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
SLC44A3_chr1_94815357_94900246	94877129	T T	TAAAAAAA others(288): Show TAAAAAAAAGGTCGGGGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	300	0.0033	295	c.148 others(314): Show c.1482+9728_1482+9729insTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAGGTCGGGG	SLC44A3	ENSG00000143036.17	transcript	ENST00000271227.11	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8331445	A A	AAACACTT others(288): Show AAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTA AAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTT TAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATT TTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATA TTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAA TATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp2 HG01099.hp2 others(6): Show HG00323.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0088 a0001c0001t0002g0009 a0001c0001t0002g0028 others(3): Show a0001c0001t0001g0088 a0001c0001t0002g0009 a0001c0001t0002g0028 a0001c0001t0002g0096 a0001c0001t0002g0224 a0001c0003t0002g0023	9	13	0.6923	295	c.144 others(312): Show c.1443+511_1443+512insCACTTTTAAAAAATATTTTTAAAAAACA CTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAA CACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAA AACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAA AAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTT AAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTT TTAAAAAACACTTTTAA	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLCO3A1_chr15_91848708_92170903	92143382	T T	TATAAAAT others(288): Show TATAAAATATATATATATTATATAATATATATATAAAATATATATATATT ATATATAAAATATATATATTATATAATATATATATAAAATATATATATTA TATAATATATGTAATATTATATATATATATATATTATATATTATATATTA TATATATTATATATATTATATATAATATATATTATATATATTATATATAT TATATATTATATATAATATATTATATATAATATATATAATATATTATATA TAATATATATAATATATTATATATAATATATATAATATATATAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0147 a0001c0002t0002g0147	1	92	0.0109	295	c.151 others(314): Show c.1513-3601_1513-3600insTAAAATATATATATATTATATAATAT ATATATAAAATATATATATATTATATATAAAATATATATATTATATAATA TATATATAAAATATATATATTATATAATATATGTAATATTATATATATAT ATATATTATATATTATATATTATATATATTATATATATTATATATAATAT ATATTATATATATTATATATATTATATATTATATATAATATATTATATAT AATATATATAATATATTATATATAATATATATAATATATTATATATAATA TATATAATATATATAAAAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92143469	A A	ATATATAA others(288): Show ATATATAATATATAATATATATAATATATATAATATATAATATATATATT ATATAATATATATAATATATAATATATATATTATATATAATATATATAAT ATATAATATATATATTATATATAATATATATAATATATAATATATATAAT ATATATAATATATATAATATATATATTATATATAATATATATAATATATA TATTATATATAATATATATAATATATATAATATATAATATATATAAAATA TATATATTATATATATATATAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0181 a0001c0001t0038g0181	1	132	0.0076	295	c.151 others(314): Show c.1513-3515_1513-3514insTATATAATATATAATATATATAATAT ATATAATATATAATATATATATTATATAATATATATAATATATAATATAT ATATTATATATAATATATATAATATATAATATATATATTATATATAATAT ATATAATATATAATATATATAATATATATAATATATATAATATATATATT ATATATAATATATATAATATATATATTATATATAATATATATAATATATA TAATATATAATATATATAAAATATATATATTATATATATATATAAATATA TATATATATATATATATAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9			chr15	TogoVar
SNRNP70_chr19_49080451_49113604	49092919	T T	TTTGTTTT others(288): Show TTTGTTTTGTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTG TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCT GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	316	0.0032	295	c.265 others(312): Show c.265+2412_265+2413insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGG TTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGC CCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCTTGTTTTGTTCTT	SNRNP70	ENSG00000104852.15	transcript	ENST00000598441.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(288): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTG CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00738.hp2 others(13): Show HG00323.hp2 HG00438.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01175.hp2 HG01952.hp2 HG01981.hp1 HG02109.hp1 HG02273.hp1 HG02280.hp2 HG02630.hp2 HG02698.hp2 HG03688.hp2 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0124 others(11): Show a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0132 a0001c0002t0003g0150 a0001c0002t0003g0239 a0001c0002t0003g0240	16	144	0.1111	295	c.-13 others(312): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCT CCCAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7449221	C C	CCCTCCCT others(288): Show CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCC CTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTCCCTCCCTTCCGTACTTCCTCTCCCCTCCCTCCCTCTTTTCCTTTC TCTCCCCTCCATCCCGCCCTCCCTCCCTTCCTCTTTTCCCTCTCTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0077 a0001c0011t0015g0077	1	156	0.0064	295	c.548 others(314): Show c.548+52877_548+52878insTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCT CCCTCCCTCCCTTCCTCCCTCCCTTCCGTACTTCCTCTCCCCTCCCTCCC TCTTTTCCTTTCTCTCCCCTCCATCCCGCCCTCCCTCCCTTCCTCTTTTC CCTCTCTTCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724567	G G	GTGGTGTT others(288): Show GTGGTGTTGGTGATGGTGGTGATAGTGCTGGTGAGGATGGTGATGGTGGT GATGGTGGTGGTGATGGCAGTGATGATGGTGGAGGTGATGGTGGTAGTTA TGGTGATGATGGTGGTAGTGGTGATGGTGGTGGTGTTGGTGATGGTGGTG ATAGTGTTGGTGGGAATGGATGGTGGTAGTAGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGATGATGGTGGTGGTGGTGACAATGGTGGTGGTGATG GTGGTGATAGGGTGGTGGTGATGGTGATAGTAGTGGTGGGAATGGA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	167	0.0060	295	c.261 others(312): Show c.2612-582_2612-581insTTGGTGATGGTGGTGATAGTGCTGGTGA GGATGGTGATGGTGGTGATGGTGGTGGTGATGGCAGTGATGATGGTGGAG