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
SLC12A7_chr5_1045384_1117063	1096737	A A	AAGGGAGG others(312): Show AAGGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAAGGGAGGGAAGG AAGGAGGGAGGGAAGGAAGGAGGGAGGAAGGAAAGGAGGGAGGGGGGAAG GGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAAGGGAGGGAAGGAAG GAGGGAGGGAAGGAAGGAGGGAGGGAGGGATGAAGGGAGGGAGGGAGGGA AGGAAGAAAGGAGGGAGGGGGGAAGGGAGGGAAGGAAGGAGGGAGGAAGG AAAGGAGGGAGGGGGGAAGGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGA GGGAAGGGAGGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0015 a0002c0015t0015	a0002c0015t0015g0085 a0002c0015t0015g0085	1	118	0.0085	319	c.125 others(336): Show c.125-2490_125-2489insCCTTCCTTCCCTCCCTTCCCTCCTTCCT TCCCTCCCTCCTTCCTTCCCTCCCTTCCCCCCTCCCTCCTTTCCTTCCTC CCTCCTTCCTTCCCTCCCTTCCCCCCTCCCTCCTTTCTTCCTTCCCTCCC TCCCTCCCTTCATCCCTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTC CCTCCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTTCCCCC CTCCCTCCTTTCCTTCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCT CCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC1A2_chr11_35246205_35424558	35248783	C C	CTGGGGAT others(312): Show CTGGGGATTACTAGTGGTGCATGGATCACCTGGGGATTACTAGCAGTGCA TGGATCACCTGGGGATTACTACTGGTGCATGGATCACCAGGTGATTACTA GTGCTACATGGATCACCAGGGGATTACTAGCAGTGCATGGATCACCAGGG GATTACTAGCAGTGCATGGATCACCAGGGGATTACTAGCGGTGCATGGAT CACCAGGGGATTACTAGCGGTGCATGGATCACCAGGGGATTACTAGCAGT GCATGGATCACCAGGGGATTATTAGCAGTGTATGGATCACCAGGGGATTA CTAGCAGTGCATGGATCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0194 a0001c0002t0008g0194	1	306	0.0033	319	c.12 others(332): Show c.12110_*12111insAGTGATCCATGCACTGCTAGTAATCCCCTGGT GATCCATACACTGCTAATAATCCCCTGGTGATCCATGCACTGCTAGTAAT CCCCTGGTGATCCATGCACCGCTAGTAATCCCCTGGTGATCCATGCACCG CTAGTAATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCTGGTGATCC ATGCACTGCTAGTAATCCCCTGGTGATCCATGTAGCACTAGTAATCACCT GGTGATCCATGCACCAGTAGTAATCCCCAGGTGATCCATGCACTGCTAGT AATCCCCAGGTGATCCATGCACCACTAGTAATCCCCA	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding		2421		chr11	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(312): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGGCGGCAGGGGGAGGAGG CGGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGG AGGCGGGAGGGGGAGGAGGCGTGGGGGCGGGAGGGGGAGGAGGCGGGGAG GCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGG GAGGGGGCGGGAGGGGGAGGAGGCGGGGGGCGGGGGGGCGGGAGGGGAAG GAGGCGGGGGGGCGGGGGGGGCGGGGGGGCGGGAGGGGGAGGACGCGGGG GGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG02970.hp2 others(1): Show HG01891.hp2 HG02572.hp1 HG02970.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0011 a0001c0001t0016 others(1): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0016 a0001c0003t0033	a0001c0001t0004g0026 a0001c0001t0011g0215 a0001c0001t0016g0205 others(1): Show a0001c0001t0004g0026 a0001c0001t0011g0215 a0001c0001t0016g0205 a0001c0003t0033g0137	4	222	0.0180	319	c.914 others(338): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCGCCCCCCCCGCCCCCCCGCCTCCTTCCC CTCCCGCCCCCCCGCCCCCCGCCTCCTCCCCCTCCCGCCCCCTCCCGCCC CCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCTCCCC GCCTCCTCCCCCTCCCGCCCCCACGCCTCCTCCCCCTCCCGCCTCCCCGC CTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCT CCCCCTGCCGCCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(312): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGGGATT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0016 a0001c0001t0042g0016	1	182	0.0055	319	c.100 others(338): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC39A11_chr17_72640949_73097688	72700021	A A	ATAGATCA others(312): Show ATAGATCAGGGGTTCCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG03041.hp1 others(1): Show HG02109.hp1 HG02451.hp1 HG03041.hp1 HG03098.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0007 others(1): Show a0001c0001 a0002c0002 a0003c0007 a0005c0013	a0001c0001t0012 a0002c0002t0018 a0003c0007t0003 others(1): Show a0001c0001t0012 a0002c0002t0018 a0003c0007t0003 a0005c0013t0001	a0001c0001t0012g0138 a0002c0002t0018g0077 a0003c0007t0003g0073 others(1): Show a0001c0001t0012g0138 a0002c0002t0018g0077 a0003c0007t0003g0073 a0005c0013t0001g0130	4	180	0.0222	319	c.671 others(338): Show c.671+36628_671+36629insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAGGAACCCCTGATCTA	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	7/9			chr17	TogoVar
