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
SLIT3_chr5_168656740_169306139	168755403	T T	TTCTTCCT others(311): Show TTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTCTCTC TCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT TCTCTCTCTCTTTCTCTCTTTCTCTTTCTCTCTCTCTCTCTCTCTCTTTC TCTCTTTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCCTCTTT CTCTCTTTCTCTCTTTCTC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0046 a0002c0046	a0002c0046t0013 a0002c0046t0013	a0002c0046t0013g0061 a0002c0046t0013g0061	1	132	0.0076	318	c.168 others(337): Show c.1686-1397_1686-1396insGAGAAAGAGAGAAAGAGAGAAAGAGG AGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAAAGAGAGAAAGAG AGAGAGAGAGAGAGAGAAAGAGAAAGAGAGAAAGAGAGAGAGAAAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAG AAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	16/35			chr5	TogoVar
SMARCC1_chr3_47580269_47786893	47741369	T T	TAAAAATT others(311): Show TAAAAATTATTGCTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18961.hp1 HG02698.hp1 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0112 a0001c0002t0002g0094 a0001c0002t0002g0112	2	219	0.0091	318	c.402 others(335): Show c.402-3260_402-3259insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCTAGCAATAATTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	3/27			chr3	TogoVar
SMKR1_chr7_129497531_129517918	129517320	T T	TAGAAAGT others(311): Show TAGAAAGTGGGAGAGAAGGCCAGGTGCAGTGGCTCACACCTGTATTCCCA GCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGGAGTTCCAG ACCAGCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATAAAAAAA TTAGCCAGGCATGGTGGCGTACACCTGTAATCCCAGCTACTCAGGAGGCC GAGGCAGAAGAATTGCTTGTACCTGGGAGGTAGATGTTGCAGTGAGCCAA GATTGTGCCATTGCACTCCAGCCTGGGCGACAGGAGGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	422	0.0047	318	c.48 others(329): Show c.4879_*4880insAGAAAGTGGGAGAGAAGGCCAGGTGCAGTGGCTC ACACCTGTATTCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGA AGTCAGGAGTTCCAGACCAGCCTGGCTAACATGGTGAAACCCCATCTCTA CTAAAAATAAAAAAATTAGCCAGGCATGGTGGCGTACACCTGTAATCCCA GCTACTCAGGAGGCCGAGGCAGAAGAATTGCTTGTACCTGGGAGGTAGAT GTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCGACAGGA GGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		4403		chr7	TogoVar
SMYD3_chr1_245744347_246512279	245924988	T T	TAAGAAGT others(311): Show TAAGAAGTCTCGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCC GGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCACTTCCACCTGGGCCACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0031 a0003c0010t0001g0031	1	150	0.0067	318	c.702 others(335): Show c.702+2942_702+2943insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTGGCCCAGGTGGAAGTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCATCACGCCCGGCTAATTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAAGCGTGAGCCACCGCGCCCGGCCGAGACTTCTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	7/11			chr1	TogoVar
SNAP91_chr6_83547885_83714101	83636217	C C	CAAGACTG others(311): Show CAAGACTGGGTAAATTTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAACTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCCTCCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0311 a0001c0002t0001g0311	1	366	0.0027	318	c.765 others(335): Show c.765+4878_765+4879insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGG AGGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAGTTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCAAAAATTTACCCAGTCTT	SNAP91	ENSG00000065609.15	transcript	ENST00000369694.7	protein_coding	8/29			chr6	TogoVar
SNTG2_chr2_945849_1372613	1221590	G G	GTCTCTGC others(311): Show GTCTCTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGT CTCTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCT CTGCCTCTGCCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTCTGT CTCTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTTGTCCCT CTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGT CCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCT GTCTCTGTCTCTCTCCGTC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0016 a0016	a0016c0034 a0016c0034	a0016c0034t0001 a0016c0034t0001	a0016c0034t0001g0146 a0016c0034t0001g0146	1	190	0.0053	318	c.719 others(337): Show c.719+12362_719+12363insTCTGCCTCTGTCTCTGCCTCTCTGTG TCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTT TGTCTCTGTCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTGCCTC TGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTGCC TCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTC TCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTC TCTGTCGCTGTCTCTGCCTCTGTCTCTGTCTCTCTCCGTCTC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX29_chr16_11971734_12579287	12198357	T T	TAAAAATG others(311): Show TAAAAATGTTAATAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGTGGCAGAGCTTGCAGTGAGCCGAGATC AGGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0080 a0001c0004t0080	a0001c0004t0080g0054 a0001c0004t0080g0054	1	176	0.0057	318	c.159 others(337): Show c.1596-1229_1596-1228insCCGGGCGCAGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGTGGCAGAGCTTGCAGTGAG CCGAGATCAGGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTAATAGG	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SOCS4_chr14_55022236_55054489	55022704	C C	CAAAAAAC others(311): Show CAAAAAACCTGTTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCCGGGCGTAGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0004 a0001c0001t0035g0004	1	394	0.0025	318	c.-49 others(329): Show c.-4987_-4986insAAAAAACCTGTTCAGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGTGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	SOCS4	ENSG00000180008.9	transcript	ENST00000555846.2	protein_coding		4531		chr14	TogoVar
SORCS2_chr4_7187538_7747827	7387843	C C	CATGCACA others(311): Show CATGCACACACATACAGGTACACAGAGATACACACATATGCACACATGCA CACACACATGCACACACATACAGATATACAGAGACACATGTACACACATG CACACACATACAGGTACACGGAGATACATATGCACACGCATACAGGCACA CAGAGATACACACATGCACACGCACACACATACAGATACACAGATACACA TGCACATACAGATACACAGAGATACACATGTGCACACATACAGGTATGCA GATACACATGCACATATGCACACGTGCACACACGCACACACATACAGATA CACAGAGACACATGTACAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00642.hp2 others(26): Show HG00099.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG01106.hp1 HG01109.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01891.hp2 HG02132.hp2 HG02293.hp1 HG02300.hp1 HG02717.hp2 HG02922.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03579.hp1 HG03579.hp2 HG04199.hp2 HG04228.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0011 a0016	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0014 a0001c0016 a0001c0017 a0001c0047 a0002c0004 a0003c0046 a0004c0007 a0004c0043 a0005c0008 a0006c0022 a0010c0040 a0011c0027 a0016c0019	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 others(25): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0050 a0001c0001t0057 a0001c0001t0072 a0001c0002t0001 a0001c0003t0008 a0001c0003t0019 a0001c0003t0052 a0001c0003t0064 a0001c0005t0001 a0001c0014t0019 a0001c0016t0001 a0001c0017t0005 a0001c0047t0071 a0002c0004t0003 a0003c0046t0001 a0004c0007t0001 a0004c0007t0015 a0004c0043t0037 a0005c0008t0001 a0005c0008t0013 a0006c0022t0039 a0010c0040t0004 a0011c0027t0002 a0016c0019t0018	a0001c0001t0003g0048 a0001c0001t0003g0098 a0001c0001t0008g0142 others(26): Show a0001c0001t0003g0048 a0001c0001t0003g0098 a0001c0001t0008g0142 a0001c0001t0009g0085 a0001c0001t0012g0047 a0001c0001t0050g0106 a0001c0001t0057g0094 a0001c0001t0072g0161 a0001c0002t0001g0123 a0001c0003t0008g0135 a0001c0003t0019g0023 a0001c0003t0052g0147 a0001c0003t0064g0005 a0001c0005t0001g0156 a0001c0014t0019g0139 a0001c0016t0001g0009 a0001c0017t0005g0056 a0001c0047t0071g0051 a0002c0004t0003g0095 a0003c0046t0001g0164 a0004c0007t0001g0026 a0004c0007t0015g0166 a0004c0043t0037g0058 a0005c0008t0001g0006 a0005c0008t0013g0155 a0006c0022t0039g0153 a0010c0040t0004g0024 a0011c0027t0002g0116 a0016c0019t0018g0027	29	168	0.1726	318	c.481 others(335): Show c.481-8410_481-8409insTATGCACACATGCACACACACATGCACA CACATACAGATATACAGAGACACATGTACACACATGCACACACATACAGG TACACGGAGATACATATGCACACGCATACAGGCACACAGAGATACACACA TGCACACGCACACACATACAGATACACAGATACACATGCACATACAGATA CACAGAGATACACATGTGCACACATACAGGTATGCAGATACACATGCACA TATGCACACGTGCACACACGCACACACATACAGATACACAGAGACACATG TACAGATGCACACACATACAGGTACACAGAGATACACACA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7387843	C C	CATGCACA others(311): Show CATGCACACACATACAGGTACACAGAGATACACACATATGCACACATGCA CACACACATGCACACACATACAGATATACAGAGACACATGTACACACATG CACACACATACAGGTACACGGAGATACATATGCACACGCATACAGGCACA CAGAGATACACACATGCACACGCACACACATACAGATACACAGATACACA TGCACATACAGATACACAGAGATACACATGTGCACACATACAGGTATGCA GATACACATGCACATATGCAGACGTGCACACACGCACACACATACAGATA CACAGAGACACATGTACAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03471.hp2 HG02615.