Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FMN2_chr1_240086883_240480187	240184928	A A	ACTTTCTC others(448): Show ACTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATAACTT CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCT CCCTCCTATAACTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCC CCCTTCTCTTTCTCCCTCCTATAACTTCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATAACTTCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATAACTTCC CCTTCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0068 a0068	a0068c0054 a0068c0054	a0068c0054t0003 a0068c0054t0003	a0068c0054t0003g0027 a0068c0054t0003g0027	1	174	0.0058	455	c.193 others(474): Show c.1931-3255_1931-3254insCTTCTCTTTCTCCCTCCTATAACTTC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTC CCTCCTATAACTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCC CCTTCTCTTTCTCCCTCCTATAACTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATAACTTCCCCTTCTCT TTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATAACTTCCC CTTCTCTTTCTCCCTCCTATACCTTCCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
GABRA3_chrX_152161234_152456315	152182722	G G	GTATAGTG others(448): Show GTATAGTGTATATATACACTATATATACACTATATATGTATAGTATATAT ACACTATATATAGTATATATACACTATATATAGTATATATACACTATATA TAGTATATATACACTATATATAGTATATATACACTATATATAGTATATAT ACACTATATATATAGTATATATACACTATATATATAGTATATATACAATA TATAGTGTATATATACACTGTATATGTATATATAGTGTATATATACACTA TATATACACTGTATATGTATATATAGTGTATATATACACTATACACTGTA TATGTATATATAGTGTATATATACACTATACACTGTATATGTATATATAG TGTATATATACACTATACACTGTATATGTATATATAGTGTATATATACAC TATACACTGTATATGTATATATAGTGTATATATACACTATACACTGTATA TGTATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0077 a0001c0001t0008g0077	1	204	0.0049	455	c.114 others(474): Show c.1143+7007_1143+7008insTATACATATACAGTGTATAGTGTATA TATACACTATATATACATATACAGTGTATAGTGTATATATACACTATATA TACATATACAGTGTATAGTGTATATATACACTATATATACATATACAGTG TATAGTGTATATATACACTATATATACATATACAGTGTATAGTGTATATA TACACTATATATACATATACAGTGTATATATAGTGTATATATACACTATA TATACATATACAGTGTATATATACACTATATATTGTATATATACTATATA TATAGTGTATATATACTATATATATAGTGTATATATACTATATATAGTGT ATATATACTATATATAGTGTATATATACTATATATAGTGTATATATACTA TATATAGTGTATATATACTATATATAGTGTATATATACTATACATATATA GTGTATATATAGTGTATATATACACTATA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GABRA3_chrX_152161234_152456315	152182738	C C	CACTATAT others(448): Show CACTATATATACACTATATATGTATAGTATATATACACTATATATAGTAT ATATACACTATATATATAGTGTATATACACTATATATATAGTATATATAC ACTATATATATAGTATATATACACTATATATACACTATATATGTATATAT ATACATATATAGTGTATATATAGTGTATATATACACTGTATATGTATATA TAGTGTATATATACACTATATATACACTGTATATGTATATATAGTGTATA TATACACTATACACTGTATATGTATATATAGTGTATATATACACTATACA CTGTATATGTATATATAGTGTATATATACACTATACACTGTATATGTATA TATAGTGTATATATACACTATACACTGTATATGTATATATAGTGTATATA TACACTATATATACACTATATAGTGTATATATAGTATATATATACTGTAT ATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(83): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01167.hp1 HG01175.hp1 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG02015.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02559.hp2 HG02615.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG03017.hp1 HG03041.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03579.hp1 HG03710.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18945.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18970.hp1 NA18975.hp1 NA18977.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19070.hp1 NA19082.hp1 NA19083.hp1 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0017	a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 others(83): Show a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0010g0078 a0001c0001t0010g0085 a0001c0001t0017g0199	86	204	0.4216	455	c.114 others(474): Show c.1143+6991_1143+6992insATATATATACAGTATATATATACTAT ATATACACTATATAGTGTATATATAGTGTATATATACACTATATATACAT ATACAGTGTATAGTGTATATATACACTATATATACATATACAGTGTATAG TGTATATATACACTATATATACATATACAGTGTATAGTGTATATATACAC TATATATACATATACAGTGTATAGTGTATATATACACTATATATACATAT ACAGTGTATATATAGTGTATATATACACTATATATACATATACAGTGTAT ATATACACTATATATACACTATATATGTATATATATACATATATAGTGTA TATATAGTGTATATATACTATATATATAGTGTATATATACTATATATATA GTGTATATACACTATATATATAGTGTATATATACTATATATAGTGTATAT ATACTATACATATATAGTGTATATATAGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GABRA3_chrX_152161234_152456315	152182738	C C	CACTATAT others(448): Show CACTATATATACACTATATATGTATAGTATATATACACTATATATAGTAT ATATACACTATATATATAGTGTATATACACTATATATATAGTATATATAC ACTATATATATAGTATATATACACTATATATACACTATATATGTATATAT ATACATATATAGTGTATATATAGTGTATATATACACTGTATATGTATATA TAGTGTATATATACACTATATATACACTGTATATGTATATATAGTGTATA TATACACTATACACTGTATATGTATATATAGTGTATATATACACTATACA CTGTATATGTATATATAGTGTATATATACACTATACACTGTATATGTATA TATAGTGTATATATACACTATACACTGTATATGTATATATAGTGTATATA TACACTATATATACACTGTATAGTGTATATATAGTATATATATACTGTAT ATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	204	0.0049	455	c.114 others(474): Show c.1143+6991_1143+6992insATATATATACAGTATATATATACTAT ATATACACTATACAGTGTATATATAGTGTATATATACACTATATATACAT ATACAGTGTATAGTGTATATATACACTATATATACATATACAGTGTATAG TGTATATATACACTATATATACATATACAGTGTATAGTGTATATATACAC TATATATACATATACAGTGTATAGTGTATATATACACTATATATACATAT ACAGTGTATATATAGTGTATATATACACTATATATACATATACAGTGTAT ATATACACTATATATACACTATATATGTATATATATACATATATAGTGTA TATATAGTGTATATATACTATATATATAGTGTATATATACTATATATATA GTGTATATACACTATATATATAGTGTATATATACTATATATAGTGTATAT ATACTATACATATATAGTGTATATATAGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GABRA3_chrX_152161234_152456315	152182738	C C	CACTATAT others(448): Show CACTATATATACACTATATATGTATAGTATATATACACTATATATAGTAT ATATACACTATATATATAGTGTATATACACTATATATATAGTATATATAC ACTATATATATAGTATATATACACTATATATACACTATATATGTATATAT ATACATATATAGTGTATATATAGTGTATATATACACTGTATATGTATATA TAGTGTATATATACACTATATATACACTGTATATGTATATATAGTGTATA TATACACTATACACTGTATATGTATATATAGTGTATATATACACTATACA CTGTATATGTATATATAGTGTATATATACACTATACACTGTATATGTATA TATAGTGTATATATACACTATACACTGTATATGTATATATAGTGTATATA TACACTATATATACAGTATATAGTGTATATATAGTATATATATACTGTAT ATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	204	0.0049	455	c.114 others(474): Show c.1143+6991_1143+6992insATATATATACAGTATATATATACTAT ATATACACTATATACTGTATATATAGTGTATATATACACTATATATACAT ATACAGTGTATAGTGTATATATACACTATATATACATATACAGTGTATAG TGTATATATACACTATATATACATATACAGTGTATAGTGTATATATACAC TATATATACATATACAGTGTATAGTGTATATATACACTATATATACATAT ACAGTGTATATATAGTGTATATATACACTATATATACATATACAGTGTAT ATATACACTATATATACACTATATATGTATATATATACATATATAGTGTA TATATAGTGTATATATACTATATATATAGTGTATATATACTATATATATA GTGTATATACACTATATATATAGTGTATATATACTATATATAGTGTATAT ATACTATACATATATAGTGTATATATAGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GABRA3_chrX_152161234_152456315	152182738	C C	CACTATAT others(448): Show CACTATATATACACTATATATGTATAGTATATATACACTATATATAGTAT ATATACACTATATATATAGTGTATATACACTATATATATAGTATATATAC ACTATATATATAGTATATATACACTATATATACACTATATATGTATATAT ATACATATATAGTGTATATATAGTGTATATATACACTGTATATGTATATA TAGTGTATATATACACTATATATACACTGTATATGTATATATAGTGTATA TATACACTATACACTGTATATGTATATATAGTGTATATATACACTATACA CTGTATATGTATATATAGTGTATATATACACTATACAGTGTATATGTATA TATAGTGTATATATACACTATACACTGTATATGTATATATAGTGTATATA TACACTATATATACACTATATAGTGTATATATAGTATATATATACTGTAT ATATAT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	204	0.0049	455	c.114 others(474): Show c.1143+6991_1143+6992insATATATATACAGTATATATATACTAT ATATACACTATATAGTGTATATATAGTGTATATATACACTATATATACAT ATACAGTGTATAGTGTATATATACACTATATATACATATACACTGTATAG TGTATATATACACTATATATACATATACAGTGTATAGTGTATATATACAC TATATATACATATACAGTGTATAGTGTATATATACACTATATATACATAT ACAGTGTATATATAGTGTATATATACACTATATATACATATACAGTGTAT ATATACACTATATATACACTATATATGTATATATATACATATATAGTGTA TATATAGTGTATATATACTATATATATAGTGTATATATACTATATATATA GTGTATATACACTATATATATAGTGTATATATACTATATATAGTGTATAT ATACTATACATATATAGTGTATATATAGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GALNT9_chr12_132191372_132334589	132241783	T T	TAAACACA others(448): Show TAAACACACAACACACCCCCTTCCCAGGGCCCTCCCTATACCCATTACAC ACACAACACACACTTCCCGGGGCCCTCCCTATACCCATTACACACACGCC ACACCCCCTTCCCGGGGCCCTCCCTATACCCATTAAACACACGCCACACC CCCTTCCCGGGGCCCTCCCTATACCCATTAAACACACAACACACCCCCTT CCCGGGGCCCTCCCTATCCCCATTAAACACACAACACACACCCCCTTCCC AGGGCCCTCCCTATACCCATTACACACACAACACACACTTCCCGGGGGCC CTCCCTATACCCATTACACACACAAAACACACACCCTTCCCGGGGCCCTC CCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTAT TACCCATTACACACACACCACACCCCCTTCCCGGGGGCCCTCCCTATACC