SLC4A4_chr4_71182259_71577083	71333881	T T	TGCCAGGC others(312): Show TGCCAGGCCTGGGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCG	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA20905.hp1 HG03239.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0092 a0001c0002t0003g0137 a0001c0001t0001g0092 a0001c0002t0003g0137	2	152	0.0132	319	c.254 others(336): Show c.254-5472_254-5471insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCAGGCCTGGGTTTCT	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC9A3_chr5_465456_529449	505462	T T	TTGGGGGG others(312): Show TTGGGGGGTGGAGAGTGACCACAGAGGGGAGAGTGACTGTGGGGGGGTGG GGAGTGACCACGGGGGGAGAGTGACTGGGGGGGTGGGGTGGGGAGTGACC ACGGAGGTGAGAGTGACTGTGGGGGGGTGGGGAGTGACCATGGAAGGGGG AGAGTGACTGTTGGGGGGTGGAGAGTGACCACAGAGGGGAGAGTGACTGT GGGGGGGTGGGGAGTGACCACGGGGGGAGAGTGACTGGGGGGGTGGGGTG GGGAGTGACCACGGAGGTGAGAGTGACTGTGGGGGGGTGGGGAGTGACCA TGGAAGGGGGAGAGTGACTG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0174 a0002c0002t0003g0174	1	218	0.0046	319	c.212 others(338): Show c.212-13392_212-13391insCAGTCACTCTCCCCCTTCCATGGTCA CTCCCCACCCCCCCACAGTCACTCTCACCTCCGTGGTCACTCCCCACCCC ACCCCCCCAGTCACTCTCCCCCCGTGGTCACTCCCCACCCCCCCACAGTC ACTCTCCCCTCTGTGGTCACTCTCCACCCCCCAACAGTCACTCTCCCCCT TCCATGGTCACTCCCCACCCCCCCACAGTCACTCTCACCTCCGTGGTCAC TCCCCACCCCACCCCCCCAGTCACTCTCCCCCCGTGGTCACTCCCCACCC CCCCACAGTCACTCTCCCCTCTGTGGTCACTCTCCACCCCCCA	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLCO1C1_chr12_20690332_20758386	20755736	T T	TAGTTCTT others(312): Show TAGTTCTTTATTATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTA GCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0073 a0005c0019t0002g0073	1	296	0.0034	319	c.32 others(330): Show c.3208_*3209insAGTTCTTTATTATTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCT AATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding		2351		chr12	TogoVar
SLCO1C1_chr12_20690332_20758386	20755736	T T	TAGTTCTT others(312): Show TAGTTCTTTATTTTATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTA GCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG03041.hp2 HG00099.hp1 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0002 a0001c0002t0002 a0001c0005t0002	a0001c0002t0002g0164 a0001c0005t0002g0042 a0001c0002t0002g0164 a0001c0005t0002g0042	2	296	0.0068	319	c.32 others(330): Show c.3208_*3209insAGTTCTTTATTTTATTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCT AATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding		2351		chr12	TogoVar
SLCO1C1_chr12_20690332_20758386	20755736	T T	TAGTTCTT others(312): Show TAGTTCTTTATTTTTATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTA GCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 NA18962.hp1 HG02300.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0011 a0001c0002t0002 a0001c0002t0011	a0001c0002t0002g0246 a0001c0002t0011g0083 a0001c0002t0002g0246 a0001c0002t0011g0083	2	296	0.0068	319	c.32 others(330): Show c.3208_*3209insAGTTCTTTATTTTTATTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCT AATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding		2351		chr12	TogoVar
SLCO1C1_chr12_20690332_20758386	20755736	T T	TAGTTCTT others(312): Show TAGTTCTTTATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTA GCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00558.hp1 others(96): Show HG00280.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02280.hp2 HG02486.hp1 HG02602.hp1 HG02735.hp1 HG02896.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04184.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18944.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18991.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp2 NA19058.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0001c0008 others(4): Show a0001c0002 a0001c0005 a0001c0008 a0001c0009 a0001c0018 a0001c0022 a0002c0010	a0001c0002t0002 a0001c0005t0002 a0001c0008t0002 others(4): Show a0001c0002t0002 a0001c0005t0002 a0001c0008t0002 a0001c0009t0002 a0001c0018t0002 a0001c0022t0002 a0002c0010t0002	a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0030 others(94): Show a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0030 a0001c0002t0002g0034 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0044 a0001c0002t0002g0046 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0057 a0001c0002t0002g0063 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0077 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0098 a0001c0002t0002g0100 