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0018 a0001c0005t0042 a0001c0001t0018 a0001c0005t0042	a0001c0001t0018g0099 a0001c0005t0042g0157 a0001c0001t0018g0099 a0001c0005t0042g0157	2	168	0.0119	318	c.481 others(335): Show c.481-8410_481-8409insTATGCACACATGCACACACACATGCACA CACATACAGATATACAGAGACACATGTACACACATGCACACACATACAGG TACACGGAGATACATATGCACACGCATACAGGCACACAGAGATACACACA TGCACACGCACACACATACAGATACACAGATACACATGCACATACAGATA CACAGAGATACACATGTGCACACATACAGGTATGCAGATACACATGCACA TATGCAGACGTGCACACACGCACACACATACAGATACACAGAGACACATG TACAGATGCACACACATACAGGTACACAGAGATACACACA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724829	A A	ATAGCAGT others(311): Show ATAGCAGTACTGGTGGTGGTGGTGATGGTACTAATGATGATTATAGTGGA GGTGGTAGTGATGATGGTGACGTTGGTGTTGGTGATGGTGATGATGGTGG TGGTGGTGGTGATAATGGTGACAATGGTGGTGGTGATGGTGGTGGTGATG GTGATGGTGGTGATGATGGTGGTGGTGGTGACAATGGTGGTGGTGATGGT GGTGATAGGGTGGTGGTGATGGTGATAGTAGTGGTGGGAATGGATGGTGG TGGTGATGGTGATGGTGGTGGTGTTGGTGATGATGGTGGTGATAGTGCTG GTGAGGATGGTGATGGTGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0044 a0001c0036t0044	a0001c0036t0044g0022 a0001c0036t0044g0022	1	168	0.0060	318	c.261 others(335): Show c.2612-324_2612-323insAGCAGTACTGGTGGTGGTGGTGATGGTA CTAATGATGATTATAGTGGAGGTGGTAGTGATGATGGTGACGTTGGTGTT GGTGATGGTGATGATGGTGGTGGTGGTGGTGATAATGGTGACAATGGTGG TGGTGATGGTGGTGGTGATGGTGATGGTGGTGATGATGGTGGTGGTGGTG ACAATGGTGGTGGTGATGGTGGTGATAGGGTGGTGGTGATGGTGATAGTA GTGGTGGGAATGGATGGTGGTGGTGATGGTGATGGTGGTGGTGTTGGTGA TGATGGTGGTGATAGTGCTGGTGAGGATGGTGATGGTGGT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104807121	T T	TGGACTGT others(311): Show TGGACTGTTGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGACTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0094 a0001c0001t0004g0094	1	134	0.0075	318	c.628 others(337): Show c.628-35657_628-35656insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCCGGACTGTTGCTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SOS1_chr2_38976549_39126051	39088183	C C	CATATCAG others(311): Show CATATCAGTGGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAG CGTGAGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01361.hp2 HG02818.hp1 others(10): Show HG00597.hp2 HG01361.hp2 HG02818.hp1 HG02922.hp1 HG03831.hp1 HG03927.hp2 HG04199.hp1 NA18948.hp2 NA18953.hp2 NA18988.hp2 NA19000.hp2 NA19054.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0014	a0001c0001t0001g0011 a0001c0001t0001g0068 a0001c0001t0001g0075 others(10): Show a0001c0001t0001g0011 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0148 a0001c0001t0003g0101 a0001c0001t0003g0113 a0001c0001t0011g0183 a0001c0001t0014g0172	13	246	0.0529	318	c.88- others(335): Show c.88-20431_88-20430insCCGGGCGCGGTGGCTCACGCTTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAGAACCACTGATAT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39088183	C C	CATATCAG others(311): Show CATATCAGTGGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0034 a0001c0001t0021g0034	1	246	0.0041	318	c.88- others(335): Show c.88-20431_88-20430insCCGGGCGCGGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAGAACCACTGATAT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39088183	C C	CATATCAG others(311): Show CATATCAGTGGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01106.hp2 others(13): Show HG00738.hp2 HG01099.hp1 HG01106.hp2 HG01891.hp1 HG02818.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp2 NA18906.hp2 NA18952.hp1 NA18956.hp1 NA18982.hp1 NA18998.hp1 NA19012.hp2 NA19068.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 others(1): Show a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0016	a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0036 others(13): Show a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0036 a0001c0002t0004g0038 a0001c0002t0004g0040 a0001c0002t0005g0004 a0001c0002t0005g0027 a0001c0002t0005g0030 a0001c0002t0005g0031 a0001c0002t0005g0032 a0001c0002t0005g0063 a0001c0002t0005g0064 a0001c0002t0008g0015 a0001c0002t0008g0016 a0001c0002t0008g0017 a0001c0002t0016g0033	16	246	0.0650	318	c.88- others(335): Show c.88-20431_88-20430insCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAGAACCACTGATAT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22			chr2	TogoVar