CATTAC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0137 a0001c0003t0001g0137	1	183	0.0055	455	c.107 others(474): Show c.1077+6126_1077+6127insGTAATGGGTATAGGGAGGGCCCCCGG GAAGGGGGTGTGGTGTGTGTGTAATGGGTAATAGGGAGGGCCCCGGGAAG GGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGT GTGTTTTGTGTGTGTAATGGGTATAGGGAGGGCCCCCGGGAAGTGTGTGT TGTGTGTGTAATGGGTATAGGGAGGGCCCTGGGAAGGGGGTGTGTGTTGT GTGTTTAATGGGGATAGGGAGGGCCCCGGGAAGGGGGTGTGTTGTGTGTT TAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTTTAATG GGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTAT AGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGG GCCCTGGGAAGGGGGTGTGTTGTGTGTTT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GNAL_chr18_11684264_11890685	11874556	C C	CTGCACTC others(448): Show CTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAA AAAAGTGCAGACTTATGCATGGTGACAGGAAGCACATCGGTGGTTGCCTC GGGAAGGAGGGCTGCAGAGGGAATGCAGACGCTGTGGGAGGGTCCGGCTG TGCTCATTGTTTCCATGTAGTGATGCTGGCATGACAACACACACGCCAGA ACTCCTCAGACGGGCCAGGCGTGGTGGCTCACACCTATAATCCCAACACT TTGGGAGTCTGAGGCGTGCAGATCACCTGAGGTCAGGAGTTCAAGACCAG CGTGGCCAACACGGTGAAACCCCATCTCTACTAAAAACACAAAAATTAGC CAGGCATGGTGGCCAGCACCTATAATCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCGAGATTG CACCAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00733.hp1 others(16): Show HG00438.hp2 HG00544.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01167.hp1 HG01192.hp1 HG01261.hp1 HG01952.hp2 HG01978.hp1 HG02040.hp2 HG02080.hp2 HG02155.hp1 HG02683.hp2 HG03942.hp1 NA18941.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0021 a0001c0001t0033 a0001c0001t0080 a0001c0001t0099 a0001c0001t0104 a0001c0001t0107 a0001c0001t0143 a0001c0001t0144 a0001c0001t0150 a0001c0001t0171 a0001c0001t0174 a0002c0002t0046 a0002c0002t0048 a0002c0002t0056 a0002c0006t0068	a0001c0001t0001g0164 a0001c0001t0002g0222 a0001c0001t0009g0242 others(16): Show a0001c0001t0001g0164 a0001c0001t0002g0222 a0001c0001t0009g0242 a0001c0001t0021g0168 a0001c0001t0033g0018 a0001c0001t0033g0025 a0001c0001t0080g0108 a0001c0001t0099g0124 a0001c0001t0104g0155 a0001c0001t0107g0214 a0001c0001t0143g0163 a0001c0001t0144g0115 a0001c0001t0150g0143 a0001c0001t0171g0077 a0001c0001t0174g0074 a0002c0002t0046g0050 a0002c0002t0048g0083 a0002c0002t0056g0046 a0002c0006t0068g0082	19	248	0.0766	455	c.116 others(474): Show c.1163-2050_1163-2049insTGACAGAGCGAGACTCCATCTCAAAA AAAAAAAAAAAAGTGCAGACTTATGCATGGTGACAGGAAGCACATCGGTG GTTGCCTCGGGAAGGAGGGCTGCAGAGGGAATGCAGACGCTGTGGGAGGG TCCGGCTGTGCTCATTGTTTCCATGTAGTGATGCTGGCATGACAACACAC ACGCCAGAACTCCTCAGACGGGCCAGGCGTGGTGGCTCACACCTATAATC CCAACACTTTGGGAGTCTGAGGCGTGCAGATCACCTGAGGTCAGGAGTTC AAGACCAGCGTGGCCAACACGGTGAAACCCCATCTCTACTAAAAACACAA AAATTAGCCAGGCATGGTGGCCAGCACCTATAATCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGC CGAGATTGCACCATTGCACTCCAGCCTGG	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11684264_11890685	11874556	C C	CTGCACTC others(448): Show CTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAA AAAAGTGCAGACTTATGCATGGTGACAGGAAGCACATCGGTGGTTGCCTC GGGAAGGAGGGCTGCAGAGGGAATGCAGGCGCTGTGGGAGGGTCCGGCTG TGCTCATTGTTTCCATGTAGTGATGCTGGCATGACAACACACACGCCAGA ACTCCTCAGACGGGCCAGGCGTGGTGGCTCACACCTATAATCCCAACACT TTGGGAGTCTGAGGCGTGCAGATCACCTGAGGTCAGGAGTTCAAGACCAG CGTGGCCAACACGGTGAAACCCCATCTCTACTAAAAACACAAAAATTAGC CAGGCATGGTGGCCAGCACCTATAATCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCGAGATTG CACCAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02895.hp1 HG02897.hp2 others(1): Show HG01074.hp1 HG02895.hp1 HG02897.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0012 a0001c0001t0166 a0001c0001t0010 a0001c0001t0012 a0001c0001t0166	a0001c0001t0010g0216 a0001c0001t0012g0244 a0001c0001t0012g0245 others(1): Show a0001c0001t0010g0216 a0001c0001t0012g0244 a0001c0001t0012g0245 a0001c0001t0166g0008	4	248	0.0161	455	c.116 others(474): Show c.1163-2050_1163-2049insTGACAGAGCGAGACTCCATCTCAAAA AAAAAAAAAAAAGTGCAGACTTATGCATGGTGACAGGAAGCACATCGGTG GTTGCCTCGGGAAGGAGGGCTGCAGAGGGAATGCAGGCGCTGTGGGAGGG TCCGGCTGTGCTCATTGTTTCCATGTAGTGATGCTGGCATGACAACACAC ACGCCAGAACTCCTCAGACGGGCCAGGCGTGGTGGCTCACACCTATAATC CCAACACTTTGGGAGTCTGAGGCGTGCAGATCACCTGAGGTCAGGAGTTC AAGACCAGCGTGGCCAACACGGTGAAACCCCATCTCTACTAAAAACACAA AAATTAGCCAGGCATGGTGGCCAGCACCTATAATCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGC CGAGATTGCACCATTGCACTCCAGCCTGG	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11874556	C C	CTGCACTC others(448): Show CTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAA AAAAGTGCAGACTTATGCATGGTGACAGGAAGCACATCGGTGGTTGCCTC GGGAAGGAGGGCTGCAGAGGGAATGCAGACGCTGTGGGAGGGTCCGGCTG TGCTCATTGTTTCCATGTAGTGATGCTGGCATGACAACACACACGCCAGA ACTCCTCAGACGGGCCAGGCGTGGTGGCTCACACCTATAATCCCAACACT TTGGGAGTCTGAGGCGTGCAGATCACCTGAGGTCAGGAGTTCAAGACCAG CGTGGCCAACACGGTGAAACCCCATCTCTACTAAAAACACAAAAATTAGC CAGGCATGGTGGCCAGCACCTATAATCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCGAGATTG CACCAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00609.hp1 others(18): Show HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01167.hp1 HG01192.hp1 HG01261.hp2 HG01952.hp1 HG01978.hp2 HG02040.hp2 HG02080.hp2 HG02155.hp1 HG02683.hp1 NA18941.hp2 NA18959.hp1 NA18985.hp1 NA19078.hp2 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0045 a0001c0001t0049 a0001c0001t0060 a0001c0001t0085 a0001c0001t0096 a0001c0001t0102 a0001c0001t0134 a0001c0001t0147 a0001c0001t0150	a0001c0001t0001g0080 a0001c0001t0002g0047 a0001c0001t0002g0134 others(18): Show a0001c0001t0001g0080 a0001c0001t0002g0047 a0001c0001t0002g0134 a0001c0001t0004g0220 a0001c0001t0005g0236 a0001c0001t0005g0278 a0001c0001t0013g0214 a0001c0001t0017g0101 a0001c0001t0018g0046 a0001c0001t0029g0051 a0001c0001t0031g0131 a0001c0001t0033g0210 a0001c0001t0045g0169 a0001c0001t0049g0283 a0001c0001t0060g0048 a0001c0001t0085g0207 a0001c0001t0096g0208 a0001c0001t0102g0028 a0001c0001t0134g0213 a0001c0001t0147g0074 a0001c0001t0150g0076	21	284	0.0739	455	c.932 others(472): Show c.932-2050_932-2049insTGACAGAGCGAGACTCCATCTCAAAAAA AAAAAAAAAAGTGCAGACTTATGCATGGTGACAGGAAGCACATCGGTGGT TGCCTCGGGAAGGAGGGCTGCAGAGGGAATGCAGACGCTGTGGGAGGGTC CGGCTGTGCTCATTGTTTCCATGTAGTGATGCTGGCATGACAACACACAC GCCAGAACTCCTCAGACGGGCCAGGCGTGGTGGCTCACACCTATAATCCC AACACTTTGGGAGTCTGAGGCGTGCAGATCACCTGAGGTCAGGAGTTCAA GACCAGCGTGGCCAACACGGTGAAACCCCATCTCTACTAAAAACACAAAA ATTAGCCAGGCATGGTGGCCAGCACCTATAATCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCG AGATTGCACCATTGCACTCCAGCCTGG	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11874556	C C	CTGCACTC others(448): Show CTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAA AAAAGTGCAGACTTATGCATGGTGACAGGAAGCACATCGGTGGTTGCCTC GGGAAGGAGGGCTGCAGAGGGAATGCAGGCGCTGTGGGAGGGTCCGGCTG TGCTCATTGTTTCCATGTAGTGATGCTGGCATGACAACACACACGCCAGA ACTCCTCAGACGGGCCAGGCGTGGTGGCTCACACCTATAATCCCAACACT TTGGGAGTCTGAGGCGTGCAGATCACCTGAGGTCAGGAGTTCAAGACCAG CGTGGCCAACACGGTGAAACCCCATCTCTACTAAAAACACAAAAATTAGC CAGGCATGGTGGCCAGCACCTATAATCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCGAGATTG CACCAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG02895.hp1 others(2): Show HG01074.hp2 HG01109.hp2 HG02895.hp1 HG02897.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0041 a0001c0001t0046 others(1): Show a0001c0001t0005 a0001c0001t0041 a0001c0001t0046 a0001c0001t0047	a0001c0001t0005g0173 a0001c0001t0041g0067 a0001c0001t0046g0256 others(2): Show a0001c0001t0005g0173 a0001c0001t0041g0067 a0001c0001t0046g0256 a0001c0001t0046g0257 a0001c0001t0047g0119	5	284	0.0176	455	c.932 others(472): Show c.932-2050_932-2049insTGACAGAGCGAGACTCCATCTCAAAAAA AAAAAAAAAAGTGCAGACTTATGCATGGTGACAGGAAGCACATCGGTGGT TGCCTCGGGAAGGAGGGCTGCAGAGGGAATGCAGGCGCTGTGGGAGGGTC CGGCTGTGCTCATTGTTTCCATGTAGTGATGCTGGCATGACAACACACAC GCCAGAACTCCTCAGACGGGCCAGGCGTGGTGGCTCACACCTATAATCCC AACACTTTGGGAGTCTGAGGCGTGCAGATCACCTGAGGTCAGGAGTTCAA GACCAGCGTGGCCAACACGGTGAAACCCCATCTCTACTAAAAACACAAAA ATTAGCCAGGCATGGTGGCCAGCACCTATAATCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCG AGATTGCACCATTGCACTCCAGCCTGG	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(448): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC TTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTT CTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCT CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCC CCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCA ACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCCCCGCCC CTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	422	0.0024	455	c.31 others(466): Show c.3138_*3139insGGGGAGGGGCGGGGCGGGGCGGGGCGGCACGGGG CCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGC AGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCAC ACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACAC GGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGC AGTGTGGTTGGGGGAGAAGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2460		chr16	TogoVar
