104-966_104-965insAAAGGAGGGTGGGGAGGAAGGAAAGAAGAA GGGGGAAAAGGAGAGAGGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAG GAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGAA AGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAG GAGAGAAGGAAGAAAGGAGGGTGGGGAGGAAGGAAAGAAGAAGGGGGAAA AGGAGAGAGGGAAGGAAGGAAG		XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
XPO1_chr2_61472849_61543356	61473618	T T	TATAAACT others(245): Show TATAAACTTTTAAAAATTTGAGGACCACTCCATAAGTAAACATGAGTTCC AAACAGAAGAAAATGGAGTGTATGGAAAAAAGGATTCAAGAGAATCTCCA CAAACAGAAGGGTATCAATTTGCTCATAACAAATCACTAAATATCCATCC CATAAGATACAAATACACCCCCAGTTGTCCAGGTGTGGTGACACACACTT GTCCTCCCAGCTACCCAGGAGGCTGAGGCAGGAGGATTCCTTGAGCCAGG AAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00544.hp2 others(84): Show HG00280.hp2 HG00408.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG01952.hp1 HG01993.hp2 HG02027.hp1 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02976.hp1 HG03017.hp1 HG03471.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp1 NA18612.hp1 NA18906.hp2 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18961.hp1 NA18968.hp1 NA18970.hp2 NA18977.hp1 NA18980.hp1 NA18983.hp1 NA18994.hp2 NA18999.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp2 NA19068.hp2 NA19072.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19086.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0040 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0051 a0001c0001t0053 a0001c0001t0059 a0001c0001t0061 a0001c0001t0063 a0001c0001t0069 a0001c0001t0072	a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0002g0275 others(83): Show a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0002g0275 a0001c0001t0002g0284 a0001c0001t0002g0291 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0004g0137 a0001c0001t0004g0144 a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0008g0307 a0001c0001t0008g0309 a0001c0001t0008g0310 a0001c0001t0008g0311 a0001c0001t0008g0312 a0001c0001t0008g0313 a0001c0001t0008g0314 a0001c0001t0008g0315 a0001c0001t0010g0242 a0001c0001t0012g0001 a0001c0001t0012g0028 a0001c0001t0012g0035 a0001c0001t0012g0036 a0001c0001t0012g0037 a0001c0001t0012g0038 a0001c0001t0012g0039 a0001c0001t0012g0040 a0001c0001t0018g0010 a0001c0001t0018g0020 a0001c0001t0018g0021 a0001c0001t0018g0022 a0001c0001t0019g0060 a0001c0001t0019g0062 a0001c0001t0019g0064 a0001c0001t0019g0065 a0001c0001t0020g0066 a0001c0001t0020g0070 a0001c0001t0020g0071 a0001c0001t0023g0043 a0001c0001t0023g0044 a0001c0001t0023g0050 a0001c0001t0025g0095 a0001c0001t0025g0098 a0001c0001t0025g0099 a0001c0001t0027g0192 a0001c0001t0027g0193 a0001c0001t0027g0194 a0001c0001t0028g0007 a0001c0001t0028g0008 a0001c0001t0029g0041 a0001c0001t0029g0042 a0001c0001t0030g0051 a0001c0001t0030g0052 a0001c0001t0033g0085 a0001c0001t0033g0086 a0001c0001t0034g0091 a0001c0001t0034g0092 a0001c0001t0040g0003 a0001c0001t0044g0029 a0001c0001t0045g0072 a0001c0001t0046g0073 a0001c0001t0051g0101 a0001c0001t0053g0106 a0001c0001t0059g0199 a0001c0001t0061g0222 a0001c0001t0063g0224 a0001c0001t0069g0302 a0001c0001t0072g0317	87	318	0.2736	252	c.52 others(263): Show c.5201_*5202insTTTCCTGGCTCAAGGAATCCTCCTGCCTCAGCCT CCTGGGTAGCTGGGAGGACAAGTGTGTGTCACCACACCTGGACAACTGGG GGTGTATTTGTATCTTATGGGATGGATATTTAGTGATTTGTTATGAGCAA ATTGATACCCTTCTGTTTGTGGAGATTCTCTTGAATCCTTTTTTCCATAC ACTCCATTTTCTTCTGTTTGGAACTCATGTTTACTTATGGAGTGGTCCTC AAATTTTTAAAAGTTTAT		XPO1	ENSG00000082898.19	transcript	ENST00000401558.7	protein_coding					4230		chr2	TogoVar
ZFP42_chr4_187990771_188010046	187992046	G G	GGGGAGAG others(245): Show GGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGG AGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAC CGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGTGGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAG AGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGG AGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18993.hp2 NA19011.hp2 others(1): Show NA18941.hp2 NA18993.hp2 NA19011.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0003g0009 others(1): Show a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0003g0009 a0001c0001t0003g0026	4	448	0.0089	252	c.-41 others(263): Show c.-4133_-4132insGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAG ACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCG TGGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGG GAGAGGGAGAGTGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAC CGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAG ACCGTGGGGAGAGGGAGA		ZFP42	ENSG00000179059.10	transcript	ENST00000326866.5	protein_coding					3724		chr4	TogoVar
ZFPM1_chr16_88448280_88542031	88461137	A A	ACCTGGTG others(245): Show ACCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGATGACCGAGGGGTGGG GCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCA GGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGAC CCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTGG TGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGA GAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	318	0.0031	252	c.40+ others(267): Show c.40+7493_40+7494insTGACCGAGGGGTGGGGCGGGAGGCCTGGTG AGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTG GTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGG GAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGATGACCGAGGGGT GGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGACCCTGGTGAGGAC CGAGGGGCGGGAGACCTGGTGA		ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr16	TogoVar