SPATA17_chr1_217626344_217876696	217740158	A A	AGGCCTTT others(311): Show AGGCCTTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTGTTTTT TAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0105 a0002c0006t0001g0105	1	252	0.0040	318	c.396 others(335): Show c.396-1804_396-1803insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTT GTGTTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGGCCTTTCTTCTT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPEF2_chr5_35612863_35819611	35713834	A A	ATATTTTA others(311): Show ATATTTTATATATAGTATATATGTTATATATAGTATATATTTTATATATA GTATATATGTTATATATAGTATATATTTTATATATAGTATATATGTTATA TATAGTATATATTTTATATATAGTATATATGTTATATATAGTATATATTT TATATATAGTATATATGTTATATATAGTATTATGTATTTTATATATAGTA TATATGTTATATATAGTATTATGTATTTTATATATAGTATATATGTTATA TATAGTATTATGTATTTTATATATAGTATATATGTTATATATAGTATATA TGTTATATATAGTATTACG	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA20905.hp2 HG03710.hp1 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0036 a0001c0003t0001g0245 a0001c0003t0001g0036 a0001c0003t0001g0245	2	268	0.0075	318	c.291 others(335): Show c.2914+969_2914+970insGTTATATATAGTATATATTTTATATATA GTATATATGTTATATATAGTATATATTTTATATATAGTATATATGTTATA TATAGTATATATTTTATATATAGTATATATGTTATATATAGTATATATTT TATATATAGTATATATGTTATATATAGTATTATGTATTTTATATATAGTA TATATGTTATATATAGTATTATGTATTTTATATATAGTATATATGTTATA TATAGTATTATGTATTTTATATATAGTATATATGTTATATATAGTATATA TGTTATATATAGTATTACGTATTTTATATATAGTATATAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPIRE2_chr16_89823475_89876319	89852561	T T	TCCCTCTC others(311): Show TCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCTCAC CCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA19067.hp2 NA18998.hp1 NA19067.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0187 a0004c0004t0001g0205 a0004c0004t0001g0187 a0004c0004t0001g0205	2	356	0.0056	318	c.646 others(335): Show c.646-1724_646-1723insCCTCTCACCCCCCGGATCCCATGGCCCG TCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(311): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGG GAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGGGAGGGGAGGTGAGGGGCTGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	260	0.0039	318	c.138 others(337): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCAGCCCCTCACCTCCCCTCCCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(311): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGAGGGG AGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGG AGGGGGGGAGGGGAGGTGAGGGGCTGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	260	0.0039	318	c.138 others(337): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCAGCCCCTCACCTCCCCTCCCCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCC CTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(311): Show AGGGGAGGGGAGGGGAGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0142 a0003c0003t0001g0142	1	260	0.0039	318	c.138 others(337): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(311): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0143 a0003c0003t0002g0143	1	260	0.0039	318	c.138 others(337): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SRP54_chr14_34977992_35034567	35009343	G G	GCCACACA others(311): Show GCCACACACATATTCTTTGTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0233 a0001c0001t0003g0233	1	396	0.0025	318	c.485 others(333): Show c.485+522_485+523insATTCTTTGTTTTTTTTTTTTTTTTTTTGTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGT GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCCACACACAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	35009343	G G	GCCACACA others(311): Show GCCACACACATATTCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp1 HG01071.hp1 others(13): Show HG00609.hp1 HG00642.hp1 HG01071.hp1 HG02027.hp2 HG02071.hp2 HG03492.hp1 HG04199.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18970.hp1 NA18973.hp1 NA18979.hp1 NA18985.hp1 NA19001.hp1 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0003 a0001c0001t0006 a0001c0002t0003 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0002t0003 a0002c0004t0003	a0001c0001t0003g0188 a0001c0001t0003g0195 a0001c0001t0003g0204 others(13): Show a0001c0001t0003g0188 a0001c0001t0003g0195 a0001c0001t0003g0204 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0227 a0001c0001t0003g0230 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0252 a0001c0001t0006g0251 a0001c0002t0003g0187 a0001c0002t0003g0198 a0002c0004t0003g0220	16	396	0.0404	318	c.485 others(333): Show c.485+522_485+523insATTCTTTGTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGT GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCCACACACAT	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(311): Show GGGGAGTTCTATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTC GCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG00609.hp2 others(54): Show HG00099.