GOLT1A_chr1_204193163_204218988	204195224	T T	TACACACA others(448): Show TACACACACATCATACACAAACACACCACACACATATATACGCACACACC CATACACACACACACCACACACACCACACATGCACACCACACACATATAC ACACATACACCCATACACACACATCATACACACACACACCACACACATAC ACCACACACACCACACATGCACACACACCACACACATATATACGCATACA CCCATACACACATCATACACACACCACACACACCACACATGCACACCACA CACATACACGCATACACCCATACACACACATCATACACACACACACCACA CACACCACACACATATACGCATACACCCATACACACACATCATACACACA CATACACCACACACACCACACACGCACACCACACACATATACACACATAC ACCCATGCACACACATCATACACACACAAACCACACATACCACACACATA CACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	414	0.0024	455	c.32 others(466): Show c.3233_*3234insGTGGTGTATGTGTGTGGTATGTGTGGTTTGTGTG TGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGGTGTGCG TGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTATGGGTGT ATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATGTGTGTG TATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGTGTGGT GTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGTGTGT GTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTATGAT GTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGCATGTGTGGT GTGTGTGGTGTGTGTGTGTATGGGTGTGTGCGTATATATGTGTGTGGTGT GTTTGTGTATGATGTGTGTGT	GOLT1A	ENSG00000174567.8	transcript	ENST00000308302.4	protein_coding		2938		chr1	TogoVar
GOLT1A_chr1_204193163_204218988	204195224	T T	TACACACA others(448): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACACCACACATGCACACCACACACATATAC ACACATACACCCATACACACACATCATACACACACACACCACACACACAC ACCACACACACCACACATGCACACACACCACACACATATATACGCATACA CCCATACACACATCATACACACACCACACACACCACACATGCACACCACA CACATACACGCATACACCCATACACACACATCATACACACACACACCACA CACACCACACACATATACGCATACACCCATACACACACATCATACACACA CATACACCACACACACCACACACGCACACCACACACATATACACACATAC ACCCATGCACACACATCATACACACACAAACCACACATACCACACACATA CACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	455	c.32 others(466): Show c.3233_*3234insGTGGTGTATGTGTGTGGTATGTGTGGTTTGTGTG TGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGGTGTGCG TGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTATGGGTGT ATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATGTGTGTG TATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGTGTGGT GTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGTGTGT GTGCATGTGTGGTGTGTGTGGTGTGTGTGTGTGGTGTGTGTGTGTATGAT GTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGCATGTGTGGT GTGTGTGGTGTGTGTGTGTATGGGTGTGTGCGTATATATGTGTGTGGTGT GTGTGTGTATGATGTGTGTGT	GOLT1A	ENSG00000174567.8	transcript	ENST00000308302.4	protein_coding		2938		chr1	TogoVar
GOLT1A_chr1_204193163_204218988	204195224	T T	TACACACA others(448): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACACCACACATGCACACCACACACATATAC ACACATACACCCATACACACACATCATACACACACACACCACACACATAC ACCACACACACCACACATGCACACACACCACACACATATATACGCATACA CCCATACACACATCATACACACACCACACACACCACACATGCACACCACA CACATACACGCATACACCCATACACACACATCATACACACACACACCACA CACACCACACACATATACGCATACACCCATACACACACATCATACACACA CATACACCACACACACCACACACGCACACCACACACATATACACACATAC ACCCATGCACACACATCATACACACACAAACCACACATACCACACACATA CACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(330): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(245): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0002g0096 a0001c0001t0002g0221 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0004g0145 a0001c0002t0001g0034 a0001c0002t0001g0055 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0185 a0001c0002t0001g0196 a0001c0002t0001g0209 a0001c0002t0001g0215 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0314 a0001c0003t0001g0004 a0001c0003t0001g0138 a0001c0003t0001g0143 a0001c0004t0001g0255 a0001c0005t0001g0101	333	414	0.8044	455	c.32 others(466): Show c.3233_*3234insGTGGTGTATGTGTGTGGTATGTGTGGTTTGTGTG TGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGGTGTGCG TGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTATGGGTGT ATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATGTGTGTG TATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGTGTGGT GTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGTGTGT GTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTATGAT GTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGCATGTGTGGT GTGTGTGGTGTGTGTGTGTATGGGTGTGTGCGTATATATGTGTGTGGTGT GTGTGTGTATGATGTGTGTGT	GOLT1A	ENSG00000174567.8	transcript	ENST00000308302.4	protein_coding		2938		chr1	TogoVar
GOLT1A_chr1_204193163_204218988	204195224	T T	TACACACA others(448): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACACCACACATGCACACCACACACATATAC ACACATACACCCATACACACACATCATACACACACACACCACACACATAC ACCACACACACCACACATGCACACACACCACACACATATATACGCATACA CCCATACACACATCATACACACACCACACACACCACACATGCACACCACA CACATACACGCATACACCCATACACACACATCATACACACACACACCACA CACACCACACACATATACGCATACACCCATACACACACATCATACACACA CATACACCACACACACCACACACGCACACCACACACATATACACACATAC ACCCATGCACACACATCATACACACACAAAGCACACATACCACACACATA CACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0176 a0001c0001t0006g0176	1	414	0.0024	455	c.32 others(466): Show c.3233_*3234insGTGGTGTATGTGTGTGGTATGTGTGCTTTGTGTG TGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGGTGTGCG TGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTATGGGTGT ATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATGTGTGTG TATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGTGTGGT GTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGTGTGT GTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTATGAT GTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGCATGTGTGGT GTGTGTGGTGTGTGTGTGTATGGGTGTGTGCGTATATATGTGTGTGGTGT GTGTGTGTATGATGTGTGTGT	GOLT1A	ENSG00000174567.8	transcript	ENST00000308302.4	protein_coding		2938		chr1	TogoVar
GOLT1A_chr1_204193163_204218988	204195224	T T	TACACACA others(448): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACACCACACATGCACACCACACACATATAC ACACATACACCCATACACACACATCATACACACACACACCACACACATAC ACCACACACACCACACATGCACACACACCACACACATATATACGCATACA CCCATACACACATCATACACACACCACACACAGCACACATGCACACCACA CACATACACGCATACACCCATACACACACATCATACACACACACACCACA CACACCACACACATATACGCATACACCCATACACACACATCATACACACA CATACACCACACACACCACACACGCACACCACACACATATACACACATAC ACCCATGCACACACATCATACACACACAAACCACACATACCACACACATA CACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0195 a0001c0006t0002g0195	1	414	0.0024	455	c.32 others(466): Show c.3233_*3234insGTGGTGTATGTGTGTGGTATGTGTGGTTTGTGTG TGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGGTGTGCG TGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTATGGGTGT ATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATGTGTGTG TATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGCTGTGTGTGGT GTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGTGTGT GTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTATGAT GTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGCATGTGTGGT GTGTGTGGTGTGTGTGTGTATGGGTGTGTGCGTATATATGTGTGTGGTGT GTGTGTGTATGATGTGTGTGT	GOLT1A	ENSG00000174567.8	transcript	ENST00000308302.4	protein_coding		2938		chr1	TogoVar
GOLT1A_chr1_204193163_204218988	204195224	T T	TACACACA others(448): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACACCACACATGCACACCACACACATATAC ACACATACACCCATACACACACATCATACACACACACACCACACACATAC ACCACACACACCACACATGCACACACACCACACACATATATACGCATACA CCCATACACACATCATACACACACCACTCACACCACACATGCACACCACA CACATACACGCATACACCCATACACACACATCATACACACACACACCACA CACACCACACACATATACGCATACACCCATACACACACATCATACACACA CATACACCACACACACCACACACGCACACCACACACATATACACACATAC ACCCATGCACACACATCATACACACACAAACCACACATACCACACACATA CACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	414	0.0024	455	c.32 others(466): Show c.3233_*3234insGTGGTGTATGTGTGTGGTATGTGTGGTTTGTGTG TGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGGTGTGCG TGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTATGGGTGT ATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATGTGTGTG TATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGAGTGGT GTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGTGTGT GTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTATGAT GTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGCATGTGTGGT GTGTGTGGTGTGTGTGTGTATGGGTGTGTGCGTATATATGTGTGTGGTGT GTGTGTGTATGATGTGTGTGT	GOLT1A	ENSG00000174567.8	transcript	ENST00000308302.4	protein_coding		2938		chr1	TogoVar