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0124 a0001c0002t0002g0127 a0001c0002t0002g0140 a0001c0002t0002g0143 a0001c0002t0002g0145 a0001c0002t0002g0149 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0165 a0001c0002t0002g0171 a0001c0002t0002g0181 a0001c0002t0002g0183 a0001c0002t0002g0189 a0001c0002t0002g0206 a0001c0002t0002g0212 a0001c0002t0002g0222 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0244 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0265 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0270 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0279 a0001c0002t0002g0282 a0001c0002t0002g0284 a0001c0005t0002g0043 a0001c0005t0002g0047 a0001c0005t0002g0064 a0001c0005t0002g0095 a0001c0005t0002g0108 a0001c0005t0002g0184 a0001c0005t0002g0193 a0001c0005t0002g0224 a0001c0005t0002g0254 a0001c0005t0002g0269 a0001c0005t0002g0281 a0001c0008t0002g0217 a0001c0008t0002g0218 a0001c0008t0002g0227 a0001c0008t0002g0236 a0001c0009t0002g0085 a0001c0009t0002g0097 a0001c0009t0002g0125 a0001c0018t0002g0214 a0001c0022t0002g0115 a0002c0010t0002g0219 a0002c0010t0002g0220	99	296	0.3345	319	c.32 others(330): Show c.3208_*3209insAGTTCTTTATTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCT AATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding		2351		chr12	TogoVar
SMARCC1_chr3_47580269_47786893	47741369	T T	TAAAAATT others(312): Show TAAAAATTATTGCTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	219	0.0046	319	c.402 others(336): Show c.402-3260_402-3259insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCTAGCAATAATTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	3/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47741369	T T	TAAAAATT others(312): Show TAAAAATTATTGCTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00544.hp2 others(66): Show HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01099.hp1 HG01123.hp1 HG01169.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02083.hp1 HG02135.hp2 HG02148.hp2 HG02280.hp1 HG02300.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02965.hp2 HG02970.hp2 HG03139.hp1 HG03540.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp1 NA18946.hp2 NA18952.hp1 NA18956.hp2 NA18967.hp1 NA18970.hp2 NA18997.hp2 NA18999.hp2 NA19004.hp1 NA19005.hp2 NA19012.hp1 NA19065.hp2 NA19079.hp2 NA19086.hp2 NA19088.hp1 NA19089.hp1 NA19091.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0012 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0001t0012 a0001c0002t0002 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014	a0001c0001t0002g0083 a0001c0001t0002g0090 a0001c0001t0002g0092 others(66): Show a0001c0001t0002g0083 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0012g0138 a0001c0002t0002g0085 a0001c0002t0002g0093 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0113 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0143 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0172 a0001c0002t0010g0103 a0001c0002t0013g0153 a0001c0002t0014g0219	69	219	0.3151	319	c.402 others(336): Show c.402-3260_402-3259insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCTAGCAATAATTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	3/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47741369	T T	TAAAAATT others(312): Show TAAAAATTATTGCTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0157 a0001c0002t0002g0157	1	219	0.0046	319	c.402 others(336): Show c.402-3260_402-3259insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCTAGCAATAATTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	3/27			chr3	TogoVar
SMKR1_chr7_129497531_129517918	129517320	T T	TAGAAAGT others(312): Show TAGAAAGTGGGAGAGAAGGCCAGGTGCAGTGGCTCACACCTGTATTCCCA GCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGGAGTTCCAG ACCAGCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATAAAAAAA TTAGCCAGGCATGGTGGCGTACACCTGTAATCCCAGCTACTCAGGAGGCC GAGGCAGAAGAATTGCTTGTACCTGGGAGGTAGATGTTGCAGTGAGCCAA GATTGTGCCATTGCACTCCAGCCTGGGCGACAGGAGGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG01496.hp1 others(10): Show HG00323.hp2 HG01070.hp1 HG01496.hp1 HG01928.hp2 HG01975.hp2 HG02293.hp2 HG02451.hp2 HG03017.hp2 HG03491.hp2 HG04184.hp1 NA18959.hp2 NA19055.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0078 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0040	13	422	0.0308	319	c.48 others(330): Show c.4879_*4880insAGAAAGTGGGAGAGAAGGCCAGGTGCAGTGGCTC ACACCTGTATTCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGA AGTCAGGAGTTCCAGACCAGCCTGGCTAACATGGTGAAACCCCATCTCTA CTAAAAATAAAAAAATTAGCCAGGCATGGTGGCGTACACCTGTAATCCCA GCTACTCAGGAGGCCGAGGCAGAAGAATTGCTTGTACCTGGGAGGTAGAT GTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCGACAGGA GGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		4403		chr7	TogoVar