GTGATGGTGGTAGTTATGGTGATGATGGTGGTAGTGGTGATGGTGGTGGT GTTGGTGATGGTGGTGATAGTGTTGGTGGGAATGGATGGTGGTAGTAGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGATGATGGTGGTGGTGGTGAC AATGGTGGTGGTGATGGTGGTGATAGGGTGGTGGTGATGGTGATAGTAGT GGTGGGAATGGATGGTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724687	G G	GTGGTGAT others(288): Show GTGGTGATGGTGGTGGTGAGGATGGTGATGGTGGTGATGGTGGTGGTGAT GGTGGTGGTGATGGTGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGA TGGTGGTAGTGGTGATGGTGGTGGTGTTGGTGATGGTGGTGATAGTAGTG GTGGGAATGGATGGTGGTGGTGATGGTGATGGTGGTGGTGTTGGTGATGA TGGTGGTGATGGTGCTGGTGAGGATGGTGATGGTGGTGATGGTGGTGGTG ATGGCAGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	164	0.0061	295	c.261 others(312): Show c.2612-462_2612-461insATGGTGGTGGTGAGGATGGTGATGGTGG TGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTGGAGGTGATGGTG GTAGTTATGGTGATGATGGTGGTAGTGGTGATGGTGGTGGTGTTGGTGAT GGTGGTGATAGTAGTGGTGGGAATGGATGGTGGTGGTGATGGTGATGGTG GTGGTGTTGGTGATGATGGTGGTGATGGTGCTGGTGAGGATGGTGATGGT GGTGATGGTGGTGGTGATGGCAGTGATGATGGTGGAGGTGATGGTGGTAG TTATGGTGATGATGGTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPADH_chr10_122667850_122684494	122680807	C C	CGTGTGAA others(288): Show CGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATG GTTTCCTCACGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTG TCAACCATGGTTTCCTCATGTGTGAACTGGAGATAGAAACATCAGACCTT TTACTTCTGTCAACCATGGTTTTCTCACGTGTGAACTGGAGATAGAAACA TCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCACGTGTGAACTGGAG ATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	3	412	0.0073	295	c.17 others(306): Show c.1759_*1760insGTGTGAACTGGAGATAGAAACATCAGACCTTTTA CCTCTGTCAACCATGGTTTCCTCACGTGTGAACTGGAGATAGAAACATCA GACCTTTTACCTCTGTCAACCATGGTTTCCTCATGTGTGAACTGGAGATA GAAACATCAGACCTTTTACTTCTGTCAACCATGGTTTTCTCACGTGTGAA CTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTC ACGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCAT GGTTTCCTCAT	SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding		1314		chr10	TogoVar
SPADH_chr10_122667850_122684494	122681879	T T	TGGAGATA others(288): Show TGGAGATAGAAACATCAGAACTTTTACCTCTGTCAACCATGGTTTTCTCG TGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATG GTTTCCTCATGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTG TCAACCATGGTTTCCTCATGTGTGAACTGGAGATAGAAACATCAGACCTT TTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACA TCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCGTGTGTGAACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	389	0.0026	295	c.28 others(306): Show c.2831_*2832insGGAGATAGAAACATCAGAACTTTTACCTCTGTCA ACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACATCAGACCTTTTA CCTCTGTCAACCATGGTTTCCTCATGTGTGAACTGGAGATAGAAACATCA GACCTTTTACCTCTGTCAACCATGGTTTCCTCATGTGTGAACTGGAGATA GAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAA CTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTC GTGTGTGAACC	SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding		2386		chr10	TogoVar
SPG7_chr16_89503403_89562766	89541006	G G	GACTAGAA others(288): Show GACTAGAAGAGCTGAAACTGGTGTATCCTTATCACGGTGTTGTACGCAGA AATAGAAGAGCTGAAACTGGTGTATCCTTATCACGGTGTTGTACGCAGAA ATAGAAGAGCTGAAACTGGTGTATCCTTATCACGGTGTTCTACGCAGAAA TAGAAGAGCTGAAACTGGTGTATCCTTATCACGGTGTTCTACGCAGAAAT AGAAGAGCTGAAACTGGTGTATCCTTATCACAGTGTTCTACGCAGAAATA GAAGAGCTGAAACTGGTGTATCCTTATCACGGCGTTCTACACAGCA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0056 a0003c0003t0002g0056	1	163	0.0061	295	c.132 others(314): Show c.1325-3412_1325-3411insAGTGTTCTACGCAGAAATAGAAGAGC TGAAACTGGTGTATCCTTATCACGGCGTTCTACACAGCAACTAGAAGAGC TGAAACTGGTGTATCCTTATCACGGTGTTGTACGCAGAAATAGAAGAGCT GAAACTGGTGTATCCTTATCACGGTGTTGTACGCAGAAATAGAAGAGCTG AAACTGGTGTATCCTTATCACGGTGTTCTACGCAGAAATAGAAGAGCTGA AACTGGTGTATCCTTATCACGGTGTTCTACGCAGAAATAGAAGAGCTGAA ACTGGTGTATCCTTATCAC	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(288): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0104 a0003c0003t0001g0104	1	6	0.1667	295	c.138 others(314): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137190011	C C	CTATAATT others(288): Show CTATAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAACCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0118 a0001c0001t0017g0118	1	137	0.0073	295	c.233 others(314): Show c.233-49318_233-49317insCCCAGCACTTTGGGAGGCCGAGGCGG GCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGTTAAAACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAGAAATTATA	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
STK10_chr5_172037079_172193224	172076500	A A	AGTTGTGG others(288): Show AGTTGTGGGGGCTGTCCTGTGCGTTAGTTGTGGGGGCGTCCTGTGCATTT GTTGTGGGGGCTGTCCTGTGCGTTAGTTGTGGGGGCTGTCCTGTGCGTTT AGTTGTGGGGGCTGTCCTGTGCGTTAGTTGTGGGGGCGTCCTGTGCATTT GTTGTGGGGGCTGTCCTGTGCATTAGTTGTGGGGGCTGTCCTGTGCGTTA GTTGTGGGGGCGTCCTGTGCGTTAGTTGTGGGGGCGTCCTGTGCGTTAGT TGTGGGGGCGTCCTATGCATTTGTTGTGGGGGCGTCCTGTGCATTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0055 a0001c0003t0011g0055	1	169	0.0059	295	c.198 others(314): Show c.1989+5825_1989+5826insAAATGCACAGGACGCCCCCACAACAA ATGCATAGGACGCCCCCACAACTAACGCACAGGACGCCCCCACAACTAAC GCACAGGACGCCCCCACAACTAACGCACAGGACAGCCCCCACAACTAATG CACAGGACAGCCCCCACAACAAATGCACAGGACGCCCCCACAACTAACGC ACAGGACAGCCCCCACAACTAAACGCACAGGACAGCCCCCACAACTAACG CACAGGACAGCCCCCACAACAAATGCACAGGACGCCCCCACAACTAACGC ACAGGACAGCCCCCACAAC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	12/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172076500	A A	AGTTGTGG others(288): Show AGTTGTGGGGGCTGTCCTGTGCGTTAGTTGTGGGGGCGTCCTGTGCATTT GTTGTGGGGGCTGTCCTGTGCGTTAGTTGTGGGGGCTGTCCTGTGCGTTT AGTTGTGGGGGCTGTCCTGTGCGTTAGTTGTGGGGGCGTCCTGTGCATTT GTTGTGGGGGCTGTCCTGTGCATTAGTTGTGGGGGCTGTCCTGTGCGTTA GTTGTGGGGGCGTCCTGTGCGTTAGTTGTGGGGGCGTCCTGTGCGTTAGT TGTGGGGGCGTCCTGTGCATTTGTTGTGGGGGCGTCCTGTGCATTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG01069.hp1 others(27): Show HG00140.hp2 HG00642.