ZFPM1_chr16_88448280_88542031	88501639	G G	GGGGGCCC others(245): Show GGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTG CGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTG CGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGTG CATGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGT GCGTGGGCCCTCCCGCAGGTACTGGTGATGATGGAGATAGCAGACATGGG TGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0010 a0001c0029t0010	a0001c0029t0010g0139 a0001c0029t0010g0139	1	318	0.0031	252	c.268 others(271): Show c.268+12486_268+12487insGGGGCCCTCCCGCAGGTGCTGGTGAT GATGGAGATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGAT GATGGAGATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGAT GATGGAGATAGCGGGTGTGGGTGCATGGGCTCTCCCGCAGGTGCTGGTGA TGATGGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTACTGGTG ATGATGGAGATAGCAGACATGGGTGC		ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9						chr16	TogoVar
ZNF182_chrX_47969851_48008989	47971402	T T	TGTATACA others(245): Show TGTATACATATGTATATACACGTGTATACGTATACATATGTATATACACG TGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTATA TACACGTGTATACGTATACATATGTATATACACGTGTATACGTATACATA TGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACGTA TACATATGTATATACACGTGTATACGTATACATATGTATATACACGTGTA TAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0035 a0001c0001t0008g0035	1	270	0.0037	252	c.47 others(263): Show c.4764_*4765insGTATACACGTGTATATACATATGTATACGTATAC ACGTGTATATACATATGTATACGTATACACGTGTATATACATATGTATAC GTATACACGTGTATATACATATGTATACGTATACACGTGTATATACATAT GTATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATAT ACATATGTATACGTATACACGTGTATATACATATGTATACGTATACACGT GTATATACATATGTATAC		ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding					3448		chrX	TogoVar
ZNF182_chrX_47969851_48008989	47971510	T T	TGTATACG others(245): Show TGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTATA TACACGTGTATACGTATACATATGTATATACACGTGTATACGTATACATA TGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACGTA TACATATGTATATACACGTGTATACGTATACATATGTATATACACGTGTA TACGTATACATATGTATATACACGTGTGTATATGTATACATATGTATATA CAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG02615.hp2 others(3): Show HG02257.hp2 HG02572.hp1 HG02615.hp2 HG02922.hp2 HG03471.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0045 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0045 a0001c0001t0001g0060 a0001c0001t0004g0063	6	270	0.0222	252	c.46 others(263): Show c.4656_*4657insGTGTATATACATATGTATACATATACACACGTGT ATATACATATGTATACGTATACACGTGTATATACATATGTATACGTATAC ACGTGTATATACATATGTATACGTATACACGTGTATATACATATGTATAC GTATACACGTGTATATACATATGTATACGTATACACGTGTATATACATAT GTATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATAT ACATATGTATACGTATAC		ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding					3340		chrX	TogoVar
ZNF628_chr19_55471617_55489487	55472086	G G	GGAGGAAG others(245): Show GGAGGAAGGTTTTACCTGTACAGATAGAACCCTGTATATTGTTGCTTCCT CCAGGGAGTCTGCCCTGGTTTCCCCCAGGCTGCGTGAGGAAGGTTTTACC TGTACAGATGGAACCCTGTATATTGTTGCTTCCTCCAGGGAGTCTGCCCT GGTTTCCCCCAGGCTGCGTGAGGAAGGTTTTACCTGTACAGATGGAACCC TGTATATTGTTGCTTCCTCCAGGGAGTCTGCCCTGGTTTCCCCCAGGCTG CGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0019 a0019	a0019c0021 a0019c0021	a0019c0021t0001 a0019c0021t0001	a0019c0021t0001g0004 a0019c0021t0001g0004	1	422	0.0024	252	c.-47 others(263): Show c.-4799_-4798insGAGGAAGGTTTTACCTGTACAGATAGAACCCTGT ATATTGTTGCTTCCTCCAGGGAGTCTGCCCTGGTTTCCCCCAGGCTGCGT GAGGAAGGTTTTACCTGTACAGATGGAACCCTGTATATTGTTGCTTCCTC CAGGGAGTCTGCCCTGGTTTCCCCCAGGCTGCGTGAGGAAGGTTTTACCT GTACAGATGGAACCCTGTATATTGTTGCTTCCTCCAGGGAGTCTGCCCTG GTTTCCCCCAGGCTGCGT		ZNF628	ENSG00000197483.11	transcript	ENST00000598519.2	protein_coding					4530		chr19	TogoVar
ZNF676_chr19_22174089_22201951	22180935	C C	CCTTTGCC others(245): Show CCTTTGCCACATTCTTCACATTTGTAGGGTTTCTCTCCAGTATGAATTAT CTTATGTTTAGTAAGGATTGAGGATCGATTAAAAGCTTTCCCACATTCTT CACATTTATAGGGTTTCTCTCCAGCATGAATTCTCTTGTGTTCAGGAAGG CTTGAGGACCAGCTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTTT CTCTCCAGTGTGAACTCTCTTATGTTCCATAAGATTTGAGGACGAGTTGA AAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19010.hp1 NA19010.hp1	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0002 a0012c0023t0002	a0012c0023t0002g0253 a0012c0023t0002g0253	1	439	0.0023	252	c.781 others(259): Show c.781_782insCTTTCAACTCGTCCTCAAATCTTATGGAACATAAGAGA GTTCACACTGGAGAGAAACCCTACAAATGTGAAGAATGTGGCAAAGCCTT CAGCTGGTCCTCAAGCCTTCCTGAACACAAGAGAATTCATGCTGGAGAGA AACCCTATAAATGTGAAGAATGTGGGAAAGCTTTTAATCGATCCTCAATC CTTACTAAACATAAGATAATTCATACTGGAGAGAAACCCTACAAATGTGA AGAATGTGGCAAAG	p.Lys others(265): Show p.Lys260_Gly261insAlaPheAsnSerSerSerAsnLeuMetGluHi sLysArgValHisThrGlyGluLysProTyrLysCysGluGluCysGlyL ysAlaPheSerTrpSerSerSerLeuProGluHisLysArgIleHisAla GlyGluLysProTyrLysCysGluGluCysGlyLysAlaPheAsnArgSe rSerIleLeuThrLysHisLysIleIleHisThrGlyGluLysProTyrL ysCysGluGluCysGlyLys	ZNF676	ENSG00000196109.9	transcript	ENST00000397121.3	protein_coding	3/3	1099/2946	781/1767	261/588			chr19	TogoVar
ZNF676_chr19_22174089_22201951	22180935	C C	CCTTTGCC others(245): Show CCTTTGCCACATTCTTCACATTTGTAGGGTTTCTCTCCAGTATGAATTAT CTTATGTTTAGTAAGGATTGAGGATCGATTAAAAGCTTTCCCACATTCTT CACATTTATAGGGTTTCTCTCCAGCATGAATTCTCTTGTGTTCAGTAAGG CTTGAGGACCAGCTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTTT CTCTCCAGTATGAACTCTCTTATGTTCCATAAGATTTGAGGACGAGTTGA AAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(109): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00558.hp2 HG00609.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01981.hp1 HG02015.hp2 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18970.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18983.hp1 NA18987.hp2 NA18992.hp1 NA18999.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19074.hp2 NA19083.