SMKR1_chr7_129497531_129517918	129517320	T T	TAGAAAGT others(312): Show TAGAAAGTGGGAGAGAAGGCCAGGTGCAGTGGCTCACACCTGTATTCCCA GCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGGAGTTCCAG ACCAGCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAAA TTAGCCAGGCATGGTGGCGTACACCTGTAATCCCAGCTACTCAGGAGGCC GAGGCAGAAGAATTGCTTGTACCTGGGAGGTAGATGTTGCAGTGAGCCAA GATTGTGCCATTGCACTCCAGCCTGGGCGACAGGAGGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0002 a0006c0004t0001g0002	1	422	0.0024	319	c.48 others(330): Show c.4879_*4880insAGAAAGTGGGAGAGAAGGCCAGGTGCAGTGGCTC ACACCTGTATTCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGA AGTCAGGAGTTCCAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCTA CTAAAAATAAAAAAATTAGCCAGGCATGGTGGCGTACACCTGTAATCCCA GCTACTCAGGAGGCCGAGGCAGAAGAATTGCTTGTACCTGGGAGGTAGAT GTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCGACAGGA GGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		4403		chr7	TogoVar
SMKR1_chr7_129497531_129517918	129517320	T T	TAGAAAGT others(312): Show TAGAAAGTGGGAGAGAAGGCCAGGTGCAGTGGCTCACACCTGTATTCCCA GCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAAGTCAGGAGTTCCAG ACCAGCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAAA TTAGCCAGGCATGGTGGCGTACACCTGTAATCCCAGCTACTCAGGAGGCC GAGGCAGAAGAATTGCTTGTACCTGGGAGGTAGATGTTGCAGTGAGCCAA GATTGTGCCATTGCACTCCAGCCTGGGCGACAGGAGGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 NA18942.hp2 NA18989.hp1 others(1): Show HG03491.hp1 NA18942.hp2 NA18989.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0111	4	422	0.0095	319	c.48 others(330): Show c.4879_*4880insAGAAAGTGGGAGAGAAGGCCAGGTGCAGTGGCTC ACACCTGTATTCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGA AGTCAGGAGTTCCAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCTA CTAAAAATAAAAAAATTAGCCAGGCATGGTGGCGTACACCTGTAATCCCA GCTACTCAGGAGGCCGAGGCAGAAGAATTGCTTGTACCTGGGAGGTAGAT GTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCGACAGGA GGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		4403		chr7	TogoVar
SMYD3_chr1_245744347_246512279	245924988	T T	TAAGAAGT others(312): Show TAAGAAGTCTCGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCC GGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCACTTCCACCTGGGCCACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0114 a0002c0003t0002g0114	1	150	0.0067	319	c.702 others(336): Show c.702+2942_702+2943insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTGGCCCAGGTGGAAGTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCATCACGCCCGGCTAATT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAAGCGTGAGCCACCGCGCCCGGCCGAGACTTCTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	7/11			chr1	TogoVar
SNAP91_chr6_83547885_83714101	83636217	C C	CAAGACTG others(312): Show CAAGACTGGGTAAATTTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAACTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCCTCCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0312 a0001c0002t0001g0312	1	366	0.0027	319	c.765 others(336): Show c.765+4878_765+4879insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG GAGGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAGTTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCCAAAAATTTACCCAGTCTT	SNAP91	ENSG00000065609.15	transcript	ENST00000369694.7	protein_coding	8/29			chr6	TogoVar
SND1_chr7_127647194_128097593	127835603	T T	TAAAAGTA others(312): Show TAAAAGTAGGTATTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAATGGTGAAACCCCGTCTCTACTACAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0096 a0001c0004t0001g0096	1	262	0.0038	319	c.124 others(338): Show c.1243-8706_1243-8705insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTACAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTAGGTATTGG	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNX1_chr15_64090982_64149231	64118994	C C	CCCTTGCT others(312): Show CCCTTGCTATGTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0225 a0001c0002t0015g0225	1	270	0.0037	319	c.466 others(334): Show c.466+155_466+156insTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTTCCTTGCTATGTTTCT	SNX1	ENSG00000028528.15	transcript	ENST00000559844.6	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(312): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGT AGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0148 a0001c0001t0004g0148	1	380	0.0026	319	c.