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01515.hp2 HG02145.hp2 HG02293.hp1 HG02486.hp2 HG02717.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03239.hp1 HG03453.hp2 HG03516.hp1 HG03704.hp1 NA18953.hp1 NA18998.hp2 NA19084.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0014	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(13): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0037 a0001c0004t0001 a0001c0004t0030 a0001c0004t0032 a0001c0008t0009 a0001c0008t0029 a0001c0010t0001 a0001c0010t0005 a0001c0011t0001 a0001c0012t0002 a0001c0014t0012	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0160 others(27): Show a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0160 a0001c0001t0001g0173 a0001c0001t0006g0213 a0001c0002t0001g0011 a0001c0002t0001g0189 a0001c0002t0002g0008 a0001c0002t0002g0212 a0001c0002t0002g0224 a0001c0003t0001g0074 a0001c0003t0001g0077 a0001c0003t0001g0088 a0001c0003t0001g0095 a0001c0003t0001g0099 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0159 a0001c0003t0037g0084 a0001c0004t0001g0181 a0001c0004t0030g0147 a0001c0004t0032g0085 a0001c0008t0009g0012 a0001c0008t0029g0013 a0001c0010t0001g0157 a0001c0010t0005g0156 a0001c0011t0001g0017 a0001c0012t0002g0023 a0001c0014t0012g0169 a0001c0014t0012g0171	30	198	0.1515	295	c.198 others(314): Show c.1989+5825_1989+5826insAAATGCACAGGACGCCCCCACAACAA ATGCACAGGACGCCCCCACAACTAACGCACAGGACGCCCCCACAACTAAC GCACAGGACGCCCCCACAACTAACGCACAGGACAGCCCCCACAACTAATG CACAGGACAGCCCCCACAACAAATGCACAGGACGCCCCCACAACTAACGC ACAGGACAGCCCCCACAACTAAACGCACAGGACAGCCCCCACAACTAACG CACAGGACAGCCCCCACAACAAATGCACAGGACGCCCCCACAACTAACGC ACAGGACAGCCCCCACAAC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	12/18			chr5	TogoVar
STK32A_chr5_147230026_147392855	147258153	T T	TAACCTTT others(288): Show TAACCTTTTATAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG00642.hp2 others(58): Show HG00558.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG01071.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG02015.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp2 HG04115.hp1 NA18612.hp1 NA18747.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18962.hp1 NA18965.hp2 NA18984.hp1 NA18989.hp1 NA19030.hp2 NA19072.hp1 NA19091.hp2 NA20129.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0002c0003t0016	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0018 others(58): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0187 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0002g0002 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0047 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0003g0017 a0001c0001t0003g0051 a0001c0001t0003g0056 a0001c0001t0003g0218 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0027 a0001c0001t0004g0179 a0001c0001t0006g0039 a0001c0001t0006g0192 a0001c0001t0007g0188 a0001c0001t0007g0217 a0001c0001t0008g0019 a0001c0001t0009g0190 a0001c0001t0010g0016 a0001c0001t0012g0212 a0001c0001t0015g0310 a0001c0001t0019g0021 a0001c0001t0022g0041 a0001c0001t0023g0015 a0001c0001t0027g0206 a0001c0001t0028g0193 a0001c0001t0030g0213 a0002c0003t0016g0053	61	294	0.2075	295	c.52+ others(312): Show c.52+18484_52+18485insTTTTTTTTTTTTTTTTTGAGACGGAGTC TTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC AACCTTTTATAATTTTT	STK32A	ENSG00000169302.16	transcript	ENST00000397936.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
STK32C_chr10_132202492_132312950	132284843	A A	AACACATT others(288): Show AACACATTCCCACATCTGCCCAAAGACCAGGCATGAACCCAGAACACATT CCCACGTCTGCCCAAAAGACCAGGCATGAACCCAGAACACATTCCCACGT CTGCCCAAAGACCAGGCATGAACCCAGAACACATTCCCACGTCTGCCCAA AGACCAGGCATGAACCCAGAACATATTCCCACATCTGCCCAAAGACCAGG CATGAACCCAGAACACATTCTCACACGTGCCCAAAGACCAGGCATGAACC CAGAGCACATTCCCACACCTGCCCAAAGACCAGGCATGAACCCAGG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0001 a0005c0019t0001	a0005c0019t0001g0110 a0005c0019t0001g0110	1	294	0.0034	295	c.262 others(314): Show c.262+22728_262+22729insCCTGGGTTCATGCCTGGTCTTTGGGC AGGTGTGGGAATGTGCTCTGGGTTCATGCCTGGTCTTTGGGCACGTGTGA GAATGTGTTCTGGGTTCATGCCTGGTCTTTGGGCAGATGTGGGAATATGT TCTGGGTTCATGCCTGGTCTTTGGGCAGACGTGGGAATGTGTTCTGGGTT CATGCCTGGTCTTTGGGCAGACGTGGGAATGTGTTCTGGGTTCATGCCTG GTCTTTTGGGCAGACGTGGGAATGTGTTCTGGGTTCATGCCTGGTCTTTG GGCAGATGTGGGAATGTGT	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STOML3_chr13_38960925_38995831	38988594	A A	ATATATTT others(288): Show ATATATTTTATATCATATATTTTATATATAATATATTTTATATCATATAT TTTATATATAATATATTTTATATCATATATTTTATATATAATATATTTTA TATCATATATTTTATATATAATATATTTTATATCATATATTTTATATATA ATATATTATATTTTATATCATATATTTTATATATAATATATTATATTTTA TATCATATATTTTATATATAATATATTATATTTTATATCATATATTTTAT ATATAATATATTATATTTTATATCATATATTTTATATATAATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18612.hp1 NA18960.hp1 others(1): Show HG02523.hp1 NA18612.hp1 NA18960.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0014 a0001c0001t0001g0059 a0001c0001t0001g0060	4	358	0.0112	295	c.52+ others(310): Show c.52+2075_52+2076insATATATTATATATAAAATATATGATATAAA ATATAATATATTATATATAAAATATATGATATAAAATATAATATATTATA TATAAAATATATGATATAAAATATAATATATTATATATAAAATATATGAT ATAAAATATAATATATTATATATAAAATATATGATATAAAATATATTATA TATAAAATATATGATATAAAATATATTATATATAAAATATATGATATAAA ATATATTATATATAAAATATATGATATAAAATATATTATATATAAAATAT ATGATATAAAATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOX2_chr4_183900307_184028526	183932378	A A	AGTATATG others(288): Show AGTATATGTATGTATACATACAGTATATGTATGTATACATACAGTATATG TATGTATACATACAGTATATGTATGTATACATACAGTATATGTATGTATA CATACAGTATATGTATGTATACATACAGTATATGTATGTATACATACAGT ATATGTATGTATACATACAGTATATGTATGTATACATACAGTATATGTAT GTATACATACAGTATATGTATGTATACATACAGTATATGTATGTATACAT ACAGTATATGTATGTATACATACAGTATATGTATGTATACATACAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp2 HG03540.hp1 HG02630.hp1 HG02647.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0001t0035 a0001c0002t0062 a0001c0001t0016 a0001c0001t0035 a0001c0002t0062	a0001c0001t0016g0313 a0001c0001t0035g0317 a0001c0002t0062g0261 a0001c0001t0016g0313 a0001c0001t0035g0317 a0001c0002t0062g0261	3	313	0.0096	295	c.166 others(314): Show c.166+25541_166+25542insACATACAGTATATGTATGTATACATA CAGTATATGTATGTATACATACAGTATATGTATGTATACATACAGTATAT GTATGTATACATACAGTATATGTATGTATACATACAGTATATGTATGTAT ACATACAGTATATGTATGTATACATACAGTATATGTATGTATACATACAT GTATATGTATGTATACATACAGTATATGTATGTATACATACAGTATATGT ATGTATACATACAGTATATGTATGTATACATACAGTATATGTATGTATAC ATACAGTATATGTATGTAT	STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