GPATCH2_chr1_217421992_217636090	217524869	G G	GGGAGAGG others(448): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAGGGAGA GGGAGA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	188	0.0053	455	c.109 others(474): Show c.1099-9981_1099-9980insTCTCCCTCTCCCTCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTC TCCCTCTCCCTCTCCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(448): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT CCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCAC CTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCC CTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCTTCCCCA TCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTC CCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCAC CTTCCCTGTCCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCC CCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTC CCCCTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp1 HG02818.hp1 others(1): Show HG02615.hp2 HG02630.hp1 HG02818.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0288 others(1): Show a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0288 a0001c0001t0004g0289	4	290	0.0138	455	c.972 others(470): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCAC CTCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACC TTCCCCTCCTTCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCC TCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTC CCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCC CCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCTTTCCCCCTCC CCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTT CCCTCCTTCCCCCTTCCCCCTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAA others(448): Show ATATATAAATATATATATTTATATTTATTTATATATATATAAATATATAT ATTTATATATATATAAATAAATATAAATATATATATTTATATGTATATAT ATAAATATATATATTTATATATATATATATAAATATATATATTTATATAT ATATATTTTATACATATAAATATATATTATAAATATATATTTATACATAT AAATATATATTATAAATATATATATTTATATATAGAAATAAATATAAATA TATATATTTATATATATAAATATATATATTTATATATATAAATATATATA TTTATATATATAAATATATATATTTATATTTATTTCTATATATAAATATA TATATTTATATATATAAATATATATTTATATATATAAATATATATATTTA TATTTATAAATATATATATTTATATATATTTATATTTATATATATTTATA TATATT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0055 a0001c0002t0021g0055	1	208	0.0048	455	c.-97 others(472): Show c.-97-2616_-97-2615insAATATATATATTTATATTTATTTATATA TATATAAATATATATATTTATATATATATAAATAAATATAAATATATATA TTTATATGTATATATATAAATATATATATTTATATATATATATATAAATA TATATATTTATATATATATATTTTATACATATAAATATATATTATAAATA TATATTTATACATATAAATATATATTATAAATATATATATTTATATATAG AAATAAATATAAATATATATATTTATATATATAAATATATATATTTATAT ATATAAATATATATATTTATATATATAAATATATATATTTATATTTATTT CTATATATAAATATATATATTTATATATATAAATATATATTTATATATAT AAATATATATATTTATATTTATAAATATATATATTTATATATATTTATAT TTATATATATTTATATATATTTATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(448): Show TAATATATATACGGAATATATATACGGAATGTATATATACGGAATATATA TACGGAATGTATATATACGGAATGTATATATATGGAATATATATATATGG AATGTATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATGGAATATATAT ATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0017 a0003c0007t0017	a0003c0007t0017g0144 a0003c0007t0017g0144	1	323	0.0031	455	c.-21 others(466): Show c.-2147_-2146insAATATATATACGGAATATATATACGGAATGTATA TATACGGAATATATATACGGAATGTATATATACGGAATGTATATATATGG AATATATATATATGGAATGTATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATGGAATATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
INSR_chr19_7107265_7299414	7153367	C C	CCACACAC others(448): Show CCACACACACCACACACCACACACACCAAACACACCATACATGCACCACA CACACACCACATGCACACCTCACACACCATACCACACACCACACACACCA CACAAATCACACACATACTACACACACCCACGCCACACACCACACACACA CCACACACGCCACACAACGGACCACACATACACCACACACCACAAACACA ACCACACACACACTATACACACACACCACACACACCACACAACAGACCAC ACATACACACACCACACACCACAAACACACACCATACACACACACCACAC ATACCACACACACCACACACACAACCACACACACACACCACACACACAAC ACAAAACAGACCACACATACACACACCACACATACCACACACACACCACA CATACCACACACACACCACACACACAACCACACACACCACACCATACACA CAACCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00621.hp1 others(4): Show HG00408.hp1 HG00423.hp2 HG00621.hp1 HG02129.hp2 NA18942.hp2 NA18960.hp1 NA18980.hp2	a0001 a0001	a0001c0015 a0001c0019 a0001c0044 others(2): Show a0001c0015 a0001c0019 a0001c0044 a0001c0047 a0001c0052	a0001c0015t0001 a0001c0015t0029 a0001c0015t0092 others(4): Show a0001c0015t0001 a0001c0015t0029 a0001c0015t0092 a0001c0019t0001 a0001c0044t0055 a0001c0047t0158 a0001c0052t0014	a0001c0015t0001g0194 a0001c0015t0029g0245 a0001c0015t0092g0249 others(4): Show a0001c0015t0001g0194 a0001c0015t0029g0245 a0001c0015t0092g0249 a0001c0019t0001g0177 a0001c0044t0055g0012 a0001c0047t0158g0288 a0001c0052t0014g0219	7	300	0.0233	455	c.203 others(472): Show c.2030-441_2030-440insTGGTTGTGTGTATGGTGTGGTGTGTGTG GTTGTGTGTGTGGTGTGTGTGTGGTATGTGTGGTGTGTGTGTGGTATGTG TGGTGTGTGTATGTGTGGTCTGTTTTGTGTTGTGTGTGTGGTGTGTGTGT GTGGTTGTGTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGT GTGTTTGTGGTGTGTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTG TGGTGTGTGTGTATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTA TGTGTGGTCCGTTGTGTGGCGTGTGTGGTGTGTGTGTGGTGTGTGGCGTG GGTGTGTGTAGTATGTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTAT GGTGTGTGAGGTGTGCATGTGGTGTGTGTGTGGTGCATGTATGGTGTGTT TGGTGTGTGTGGTGTGTGGTGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7153367	C C	CCACACAC others(448): Show CCACACACACCACACACCACACACACCAAACACACCATACATGCACCACA CACACACCACATGCACACCTCACACACCATACCACACACCACACACACCA CACAAATCACACACATACTACACACACCCACGCCACACACCACACACACA CCACACACGCCACACAACGGACCACACATACACCACACACCACAAACACA ACCACACACACACTATACACACACACCACACACACCACACAACAGACCAC ACATACACACACCACACACCACAAACACACACCATACACACACACCACAC ATACCACACACACCACACACACAACCACACACACACACCACACACACAAC ACACAACAGACCACACATACACACACCACACATACCACACACACACCACA CATACCACACACACACCACACACACAACCACACACACCACACCATACACA CAACCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01934.hp2 HG02109.hp1 others(15): Show HG01109.hp1 HG01934.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02723.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp2 HG06807.hp1 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0011 a0001c0014 a0001c0027 a0001c0034 a0006c0057	a0001c0001t0041 a0001c0001t0090 a0001c0001t0091 others(15): Show a0001c0001t0041 a0001c0001t0090 a0001c0001t0091 a0001c0002t0016 a0001c0002t0153 a0001c0003t0054 a0001c0003t0073 a0001c0003t0133 a0001c0004t0035 a0001c0005t0098 a0001c0005t0107 a0001c0009t0004 a0001c0009t0012 a0001c0011t0147 a0001c0014t0127 a0001c0027t0053 a0001c0034t0093 a0006c0057t0004	a0001c0001t0041g0025 a0001c0001t0090g0147 a0001c0001t0091g0143 others(15): Show a0001c0001t0041g0025 a0001c0001t0090g0147 a0001c0001t0091g0143 a0001c0002t0016g0105 a0001c0002t0153g0102 a0001c0003t0054g0039 a0001c0003t0073g0083 a0001c0003t0133g0221 a0001c0004t0035g0151 a0001c0005t0098g0109 a0001c0005t0107g0111 a0001c0009t0004g0191 a0001c0009t0012g0042 a0001c0011t0147g0152 a0001c0014t0127g0117 a0001c0027t0053g0044 a0001c0034t0093g0162 a0006c0057t0004g0100	18	300	0.0600	455	c.203 others(472): Show c.2030-441_2030-440insTGGTTGTGTGTATGGTGTGGTGTGTGTG GTTGTGTGTGTGGTGTGTGTGTGGTATGTGTGGTGTGTGTGTGGTATGTG TGGTGTGTGTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGT GTGGTTGTGTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGT GTGTTTGTGGTGTGTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTG TGGTGTGTGTGTATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTA TGTGTGGTCCGTTGTGTGGCGTGTGTGGTGTGTGTGTGGTGTGTGGCGTG GGTGTGTGTAGTATGTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTAT GGTGTGTGAGGTGTGCATGTGGTGTGTGTGTGGTGCATGTATGGTGTGTT TGGTGTGTGTGGTGTGTGGTGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7153367	C C	CCACACAC others(448): Show CCACACACACCACACACCACACACACCAAACACACCATACATGCACCACA CACACACCACATGCACACCTCACACACCATACCACACACCACACACACCA CACAAATCACACACATACTACACACACCCACGCCACACACCACACACACA CCACACACGCCACACAACGGACCACACATACACCACACACCACAAACACA ACCACACACACACTATACACACACACCACACACACCACACAACAGACCAC ACATACACACACCACACACCACACACACACACCATACACACACACCACAC