-13 others(336): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC CGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOCS7_chr17_38346844_38410593	38387650	A A	ATATATTG others(312): Show ATATATTGTATATTATATATACTATATATTGTATATATACTATATATTGT ATATTATATATACTATATAGTATAATATACAATATATAGTATATTATATA CTATATAGTATAATATACTATATACAGTATATTATATATACTATATACAG TATAATATATATACTATATACTGTATATTATATATACAATATACAGTATA TTATATATACAATATATAGTATATATAATATACAGTATATAGTATATATA ATATACAGTATATAGTATATATAATATACTATATATAGTATATATACATA TACTATATATGTTTATACTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0102 a0001c0002t0010g0102	1	289	0.0035	319	c.168 others(338): Show c.1682-7647_1682-7646insTATATATACTATATATTGTATATATA CTATATATTGTATATTATATATACTATATAGTATAATATACAATATATAG TATATTATATACTATATAGTATAATATACTATATACAGTATATTATATAT ACTATATACAGTATAATATATATACTATATACTGTATATTATATATACAA TATACAGTATATTATATATACAATATATAGTATATATAATATACAGTATA TAGTATATATAATATACAGTATATAGTATATATAATATACTATATATAGT ATATATACATATACTATATATGTTTATACTGTATATTGTATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOS1_chr2_38976549_39126051	39088183	C C	CATATCAG others(312): Show CATATCAGTGGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAA GCGTGAGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	246	0.0041	319	c.88- others(336): Show c.88-20431_88-20430insCCGGGCGCGGTGGCTCACGCTTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACCACTGATAT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39088183	C C	CATATCAG others(312): Show CATATCAGTGGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02280.hp2 NA19003.hp2 others(2): Show HG01981.hp1 HG02280.hp2 NA19003.hp2 NA19083.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0004 a0001c0002t0005	a0001c0001t0001g0152 a0001c0001t0005g0045 a0001c0002t0004g0003 others(2): Show a0001c0001t0001g0152 a0001c0001t0005g0045 a0001c0002t0004g0003 a0001c0002t0004g0037 a0001c0002t0005g0026	5	246	0.0203	319	c.88- others(336): Show c.88-20431_88-20430insCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACCACTGATAT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22			chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190256	T T	TATATATC others(312): Show TATATATCATTATATAACATATAATGATATATAATATATATCATTATATA ACATATAATGATATATAATATATATCATTATATAACATATAATGATATAT AATATATATCATTATATAACATATAATGATATATAATATATATCATTATA TAACATATAATGATATATAATATATATCATTATATAACATATAATGATAT ATAATATATATCATTATATAACATATAATGATATATATTATATAACATGA TGATATATAATATATATTATTATATAACATATGATGATATATAATATATA TTATTATATAACATATGATG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0115 a0001c0002t0007g0115	1	356	0.0028	319	c.-11 others(340): Show c.-112+29327_-112+29328insTATCATTATATAACATATAATGAT ATATAATATATATCATTATATAACATATAATGATATATAATATATATCAT TATATAACATATAATGATATATAATATATATCATTATATAACATATAATG ATATATAATATATATCATTATATAACATATAATGATATATAATATATATC ATTATATAACATATAATGATATATAATATATATCATTATATAACATATAA TGATATATATTATATAACATGATGATATATAATATATATTATTATATAAC ATATGATGATATATAATATATATTATTATATAACATATGATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA9_chr5_95653315_95687991	95658505	T T	TCTCTTTT others(312): Show TCTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCATGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTGTATTTTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0148 a0001c0001t0018g0148	1	380	0.0026	319	c.11 others(328): Show c.117_*118insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAAAA AAAAAAAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCAT GCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAG	SPATA9	ENSG00000145757.16	transcript	ENST00000274432.13	protein_coding	5/5	117		chr5	TogoVar