SWAP70_chr11_9659077_9757993	9706165	T T	TTGGTGAT others(288): Show TTGGTGATCTGTATACACTGGTGATCTGTATACACTGGTGATCTGTGTAT ACTTGGTGATCTGTATGCACTGGTGATCTGTATACACTGGTGATCTGTGT ATACTTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTG TATGCACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATC TGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGA TCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01981.hp1 HG03486.hp1 others(1): Show HG01346.hp1 HG01981.hp1 HG03486.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0259 others(1): Show a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0259 a0001c0003t0003g0240	4	247	0.0162	295	c.241 others(312): Show c.241-7273_241-7272insATACACTGGTGATCTGTGTATACTTGGT GATCTGTATGCACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTG GTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATGCAC TGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATAC ACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTAT ACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGT ATACACTGGTGATCTGT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWT1_chr1_185152167_185296781	185187062	T T	TTTTTTTT others(288): Show TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT TTTAGCCGGGATGGCCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02071.hp2 HG03654.hp1 others(12): Show HG00438.hp1 HG02071.hp2 HG03654.hp1 HG03704.hp2 NA18962.hp1 NA18964.hp2 NA18969.hp2 NA18973.hp1 NA18974.hp2 NA19001.hp1 NA19009.hp2 NA19011.hp1 NA19072.hp1 NA19074.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0029 a0001c0001t0002g0273 others(12): Show a0001c0001t0002g0012 a0001c0001t0002g0029 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0289 a0001c0001t0002g0290	15	319	0.0470	295	c.142 others(314): Show c.1429+2141_1429+2142insTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTTTTTTTTTT	SWT1	ENSG00000116668.13	transcript	ENST00000367500.9	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATATACA others(288): Show TATATACATATATACATATATACACATATGTGTACATATGTGTATATATA CATATATATACACATATATATGTATATATACACATATGTGAATATGTATA TATGTGTTATATATACACATATGTGTATATGTATATATACATATATACAC ATATGTGTATATATACATATATACATATACACATATGTGTATATATAACA CATATATACATATTCACATATGTGTATATATAACACATATATACACATAT GTGTATATATAACATATATACATATTCACATATGTGTATATATAAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03041.hp2 HG01109.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0357 a0001c0001t0027g0362 a0001c0001t0027g0357 a0001c0001t0027g0362	2	31	0.0645	295	c.158 others(314): Show c.1582-2860_1582-2859insCATATATACATATATACACATATGTG TACATATGTGTATATATACATATATATACACATATATATGTATATATACA CATATGTGAATATGTATATATGTGTTATATATACACATATGTGTATATGT ATATATACATATATACACATATGTGTATATATACATATATACATATACAC ATATGTGTATATATAACACATATATACATATTCACATATGTGTATATATA ACACATATATACACATATGTGTATATATAACATATATACATATTCACATA TGTGTATATATAACATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TBC1D32_chr6_121074494_121339480	121160497	C C	CAAGAAGG others(288): Show CAAGAAGGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAACTAA ATTGAATATTGGATTTACATTTTATTGTATCTTAAAATGCACATAGCAAA ACCCACTGATTTCAATTTAATTAACATAGAAACCAAGATATGCTTTGTAA ATTTTACAAGTAAAGCTGAATCCAGAGAAAAAACAATTTTTATGAACTTA CTTTAAATGTCAGTTAGTAATTAAGAAAGAGCACCATAGAAAAGTCAAGT TACTACAATTTTCTATTAGGTATACTTTACAATCCTTTATCTTACT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02132.hp1 HG02071.hp1 HG02132.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0011 a0003c0004t0003 a0003c0004t0011	a0003c0004t0003g0003 a0003c0004t0011g0010 a0003c0004t0003g0003 a0003c0004t0011g0010	2	248	0.0081	295	c.268 others(312): Show c.2680-395_2680-394insAGTAAGATAAAGGATTGTAAAGTATACC TAATAGAAAATTGTAGTAACTTGACTTTTCTATGGTGCTCTTTCTTAATT ACTAACTGACATTTAAAGTAAGTTCATAAAAATTGTTTTTTCTCTGGATT CAGCTTTACTTGTAAAATTTACAAAGCATATCTTGGTTTCTATGTTAATT AAATTGAAATCAGTGGGTTTTGCTATGTGCATTTTAAGATACAATAAAAT GTAAATCCAATATTCAATTTAGTTTAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGAACCTTCTT	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	23/31			chr6	TogoVar
TCF12_chr15_56913644_57294853	57075753	G G	GTTCTTTC others(288): Show GTTCTTTCTTTCTTCTTTCTTTCTTCTTCTTCTTCTTCTTTCTTTCTCTC TCTCTCTCTCTCTCTCTTTCTTCTTCTTTCTTTCTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	328	0.0030	295	c.222 others(314): Show c.222+11932_222+11933insCTTTCTTTCTTCTTTCTTTCTTCTTC TTCTTCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTCTTCTTT CTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TMEM120B_chr12_121707752_121787068	121784284	T T	TGCCTGTA others(288): Show TGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGT CAGAGATCGAGACCATCCTGGCCAACACGGTTAAACCCTGTCTCTATTAA AAATACAAAAATTAGCTGGGTGTGGTGGCGCGCGCCTGTAGTCCCAGCTA CTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTG CAGTGAGCCAAGATCACGCCACTGAACTCCAACCTGGTGACAGAGGGAGA CTCAGTCTCAAAAAAAAAAAAAAAAAAGCTGAGCGCGGTGGCTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0312 a0001c0001t0044g0312	