ATACCACACACACCACACACACAACCACACACACACACCACACACACAAC ACACAACAGACCACACATACACACACCACACATACCACACACACACCACA CATACCACACACACACCACACACACAACCACACACACCACACCATACACA CAACCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp1 HG03209.hp2 others(1): Show HG02615.hp2 HG02622.hp1 HG03209.hp2 HG03471.hp2	a0001 a0001	a0001c0009 a0001c0010 a0001c0012 others(1): Show a0001c0009 a0001c0010 a0001c0012 a0001c0013	a0001c0009t0096 a0001c0010t0140 a0001c0012t0141 others(1): Show a0001c0009t0096 a0001c0010t0140 a0001c0012t0141 a0001c0013t0125	a0001c0009t0096g0110 a0001c0010t0140g0146 a0001c0012t0141g0096 others(1): Show a0001c0009t0096g0110 a0001c0010t0140g0146 a0001c0012t0141g0096 a0001c0013t0125g0192	4	300	0.0133	455	c.203 others(472): Show c.2030-441_2030-440insTGGTTGTGTGTATGGTGTGGTGTGTGTG GTTGTGTGTGTGGTGTGTGTGTGGTATGTGTGGTGTGTGTGTGGTATGTG TGGTGTGTGTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGT GTGGTTGTGTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGT GTGTGTGTGGTGTGTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTG TGGTGTGTGTGTATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTA TGTGTGGTCCGTTGTGTGGCGTGTGTGGTGTGTGTGTGGTGTGTGGCGTG GGTGTGTGTAGTATGTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTAT GGTGTGTGAGGTGTGCATGTGGTGTGTGTGTGGTGCATGTATGGTGTGTT TGGTGTGTGTGGTGTGTGGTGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(448): Show TAAGAAAAGAAAAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA AGAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0139 a0002c0003t0001g0139	1	308	0.0033	455	c.127 others(474): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTCTTCTCTTCTCTTCTCTTCTCT TCTCTTCTCTTCTCTTCTTTTCTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KCNK2_chr1_215077737_215242090	215209572	T T	TAGATATT others(448): Show TAGATATTATATATAAAATATATAAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATAAAATATACATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATAAAATATATATTATATAAAATATAT ATTATATATAAAATATATAATATATATAAAATATATACTATATATAAAAT ATATACTATATATAAAATATATACTATATATAAAATATATACTATATATA AAATATATACTATATATAAAATATATATTATATATAAAATATATACTATA TATAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02056.hp1 HG00597.hp2 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0032 a0001c0001t0002 a0001c0001t0032	a0001c0001t0002g0220 a0001c0001t0032g0221 a0001c0001t0002g0220 a0001c0001t0032g0221	2	260	0.0077	455	c.963 others(474): Show c.963+14481_963+14482insGATATTATATATAAAATATATAAAAT AGATATATATAAAATATATAAAATAGATATTATATATAAAATATATATAA TATATATATAAAATAGATATTATATATAAAATATATATTATATATTATAT AAAATATATATTATATATTATATAATATATAATATATATTATATATATTA TATATTATATATTAAATATATATTATATATATAAAATATACATAAAATAT ATATTATATAAAATATATATAAAATATATATTATATAAAATATATATAAA ATATATATTATATAAAATATATATTATATATAAAATATATAATATATATA AAATATATACTATATATAAAATATATACTATATATAAAATATATACTATA TATAAAATATATACTATATATAAAATATATACTATATATAAAATATATAT TATATATAAAATATATACTATATATAAAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209572	T T	TAGATATT others(448): Show TAGATATTATATATAAAATATATAAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATAAAATATATATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATAAAATATATATTATATAAAATATAT ACTATATATAAAATATATACTATATATAAAATATATACTATATATAAAAT ATATACTATATATAAAATATATACTATATATAAAATATATACTATATATA AAATATATACTATATATAAAATATATATTATATATAAAATATATACTATA TATAAA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	260	0.0039	455	c.963 others(474): Show c.963+14481_963+14482insGATATTATATATAAAATATATAAAAT AGATATATATAAAATATATAAAATAGATATTATATATAAAATATATATAA TATATATATAAAATAGATATTATATATAAAATATATATTATATATTATAT AAAATATATATTATATATTATATAATATATAATATATATTATATATATTA TATATTATATATTAAATATATATTATATATATAAAATATATATAAAATAT ATATTATATAAAATATATATAAAATATATATTATATAAAATATATATAAA ATATATATTATATAAAATATATACTATATATAAAATATATACTATATATA AAATATATACTATATATAAAATATATACTATATATAAAATATATACTATA TATAAAATATATACTATATATAAAATATATACTATATATAAAATATATAT TATATATAAAATATATACTATATATAAAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209572	T T	TAGATATT others(448): Show TAGATATTATATATAAAATATATAAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATAAAATATATATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATAAAATATATATTATATAAAATATAT ATTATATATAAAATATATAATATATATAAAATATATACTATATATAAAAT ATATACTATATATAAAATATATACTATATATAAAATATATACTATATATA AAATATATACTATATATAAAATATATATTATATATAAAATATATACTATA TATAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0037 a0001c0001t0016g0037	1	260	0.0039	455	c.963 others(474): Show c.963+14481_963+14482insGATATTATATATAAAATATATAAAAT AGATATATATAAAATATATAAAATAGATATTATATATAAAATATATATAA TATATATATAAAATAGATATTATATATAAAATATATATTATATATTATAT AAAATATATATTATATATTATATAATATATAATATATATTATATATATTA TATATTATATATTAAATATATATTATATATATAAAATATATATAAAATAT ATATTATATAAAATATATATAAAATATATATTATATAAAATATATATAAA ATATATATTATATAAAATATATATTATATATAAAATATATAATATATATA AAATATATACTATATATAAAATATATACTATATATAAAATATATACTATA TATAAAATATATACTATATATAAAATATATACTATATATAAAATATATAT TATATATAAAATATATACTATATATAAAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209590	T T	TATATAAA others(448): Show TATATAAAATAGATATATATAAAATATATAAAATAGATATTATATATAAA ATATATATAATATATATATAAAATAGATATTATATATAAAATATATATTA TATATTATATAAAATATATATTATATATTATATAATATATAATATATATT ATATATATTATATATTATATATTAAATATATATTATATATATAAAATATA TATAAAATATATATTATATAAAATATATATAAAATATATATTATATAAAA TATATATAAAATATATATTATATAAAATATATATTATATATAAAATATAT AATATATATAAAATATATACTATATATAAAATATATAATATATATAAAAT ATATACTATATATAAAATATATACTATATATAAAATATATACTATATATA AAATATATACTATATATAAAATATATACTATATATAAAATATATACTATA TATAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0199 a0001c0001t0004g0199	1	260	0.0039	455	c.963 others(474): Show c.963+14503_963+14504insAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATAAAATATATATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATAAAATATATATTATATAAAATATAT ATTATATATAAAATATATAATATATATAAAATATATACTATATATAAAAT ATATAATATATATAAAATATATACTATATATAAAATATATACTATATATA AAATATATACTATATATAAAATATATACTATATATAAAATATATACTATA TATAAAATATATACTATATATAAAATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209590	T T	TATATAAA others(448): Show TATATAAAATAGATATATATAAAATATATAAAATAGATATTATATATAAA ATATATATAATATATATATAAAATAGATATTATATATAAAATATATATTA TATATTATATAAAATATATATTATATATTATATAATATATAATATATATT ATATATATTATATATTATATATTAAATATATATTATATATATAAAATATA TATAAAATATATATTATATAAAATATATATAAAATATATATTATATAAAA TATATATAAAATATATATTATATAAAATATATATTATATATAAAATATAT AATATATATAAAATATATACTATATATAAAATATATAATATATATAAAAT ATATACTATATATAAAATATATACTATATATAAAATATATACTATATATA AAATATATACTATATATAAAATATATATTATATATAAAATATATACTATA TATAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18977.hp2 HG02735.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0195 a0001c0001t0006g0203 a0001c0001t0001g0195 a0001c0001t0006g0203	2	260	0.0077	455	c.963 others(474): Show c.963+14503_963+14504insAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATAAAATATATATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATAAAATATATATTATATAAAATATAT ATTATATATAAAATATATAATATATATAAAATATATACTATATATAAAAT ATATAATATATATAAAATATATACTATATATAAAATATATACTATATATA AAATATATACTATATATAAAATATATACTATATATAAAATATATATTATA TATAAAATATATACTATATATAAAATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF1A_chr2_240708767_240825219	240812899	G G	GGGATCCG others(448): Show GGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGAT CCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCTC AGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATCC GCCTTCACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAAG ATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGGGGATCTGCCTTCAC CTCGGGGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCGC CTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCAGG GATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCA CCTCAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0036 a0002c0010t0036	a0002c0010t0036g0327 a0002c0010t0036g0327	1	330	0.0030	455	c.-61 others(472): Show c.