SPIRE2_chr16_89823475_89876319	89852561	T T	TCCCTCTC others(312): Show TCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCTCAC CCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCCGCATCCCCTGGCCC GTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTC CTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCA CCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGAT CCCATGGCCCGTCTTCCGTC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	356	0.0028	319	c.646 others(336): Show c.646-1724_646-1723insCCTCTCACCCCCCGGATCCCATGGCCCG TCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCCGCATCCCCTGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGAT CCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCC GTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTC CTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRP54_chr14_34977992_35034567	35009343	G G	GCCACACA others(312): Show GCCACACACATATTCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18989.hp2 NA19085.hp2 HG03834.hp2 NA18989.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0215 a0001c0001t0003g0226 a0001c0001t0003g0258 a0001c0001t0003g0215 a0001c0001t0003g0226 a0001c0001t0003g0258	3	396	0.0076	319	c.485 others(334): Show c.485+522_485+523insATTCTTTGTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCCACACACAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76050728	G G	GGGGAGTT others(312): Show GGGGAGTTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCT CGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18944.hp1 NA18957.hp2 others(1): Show HG02572.hp1 NA18944.hp1 NA18957.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0105 a0001c0001t0002g0118 others(1): Show a0001c0001t0002g0077 a0001c0001t0002g0105 a0001c0001t0002g0118 a0001c0001t0002g0131	4	365	0.0110	319	c.979 others(334): Show c.979-203_979-202insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAATAGAACTCCC	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	8/15			chr17	TogoVar
SRXN1_chr20_641615_658200	642300	G G	GCCCAGCG others(312): Show GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGTGGTGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	319	c.64 others(330): Show c.6413_*6414insGCCCCCCACCACAGGCAACTCCACCCCCGCTGGG CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCC ACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCC CCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCC CCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4314		chr20	TogoVar
STAM_chr10_17639151_17721824	17709963	G G	GCAGGATT others(312): Show GCAGGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	426	0.0024	319	c.138 others(338): Show c.1385+1026_1385+1027insTTTTTTTTTTTTTTTTTTTTTTTTGA GATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCAGGATTTTTTTTT	STAM	ENSG00000136738.15	transcript	ENST00000377524.8	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
STK17A_chr7_43578108_43632379	43585771	T T	TAAGGCTG others(312): Show TAAGGCTGTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0015 a0008c0012t0015	a0008c0012t0015g0224 a0008c0012t0015g0224	1	392	0.0026	319	c.206 others(336): Show c.206+2333_206+2334insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTGTGCT	STK17A	ENSG00000164543.7	transcript	ENST00000319357.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK33_chr11_8386870_8599228	8424809	A A	ATCCTTTG others(312): Show ATCCTTTGCCCACTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACGACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18956.hp2 NA18964.hp1 others(2): Show HG02818.hp2 NA18956.hp2 NA18964.hp1 NA18974.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0003g0106 a0001c0001t0004g0127 a0001c0001t0004g0138 others(2): Show a0001c0001t0003g0106 a0001c0001t0004g0127 a0001c0001t0004g0138 a0001c0001t0004g0143 a0001c0002t0001g0207	5	334	0.0150	319	c.114 others(340): Show c.1146+10684_1146+10685insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGTGGGCAAAGGA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	14/15			chr11	TogoVar
STRC_chr15_43594563_43623800	43621865	T T	TAACCGGT others(312): Show TAACCGGTTGCGGTGGCTCACGCCTCTAATCCGAGCACTTTGGGAGGCTG AGGCAGGCAGATCATGAGGTCAAGAGATTGAGACCATCCTGGCCAACATG GTGAAACCCTGTCTCTACTAAAAAATACAAAAAATTAGCTGGGCATGGTG GCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGC TTGAAACCGGAAGGCAGAGGTTGCACTGAGCCAAGATCCCACCACTGCAC TCCAGCCTGGGCAACAAGAGGGAAACTCTATCTCAAAAAAAAAAAACAAC AAAAAAGAACAGATGCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0034 a0002c0007t0001g0034	1	374	0.0027	319	c.-31 others(330): Show c.-3144_-3143insGGAGGCATCTGTTCTTTTTTGTTGTTTTTTTTTT TTGAGATAGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGGGA TCTTGGCTCAGTGCAACCTCTGCCTTCCGGTTTCAAGCGATTCTTCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCATGCCCAGCT AATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGA TGGTCTCAATCTCTTGACCTCATGATCTGCCTGCCTCAGCCTCCCAAAGT GCTCGGATTAGAGGCGTGAGCCACCGCAACCGGTT	STRC	ENSG00000242866.10	transcript	ENST00000450892.7	protein_coding		3066		chr15	TogoVar