1	310	0.0032	295	c.85 others(306): Show c.8562_*8563insGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCA GGCGGATCATGAGGTCAGAGATCGAGACCATCCTGGCCAACACGGTTAAA CCCTGTCTCTATTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCGC CTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACCT GGGAAGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGAACTCCAACCT GGTGACAGAGGGAGACTCAGTCTCAAAAAAAAAAAAAAAAAAGCTGAGCG CGGTGGCTCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding		2217		chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121784287	T T	TTGTAATC others(288): Show TTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAG AGATCGAGACCATCCTGGCCAACACGGTTAAACCCTGTCTCTATTAAAAA TACAAAAATTAGCTGGGTGTGGTGGCGCGCGCCTGTAGTCCCAGCTACTT GGAAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTGCAG TGAGCCAAGATCACGCCACTGAACTCCAACCTGGTGACAGAGGGAGACTC AGTCTCAAAAAAAAAAAAAAAAAAGCTAAGCGCGGTGGCTCACGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02723.hp2 NA19030.hp1 HG01109.hp2 HG02723.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0101 a0001c0001t0004 a0001c0001t0101	a0001c0001t0004g0148 a0001c0001t0004g0180 a0001c0001t0101g0083 a0001c0001t0004g0148 a0001c0001t0004g0180 a0001c0001t0101g0083	3	253	0.0119	295	c.85 others(306): Show c.8565_*8566insTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGC GGATCATGAGGTCAGAGATCGAGACCATCCTGGCCAACACGGTTAAACCC TGTCTCTATTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCGCCTG TAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACCTGGG AAGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGAACTCCAACCTGGT GACAGAGGGAGACTCAGTCTCAAAAAAAAAAAAAAAAAAGCTAAGCGCGG TGGCTCACGCC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding		2220		chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121784287	T T	TTGTAATC others(288): Show TTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAG AGATCGAGACCATCCTGGCCAACACGGTTAAACCCTGTCTCTATTAAAAA TACAAAAATTAGCTGGGTGTGGTGGCGCGCGCCTGTAGTCCCAGCTACTT GGAAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTGCAG TGAGCCAAGATCACGCCACTGAACTCCAACCTGGTGACAGAGGGAGACTC AGTCTCAAAAAAAAAAAAAAAAAAGCTGAGCGCGGTGGCTCACGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01243.hp2 others(43): Show HG00140.hp1 HG00735.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01943.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA19004.hp1 NA19043.hp1 NA19060.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0009 others(1): Show a0001c0001 a0001c0004 a0001c0009 a0002c0002	a0001c0001t0004 a0001c0001t0009 a0001c0001t0015 others(22): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0015 a0001c0001t0018 a0001c0001t0035 a0001c0001t0036 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0046 a0001c0001t0072 a0001c0001t0076 a0001c0001t0084 a0001c0001t0108 a0001c0001t0110 a0001c0004t0004 a0001c0004t0099 a0001c0004t0100 a0001c0009t0018 a0002c0002t0004 a0002c0002t0009 a0002c0002t0015 a0002c0002t0018 a0002c0002t0024 a0002c0002t0034	a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0004g0107 others(42): Show a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0004g0107 a0001c0001t0004g0249 a0001c0001t0004g0253 a0001c0001t0004g0256 a0001c0001t0004g0300 a0001c0001t0009g0004 a0001c0001t0009g0005 a0001c0001t0009g0151 a0001c0001t0009g0152 a0001c0001t0009g0289 a0001c0001t0015g0101 a0001c0001t0015g0116 a0001c0001t0015g0269 a0001c0001t0018g0024 a0001c0001t0018g0140 a0001c0001t0035g0134 a0001c0001t0036g0121 a0001c0001t0036g0123 a0001c0001t0040g0259 a0001c0001t0040g0260 a0001c0001t0041g0262 a0001c0001t0042g0252 a0001c0001t0042g0254 a0001c0001t0046g0067 a0001c0001t0072g0173 a0001c0001t0076g0287 a0001c0001t0084g0146 a0001c0001t0108g0182 a0001c0001t0110g0078 a0001c0004t0004g0012 a0001c0004t0099g0010 a0001c0004t0100g0082 a0001c0009t0018g0131 a0002c0002t0004g0084 a0002c0002t0004g0085 a0002c0002t0004g0290 a0002c0002t0009g0058 a0002c0002t0015g0306 a0002c0002t0018g0086 a0002c0002t0024g0197 a0002c0002t0024g0215 a0002c0002t0034g0213 a0002c0002t0034g0214	46	296	0.1554	295	c.85 others(306): Show c.8565_*8566insTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGC GGATCATGAGGTCAGAGATCGAGACCATCCTGGCCAACACGGTTAAACCC TGTCTCTATTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCGCCTG TAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACCTGGG AAGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGAACTCCAACCTGGT GACAGAGGGAGACTCAGTCTCAAAAAAAAAAAAAAAAAAGCTGAGCGCGG TGGCTCACGCC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding		2220		chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128708285	C C	CACTCACC others(288): Show CACTCACCATCATCCACACCAGTGCTCAAAGTCAGCAAGCAGGAGGGCGT TCATTCATACACTCACCATCATCCACACCAGTGCTCAAAGTCAGCAAGCA GGAGGGCGTTCATTCATAGACTCACCATCATCCACACCAGTGCCCAAAGT CAGAGAGCAGGAGGGCCTTCATTCATAGACCCACCATCTTCCACACCAGC GTTCAGAGTCAGTGAGGAGAAGGGTGTTCATTCATAGATCCACCGTCATC CACACCGGTGCTCAAACTCAGCAAGCAGGAGGGCGTTCATTCATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02451.hp2 others(1): Show HG02257.hp2 HG02280.hp2 HG02451.hp2 HG03041.hp1	a0004 a0007 a0012 a0004 a0007 a0012	a0004c0013 a0007c0028 a0007c0077 others(1): Show a0004c0013 a0007c0028 a0007c0077 a0012c0055	a0004c0013t0001 a0007c0028t0001 a0007c0077t0001 others(1): Show a0004c0013t0001 a0007c0028t0001 a0007c0077t0001 a0012c0055t0001	a0004c0013t0001g0016 a0007c0028t0001g0081 a0007c0077t0001g0147 others(1): Show a0004c0013t0001g0016 a0007c0028t0001g0081 a0007c0077t0001g0147 a0012c0055t0001g0009	4	162	0.0247	295	c.19 others(306): Show c.1990_*1991insACTCACCATCATCCACACCAGTGCTCAAAGTCAG CAAGCAGGAGGGCGTTCATTCATACACTCACCATCATCCACACCAGTGCT CAAAGTCAGCAAGCAGGAGGGCGTTCATTCATAGACTCACCATCATCCAC ACCAGTGCCCAAAGTCAGAGAGCAGGAGGGCCTTCATTCATAGACCCACC ATCTTCCACACCAGCGTTCAGAGTCAGTGAGGAGAAGGGTGTTCATTCAT AGATCCACCGTCATCCACACCGGTGCTCAAACTCAGCAAGCAGGAGGGCG TTCATTCATAG	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding		375		chr12	TogoVar