-61+7222_-61+7223insTTGAGGTGAAGGCGGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCGGATCCCTGAGGTGAAGGCTGATCCCC GAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCG GATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGTG AAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCAG AGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGA TCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAGG TGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGATC CTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAG GCGGATCCCCGAGGTGAAGGCGGATCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812899	G G	GGGATCCG others(448): Show GGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGAT CCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCTC AGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATCC GCCTTCACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAAG ATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGGGGATCTGCCTTCAC CTCGGGGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCGC CTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGG GATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCA CCTCAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00544.hp2 others(19): Show HG00438.hp1 HG00544.hp1 HG00544.hp2 HG02015.hp1 HG02129.hp1 HG02135.hp1 HG02155.hp2 HG03017.hp1 HG03491.hp1 HG03492.hp1 HG04115.hp1 NA18612.hp2 NA18747.hp1 NA18960.hp1 NA18969.hp1 NA19056.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0027 a0001c0033 a0001c0048 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0019 a0001c0001t0027 a0001c0001t0034 a0001c0001t0039 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0027t0011 a0001c0033t0002 a0001c0048t0004 a0002c0002t0001	a0001c0001t0001g0316 a0001c0001t0001g0328 a0001c0001t0002g0303 others(19): Show a0001c0001t0001g0316 a0001c0001t0001g0328 a0001c0001t0002g0303 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0004g0306 a0001c0001t0006g0305 a0001c0001t0006g0309 a0001c0001t0011g0315 a0001c0001t0019g0307 a0001c0001t0019g0308 a0001c0001t0027g0317 a0001c0001t0034g0329 a0001c0001t0039g0297 a0001c0003t0002g0320 a0001c0003t0003g0300 a0001c0004t0001g0325 a0001c0027t0011g0322 a0001c0033t0002g0314 a0001c0048t0004g0318 a0002c0002t0001g0301 a0002c0002t0001g0302	22	330	0.0667	455	c.-61 others(472): Show c.-61+7222_-61+7223insTTGAGGTGAAGGCGGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCCC GAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCG GATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGTG AAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCAG AGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGA TCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAGG TGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGATC CTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAG GCGGATCCCCGAGGTGAAGGCGGATCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812905	C C	CGCCTTCA others(448): Show CGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCTGCCTTCACCTC AAGGATCCGCCTTCACCTCAAGGATCCACCTTCACCTCAGGGATCAGCCT TCACCTCGAGATCCACCTTCACCTCAGGCAGGGATCAGCCTTCACCTCAG GGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGATCTGCCTTCA CCTCTGGGTCCGCCTTCACCTCAAGATCCACCTTCACCTCAGGGATCAGC CTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCAGCCATCACTCGGGG ATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCAC CTCGGGGATCAGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCG CCTTCACCTCGGGGATCCGCCTTCACCTCAAGGATCCGCCTTCACCTCGG GGATCA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0326 a0001c0001t0012g0326	1	330	0.0030	455	c.-61 others(472): Show c.-61+7216_-61+7217insTGATCCCCGAGGTGAAGGCGGATCCTTG AGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGG ATCCCCGAGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGTG AAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGTGATGGCTGATCCCC GAGGTGAAGGCAGATCCCCGAGGTGAAGGCTGATCCCTGAGGTGAAGGTG GATCTTGAGGTGAAGGCGGACCCAGAGGTGAAGGCAGATCCCGAGGTGAA GGCGGATCCCCGAGGTGAAGGCAGATCCCTGAGGTGAAGGCTGATCCCTG CCTGAGGTGAAGGTGGATCTCGAGGTGAAGGCTGATCCCTGAGGTGAAGG TGGATCCTTGAGGTGAAGGCGGATCCTTGAGGTGAAGGCAGATCCCCGAG GTGAAGGCGGATCCCCGAGGTGAAGGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KISS1_chr1_204185341_204201491	204195224	T T	TACACACA others(448): Show TACACACACATCATACACAAACACACCACACACATATATACGCACACACC CATACACACACACACCACACACACCACACATGCACACCACACACATATAC ACACATACACCCATACACACACATCATACACACACACACCACACACATAC ACCACACACACCACACATGCACACACACCACACACATATATACGCATACA CCCATACACACATCATACACACACCACACACACCACACATGCACACCACA CACATACACGCATACACCCATACACACACATCATACACACACACACCACA CACACCACACACATATACGCATACACCCATACACACACATCATACACACA CATACACCACACACACCACACACGCACACCACACACATATACACACATAC ACCCATGCACACACATCATACACACACAAACCACACATACCACACACATA CACCAC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	400	0.0025	455	c.-39 others(472): Show c.-39+1151_-39+1152insGTGGTGTATGTGTGTGGTATGTGTGGTT TGTGTGTGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGG TGTGCGTGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTAT GGGTGTATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATG TGTGTGTATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTG TGTGGTGTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTG GTGTGTGTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTG TATGATGTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGCATG TGTGGTGTGTGTGGTGTGTGTGTGTATGGGTGTGTGCGTATATATGTGTG TGGTGTGTTTGTGTATGATGTGTGTGT	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding	1/2			chr1	TogoVar
KISS1_chr1_204185341_204201491	204195224	T T	TACACACA others(448): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACACCACACATGCACACCACACACATATAC ACACATACACCCATACACACACATCATACACACACACACCACACACATAC ACCACACACACCACACATGCACACACACCACACACATATATACGCATACA CCCATACACACATCATACACACACCACACACACCACACATGCACACCACA CACATACACGCATACACCCATACACACACATCATACACACACACACCACA CACACCACACACATATACGCATACACCCATACACACACATCATACACACA CATACACCACACACACCACACACGCACACCACACACATATACACACATAC ACCCATGCACACACATCATACACACACAAACCACACATACCACACACATA CACCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(321): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0014 a0002c0002t0017 a0002c0002t0022 a0003c0003t0011 a0003c0003t0016 a0003c0003t0027 a0003c0003t0028 a0004c0004t0006 a0004c0004t0007 a0004c0004t0011 a0006c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(79): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0003g0004 a0001c0001t0003g0017 a0001c0001t0003g0035 a0001c0001t0003g0040 a0001c0001t0003g0085 a0001c0001t0015g0110 a0001c0001t0015g0114 a0001c0001t0024g0107 a0001c0001t0025g0123 a0001c0001t0026g0127 a0002c0002t0002g0001 a0002c0002t0002g0008 a0002c0002t0002g0020 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0032 a0002c0002t0002g0036 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0059 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0004g0009 a0002c0002t0004g0013 a0002c0002t0004g0024 a0002c0002t0004g0099 a0002c0002t0004g0101 a0002c0002t0004g0104 a0002c0002t0004g0115 a0002c0002t0004g0122 a0002c0002t0006g0021 a0002c0002t0006g0055 a0002c0002t0007g0072 a0002c0002t0008g0015 a0002c0002t0009g0073 a0002c0002t0009g0074 a0002c0002t0014g0058 a0002c0002t0014g0076 a0002c0002t0017g0116 a0002c0002t0022g0096 a0003c0003t0011g0025 a0003c0003t0016g0103 a0003c0003t0016g0112 a0003c0003t0027g0113 a0003c0003t0028g0108 a0004c0004t0006g0037 a0004c0004t0007g0011 a0004c0004t0007g0057 a0004c0004t0011g0131 a0006c0006t0001g0018	324	400	0.8100	455	c.-39 others(472): Show c.-39+1151_-39+1152insGTGGTGTATGTGTGTGGTATGTGTGGTT TGTGTGTGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGG TGTGCGTGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTAT GGGTGTATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATG TGTGTGTATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTG TGTGGTGTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTG GTGTGTGTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTG TATGATGTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGCATG TGTGGTGTGTGTGGTGTGTGTGTGTATGGGTGTGTGCGTATATATGTGTG TGGTGTGTGTGTGTATGATGTGTGTGT	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding	1/2			chr1	TogoVar
KISS1_chr1_204185341_204201491	204195224	T T	TACACACA others(448): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACACCACACATGCACACCACACACATATAC ACACATACACCCATACACACACATCATACACACACACACCACACACATAC ACCACACACACCACACATGCACACACACCACACACATATATACGCATACA CCCATACACACATCATACACACACCACACACACCACACATGCACACCACA CACATACACGCATACACCCATACACACACATCATACACACACACACCACA CACACCACACACATATACGCATACACCCATACACACACATCATACACACA CATACACCACACACACCACACACGCACACCACACACATATACACACATAC ACCCATGCACACACATCATACACACACAAAGCACACATACCACACACATA CACCAC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0068	1	400	0.0025	455	c.-39 others(472): Show c.-39+1151_-39+1152insGTGGTGTATGTGTGTGGTATGTGTGCTT TGTGTGTGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGG TGTGCGTGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTAT GGGTGTATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATG TGTGTGTATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTG TGTGGTGTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTG GTGTGTGTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTG TATGATGTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGCATG TGTGGTGTGTGTGGTGTGTGTGTGTATGGGTGTGTGCGTATATATGTGTG TGGTGTGTGTGTGTATGATGTGTGTGT	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding	1/2			chr1	TogoVar