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0010	a0001c0011 a0002c0002 a0002c0008 others(5): Show a0001c0011 a0002c0002 a0002c0008 a0002c0018 a0004c0006 a0005c0007 a0006c0009 a0010c0013	a0001c0011t0004 a0002c0002t0001 a0002c0002t0007 others(8): Show a0001c0011t0004 a0002c0002t0001 a0002c0002t0007 a0002c0002t0009 a0002c0008t0001 a0002c0008t0008 a0002c0018t0001 a0004c0006t0005 a0005c0007t0004 a0006c0009t0004 a0010c0013t0001	a0001c0011t0004g0157 a0001c0011t0004g0158 a0002c0002t0001g0006 others(78): Show a0001c0011t0004g0157 a0001c0011t0004g0158 a0002c0002t0001g0006 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0047 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0116 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0138 a0002c0002t0001g0142 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0155 a0002c0002t0001g0164 a0002c0002t0007g0039 a0002c0002t0007g0117 a0002c0002t0009g0143 a0002c0008t0001g0037 a0002c0008t0008g0098 a0002c0018t0001g0156 a0004c0006t0005g0036 a0004c0006t0005g0046 a0004c0006t0005g0093 a0004c0006t0005g0094 a0004c0006t0005g0095 a0004c0006t0005g0096 a0004c0006t0005g0097 a0004c0006t0005g0154 a0005c0007t0004g0048 a0005c0007t0004g0049 a0005c0007t0004g0160 a0005c0007t0004g0161 a0005c0007t0004g0162 a0006c0009t0004g0026 a0010c0013t0001g0132	112	439	0.2551	252	c.781 others(259): Show c.781_782insCTTTCAACTCGTCCTCAAATCTTATGGAACATAAGAGA GTTCATACTGGAGAGAAACCCTACAAATGTGAAGAATGTGGCAAAGCCTT CAGCTGGTCCTCAAGCCTTACTGAACACAAGAGAATTCATGCTGGAGAGA AACCCTATAAATGTGAAGAATGTGGGAAAGCTTTTAATCGATCCTCAATC CTTACTAAACATAAGATAATTCATACTGGAGAGAAACCCTACAAATGTGA AGAATGTGGCAAAG	p.Lys others(265): Show p.Lys260_Gly261insAlaPheAsnSerSerSerAsnLeuMetGluHi sLysArgValHisThrGlyGluLysProTyrLysCysGluGluCysGlyL ysAlaPheSerTrpSerSerSerLeuThrGluHisLysArgIleHisAla GlyGluLysProTyrLysCysGluGluCysGlyLysAlaPheAsnArgSe rSerIleLeuThrLysHisLysIleIleHisThrGlyGluLysProTyrL ysCysGluGluCysGlyLys	ZNF676	ENSG00000196109.9	transcript	ENST00000397121.3	protein_coding	3/3	1099/2946	781/1767	261/588			chr19	TogoVar
ZNF676_chr19_22174089_22201951	22180935	C C	CCTTTGCC others(245): Show CCTTTGCCACATTCTTCACATTTGTAGGGTTTCTCTCCAGTATGAATTAT CTTATGTTTAGTAAGGATTGAGGATCGATTAAAAGCTTTCCCACATTCTT CACATTTATAGGGTTTCTCTCCAGCATGAATTCTCTTGTGTTCAGTAAGG CTTGAGGACCAGCTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTTT CTCTCCAGTATGAACTCTCTTATGTTCCATAAGATTTGAGGATGAGTTGA AAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03225.hp2 HG03225.hp2	a0005 a0005	a0005c0025 a0005c0025	a0005c0025t0004 a0005c0025t0004	a0005c0025t0004g0159 a0005c0025t0004g0159	1	439	0.0023	252	c.781 others(259): Show c.781_782insCTTTCAACTCATCCTCAAATCTTATGGAACATAAGAGA GTTCATACTGGAGAGAAACCCTACAAATGTGAAGAATGTGGCAAAGCCTT CAGCTGGTCCTCAAGCCTTACTGAACACAAGAGAATTCATGCTGGAGAGA AACCCTATAAATGTGAAGAATGTGGGAAAGCTTTTAATCGATCCTCAATC CTTACTAAACATAAGATAATTCATACTGGAGAGAAACCCTACAAATGTGA AGAATGTGGCAAAG	p.Lys others(265): Show p.Lys260_Gly261insAlaPheAsnSerSerSerAsnLeuMetGluHi sLysArgValHisThrGlyGluLysProTyrLysCysGluGluCysGlyL ysAlaPheSerTrpSerSerSerLeuThrGluHisLysArgIleHisAla GlyGluLysProTyrLysCysGluGluCysGlyLysAlaPheAsnArgSe rSerIleLeuThrLysHisLysIleIleHisThrGlyGluLysProTyrL ysCysGluGluCysGlyLys	ZNF676	ENSG00000196109.9	transcript	ENST00000397121.3	protein_coding	3/3	1099/2946	781/1767	261/588			chr19	TogoVar
ZNF676_chr19_22174089_22201951	22180935	C C	CCTTTGCC others(245): Show CCTTTGCCACATTCTTCACATTTGTAGGGTTTCTCTCCAGTATGAATTAT CTTATGTTTAGTAAGGATTGAGGATCGATTAAAAGCTTTCCCACATTCTT CACATTTATAGGGTTTCTCTCCAGCATGAATTCTCTTGTGTTCAGTAAGG CTTGAGGACCAGCTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTTT CTCTCCAGTGTGAACTCTCTTATGTTCCATAAGATTTGAGGACGAGTTGA AAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(248): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0013 others(4): Show a0001 a0003 a0013 a0014 a0015 a0016 a0018	a0001c0001 a0001c0005 a0003c0004 others(5): Show a0001c0001 a0001c0005 a0003c0004 a0013c0021 a0014c0022 a0015c0020 a0016c0019 a0018c0027	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0005t0002 a0003c0004t0003 a0013c0021t0003 a0014c0022t0002 a0015c0020t0003 a0016c0019t0003 a0018c0027t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0008 others(136): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0016 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0174 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0263 a0001c0001t0006g0171 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0006g0186 a0001c0005t0002g0019 a0001c0005t0002g0030 a0001c0005t0002g0067 a0001c0005t0002g0068 a0001c0005t0002g0220 a0001c0005t0002g0236 a0001c0005t0002g0250 a0001c0005t0002g0251 a0003c0004t0003g0010 a0003c0004t0003g0017 a0003c0004t0003g0027 a0003c0004t0003g0051 a0003c0004t0003g0175 a0003c0004t0003g0176 a0003c0004t0003g0179 a0003c0004t0003g0180 a0003c0004t0003g0181 a0003c0004t0003g0182 a0003c0004t0003g0183 a0003c0004t0003g0184 a0003c0004t0003g0190 a0003c0004t0003g0198 a0013c0021t0003g0165 a0014c0022t0002g0260 a0015c0020t0003g0185 a0016c0019t0003g0264 a0018c0027t0002g0244	251	439	0.5718	252	c.781 others(259): Show c.781_782insCTTTCAACTCGTCCTCAAATCTTATGGAACATAAGAGA GTTCACACTGGAGAGAAACCCTACAAATGTGAAGAATGTGGCAAAGCCTT CAGCTGGTCCTCAAGCCTTACTGAACACAAGAGAATTCATGCTGGAGAGA AACCCTATAAATGTGAAGAATGTGGGAAAGCTTTTAATCGATCCTCAATC CTTACTAAACATAAGATAATTCATACTGGAGAGAAACCCTACAAATGTGA AGAATGTGGCAAAG	p.Lys others(265): Show p.Lys260_Gly261insAlaPheAsnSerSerSerAsnLeuMetGluHi sLysArgValHisThrGlyGluLysProTyrLysCysGluGluCysGlyL ysAlaPheSerTrpSerSerSerLeuThrGluHisLysArgIleHisAla GlyGluLysProTyrLysCysGluGluCysGlyLysAlaPheAsnArgSe rSerIleLeuThrLysHisLysIleIleHisThrGlyGluLysProTyrL ysCysGluGluCysGlyLys	ZNF676	ENSG00000196109.9	transcript	ENST00000397121.3	protein_coding	3/3	1099/2946	781/1767	261/588			chr19	TogoVar