TMPRSS2_chr21_41459305_41513158	41474967	G G	GAAGGGGG others(288): Show GAAGGGGGGAGTGAGGAGGAGAGTGAGGGGGTGAAGGCATGAGTGAGGGG GTGAATGGGTGAGAGACGGGGTGAGTGAGGGGTGAAGGGATGAATGAGGG GGTAAGTAAGGGGTTGAGGGGGTGAGGGGGTGAGTGAGGAGGTGAAGGGT GAGTGAGGGCGTGAGGGGGTGAGGGAGTGAGGGATTAGTGAGGGGGTGAG GGGTTGAGTGAGGAGGTGAGCAGGTGGGTGAGTGGATGAAGGGGTGAGTG AGGGGGTGAGGGGTGAATGAGGGGTTGAGTAGGGGGTGAGTGAGGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0346 a0001c0023t0001g0346	1	356	0.0028	295	c.728 others(312): Show c.728-1472_728-1471insTCCTCACTCACCCCCTACTCAACCCCTC ATTCACCCCTCACCCCCTCACTCACCCCTTCATCCACTCACCCACCTGCT CACCTCCTCACTCAACCCCTCACCCCCTCACTAATCCCTCACTCCCTCAC CCCCTCACGCCCTCACTCACCCTTCACCTCCTCACTCACCCCCTCACCCC CTCAACCCCTTACTTACCCCCTCATTCATCCCTTCACCCCTCACTCACCC CGTCTCTCACCCATTCACCCCCTCACTCATGCCTTCACCCCCTCACTCTC CTCCTCACTCCCCCCTT	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TNNT1_chr19_55127698_55154206	55134768	A A	AGGAGAAG others(288): Show AGGAGAAGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGGGAAG AAGAAGGGAGGGGAGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAG GGGAGGAGAGGGGAGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAG GGGATGGGAAAATAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAG GAGAGAAGAGGGGAGGGGAAGGGAGGAAAGGGGAGGGGAGGAGAGAAGAG GGGAGGGGAGGGGAGGAAAGGGGAGGAAAGGGGAGGGGAGAAGAGG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	214	0.0047	295	c.612 others(310): Show c.612-565_612-564insCCTCTTCTCCCCTCCCCTTTCCTCCCCTTT CCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCCCCTTTCCTCCCTTCC CCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCC CCTATTTTCCCATCCCCTCTCCTCCCCTCTTCTCCCCTCCCGTCTTCTGC CCTCCCCTCTCCTCCCCTCTTCTCCGCTCTCCTCCCCTCTTCTCCCCTCC CCTCCCCTCCCTTCTTCTTCCCTCCTCTCCCCTCCCCTCTTCTCCTCTCC CCTCCCCTCTTCTCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TNNT1_chr19_55127698_55154206	55134768	A A	AGGAGAAG others(288): Show AGGAGAAGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGGGAAG AAGAAGGGAGGGGAGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAG GGGAGGAGAGGGGAGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAG GGGATGGGAAAATAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAG GAGAGAAGAGGGGAGGGGAGGGGAGGAAAGGGGAGGGGAGGAGAGAAGAG GGGAGGGGAGGGGAGGAAAGGGGAGGAAAGGGGAGGGGAGAAGAGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01952.hp1 HG02083.hp1 others(17): Show HG00621.hp1 HG01952.hp1 HG02083.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02965.hp1 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03471.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp2 NA18944.hp2 NA18970.hp1 NA19030.hp1 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0073 others(14): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0208 a0001c0001t0001g0237 a0001c0001t0001g0274 a0001c0001t0001g0279 a0001c0001t0003g0030	20	233	0.0858	295	c.612 others(310): Show c.612-565_612-564insCCTCTTCTCCCCTCCCCTTTCCTCCCCTTT CCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCCCCTTTCCTCCCCTCC CCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCC CCTATTTTCCCATCCCCTCTCCTCCCCTCTTCTCCCCTCCCGTCTTCTGC CCTCCCCTCTCCTCCCCTCTTCTCCGCTCTCCTCCCCTCTTCTCCCCTCC CCTCCCCTCCCTTCTTCTTCCCTCCTCTCCCCTCCCCTCTTCTCCTCTCC CCTCCCCTCTTCTCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TNPO3_chr7_128949185_129060111	129059138	T T	TATTTTTA others(288): Show TATTTTTAAAAGTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0183 a0001c0003t0002g0183	1	333	0.0030	295	c.-43 others(306): Show c.-4369_-4368insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCT GGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAA CTTTTAAAAAT	TNPO3	ENSG00000064419.14	transcript	ENST00000265388.10	protein_coding		4028		chr7	TogoVar
TPK1_chr7_144446941_144841053	144780552	G G	GTATATTA others(288): Show GTATATTATATTATATAGTACATAATATAGTATATTATATTATATAGTAC ATAATATAGTATATTATATTATATAGTACATAATATAGTATATTATATTA TATAGTACATAATATAGTATATTATATTATATAGTACATAATATAGTATA TTATATTATATAGTACATAATATAGTATATTATATTATATAGTACATAAT ATAGTATATTATATTATATAGTACATAATATAGTATATTATATTATATAG TATATAATATAGTATATTATATTATATAGTATATAATATAGTATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	81	0.0123	295	c.44- others(312): Show c.44-14602_44-14601insATATACTATATTATATACTATATAATAT AATATACTATATTATATACTATATAATATAATATACTATATTATGTACTA TATAATATAATATACTATATTATGTACTATATAATATAATATACTATATT ATGTACTATATAATATAATATACTATATTATGTACTATATAATATAATAT ACTATATTATGTACTATATAATATAATATACTATATTATGTACTATATAA TATAATATACTATATTATGTACTATATAATATAATATACTATATTATGTA CTATATAATATAATATA	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
TRAF2_chr9_136881516_136931607	136897801	T T	TCCGCTCT others(288): Show TCCGCTCTCGGGGCTGGAGGGGAACCCGTGGTAGCTAAAGGGAGTGCACT AGCCAGCTCCAGGTGTGCTACGTTCCGCTCTCGGGGCTGGAGGGGAACCC GTGGTAGCTAAAGGGAGTGCACTAGCCAGCTCCAGGTGTGCTACATTCCC GCTCTCGGGGCTGGAGGGGAACCCGTGGTAGCTATAGGGAGTGCACTAGC CAGCCTCAGGTGTGCTACGTTCCCGCTCTCGGGGCTGGAGGGGAACCCGT GGTAGCTAAAGGGAGTGCACTAGCCAGCCTCAGGTGTGCTACGTTC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	82	0.0122	295	c.-28 others(310): Show c.-28-876_-28-875insAAGGGAGTGCACTAGCCAGCTCCAGGTGTG CTACGTTCCGCTCTCGGGGCTGGAGGGGAACCCGTGGTAGCTAAAGGGAG TGCACTAGCCAGCTCCAGGTGTGCTACATTCCCGCTCTCGGGGCTGGAGG GGAACCCGTGGTAGCTATAGGGAGTGCACTAGCCAGCCTCAGGTGTGCTA CGTTCCCGCTCTCGGGGCTGGAGGGGAACCCGTGGTAGCTAAAGGGAGTG CACTAGCCAGCCTCAGGTGTGCTACGTTCCCGCTCTCGGGGCTGGAGGGG AACCCGTGGTAGCTA	TRAF2	ENSG00000127191.18	transcript	ENST00000247668.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