SUCLG2_chr3_67369719_67659612	67639488	G G	GCCACCAT others(312): Show GCCACCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGACTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02717.hp1 HG02809.hp1 others(4): Show HG00738.hp1 HG02717.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG03453.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0016t0001	a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0002g0083 others(4): Show a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0003g0082 a0001c0001t0004g0086 a0001c0016t0001g0088	7	280	0.0250	319	c.84+ others(336): Show c.84+15014_84+15015insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGT CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGGTGG	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	1/10			chr3	TogoVar
SUFU_chr10_102498972_102638535	102637258	A A	ATATATAT others(312): Show ATATATATATAATATATATATTATATATTATATAACATATATTATATATA ATATATATATTATATATTATATAACTATATATTATATATAATATATATAT TATATATTATATAACTATATATTATATATAATATATATATTATATATTAT ATAACTATATATTATATATAATATATATATTATATATTATATAACTATAT ATTATATATAATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATAATATAACTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	268	0.0037	319	c.71 others(330): Show c.7103_*7104insTATATATATAATATATATATTATATATTATATAA CATATATTATATATAATATATATATTATATATTATATAACTATATATTAT ATATAATATATATATTATATATTATATAACTATATATTATATATAATATA TATATTATATATTATATAACTATATATTATATATAATATATATATTATAT ATTATATAACTATATATTATATATAATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATAATATAACTATATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3724		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(312): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT AATATAACTATATATTATATATAATATATATATTATATATAATATAACTA TATATTATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	268	0.0037	319	c.73 others(330): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATAATATAACTATATATTATATATAATATATATATTA TATATAATATAACTATATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(312): Show GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 NA18906.hp2 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0104 a0001c0002t0007g0160 a0001c0002t0007g0104 a0001c0002t0007g0160	2	268	0.0075	319	c.75 others(330): Show c.7501_*7502insATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(312): Show GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATATTATATATGATTATAAAATATAATTATATATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG02922.hp1 HG03130.hp2 HG00733.hp2 HG02922.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0135 a0001c0001t0001g0232 a0001c0001t0001g0124 a0001c0001t0001g0135 a0001c0001t0001g0232	3	268	0.0112	319	c.75 others(330): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATATTATATATGATTATAAAATATAATTATATAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(312): Show GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATATTATATATGATTATAAAATATAATTATATATATTAT ATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01069.hp1 HG01071.hp1 others(15): Show HG00280.hp1 HG01069.hp1 HG01071.hp1 HG01192.hp2 HG01255.hp2 HG01346.hp2 HG01358.hp1 HG02602.hp2 HG02965.hp1 HG03239.hp2 HG03704.hp2 HG03831.hp2 HG06807.hp2 NA18946.hp1 NA18955.hp1 NA18959.hp1 NA18995.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0021 a0001c0001t0001 a0001c0001t0014 a0001c0001t0021	a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0118 others(15): Show a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0014g0017 a0001c0001t0021g0153	18	268	0.0672	319	c.75 others(330): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATATTATATATGATTATAAAATAT AATTATATATATTATATATGATTATAAAATATAATTATATATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SULT1B1_chr4_69716167_69765620	69719752	T T	TAAGAAAA others(312): Show TAAGAAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGAGGTGGTGGACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATCGC ACCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0252 a0001c0001t0003g0252	1	408	0.0025	319	c.73 others(330): Show c.7335_*7336insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCA CTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGTCCACCACCTCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTAATTTTCTT	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1414		chr4	TogoVar