ZNF676_chr19_22174089_22201951	22180935	C C	CCTTTGCC others(245): Show CCTTTGCCACATTCTTCACATTTGTAGGGTTTCTCTCCAGTATGAATTAT CTTATGTTTGGTAAGGATTGAGGATCGATTAAAAGCTTTCCCACATTCTT CACATTTATAGGGTTTCTCTCCAGCATGAATTCTCTTGTGTTCAGTAAGG CTTGAGGACCAGCTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTTT CTCTCCAGTATGAACTCTCTTATGTTCCATAAGATTTGAGGACGAGTTGA AAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp1 HG00609.hp1 HG01257.hp1 others(65): Show HG00408.hp1 HG00609.hp1 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01934.hp2 HG01993.hp2 HG02004.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG02523.hp2 HG02976.hp1 HG03017.hp2 HG03654.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18974.hp1 NA18983.hp2 NA18985.hp2 NA18987.hp1 NA18990.hp1 NA18991.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19062.hp1 NA19064.hp2 NA19068.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp2	a0002 a0008 a0019 a0002 a0008 a0019	a0002c0003 a0002c0017 a0008c0016 others(1): Show a0002c0003 a0002c0017 a0008c0016 a0019c0012	a0002c0003t0001 a0002c0017t0001 a0008c0016t0001 others(1): Show a0002c0003t0001 a0002c0017t0001 a0008c0016t0001 a0019c0012t0001	a0002c0003t0001g0004 a0002c0003t0001g0005 a0002c0003t0001g0011 others(33): Show a0002c0003t0001g0004 a0002c0003t0001g0005 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0015 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0040 a0002c0003t0001g0043 a0002c0003t0001g0045 a0002c0003t0001g0073 a0002c0003t0001g0103 a0002c0003t0001g0106 a0002c0003t0001g0107 a0002c0003t0001g0112 a0002c0003t0001g0113 a0002c0003t0001g0114 a0002c0003t0001g0118 a0002c0003t0001g0119 a0002c0003t0001g0120 a0002c0003t0001g0128 a0002c0003t0001g0129 a0002c0003t0001g0131 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0137 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0001g0145 a0002c0003t0001g0148 a0002c0003t0001g0149 a0002c0003t0001g0163 a0002c0017t0001g0144 a0008c0016t0001g0108 a0019c0012t0001g0071	68	439	0.1549	252	c.781 others(259): Show c.781_782insCTTTCAACTCGTCCTCAAATCTTATGGAACATAAGAGA GTTCATACTGGAGAGAAACCCTACAAATGTGAAGAATGTGGCAAAGCCTT CAGCTGGTCCTCAAGCCTTACTGAACACAAGAGAATTCATGCTGGAGAGA AACCCTATAAATGTGAAGAATGTGGGAAAGCTTTTAATCGATCCTCAATC CTTACCAAACATAAGATAATTCATACTGGAGAGAAACCCTACAAATGTGA AGAATGTGGCAAAG	p.Lys others(265): Show p.Lys260_Gly261insAlaPheAsnSerSerSerAsnLeuMetGluHi sLysArgValHisThrGlyGluLysProTyrLysCysGluGluCysGlyL ysAlaPheSerTrpSerSerSerLeuThrGluHisLysArgIleHisAla GlyGluLysProTyrLysCysGluGluCysGlyLysAlaPheAsnArgSe rSerIleLeuThrLysHisLysIleIleHisThrGlyGluLysProTyrL ysCysGluGluCysGlyLys	ZNF676	ENSG00000196109.9	transcript	ENST00000397121.3	protein_coding	3/3	1099/2946	781/1767	261/588			chr19	TogoVar
ZNF676_chr19_22174089_22201951	22180935	C C	CCTTTGCC others(245): Show CCTTTGCCACATTCTTCACATTTGTAGGGTTTCTCTCCAGTATGAATTAT CTTATGTTTGGTAAGGATTGAGGATCGATTAAAAGCTTTCCCACATTCTT CACATTTGTAGGGTTTCTCTCCAGCATGAATTCTCTTGTGTTCAGTAAGG CTTGAGGACCAGCTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTTT CTCTCCAGTATGAACTCTCTTATGTTCCATAAGATTTGAGGACGAGTTGA AAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0115 a0002c0015t0001g0115	1	439	0.0023	252	c.781 others(259): Show c.781_782insCTTTCAACTCGTCCTCAAATCTTATGGAACATAAGAGA GTTCATACTGGAGAGAAACCCTACAAATGTGAAGAATGTGGCAAAGCCTT CAGCTGGTCCTCAAGCCTTACTGAACACAAGAGAATTCATGCTGGAGAGA AACCCTACAAATGTGAAGAATGTGGGAAAGCTTTTAATCGATCCTCAATC CTTACCAAACATAAGATAATTCATACTGGAGAGAAACCCTACAAATGTGA AGAATGTGGCAAAG	p.Lys others(265): Show p.Lys260_Gly261insAlaPheAsnSerSerSerAsnLeuMetGluHi sLysArgValHisThrGlyGluLysProTyrLysCysGluGluCysGlyL ysAlaPheSerTrpSerSerSerLeuThrGluHisLysArgIleHisAla GlyGluLysProTyrLysCysGluGluCysGlyLysAlaPheAsnArgSe rSerIleLeuThrLysHisLysIleIleHisThrGlyGluLysProTyrL ysCysGluGluCysGlyLys	ZNF676	ENSG00000196109.9	transcript	ENST00000397121.3	protein_coding	3/3	1099/2946	781/1767	261/588			chr19	TogoVar
ZNF676_chr19_22174089_22201951	22181019	G G	GCTTTCCC others(245): Show GCTTTCCCACATTCTTCACATTTATAGGGTTTCTCTCCAGCATGAATTCT CTTGTGTTCAGTAAGGCTTGAGGACCAGCTGAAGGCTTTGCCACATTCTT CACATTTGTAGGGTTTCTCTCCAGTATGAACTCTCTTATGTTCCATAAGA TTTGAGGACGAGTTGAAAGCTTTGCCACATTCTTCACATTTGTAGGGTTT CTCTCCAGTATGAATTATCTTATGTTTAGTAAGGATTGAGGATCGATTAA AAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02258.hp2 HG03471.hp1 HG02258.hp2 HG03471.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0072 a0007c0010t0001g0084 a0007c0010t0001g0072 a0007c0010t0001g0084	2	439	0.0046	252	c.697 others(259): Show c.697_698insGTTTTAATCGATCCTCAATCCTTACTAAACATAAGATA ATTCATACTGGAGAGAAACCCTACAAATGTGAAGAATGTGGCAAAGCTTT CAACTCGTCCTCAAATCTTATGGAACATAAGAGAGTTCATACTGGAGAGA AACCCTACAAATGTGAAGAATGTGGCAAAGCCTTCAGCTGGTCCTCAAGC CTTACTGAACACAAGAGAATTCATGCTGGAGAGAAACCCTATAAATGTGA AGAATGTGGGAAAG	p.Lys others(265): Show p.Lys232_Ala233insGlyPheAsnArgSerSerIleLeuThrLysHi sLysIleIleHisThrGlyGluLysProTyrLysCysGluGluCysGlyL ysAlaPheAsnSerSerSerAsnLeuMetGluHisLysArgValHisThr GlyGluLysProTyrLysCysGluGluCysGlyLysAlaPheSerTrpSe rSerSerLeuThrGluHisLysArgIleHisAlaGlyGluLysProTyrL ysCysGluGluCysGlyLys	ZNF676	ENSG00000196109.9	transcript	ENST00000397121.3	protein_coding	3/3	1015/2946	697/1767	233/588			chr19	TogoVar
ZNF737_chr19_20532992_20570781	20544869	C C	CTCTTATG others(245): Show CTCTTATGTGTAGTAAGGATAGAGAAGCACTTAAAGGCCTTGCCACATTC TTCACACTTGAAGGGTTGCTGTCCAGTATGGATTATCTTATGTGTAGTAA GGGAAGAGGAGTACTTAAAGGCTTCGCCACATTCTTCACATTTGTAGGGT TTCTCTCCAGTATGAATTCTCTTATGTGTAGTAAGGTGTGAGGACCAGTT GAAGGCTTTGCCACATTCTTCACATTTGTAGGGTTTCTCTCCACTATGAA TTA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18522.hp1 NA18522.hp1	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0001 a0014c0018t0001	a0014c0018t0001g0067 a0014c0018t0001g0067	1	336	0.0030	252	c.108 others(261): Show c.1082_1333dupTAATTCATAGTGGAGAGAAACCCTACAAATGTGAAG AATGTGGCAAAGCCTTCAACTGGTCCTCACACCTTACTACACATAAGAGA ATTCATACTGGAGAGAAACCCTACAAATGTGAAGAATGTGGCGAAGCCTT TAAGTACTCCTCTTCCCTTACTACACATAAGATAATCCATACTGGACAGC AACCCTTCAAGTGTGAAGAATGTGGCAAGGCCTTTAAGTGCTTCTCTATC CTTACTACACATAAGA	p.Ile others(13): Show p.Ile361_Lys444dup	ZNF737	ENSG00000237440.9	transcript	ENST00000427401.9	protein_coding	4/4	1474/8352	1333/1611	445/536			chr19	TogoVar