KISS1_chr1_204185341_204201491	204195224	T T	TACACACA others(448): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACACCACACATGCACACCACACACATATAC ACACATACACCCATACACACACATCATACACACACACACCACACACATAC ACCACACACACCACACATGCACACACACCACACACATATATACGCATACA CCCATACACACATCATACACACACCACACACAGCACACATGCACACCACA CACATACACGCATACACCCATACACACACATCATACACACACACACCACA CACACCACACACATATACGCATACACCCATACACACACATCATACACACA CATACACCACACACACCACACACGCACACCACACACATATACACACATAC ACCCATGCACACACATCATACACACACAAACCACACATACCACACACATA CACCAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0046 a0001c0001t0012g0046	1	400	0.0025	455	c.-39 others(472): Show c.-39+1151_-39+1152insGTGGTGTATGTGTGTGGTATGTGTGGTT TGTGTGTGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGG TGTGCGTGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTAT GGGTGTATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATG TGTGTGTATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGCTGTG TGTGGTGTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTG GTGTGTGTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTG TATGATGTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGCATG TGTGGTGTGTGTGGTGTGTGTGTGTATGGGTGTGTGCGTATATATGTGTG TGGTGTGTGTGTGTATGATGTGTGTGT	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding	1/2			chr1	TogoVar
KISS1_chr1_204185341_204201491	204195224	T T	TACACACA others(448): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACACCACACATGCACACCACACACATATAC ACACATACACCCATACACACACATCATACACACACACACCACACACATAC ACCACACACACCACACATGCACACACACCACACACATATATACGCATACA CCCATACACACATCATACACACACCACTCACACCACACATGCACACCACA CACATACACGCATACACCCATACACACACATCATACACACACACACCACA CACACCACACACATATACGCATACACCCATACACACACATCATACACACA CATACACCACACACACCACACACGCACACCACACACATATACACACATAC ACCCATGCACACACATCATACACACACAAACCACACATACCACACACATA CACCAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0069 a0002c0002t0002g0069	1	400	0.0025	455	c.-39 others(472): Show c.-39+1151_-39+1152insGTGGTGTATGTGTGTGGTATGTGTGGTT TGTGTGTGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGG TGTGCGTGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTAT GGGTGTATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATG TGTGTGTATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTG AGTGGTGTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTG GTGTGTGTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTG TATGATGTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGCATG TGTGGTGTGTGTGGTGTGTGTGTGTATGGGTGTGTGCGTATATATGTGTG TGGTGTGTGTGTGTATGATGTGTGTGT	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding	1/2			chr1	TogoVar
LHPP_chr10_124456823_124619141	124471525	T T	TTTTTATA others(448): Show TTTTTATATATTTATATATTTATATATATATTTATATATATTTATGTATA TTTATATATATATTTATATATATTTATGTATATTTATATATATATTTATA TATATTTATGTATATTTATATATATTTATATATTTATGTATATATTTATA TATATTTATATATTTATGTATAAATTTATATATATTTATATGTATTTATA TATATATTTATATGTATTTTTATATATTTATATATTTATATGTATTTATA CATATATATTTATATGTATTTATACATATATATTTATATGTATTTATATA TATTTATATATATTTTTTATGTATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATTTATATATATATTTATATATATATTTATATATATATTTATATATATAT TATTTA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0096 a0001c0001t0014g0096	1	260	0.0039	455	c.125 others(472): Show c.125+9539_125+9540insTTTATATATTTATATATTTATATATATA TTTATATATATTTATGTATATTTATATATATATTTATATATATTTATGTA TATTTATATATATATTTATATATATTTATGTATATTTATATATATTTATA TATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTTATA TATATTTATATGTATTTATATATATATTTATATGTATTTTTATATATTTA TATATTTATATGTATTTATACATATATATTTATATGTATTTATACATATA TATTTATATGTATTTATATATATTTATATATATTTTTTATGTATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATATTTATATATATATTTATATATATATTTAT ATATATATTTATATATATATTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC23_chr12_6899822_6919229	6909301	T T	TATATATT others(448): Show TATATATTATATCTAATTATATATAATATATATATTATTATATATAATAA TATATATACAATATATAATTATATATAATATATAATTATATATAATATAT AATTATATATTATTATATAATATATAATTATATAATATATAATTATATAT TATATAATAATATATAATTATATAATATATAATTATATATTATATAAAAT ATGTAATTATTAATAATATATAATTATATATAATATATAATTATATATTA TATGATAATATATAATTATATATTATATATAATTATATATTATATAATAT ATAATTATATATAATATATAAATATATAATATATAAATATATATAATATA TAAATATATAATATATAAATATATATAATATATAATTATATATAATATAT AAATATATATAATAGTATATATTATATATAATATATAATAGTATATATTA TATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02300.hp2 NA18747.hp2 HG00741.hp2 HG02300.hp2 NA18747.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0185 a0004c0004t0005g0186 a0004c0004t0005g0188 a0004c0004t0005g0185 a0004c0004t0005g0186 a0004c0004t0005g0188	3	316	0.0095	455	c.622 others(470): Show c.622-583_622-582insTATATCTAATTATATATAATATATATATTA TTATATATAATAATATATATACAATATATAATTATATATAATATATAATT ATATATAATATATAATTATATATTATTATATAATATATAATTATATAATA TATAATTATATATTATATAATAATATATAATTATATAATATATAATTATA TATTATATAAAATATGTAATTATTAATAATATATAATTATATATAATATA TAATTATATATTATATGATAATATATAATTATATATTATATATAATTATA TATTATATAATATATAATTATATATAATATATAAATATATAATATATAAA TATATATAATATATAAATATATAATATATAAATATATATAATATATAATT ATATATAATATATAAATATATATAATAGTATATATTATATATAATATATA ATAGTATATATTATATATAATATAT	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC74A_chr14_76821408_76875304	76867188	A A	AGTGTGTG others(448): Show AGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGG GGTGTGTGGGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGGGGGGTGTGTG TTGGGGGGATGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTT GGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGT GTGTGTGTGGGTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGTGTGGTAGT GTGTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGG GGTGTGTGTGTGTGTGGTAGTGTGTGTGGGGTGTGTGGGTGTGTTGGGGG GTGGGGTGTGTGTGTGGGGGGGGTGTGTTGGGGGATGGGGTGTGTGTGTG GTAGTGTGGGGGGGTGTGTGTTTTGGGGGGGTGTGTGTGGTAGTGTGTGT GTGGGT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0358 a0003c0003t0001g0358	1	408	0.0025	455	c.130 others(472): Show c.1309-117_1309-116insTGTGTGGGTGTGTTGGGGGGTGGGGTGT GTGTGTGTGGGGGGTGTGTGTTGGGGGGATGGGGTGTGTGTGTGGTAGTG TGTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGGG GTGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGGG TGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTTGGGGGTGGG GTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGG GTGTGTGGGTGTGTTGGGGGGTGGGGTGTGTGTGTGGGGGGGGTGTGTTG GGGGATGGGGTGTGTGTGTGGTAGTGTGGGGGGGTGTGTGTTTTGGGGGG GTGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGGTGGGGTG TGTGTGTGTGTGGTAGTGTGTGTGGGG	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