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG01081.hp1 HG01081.hp2 HG01168.hp1 HG01175.hp2 HG01496.hp1 HG01928.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02056.hp1 HG02074.hp1 HG02145.hp2 HG02273.hp2 HG02280.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp2 HG02809.hp1 HG03486.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18961.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp2 NA18975.hp2 NA18986.hp1 NA19002.hp2 NA19005.hp2 NA19011.hp1 NA19030.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19074.hp2 NA19077.hp1 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0005 a0005c0007 a0001c0001 a0002c0005 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0002c0005t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0005t0002 a0005c0007t0001	a0001c0001t0001g0019 a0001c0001t0001g0303 a0001c0001t0002g0006 others(52): Show a0001c0001t0001g0019 a0001c0001t0001g0303 a0001c0001t0002g0006 a0001c0001t0002g0030 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0182 a0002c0005t0002g0337 a0002c0005t0002g0339 a0005c0007t0001g0028	57	365	0.1562	318	c.979 others(333): Show c.979-203_979-202insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAATAGAACTCCC	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	8/15			chr17	TogoVar
SRXN1_chr20_641615_658200	642300	G G	GGGCCCAG others(311): Show GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCC TGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	422	0.0024	318	c.64 others(329): Show c.6413_*6414insGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCC GCTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4314		chr20	TogoVar
SSH2_chr17_29620938_29935228	29649899	T T	TGAAGGTC others(311): Show TGAAGGTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0176 a0001c0001t0022g0176	1	232	0.0043	318	c.122 others(335): Show c.1226+754_1226+755insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGACCTTC	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	13/15			chr17	TogoVar
ST3GAL3_chr1_43702536_43936159	43743239	C C	CAAAACAG others(311): Show CAAAACAGAGCCCCCCTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCGCGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATGCAAAAAATTAGCCG GGCGTGGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	274	0.0037	318	c.118 others(335): Show c.118+6873_118+6874insCTCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCGCGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATGCAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAGAGCCCCC	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77003279	T T	TTAAAGTC others(311): Show TTAAAGTCTGTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	202	0.0050	318	c.262 others(337): Show c.262-40912_262-40911insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAGTCTGTTTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STAM_chr10_17639151_17721824	17709963	G G	GCAGGATT others(311): Show GCAGGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGGAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA19090.hp2 NA18991.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0085 a0001c0001t0001g0087	2	426	0.0047	318	c.138 others(337): Show c.1385+1026_1385+1027insTTTTTTTTTTTTTTTTTTTTTTTGAG ATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTTGTATTTTTAGGAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCAGGATTTTTTTTT	STAM	ENSG00000136738.15	transcript	ENST00000377524.8	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