ZNF787_chr19_56082366_56126295	56105887	G G	GCCGCGCC others(245): Show GCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGCAG TCACCGCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCCC CCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCATTCCCCCCTCCGCGC CCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGCAGTCACCGC GCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCATTCCCC CCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp2 HG02622.hp2 others(1): Show HG01243.hp2 HG02559.hp2 HG02622.hp2 HG03540.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0002 a0002c0009t0001 a0002c0009t0002	a0002c0009t0001g0010 a0002c0009t0001g0301 a0002c0009t0002g0106 a0002c0009t0001g0010 a0002c0009t0001g0301 a0002c0009t0002g0106	4	410	0.0098	252	c.-10 others(269): Show c.-10-2661_-10-2660insAGGGGGGAATGCGGAATGCGCGGTGACT GCCGTGGGCGCGGAGGGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGG GCGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGGAATGC GCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGCGGTGACTGCCGTGG GCGCGGAGGGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGCGGAAT GCGCGGTGACTGCCGTGGGCGCGG		ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2						chr19	TogoVar
ZNF787_chr19_56082366_56126295	56105981	T T	TTCCCCCC others(245): Show TTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCATTCCCCCCT CCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGCAGT CACCGCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCA TTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCC CACGGCAGTCACCGCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCG CAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0023 a0002c0016t0074 a0002c0016t0023 a0002c0016t0074	a0002c0016t0023g0295 a0002c0016t0074g0296 a0002c0016t0023g0295 a0002c0016t0074g0296	2	410	0.0049	252	c.-10 others(269): Show c.-10-2755_-10-2754insTTGCGCGGTGACTGCCGTGGGCGCGGAG GGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGCGGAATGCGCGGTG ACTGCCGTGGGCGCGGAGGGGGGAATGCGGAATGCGCGGTGACTGCCGTG GGCGCGGAGGGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGCGGAA TGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGGAATGCGCGGTG ACTGCCGTGGGCGCGGAGGGGGGA		ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2						chr19	TogoVar
ZNF99_chr19_22747183_22789151	22757773	T T	TTTGCCAC others(245): Show TTTGCCACATTCTTCACATTTGTAGGGTTTCTTTCCAGTATGAATTATCT TATGTTTCCTAAGGGCTGAGAAATGGTTAAAAGCTTTGCCACATTCTTCA CATTTGTAGGGTTTCTCTTTAGTATGAATTACTTTATGTCTAGTAAGGTG TGAGGACCACTTAAAAGCTTTACCACATTCTTCACATTTGTAGGGTTTCT CTCCAGTATGAATTATCTCATGTTTTCTAAGGGTTGAGGACTGGCTAAAA GCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02717.hp2 HG02886.hp1 HG02970.hp1 HG02717.hp2 HG02886.hp1 HG02970.hp1	a0000 a0000	a0000c0006 a0000c0006	a0000c0006t0043 a0000c0006t0045 a0000c0006t0046 a0000c0006t0043 a0000c0006t0045 a0000c0006t0046	a0000c0006t0043g0312 a0000c0006t0045g0311 a0000c0006t0046g0313 a0000c0006t0043g0312 a0000c0006t0045g0311 a0000c0006t0046g0313	3	344	0.0087	252	c.213 others(261): Show c.2135_2136insGGCTTTTAGCCAGTCCTCAACCCTTAGAAAACATGA GATAATTCATACTGGAGAGAAACCCTACAAATGTGAAGAATGTGGTAAAG CTTTTAAGTGGTCCTCACACCTTACTAGACATAAAGTAATTCATACTAAA GAGAAACCCTACAAATGTGAAGAATGTGGCAAAGCTTTTAACCATTTCTC AGCCCTTAGGAAACATAAGATAATTCATACTGGAAAGAAACCCTACAAAT GTGAAGAATGTGGCAA	p.Lys others(265): Show p.Lys712_Ala713insAlaPheSerGlnSerSerThrLeuArgLysHi sGluIleIleHisThrGlyGluLysProTyrLysCysGluGluCysGlyL ysAlaPheLysTrpSerSerHisLeuThrArgHisLysValIleHisThr LysGluLysProTyrLysCysGluGluCysGlyLysAlaPheAsnHisPh eSerAlaLeuArgLysHisLysIleIleHisThrGlyLysLysProTyrL ysCysGluGluCysGlyLys	ZNF99	ENSG00000213973.10	transcript	ENST00000596209.4	protein_coding	4/4	2270/7861	2135/2595	712/864			chr19	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(245): Show TTCTATATATATATAAATATATATATTTCTATATATAGAAATATATATAT ATTTCTATATATATAAATATATATATATATATATAGAAATATATATATAT TTCTATATATATAAATATATATATATTTCTATATATATAAATATATATAT ATTTCTATTTATATATATATATATATTTATATATATAGAAATATATATAT ATTTATATATATATAAAATATATATTTATATATATATAAAATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	400	0.0025	252	c.532 others(267): Show c.532+446_532+447insTATATATATATATTTTATATATATATAAAT ATATATTTTATATATATATAAATATATATATATTTCTATATATATAAATA TATATATATATATAAATAGAAATATATATATATTTATATATATAGAAATA TATATATATTTATATATATAGAAATATATATATATTTCTATATATATATA TATATATTTATATATATAGAAATATATATATATTTCTATATATAGAAATA TATATATTTATATATATATAGA		ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6						chr16	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(245): Show TTCTATATATATATAAATATATATATTTCTATATATATAAATATATATAT ATTTATATATATATAAATATATATATATTTATATATATATAAATATATAT ATATTTCTATATATATAAATATATATATATTTCTATATATATAAATATAT ATATATTTCTATTTATATATATATATTTATATATATAGAAATATATATAT ATTTATATATATATAAAATATATATTTATATATATATAAAATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	400	0.0025	252	c.532 others(267): Show c.532+446_532+447insTATATATATATATTTTATATATATATAAAT ATATATTTTATATATATATAAATATATATATATTTCTATATATATAAATA TATATATATAAATAGAAATATATATATATTTATATATATAGAAATATATA TATATTTATATATATAGAAATATATATATATTTATATATATATAAATATA TATATATTTATATATATATAAATATATATATATTTATATATATAGAAATA TATATATTTATATATATATAGA		ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6						chr16	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(245): Show TTCTATATATATATAAATATATATATTTCTATATATATAAATATATATAT ATTTCTATATATATAAATATATATATATTTATATATATAAATATATATAT ATTTCTATATATAGAAATATATATATATTTCTATATATATAAATATATAT ATATTTCTATTTATATATATATATATTTATATATATAGAAATATATATAT ATTTATATATATATAAAATATATATTTATATATATATAAAATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	400	0.0025	252	c.532 others(267): Show c.532+446_532+447insTATATATATATATTTTATATATATATAAAT ATATATTTTATATATATATAAATATATATATATTTCTATATATATAAATA TATATATATATAAATAGAAATATATATATATTTATATATATAGAAATATA