SVEP1_chr9_110360248_110584741	110373614	T T	TAGCAAGC others(312): Show TAGCAAGCCCTATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATC TCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0076 a0076	a0076c0088 a0076c0088	a0076c0088t0004 a0076c0088t0004	a0076c0088t0004g0069 a0076c0088t0004g0069	1	362	0.0028	319	c.106 others(340): Show c.10600+1753_10600+1754insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATC GCGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACATAGGGCTTGCT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	46/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110373614	T T	TAGCAAGC others(312): Show TAGCAAGCCCTATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGCGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATC TCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0026 a0026	a0026c0113 a0026c0113	a0026c0113t0004 a0026c0113t0004	a0026c0113t0004g0105 a0026c0113t0004g0105	1	362	0.0028	319	c.106 others(340): Show c.10600+1753_10600+1754insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATC GCGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACGCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACATAGGGCTTGCT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	46/47			chr9	TogoVar
SYN2_chr3_11999388_12197032	12095559	A A	AAAAAAAA others(312): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAACATTGGCCGGGCACGGTGGCT TACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAG GTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTAC TGAATATTAAAAAAAAAAAAAAAAGCCGGGCGTTGTGGCAGGTGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAG GTGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCG ACGCAGCAAGACTCCGTCTC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	264	0.0038	319	c.378 others(338): Show c.378-45078_378-45077insAAAAAAAAAAAAAACATTGGCCGGGC ACGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCG GATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCC CATCTCTACTGAATATTAAAAAAAAAAAAAAAAGCCGGGCGTTGTGGCAG GTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGA ACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCA GCCTGGGCGACGCAGCAAGACTCCGTCTCAAAAAAAAAAAAAA	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYTL3_chr6_158645054_158769871	158745253	C C	CAAAAACT others(312): Show CAAAAACTGTATCTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0049 a0003c0004t0001g0049	1	292	0.0034	319	c.856 others(334): Show c.856-210_856-209insCGGGCGCGGTGGCTCATGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAACTGTATCTAGGC	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TACR1_chr2_75041463_75204520	75160764	T T	TAAGACAT others(312): Show TAAGACATAACAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0214 a0001c0002t0002g0214	1	282	0.0036	319	c.389 others(338): Show c.389+37781_389+37782insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTCTGTTATGTCTT	TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	1/4			chr2	TogoVar
TAFA1_chr3_67999247_68550621	68531377	G G	GAAAGAGG others(312): Show GAAAGAGGGACAGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0156 a0001c0001t0017g0156	1	156	0.0064	319	c.260 others(336): Show c.260-7368_260-7367insGGGGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGGGACA	TAFA1	ENSG00000183662.12	transcript	ENST00000478136.6	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
TATDN1_chr8_124483498_124544085	124505882	A A	ATCGAAAT others(312): Show ATCGAAATCATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTTGCCCAGGCCGGACTGCGGACTGCAATGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	338	0.0030	319	c.517 others(336): Show c.517-1536_517-1535insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCATTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATGATTTCGA	TATDN1	ENSG00000147687.19	transcript	ENST00000276692.11	protein_coding	8/11			chr8	TogoVar
TBC1D9_chr4_140615782_140761385	140716324	C C	CAAAAAGT others(312): Show CAAAAAGTTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCTAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCTGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	298	0.0034	319	c.131 others(338): Show c.131-14711_131-14710insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTAGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAAAACTTTTT	TBC1D9	ENSG00000109436.8	transcript	ENST00000442267.3	protein_coding	1/20			chr4	TogoVar

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