TRAF6_chr11_36478769_36515272	36507456	A A	ATATGTAT others(288): Show ATATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATA TACATTATACATACGTAAATGTATATATGTATATATACATTATACATACG TAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTAT ATATACATTATACATACGTAAATGTATAATGTATATATACATTATACATA CGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATGTATA TATACATTATACATACGTAAATGTATTATACATAAATGTATATATG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	30	0.0333	295	c.-23 others(312): Show c.-23+2591_-23+2592insCATATATACATTTATGTATAATACATTT ACGTATGTATAATGTATATATACATACATTTACGTATGTATAATGTATAT ATACATTATACATTTACGTATGTATAATGTATATATACATTATACATTTA CGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTAT ATATACATTATACATTTACGTATGTATAATGTATATATACATATATACAT TTACGTATGTATAATGTATATATACATATATACATTTACGTATGTATAAT ACATGTATATATACATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(288): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATAACATGATGATATGATACTATATCATCATATAACATGATGATA TGATACTATATCATCATATAACATGATGATATGATACTATATCATCATAT AACATGATGATATGATACTATATCATCATATAACATGATGATATGATACT ATATCATCATATAACATGATGATATGATACTATATCATCATATAAC	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0163 a0001c0001t0020g0163	1	87	0.0115	295	c.41- others(312): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT AACATGATGATATGATACTATATCATCATATAACATGATGATATGATACT ATATCATCATATAACATGATGATATGATACTATATCATCATATAACATGA TGATATGATACTATATCATCATATAACATGATGATATGATACTATATCAT CATATAACATGATGATATGATACTATATCATCATATAACATGATGATATG ATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204379	G G	GATGATAT others(288): Show GATGATATACTATATCATCATATAACATGATGATATACTATATCATCATA TAACATGATGATATACTATATCATCATATAACATGATGATATACTATATC ATCATATAACATGATGATATACTATATCATCATATAACATGATGATATAC TATATCATAATATAACATGATGATATGATACTATATCATAATATAACATG ATGATATGATACTATATCATAATATAACATGATGATATGATACTATTATA TCATAATATAACATTATGATATGATACTATATCATAATATAACATT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0014 a0002c0003t0005g0014	1	134	0.0075	295	c.41- others(312): Show c.41-49113_41-49112insACTATATCATCATATAACATGATGATAT ACTATATCATCATATAACATGATGATATACTATATCATCATATAACATGA TGATATACTATATCATCATATAACATGATGATATACTATATCATCATATA ACATGATGATATACTATATCATAATATAACATGATGATATGATACTATAT CATAATATAACATGATGATATGATACTATATCATAATATAACATGATGAT ATGATACTATTATATCATAATATAACATTATGATATGATACTATATCATA ATATAACATTATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL10_chr1_1168880_1202936	1176136	A A	ACGCTGTG others(288): Show ACGCTGTGCAGGTGGAGAGAGGCTGCCGCTGTGCCGGTGGAGAGGCTGCT GCCGTGCAGGTGGAGAGAGGCTGCCGCTGTGCCGGTGGAGAGGCTGCTGC TCCCAGCCGCTGTGCAGGTGGAGAGAGGCTGACGCTGTGCAGGTGGAAAG AGGCTGACGCTGTGCAGGTGGAGAGGCTGCTGCTCCCAGCCACTGTGCAG GTGGAGAGAGGCTGACGCTGTGCAGGTGGAGAGGCTGACGCTGTGCAGGT GGAGAGAGGCTGCCGCTGTGCAGGTGGAGAGACTGCTGCTCCCAGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0089 a0001c0016t0003g0089	1	380	0.0026	295	c.-28 others(312): Show c.-28+1671_-28+1672insCCGCTGTGCCGGTGGAGAGGCTGCTGCC GTGCAGGTGGAGAGAGGCTGCCGCTGTGCCGGTGGAGAGGCTGCTGCTCC CAGCCGCTGTGCAGGTGGAGAGAGGCTGACGCTGTGCAGGTGGAAAGAGG CTGACGCTGTGCAGGTGGAGAGGCTGCTGCTCCCAGCCACTGTGCAGGTG GAGAGAGGCTGACGCTGTGCAGGTGGAGAGGCTGACGCTGTGCAGGTGGA GAGAGGCTGCCGCTGTGCAGGTGGAGAGACTGCTGCTCCCAGCCGCTGTG CAGGTGGAGAGAGGCTG	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
TYK2_chr19_10345533_10385572	10376146	A A	AGGATTGC others(288): Show AGGATTGCAGGCACCTGCCACCATGCCTGGCTACATTTTGTATTTTTAGT AGAGATGCGGTTTCACTACATTGGCCAGGCTGGTCTTGAACTCCTGATCT CAGGTGATCTGCCCGCCTCAGCCTCTGAAAGTGTTGGGATTACAGGCATG AGCCACCACACCTGGCCTTTTTTTATTTTTGAAACGGAGTCTAGCTCTGT CACCCAGCCTGGAGTGCAGTGCTGTGATCTCGGCTCACTGCAACCTCCAT GTCCCAAGTTCAAGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0010 a0008c0010t0010	a0008c0010t0010g0045 a0008c0010t0010g0045	1	366	0.0027	295	c.193 others(312): Show c.193+2067_193+2068insCAGCTACTCAGGAGGCTGAGGCAGGAGA ATAGCTTGAACTTGGGACATGGAGGTTGCAGTGAGCCGAGATCACAGCAC TGCACTCCAGGCTGGGTGACAGAGCTAGACTCCGTTTCAAAAATAAAAAA AGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAACACTTTCAGAGGCTG AGGCGGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTGGCCAATG TAGTGAAACCGCATCTCTACTAAAAATACAAAATGTAGCCAGGCATGGTG GCAGGTGCCTGCAATCC	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
UNC5C_chr4_95157504_95553973	95196786	A A	ATATATAT others(288): Show ATATATATTATATTTATGTAATATATAATATATATATTATATTTATGTAA TATATAATATATATATTATATTTATGTAATATATAATATATATATTATAT TTATGTAATATATAATATATATTTATATTATATTTATGTAATATATAATA TATATTTATATATTATATTTATGTAATATATAATATATATTTATATATTA TATTTATGTAATATATAATATATATTTATATATTATATTTATGTAATATA TAATATATATTTATATATTATATTTATGTAATATATAATATATATT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0165 a0001c0005t0001g0165	1	3	0.3333	295	c.213 others(314): Show c.2136+5944_2136+5945insAATATATATTATATATTACATAAATA TAATATATAAATATATATTATATATTACATAAATATAATATATAAATATA TATTATATATTACATAAATATAATATATAAATATATATTATATATTACAT AAATATAATATATAAATATATATTATATATTACATAAATATAATATAAAT ATATATTATATATTACATAAATATAATATATATATTATATATTACATAAA TATAATATATATATTATATATTACATAAATATAATATATATATTATATAT TACATAAATATAATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UVSSA_chr4_1342208_1393049	1372861	T T	TGCACTCA others(288): Show TGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCCCTGCACT CACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCCCTGCACTCACCTC CCGCGTCTCAGGGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGC GTCTCAGGGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCT CAGGGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCTCAGG GCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCTCAGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0014 a0006c0015t0014	a0006c0015t0014g0057 a0006c0015t0014g0057	1	338	0.0030	295	c.128 others(314): Show c.1289-2462_1289-2461insCCTGCACTCACCTCCCGCGTCTCAGG GCACTCACCTCCCGCGTCCCTGCACTCACCTCCCGCGTCTCAGGGCACTC ACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCTCAGGGCACTCACCT CCCGCGTCTCAGGGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCG CGTCTCAGGGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTC TCAGGGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCTCAG GGCACTCACCTCCCGCGTC	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