TATATATTTCTATATATAGAAATATATATATATTTATATATATAAATATA TATATATTTATATATATAGAAATATATATATATTTATATATATAGAAATA TATATATTTATATATATATAGA		ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6						chr16	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(245): Show TTCTATATATATATAAATATATATATTTCTATATATATAAATATATATAT ATTTCTATATATATAAATATATATATATTTATATATATATAAATATATAT ATATTTATATATATATAAATATATATATATTTCTATATATATAAATATAT ATATATTTCTATTTATATATATATATATTTATATATATAGAAATATATAT ATATTTATATATATATAAAATATATATTTATATATATATAAAATATATAT ATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0207 a0001c0006t0001g0207	1	400	0.0025	252	c.532 others(267): Show c.532+446_532+447insTATATATATATTTTATATATATATAAATAT ATATTTTATATATATATAAATATATATATATTTCTATATATATAAATATA TATATATATAAATAGAAATATATATATATTTATATATATAGAAATATATA TATATTTATATATATATAAATATATATATATTTATATATATATAAATATA TATATATTTATATATATAGAAATATATATATATTTATATATATAGAAATA TATATATTTATATATATATAGA		ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6						chr16	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(245): Show TTCTATATATATATAAATATATATATTTCTATATATATAAATATATATAT ATTTCTATATATATAAATATATATATATTTATATATATATAAATATATAT ATATTTCTATATATATAAATATATATATATTTCTATATATATAAATATAT ATATATTTCTATTTATATATATATATTTATATATATAGAAATATATATAT ATTTATATATATATAAAATATATATTTATATATATATAAAATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01433.hp1 NA19091.hp2 HG01255.hp1 HG01433.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0213 a0001c0001t0001g0228 a0001c0001t0001g0168 a0001c0001t0001g0213 a0001c0001t0001g0228	3	400	0.0075	252	c.532 others(267): Show c.532+446_532+447insTATATATATATATTTTATATATATATAAAT ATATATTTTATATATATATAAATATATATATATTTCTATATATATAAATA TATATATATAAATAGAAATATATATATATTTATATATATAGAAATATATA TATATTTATATATATAGAAATATATATATATTTATATATATATAAATATA TATATATTTATATATATAGAAATATATATATATTTATATATATAGAAATA TATATATTTATATATATATAGA		ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6						chr16	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(245): Show TTCTATATATATATAAATATATATATTTCTATATATATAAATATATATAT ATTTCTATATATATAAATATATATATTTATATATATATAAATATATATAT ATTTCTATATATATAAATATATATATATTTCTATATATATAAATATATAT ATATTTCTATTTATATATATATATATTTATATATATAGAAATATATATAT ATTTATATATATATAAAATATATATTTATATATATATAAAATATATATAT ATA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	400	0.0025	252	c.532 others(267): Show c.532+446_532+447insTATATATATATATTTTATATATATATAAAT ATATATTTTATATATATATAAATATATATATATTTCTATATATATAAATA TATATATATATAAATAGAAATATATATATATTTATATATATAGAAATATA TATATATTTATATATATAGAAATATATATATATTTATATATATATAAATA TATATATTTATATATATAGAAATATATATATATTTATATATATAGAAATA TATATATTTATATATATATAGA		ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6						chr16	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(245): Show TTCTATATATATATAAATATATATATTTCTATATATATAAATATATATAT TTCTATATATATAAATATATATATATTTATATATATATAAATATATATAT ATTTCTATATATAGAAATATATATATATTTCTATATATATAAATATATAT ATATTTCTATTTATATATATATATATTTATATATATAGAAATATATATAT ATTTATATATATATAAAATATATATTTATATATATATAAAATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03540.hp1 HG01891.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	2	400	0.0050	252	c.532 others(267): Show c.532+446_532+447insTATATATATATATTTTATATATATATAAAT ATATATTTTATATATATATAAATATATATATATTTCTATATATATAAATA TATATATATATAAATAGAAATATATATATATTTATATATATAGAAATATA TATATATTTCTATATATAGAAATATATATATATTTATATATATATAAATA TATATATATTTATATATATAGAAATATATATATTTATATATATAGAAATA TATATATTTATATATATATAGA		ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6						chr16	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(245): Show TTCTATATATATATAAATATATATATTTCTATATATATAAATATATATAT TTCTATATATATAAATATATATATATTTATATATATATAAATATATATAT ATTTCTATATATATAAATATATATATATTTCTATATATATAAATATATAT ATATTTCTATTTATATATATATATATTTATATATATAGAAATATATATAT ATTTATATATATATAAAATATATATTTATATATATATAAAATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03453.hp1 HG03579.hp1 HG02572.hp2 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0178 a0001c0001t0001g0280 a0001c0001t0001g0281	3	400	0.0075	252	c.532 others(267): Show c.532+446_532+447insTATATATATATATTTTATATATATATAAAT ATATATTTTATATATATATAAATATATATATATTTCTATATATATAAATA TATATATATATAAATAGAAATATATATATATTTATATATATAGAAATATA TATATATTTATATATATAGAAATATATATATATTTATATATATATAAATA TATATATATTTATATATATAGAAATATATATATTTATATATATAGAAATA TATATATTTATATATATATAGA		ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6						chr16	TogoVar
ABHD12B_chr14_50867053_50909970	50870953	A A	AAGAAAGA others(246): Show AAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAA GAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAGAAGAAAGAAAGAAAG AAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	376	0.0027	253	c.-12 others(264): Show c.-1222_-1221insAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAG AGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG AAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAG AGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAG AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAG		ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding					1099		chr14	TogoVar
ABR_chr17_998519_1184981	1173225	A A	ACATCACC others(246): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTC AGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAG TCCACCCCCCCGACATCACCTCAGCCCACCCCCCCACACATCACCTCAGC CCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCC CCCC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0213 a0001c0001t0070g0213	1	337	0.0030	253	c.61+ others(268): Show c.61+6441_61+6442insGGGGGGGTGGGCTGAGGTGATGTGTTGGGT GGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGTGGG CTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACT GAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGA GGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGAT GTGTTGGGTGGGCTGAGGTGATG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22						chr17	TogoVar