MAN2B2_chr4_6570189_6628362	6579069	T T	TCACCAGC others(448): Show TCACCAGCACCACCACCACCATCACCACCACCATCACCATCACCAGCACC ACCACCACCATCACCATCACCAGCACCACCACCATCACCACCACCACCAC CACCACCACCATCACCACCACCACCCTTCACCACCATCACCACCACCACC ATCACCACCACCATCACCATCACCACCACCATCACCACCACCACCACCAT CACCACCACCACCACCACCACCATCACCATCACCACCACCATCACCATCA CCACCACCACCACTACCCTTCACCATCACCACCACCACCACCATCACCAT CACCACCACCATCCACCATCACCACCACCCTTCACCATCACCACCACCCT TCACCACCACAATGACCATCACTACCACTACCATCACCACCACCACCACG ATGACCATCACTACCACTACCATCACCACCACCACCACCATCACCATCAC CACCAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0023 a0023	a0023c0066 a0023c0066	a0023c0066t0028 a0023c0066t0028	a0023c0066t0028g0131 a0023c0066t0028g0131	1	362	0.0028	455	c.391 others(470): Show c.391+576_391+577insGCACCACCACCACCATCACCACCACCATCA CCATCACCAGCACCACCACCACCATCACCATCACCAGCACCACCACCATC ACCACCACCACCACCACCACCACCATCACCACCACCACCCTTCACCACCA TCACCACCACCACCATCACCACCACCATCACCATCACCACCACCATCACC ACCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCAC CACCATCACCATCACCACCACCACCACTACCCTTCACCATCACCACCACC ACCACCATCACCATCACCACCACCATCCACCATCACCACCACCCTTCACC ATCACCACCACCCTTCACCACCACAATGACCATCACTACCACTACCATCA CCACCACCACCACGATGACCATCACTACCACTACCATCACCACCACCACC ACCATCACCATCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBD3L3_chr19_7051207_7063676	7061827	G G	GAATATAA others(448): Show GAATATAATTATATAATATATAATTATATTATATATTATATAATTATAAT ATAATTATATAATATAATTATATTATATATAATTATATTAAACATATTAT ATAATATATAATTATATTATATATTATATAATCTATAATTATATTATATA TTATATAATATATAATTATATTATAGATTATATAATATATAATTATGTTA TATATTATAATACATTTAATATAATTATATTATAGATTATAATCTATAAT ATAATTATATTAATAGTATTATAATATATAATATATTATATATAATTATA TTATAACTTATTATATATAATTATATTATAGATCATAATCTATAATATAA TTATATATAATATGTTATAATATATAATTATATTCTATATATAATTATAT ATAATATAATTATATTCTATATATAATATAATTATATATAATTATATTCT ATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	288	0.0035	455	c.-32 others(466): Show c.-3223_-3222insATATATAGAATATAATTATATATAATTATATTAT ATATAGAATATAATTATATTATATATAATTATATATAGAATATAATTATA TATTATAACATATTATATATAATTATATTATAGATTATGATCTATAATAT AATTATATATAATAAGTTATAATATAATTATATATAATATATTATATATT ATAATACTATTAATATAATTATATTATAGATTATAATCTATAATATAATT ATATTAAATGTATTATAATATATAACATAATTATATATTATATAATCTAT AATATAATTATATATTATATAATATATAATATAATTATAGATTATATAAT ATATAATATAATTATATATTATATAATATGTTTAATATAATTATATATAA TATAATTATATTATATAATTATATTATAATTATATAATATATAATATAAT TATATATTATATAATTATATT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3152		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061827	G G	GAATATAA others(448): Show GAATATAATTATATAATATATAATTATATTATATATTATATAATTATAAT ATAATTATATAATATAATTATATTATATATAATTATATTAAACATATTAT ATAATATATAATTATATTATATATTATATAATCTATAATTATATTATATA TTATATAATATATAATTATATTATATATTATATAATATATAATTATGTTA TATATTATAATACATTTAATATAATTATATTATAGATTATAATCTATAAT ATAATTATATTAATAGTATTATAATATATAATATATTATATATAATTATA TTATAACTTATTATATATAATTATATTATAGATCATAATCTATAATATAA TTATATATAATAAGTTATAATATATAATTATATTCTATATATAATTATAT ATAATATAATTATATTCTATATATAATATAATTATATATAATTATATTCT ATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18976.hp2 NA18983.hp1 NA19057.hp2 NA18976.hp2 NA18983.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	3	288	0.0104	455	c.-32 others(466): Show c.-3223_-3222insATATATAGAATATAATTATATATAATTATATTAT ATATAGAATATAATTATATTATATATAATTATATATAGAATATAATTATA TATTATAACTTATTATATATAATTATATTATAGATTATGATCTATAATAT AATTATATATAATAAGTTATAATATAATTATATATAATATATTATATATT ATAATACTATTAATATAATTATATTATAGATTATAATCTATAATATAATT ATATTAAATGTATTATAATATATAACATAATTATATATTATATAATATAT AATATAATTATATATTATATAATATATAATATAATTATAGATTATATAAT ATATAATATAATTATATATTATATAATATGTTTAATATAATTATATATAA TATAATTATATTATATAATTATATTATAATTATATAATATATAATATAAT TATATATTATATAATTATATT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3152		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061827	G G	GAATATAA others(448): Show GAATATAATTATATAATATATAATTATATTATATATTATATAATTATAAT ATAATTATATAATATAATTATATTATATATAATTATATTAAACATATTAT ATAATATATAATTATATTATATATTATATAATCTATAATTATATTATATA TTATATAATATATAATTATATTATATATTATATAATATATAATTATGTTA TATATTATAATACATTTAATATAATTATATTATAGATTATAATCTATAAT ATAATTATATTAATAGTATTATAATATATAATATATTATATATAATTATA TTATAACTTATTATATATAATTATATTATAGATCATAATCTATAATATAA TTATATATAATATGTTATAATATATAATTATATTCTATATATAATTATAT ATAATATAATTATATTCTATATATAATATAATTATATATAATTATATTCT ATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02015.hp2 HG02165.hp2 others(7): Show HG00597.hp1 HG02015.hp2 HG02165.hp2 NA18941.hp2 NA18950.hp2 NA18953.hp2 NA18957.hp1 NA18992.hp1 NA19057.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0019 a0001c0001t0002g0003 a0001c0001t0002g0019	10	288	0.0347	455	c.-32 others(466): Show c.-3223_-3222insATATATAGAATATAATTATATATAATTATATTAT ATATAGAATATAATTATATTATATATAATTATATATAGAATATAATTATA TATTATAACATATTATATATAATTATATTATAGATTATGATCTATAATAT AATTATATATAATAAGTTATAATATAATTATATATAATATATTATATATT ATAATACTATTAATATAATTATATTATAGATTATAATCTATAATATAATT ATATTAAATGTATTATAATATATAACATAATTATATATTATATAATATAT AATATAATTATATATTATATAATATATAATATAATTATAGATTATATAAT ATATAATATAATTATATATTATATAATATGTTTAATATAATTATATATAA TATAATTATATTATATAATTATATTATAATTATATAATATATAATATAAT TATATATTATATAATTATATT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3152		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061827	G G	GAATATAA others(448): Show GAATATAATTATATAATATATAATTATATTATATATTATATAATTATAAT ATAATTATATAATATAATTATATTATATATAATTATATTAAACATATTAT ATAATATATAATTATATTATATATTATATAATCTATAATTATATTATATA TTATATAATCTATAATTATATTATATATTATATAATATATAATTATGTTA TATATTATAATACATTTAATATAATTATATTATAGATTATAATCTATAAT ATAATTATATTAATAGTATTATAATATATAATATATTATATATAATTATA TTATAACTTATTATATATAATTATATTATAGATCATAATCTATAATATAA TTATATATAATATGTTATAATATATAATTATATTCTATATATAATTATAT ATAATATAATTATATTCTATATATAATATAATTATATATAATTATATTCT ATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG02129.hp2 HG02273.hp1 others(5): Show HG00609.hp1 HG02129.hp2 HG02273.hp1 HG02523.hp2 HG02683.hp2 HG03669.hp2 NA18970.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0006 a0001c0001t0002 a0002c0002t0006	a0001c0001t0002g0003 a0002c0002t0006g0046 a0001c0001t0002g0003 a0002c0002t0006g0046	8	288	0.0278	455	c.-32 others(466): Show c.-3223_-3222insATATATAGAATATAATTATATATAATTATATTAT ATATAGAATATAATTATATTATATATAATTATATATAGAATATAATTATA TATTATAACATATTATATATAATTATATTATAGATTATGATCTATAATAT AATTATATATAATAAGTTATAATATAATTATATATAATATATTATATATT ATAATACTATTAATATAATTATATTATAGATTATAATCTATAATATAATT ATATTAAATGTATTATAATATATAACATAATTATATATTATATAATATAT AATATAATTATAGATTATATAATATATAATATAATTATAGATTATATAAT ATATAATATAATTATATATTATATAATATGTTTAATATAATTATATATAA TATAATTATATTATATAATTATATTATAATTATATAATATATAATATAAT TATATATTATATAATTATATT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3152		chr19	TogoVar
MBP_chr18_76973833_77137783	77028596	C C	CGGGGCGG others(448): Show CGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGTGGG GGCTGACCCCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGCTGGCTGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTC CCGGAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03831.hp1 HG03704.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0045 a0001c0001t0008g0335 a0001c0001t0004g0045 a0001c0001t0008g0335	2	396	0.0051	455	c.140 others(474): Show c.140-11329_140-11328insATCCGGGAGGGAGGTGGGGGGGGTCA GCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCACC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTAGGGGGGGGTCAGCCCCCACGCCCGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCTGCCCGGCCAGCCGCCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(448): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGCCCC CCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGT GTGCCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCC ACGCCT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	292	0.0034	455	c.218 others(470): Show c.2189-97_2189-96insAGGCGTGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGG GGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGCC AGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCTAT GTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGG GGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGC CAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGA GGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGGGGGGC ACACTCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(448): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTG GCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGCCCCCC CCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGT GTGCCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCC ACGCCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG00741.hp1 others(1): Show HG00280.hp1 HG00735.hp2 HG00741.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0100 a0001c0001 a0001c0007 a0001c0100	a0001c0001t0001 a0001c0007t0001 a0001c0100t0001 a0001c0001t0001 a0001c0007t0001 a0001c0100t0001	a0001c0001t0001g0151 a0001c0001t0001g0207 a0001c0007t0001g0150 others(1): Show a0001c0001t0001g0151 a0001c0001t0001g0207 a0001c0007t0001g0150 a0001c0100t0001g0146	4	292	0.0137	455	c.218 others(470): Show c.2189-97_2189-96insAGGCGTGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGG GGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCG CCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCT ATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCG GGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGC CAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGA GGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGGGGGGC ACACTCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar

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