VCX3A_chrX_6528618_6540118	6532851	C C	CCCTCCCT others(288): Show CCCTCCCTCCTCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCA CACACCACCTCTCCCTCCCTCCCTCCCCACACACCACCTCTCCCTCCCTC CCTCCCCACACACCACCTCTCCCTCCCTCCCTCCCCACACACCACCTCTT CCTCCCTCCCTCCTCACACACCACCTCTCCCTCCCTCCCTCCCCACACAC CTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTCCCTCCCTCCCTC CCCACACACCACCTCTTCCTCCCTCCCTCCTCACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	63	0.0159	295	c.89 others(304): Show c.893_*894insAAGAGGTGGTGTGTGAGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGAGGTGGTGTGTGAGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGA GGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		766		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6532987	C C	CTCCCCAC others(288): Show CTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTC CTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCC CACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCC TCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCA CCTCTTCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCT CCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	68	0.0147	295	c.75 others(304): Show c.757_*758insTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG GGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGA	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		630		chrX	TogoVar
VSIG4_chrX_66016738_66045080	66037335	T T	TATAATAT others(288): Show TATAATATATATAATAATTATATAATATAGTATATAATATATATTATATA ATAATAATATAATATATATAATAATTATATAATATTAGAATATATATTAT ACAATAATAATATAATATATATTATACAATAATAATATAATATATATTAT ACAATAATAATATAATATATATTATACAATAATAATATAATATATATATA ATTAGATAATATAATATATATAATAATAATATAATATAATATATAATATA TATTATATAGTAATAATATAATATAATATATAATATATATTATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	207	0.0048	295	c.55+ others(310): Show c.55+2608_55+2609insTATATAATATATATTATATATTATATTATA TTATTACTATATAATATATATTATATATTATATTATATTATTATTATATA TATTATATTATCTAATTATATATATATTATATTATTATTGTATAATATAT ATTATATTATTATTGTATAATATATATTATATTATTATTGTATAATATAT ATTATATTATTATTGTATAATATATATTCTAATATTATATAATTATTATA TATATTATATTATTATTATATAATATATATTATATACTATATTATATAAT TATTATATATATTAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
WDR64_chr1_241647281_241807777	241674918	T T	TCCTTCCT others(288): Show TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTT CCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCC TGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0279 a0001c0001t0004g0279	1	197	0.0051	295	c.483 others(310): Show c.483+171_483+172insCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCC TCCTTCCTTCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WDR64_chr1_241647281_241807777	241674918	T T	TCCTTCCT others(288): Show TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	197	0.0051	295	c.483 others(310): Show c.483+171_483+172insCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGC CTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCC TCCTTCCTGCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WDR64_chr1_241647281_241807777	241675052	T T	TTCCTCCC others(288): Show TTCCTCCCTCCTTCCTTCCTCACTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTCCCTCCCT CCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTC CCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTC CTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCC CTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0014 a0014	a0014c0032 a0014c0032	a0014c0032t0003 a0014c0032t0003	a0014c0032t0003g0231 a0014c0032t0003g0231	1	202	0.0050	295	c.483 others(310): Show c.483+306_483+307insCCTCCCTCCTTCCTTCCTCACTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCC CTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCC TGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCC TCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCT	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WRNIP1_chr6_2760393_2791952	2773769	T T	TAAAGAAT others(288): Show TAAAGAATCAATTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGT AGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA GGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03927.hp1 NA19012.hp2 HG03225.hp1 HG03927.hp1 NA19012.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0021 a0001c0004t0001 a0001c0004t0021	a0001c0004t0001g0062 a0001c0004t0001g0063 a0001c0004t0021g0079 a0001c0004t0001g0062 a0001c0004t0001g0063 a0001c0004t0021g0079	3	413	0.0073	295	c.125 others(314): Show c.1256+3422_1256+3423insAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAATCAATTAT	WRNIP1	ENSG00000124535.16	transcript	ENST00000380773.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
XYLB_chr3_38341785_38419985	38358206	T T	TAAAGGTT others(288): Show TAAAGGTTTGGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGC GACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp2 HG03492.hp2 HG02055.hp1 HG02622.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0347 a0001c0001t0002g0341 a0001c0001t0003g0336 a0001c0001t0001g0347 a0001c0001t0002g0341 a0001c0001t0003g0336	3	36	0.0833	295	c.141 others(312): Show c.141-2130_141-2129insGGTTTGGTCCCAGCACTTTGGGAGGCCG AGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGT CCGCAGTCCGACCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAA	XYLB	ENSG00000093217.11	transcript	ENST00000207870.8	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr3	TogoVar

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