STAM_chr10_17639151_17721824	17709963	G G	GCAGGATT others(311): Show GCAGGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00621.hp1 others(24): Show HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00735.hp2 HG01433.hp2 HG02027.hp1 HG02109.hp2 HG02293.hp1 HG02572.hp2 HG02895.hp2 HG03688.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18950.hp2 NA18953.hp1 NA18959.hp2 NA18966.hp1 NA18966.hp2 NA18979.hp2 NA18982.hp2 NA19000.hp2 NA19002.hp1 NA19010.hp2 NA19063.hp2 NA19077.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0004 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0016 a0001c0003t0001 a0001c0005t0001 a0002c0004t0001 a0003c0007t0001	a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0064 others(23): Show a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0002g0271 a0001c0001t0014g0131 a0001c0001t0016g0013 a0001c0003t0001g0122 a0001c0005t0001g0080 a0002c0004t0001g0114 a0003c0007t0001g0099	27	426	0.0634	318	c.138 others(337): Show c.1385+1026_1385+1027insTTTTTTTTTTTTTTTTTTTTTTTGAG ATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCAGGATTTTTTTTT	STAM	ENSG00000136738.15	transcript	ENST00000377524.8	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
STAM_chr10_17639151_17721824	17709963	G G	GCAGGATT others(311): Show GCAGGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	426	0.0024	318	c.138 others(337): Show c.1385+1026_1385+1027insTTTTTTTTTTTTTTTTTTTTTTTGAG ATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCAGGATTTTTTTTT	STAM	ENSG00000136738.15	transcript	ENST00000377524.8	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
STT3A_chr11_125587852_125628091	125618738	T T	TTGCATAT others(311): Show TTGCATATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp2 HG03540.hp2 others(2): Show HG01884.hp1 HG02559.hp2 HG03540.hp2 NA18906.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0001 a0002c0010t0001 a0001c0001t0001 a0002c0010t0001	a0001c0001t0001g0044 a0001c0001t0001g0153 a0001c0001t0001g0173 others(1): Show a0001c0001t0001g0044 a0001c0001t0001g0153 a0001c0001t0001g0173 a0002c0010t0001g0150	5	360	0.0139	318	c.196 others(335): Show c.1963+190_1963+191insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTGCATATTTTTTT	STT3A	ENSG00000134910.14	transcript	ENST00000392708.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
STX8_chr17_9245471_9580820	9429837	A A	ATATATAA others(311): Show ATATATAATATATTATATATAATATATTATGTATTATATATAATATACAT AATATATATAATATATTATATATATTATATATAATATATATTATATATTA TATATAATATATTATATATAATATATATAATATATATTATATATTATATA TAATATATTATATATAATATATATAATATATATTATATATATTATATATT ATATATAATATATTATATATTATATATATTATATATTATATAGAATATAT TATATATTATATATATAATATATTCTATATAATATATATTATATATTATA TATTATATATAATATATTC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	188	0.0053	318	c.542 others(337): Show c.542-51185_542-51184insGAATATATTATATATAATATATAATA TATAATATATATTATATAGAATATATTATATATATAATATATAATATATT CTATATAATATATAATATATATAATATATAATATATTATATATAATATAT AATATATATAATATATATTATATATATTATATATAATATATTATATATAA TATATAATATATATTATATATATTATATATAATATATTATATATAATATA TAATATATATTATATATAATATATATAATATATTATATATATTATGTATA TTATATATAATACATAATATATTATATATAATATATTATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
SUCLG2_chr3_67369719_67659612	67639488	G G	GCCACCAT others(311): Show GCCACCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0005 a0004c0005t0001g0005	1	280	0.0036	318	c.84+ others(335): Show c.84+15014_84+15015insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGGTGG	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	1/10			chr3	TogoVar
SUFU_chr10_102498972_102638535	102628856	T T	TAGAAAAG others(311): Show TAGAAAAGACAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	268	0.0037	318	c.136 others(337): Show c.1366-1199_1366-1198insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGACAG	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(311): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATAATATAACTATATATTATATATAATATATATATTATATAT AATATAACTATATATTATATATAATATATAATTATATATTATATAACTAT ATATTATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0103 a0001c0002t0007g0103	1	268	0.0037	318	c.73 others(329): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATAATATAACTATATATTATATATAAT ATATATATTATATATAATATAACTATATATTATATATAATATATAATTAT ATATTATATAACTATATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(311): Show GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATATTATATATGATTATAAAATATAATTATATATATTAT ATATGATTATAAAATATAATTAATATTATATATGATTATAAAATATAAAT TATATATGATTATAAAATATAATTATATATGATTATAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	268	0.0037	318	c.75 