ACER3_chr11_76855918_77031797	77005992	T T	TATACATA others(246): Show TATACATATATATATATTATATATATATACGTATATATATTATATATATA TACGTATATATATTATATATATATACGTATATATATAATATATATATACG TATATATATATTATATATATATACGTATATATATATTATATATATATACG TATATATATATTATATATATATACGTATATATATATATTATATATATACG TATATATATATTATATATATATACGTATATATATATTATATATATATACG TATA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0310 a0002c0004t0006g0310	1	346	0.0029	253	c.497 others(270): Show c.497+7171_497+7172insATACATATATATATATTATATATATATA CGTATATATATTATATATATATACGTATATATATTATATATATATACGTA TATATATAATATATATATACGTATATATATATTATATATATATACGTATA TATATATTATATATATATACGTATATATATATTATATATATATACGTATA TATATATATTATATATATACGTATATATATATTATATATATATACGTATA TATATATTATATATATATACGTATA		ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10						chr11	TogoVar
ACER3_chr11_76855918_77031797	77005992	T T	TATACATA others(246): Show TATACATATATATATTATATATATATACGTATATATATTATATATATATA CGTATATATATAATATATATATACGTATATATATATTATATATATATACG TATATATATATTATATATATATACGTATATATATATTATATATATATACG TATATATATATTATATATATATACGTATATATATATTATATATATATACG TATATATATATTATATATATATACGTATATATATATTATATATATATACG TATA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0087 a0002c0004t0087	a0002c0004t0087g0250 a0002c0004t0087g0250	1	346	0.0029	253	c.497 others(270): Show c.497+7171_497+7172insATACATATATATATTATATATATATACG TATATATATTATATATATATACGTATATATATAATATATATATACGTATA TATATATTATATATATATACGTATATATATATTATATATATATACGTATA TATATATTATATATATATACGTATATATATATTATATATATATACGTATA TATATATTATATATATATACGTATATATATATTATATATATATACGTATA TATATATTATATATATATACGTATA		ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10						chr11	TogoVar
ACTN4_chr19_38642649_38736589	38736581	A A	AAGGGGCG others(246): Show AAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGG GGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCG TCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGG GGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCA GGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGG AGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0225 a0001c0004t0005g0225	1	314	0.0032	253	c.71 others(264): Show c.7149_*7150insAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGG GGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCA GGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGG AGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAG AGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGG GCGTCGGGGCAGGGGAGAG		ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding					4993		chr19	TogoVar
ACTRT2_chr1_3016467_3027903	3016683	G G	GGGAGGGA others(246): Show GGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGA GGGAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAGGGAGGGCAGGAGGAG GGGAGGGAGGGAGGAAGGGAAGAAGGGAGGGGAGAGGAAGAGCAGGAGGA AGGTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGAGGGAGGAAGCGAGGA GGAGAGGGAGGGAGGTGGGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGG GGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03098.hp1 HG03209.hp1 others(3): Show HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03471.hp1 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0000 a0001c0007t0001g0000 a0001c0001t0001g0000 a0001c0007t0001g0000	6	366	0.0164	253	c.-50 others(264): Show c.-5004_-5003insGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAG GGAAGGAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAG GGAGGGCAGGAGGAGGGGAGGGAGGGAGGAAGGGAAGAAGGGAGGGGAGA GGAAGAGCAGGAGGAAGGTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGA GGGAGGAAGCGAGGAGGAGAGGGAGGGAGGTGGGAGGGAGGGAGGATGGT GGGAGGGAGGGAGGGGGGA		ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding					4783		chr1	TogoVar
ADGRA1_chr10_133082924_133136675	133111675	C C	CACCACAG others(246): Show CACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG GCACCTCCCTCCTAATCCCCCCAGACAACCTGCCCACCACGGGCACCTCC CTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCGCCACGGGCACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTG CCCA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0232 a0001c0003t0004g0232	1	368	0.0027	253	c.401 others(270): Show c.401+8833_401+8834insACCACAGGCACCTCCCTCCTAATCCCAC CAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCCCCAGACAAC CTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCAC CACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCGCCACGGGCA CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTC CTAATCCCACCAGACCACCTGCCCA		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6						chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111675	C C	CACCACGG others(246): Show CACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGG ACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTCC CTCCTAATGCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAG ACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCCCCAGACAACCTG CCCA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0212 a0001c0001t0034g0212	1	368	0.0027	253	c.401 others(270): Show c.401+8833_401+8834insACCACGGGCACCTCCCTCCTAATCCCTC CAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCTCCAGACAAC CTGCCCACCACGGGCACCTCCCTCCTAATGCCTCCAGACAACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCA CCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTC CTAATCCCCCCAGACAACCTGCCCA		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6						chr10	TogoVar