others(329): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATATTATATATGATTATAAAATAT AATTATATATATTATATATGATTATAAAATATAATTAATATTATATATGA TTATAAAATATAAATTATATATGATTATAAAATATAATTATATATGATTA TAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(311): Show GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATATTATATATGATTATAAAATATAATTATATATATTAT ATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	268	0.0037	318	c.75 others(329): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATATTATATATGATTATAAAATAT AATTATATATATTATATATGATTATAAAATATAATTATATATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(311): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATACACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACACGTGTGTATATATACACGT GTATATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGT GTGTATATATACACGTGTATATATATACGTGTGTGTATATATATACGTGT ATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0181 a0001c0002t0001g0181	1	392	0.0026	318	c.271 others(335): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTATA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATATACACGTGTATA TATACACACGTGTATATATATACACGTGTATATATACACACACGTATATA TATACACGTGTATATATACACACACGTATATATATACACGTGTATATATA CACACACGTATATATATACACGTGTATATATACACGTATATATATACACG TGTATATACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(311): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATACACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGT GTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGT ATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03942.hp1 HG01175.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0251 a0001c0002t0001g0250 a0001c0001t0004g0251 a0001c0002t0001g0250	2	392	0.0051	318	c.271 others(335): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATATACACGTGTATA TATACACACACGTATATATATACACGTGTATATATACACACACGTATATA TATACACGTGTATATATACACACACGTATATATATACACGTGTATATATA CACACACGTATATATATACACGTGTATATATACACGTATATATATACACG TGTATATACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(311): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATACACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGT GTGTATATATACACGTGTATATATATACGTGTGTGTATATATATACGTGT ATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG01167.hp1 others(4): Show HG00323.hp1 HG00642.hp2 HG01167.hp1 HG01169.hp1 HG01433.hp2 HG02683.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001	a0001c0001t0002g0179 a0001c0001t0008g0272 a0001c0002t0001g0007 others(3): Show a0001c0001t0002g0179 a0001c0001t0008g0272 a0001c0002t0001g0007 a0001c0002t0001g0180 a0001c0002t0001g0276 a0001c0002t0001g0307	7	392	0.0179	318	c.271 others(335): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTATA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATATACACGTGTATA TATACACACACGTATATATATACACGTGTATATATACACACACGTATATA TATACACGTGTATATATACACACACGTATATATATACACGTGTATATATA CACACACGTATATATATACACGTGTATATATACACGTATATATATACACG TGTATATACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456828	A A	ATACGTGT others(311): Show ATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATATATATAC ACGTATATATACACGTGTATATATATACGTGTGTGTATATATATACGTGT ATATATATACGTGTGTGTATATATATACGTGTATATATATACGTGTGTGT ATATATGTACGTGTATATATATACGTGTGTGTATATATGTACGTGTATAT ATATACGTGTGTGTATATATGTACGTGTATATATATACGTGTGTGTATAT ATGTACGTGTATATATATATACGTGTGTGTATATATGTACGTGTATATAT ATACGTGTGTGTATATATG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	2	392	0.0051	318	c.271 others(335): Show c.271-3780_271-3779insCATATATACACACACGTATATATATACA CGTACATATATACACACACGTATATATATATACACGTACATATATACACA CACGTATATATATACACGTACATATATACACACACGTATATATATACACG TACATATATACACACACGTATATATATACACGTACATATATACACACACG TATATATATACACGTATATATATACACACACGTATATATATACACGTATA TATATACACACACGTATATATATACACGTGTATATATACGTGTATATATA TACACGTATATATACACACACACGTATATATATACACGTA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SYN2_chr3_11999388_12197032	12095547	C C	CAAAAAAA others(311): Show CAAAAAAAAAAAAAAAAAAAAAAAAAACATCGGCCGGGCACGGTGGCTTA CGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGT CAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTG AATATTAAAAAAAAAAAAAAAAGCCGGGCGTTGTGGCAGGTGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGAC GCAGCAAGACTCCGTCTCA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0049 a0003c0003t0001g0049	1	264	0.0038	318	c.378 others(337): Show c.378-45078_378-45077insCATCGGCCGGGCACGGTGGCTTACGC CTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAG GAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGAAT ATTAAAAAAAAAAAAAAAAGCCGGGCGTTGTGGCAGGTGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACGCA GCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYN2_chr3_11999388_12197032	12095547	C C	CAAAAAAA others(311): Show CAAAAAAAAAAAAAAAAAAAAAAAAACATCGGCCGGGCACGGTGGCTTAC GCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTC AGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGA ATATTAAAAAAAAAAAAAAAAGCCGGGCGTTGTGGCAGGTGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGCG GAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACG CAGCAAGACTCCGTCTCAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	264	0.0038	318	c.378 others(337): Show c.378-45079_378-45078insCATCGGCCGGGCACGGTGGCTTACGC CTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAG GAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGAAT ATTAAAAAAAAAAAAAAAAGCCGGGCGTTGTGGCAGGTGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACGCA GCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNRG_chr17_37509807_37614418	37561913	T T	TAAAGAAT others(311): Show TAAAGAATGATGACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGTTAACAATGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19000.hp2 HG03831.hp2 NA19000.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0004 a0003c0004t0003 a0003c0004t0004	a0003c0004t0003g0123 a0003c0004t0004g0127 a0003c0004t0003g0123 a0003c0004t0004g0127	2	349	0.0057	318	c.148 others(335): Show c.1482-325_1482-324insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACATTGTTAACCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGTCATCATTCTTT	SYNRG	ENSG00000275066.5	transcript	ENST00000612223.5	protein_coding	11/21			chr17	TogoVar
TACR1_chr2_75041463_75204520	75160764	T T	TAAGACAT others(311): Show TAAGACATAACAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00735.hp2 HG01069.hp2 others(10): Show HG00423.hp2 HG00735.hp2 HG01069.hp2 HG01074.hp1 HG01109.hp1 HG02165.hp1 HG02886.hp1 HG03669.hp1 HG04199.hp1 NA18961.hp1 NA18966.hp1 NA19043.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0106 a0001c0001t0003g0172 a0001c0001t0015g0001 others(10): Show a0001c0001t0001g0106 a0001c0001t0003g0172 a0001c0001t0015g0001 a0001c0001t0028g0026 a0001c0002t0001g0194 a0001c0002t0001g0205 a0001c0002t0001g0212 a0001c0002t0001g0243 a0001c0002t0001g0245 a0001c0002t0001g0250 a0001c0002t0002g0274 a0001c0002t0003g0188 a0001c0002t0003g0234	13	282	0.0461	318	c.389 others(337): Show c.389+37781_389+37782insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTCTGTTATGTCTT	TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	1/4			chr2	TogoVar
TAFA1_chr3_67999247_68550621	68531377	G G	GAAAGAGG others(311): Show GAAAGAGGGACAGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0117 a0001c0001t0004g0117	1	156	0.0064	318	c.260 others(335): Show c.260-7368_260-7367insGGGGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAGGGACA	TAFA1	ENSG00000183662.12	transcript	ENST00000478136.6	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAPBP_chr6_33294694_33319078	33301259	T T	TAAGATGT others(311): Show TAAGATGTGTGTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCACCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAACCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0220 a0001c0001t0030g0220	1	385	0.0026	318	c.50 others(327): Show c.500_*501insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGTTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAACACACATCTT	TAPBP	ENSG00000231925.14	transcript	ENST00000434618.7	protein_coding	8/8	500		chr6	TogoVar
TC2N_chr14_91774746_91872536	91780905	T T	TAAAACAT others(311): Show TAAAACATTTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGAAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAACAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0087 a0001c0001t0020g0087	1	344	0.0029	318	c.21 others(329): Show c.2194_*2195insTTTTTTTTTTTGTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCTGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT TCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCTAAATGTTTT	TC2N	ENSG00000165929.13	transcript	ENST00000435962.7	protein_coding	12/12	2194		chr14	TogoVar

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