ADGRB1_chr8_142444649_142550007	142500220	C C	CCGCGCCG others(246): Show CCGCGCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCCACCTCCCCACGC GCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCCACCTCCCCACGCGCCG CTCCTCCACCTCCCCACGCGCCGCTCCTCCACCTCCCCCCGCGCCGCTCC TCCACCTCCCCCCGCGCCGCTCCTCCACCTCCCCCCGCGCCGCTCCTCCC CTGCCCCCCACGCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCCACCTC CCCA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0133 a0001c0007t0001g0133	1	310	0.0032	253	c.267 others(272): Show c.2675+9511_2675+9512insACCTCCCCACGCGCCGCTCCTCCACC TCCCCCCGCGCCGCTCCTCCACCTCCCCCCGCGCCGCTCCTCCACCTCCC CCCGCGCCGCTCCTCCCCTGCCCCCCACGCCGCTCCTCCACCTCCCCACG CGCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCCACCTCCCCACGCGCC GCTCCTCCACCTCCCCACGCGCCGCTCCTCCACCTCCCCACGCGCCGCTC CTCCACCTCCCCACGCGCCGCTCCTCC		ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30					INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRB3_chr6_68630282_69394506	69100852	G G	GGGAAGGA others(246): Show GGGAAGGAAGGAAGGAAGAAGCGAGGGAGGGAAGGAAGGAAGGAGGGAGG GAGGGAAGGAAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGAAGGAGGGA GGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGGGAGGGAGG GAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGAAGGCAGGG AGTGAGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAAGAAGGGAG GGAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0051 a0001c0002t0004g0051	1	120	0.0083	253	c.248 others(274): Show c.2480+24831_2480+24832insAAGCGAGGGAGGGAAGGAAGGAAG GAGGGAGGGAGGGAAGGAAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGA AGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGG GAGGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGA AGGCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAA GAAGGGAGGGAAGGAAGGAAGGAAGGAAG		ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	17/31					INFO_REALIGN_3_PRIME	chr6	TogoVar
AHRR_chr5_316714_443285	318187	A A	ACCCTGCA others(246): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCCCCCTCACCCTGCACCTCCCCCAATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCC CTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCAC CCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0012 a0003c0004t0012	a0003c0004t0012g0001 a0003c0004t0012g0001	2	268	0.0075	253	c.-36 others(264): Show c.-3643_-3642insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCCCCCTCACCCTGCACCTCCCCCAATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCT TCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCA CCCTGCACCTCCCACCCTT		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding					3526		chr5	TogoVar
AHRR_chr5_316714_443285	391720	G G	GGCAGGGC others(246): Show GGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGAC ACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGGCG CAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGAACAC ACGGGTGCAGGGCGAGGCAGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCA CGGACGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCAC GGAC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	268	0.0037	253	c.351 others(272): Show c.351+15051_351+15052insACACAGGGCGAGGAGGGCGCAGGGTG AGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGA GGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGGCGAGGCAGGCGC AGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAGGAGGGCGCA GGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAGGAGGGCGCAG GGCGAGGCAGGGCCAGAGCGTGCACGG		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AK5_chr1_77277019_77564966	77367853	T T	TTATATGT others(246): Show TTATATGTTATATATATTATATATAATATATGTTATATATATTATATGTT ATATATATTATATATAATATATGTTATATATATTATATATTATATGTTAT ATATATTATATATAATATATGTTATATATATTATATGTTATATATATTAT ATATAATATGTTATATATATTATATATAACATATATTATATATAATATAT ATGTTATATATAACATATGTTATATATATTATATATAACATATGTTATAT ATAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	284	0.0035	253	c.891 others(272): Show c.891+27285_891+27286insTATATGTTATATATATTATATATAAT ATATGTTATATATATTATATGTTATATATATTATATATAATATATGTTAT ATATATTATATATTATATGTTATATATATTATATATAATATATGTTATAT ATATTATATGTTATATATATTATATATAATATGTTATATATATTATATAT AACATATATTATATATAATATATATGTTATATATAACATATGTTATATAT ATTATATATAACATATGTTATATATAA		AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13						chr1	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(246): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGA GGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGG GAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGG AGGGGAGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGAGGGGGGGGAGGG GAGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01074.hp2 others(22): Show HG00642.hp1 HG00741.hp2 HG01074.hp2 HG01099.hp2 HG01256.hp2 HG02451.hp2 HG02559.hp1 HG03041.hp2 HG03139.hp1 HG03490.hp1 HG03516.hp2 HG03834.hp2 HG04115.hp1 NA18949.hp1 NA18965.hp1 NA18965.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18990.hp2 NA18991.hp1 NA19004.hp1 NA19082.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0050 a0002c0003t0014	a0001c0001t0001g0159 a0001c0001t0001g0201 a0001c0001t0004g0146 others(22): Show a0001c0001t0001g0159 a0001c0001t0001g0201 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0153 a0001c0001t0004g0155 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0192 a0001c0001t0004g0199 a0001c0001t0004g0270 a0001c0001t0013g0331 a0001c0001t0013g0335 a0001c0001t0013g0336 a0001c0001t0016g0148 a0001c0001t0016g0200 a0001c0001t0017g0352 a0001c0001t0017g0353 a0001c0001t0017g0354 a0001c0001t0050g0339 a0002c0003t0014g0138 a0002c0003t0014g0139	25	356	0.0702	253	c.667 others(268): Show c.667-817_667-816insTCTCCCCTCCCCCCCCTCCCTTCTCTCTCC CCTCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTC CCCCTTCCCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCT CCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCC TCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCT CTCCCCCCTCTCCCCCTCTCCCC		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13						chr16	TogoVar

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