Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
PCBP3_chr21_45638725_45947450	45927331	T T	TCCTCCCC others(359): Show TCCTCCCCTCCTGCCCTCCTCTCCTTCACTCTGCCTCCTCCCTCCCCTCC TCTCCTCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCTCTCCTCTCCCTC CCTCCCTCTCCCCCTACTTCCTCCCCTCCTGCCCTCCTCTCCCTCCCCTC CTGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCCCTCCCTCC CCCTCCTGCCTTCCTCTTCCTCCCTCTCCCTCCCTCTCCCCCCTCCTCCC TCCTCTCCTCTCTCCCCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCCTC TCCCCTCCCTCACTCTCCCCCTCCTCCCTCCTCTCCTCTCTCCCCTCCCT CACTCTCCCCCCTCCTC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	292	0.0034	366	c.718 others(383): Show c.718-2575_718-2574insGCCCTCCTCTCCTTCACTCTGCCTCCTC CCTCCCCTCCTCTCCTCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCTCT CCTCTCCCTCCCTCCCTCTCCCCCTACTTCCTCCCCTCCTGCCCTCCTCT CCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGT CCCTCCCTCCCCCTCCTGCCTTCCTCTTCCTCCCTCTCCCTCCCTCTCCC CCCTCCTCCCTCCTCTCCTCTCTCCCCTCCCTCCCTCTCCCCCTCCTCCC TCCTCTCCTCTCCCCTCCCTCACTCTCCCCCTCCTCCCTCCTCTCCTCTC TCCCCTCCCTCACTCTCCCCCCTCCTCCCTCCCCTCCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCYT1A_chr3_196229368_196292726	196250506	T T	TGCTGAGG others(359): Show TGCTGAGGCTGAGGATCAGATACACTATGCTGAGGTTGAGGACCAGATAC ACTATGCTGAGGCTGAGGATCAGATACACTATGCTGAGGACCAGATACAC TATGCTGAGGCTGAGGATCAGATACACTATGTTGAGGTTGAGGATCAGAT ACACCATGCTGAGGTTGAGGATCAGATACACTATGCTGAGGCTGAGGATC AGATACACTATGCTGAGGCTGAGGATCAGATATATTATGCCGAGGTTGAG GACCAGATACACTATGCTGAGGATCAGATACACTATGCTGAGGTTGAGGA CCAGATACACTATGCTGAGGATCAGATACACTATGCTGAGGCTGAGGATC AGATACACTATGCTGAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00621.hp1 others(19): Show HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG01346.hp2 HG01943.hp2 HG01978.hp2 HG02132.hp2 HG02148.hp1 HG02602.hp2 HG04115.hp2 HG04204.hp2 NA18939.hp2 NA18950.hp1 NA18978.hp2 NA18988.hp2 NA18989.hp1 NA19009.hp2 NA19010.hp1 NA19057.hp1 NA19060.hp2 NA19067.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0009 a0005c0008 a0001c0001 a0003c0009 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0017 a0001c0001t0023 a0003c0009t0003 a0005c0008t0003	a0001c0001t0001g0145 a0001c0001t0001g0157 a0001c0001t0002g0172 others(19): Show a0001c0001t0001g0145 a0001c0001t0001g0157 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0014g0160 a0001c0001t0014g0161 a0001c0001t0014g0162 a0001c0001t0014g0179 a0001c0001t0017g0152 a0001c0001t0023g0170 a0001c0001t0023g0171 a0003c0009t0003g0149 a0005c0008t0003g0147	22	310	0.0710	366	c.218 others(383): Show c.218-2184_218-2183insCTCAGCATAGTGTATCTGATCCTCAGCC TCAGCATAGTGTATCTGATCCTCAGCATAGTGTATCTGGTCCTCAACCTC AGCATAGTGTATCTGATCCTCAGCATAGTGTATCTGGTCCTCAACCTCGG CATAATATATCTGATCCTCAGCCTCAGCATAGTGTATCTGATCCTCAGCC TCAGCATAGTGTATCTGATCCTCAACCTCAGCATGGTGTATCTGATCCTC AACCTCAACATAGTGTATCTGATCCTCAGCCTCAGCATAGTGTATCTGGT CCTCAGCATAGTGTATCTGATCCTCAGCCTCAGCATAGTGTATCTGGTCC TCAACCTCAGCATAGTGTATCTGATCCTCAGCCTCAGC	PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	3/8			chr3	TogoVar
PGAP6_chr16_365788_386978	370378	C C	CGGCACTC others(359): Show CGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCC CCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGG CCCCCGGCACTCACCCCCTAACCCCGGCCCCCGGCTCTCACCTCCTACCC CGGCCCCCGGCTCTCACCTCCTACCCCTGCCCCCGGCTCTCACCCCCTAC CCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01099.hp1 HG01243.hp2 others(4): Show HG00099.hp1 HG01099.hp1 HG01243.hp2 HG01346.hp2 HG02602.hp2 HG03017.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0021 a0002c0002t0003 a0002c0002t0021	a0002c0002t0003g0005 a0002c0002t0021g0112 a0002c0002t0003g0005 a0002c0002t0021g0112	7	376	0.0186	366	c.16 others(377): Show c.1608_*1609insCCGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCAGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGC CGGGGGCCGGGGTTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAG AGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTG AGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCC	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		409		chr16	TogoVar
PGAP6_chr16_365788_386978	378516	T T	TGCCATCC others(359): Show TGCCATCCCCACCCGCACTGCCATCGCCACCCGCACTGCCATCGCCACCC GCACTGCCATCCCCACCCGCACTGCCATCGCCACCCTGACTGCCATCGCC ACCCACAATGCCATCCCCACCCGCACTGCCATCGCCACCCACAATGCCAT CCCCACCCGCACTGCCATCGCCACCCTGACTGCCATCGCCACCCACACTG CCATCCCCACCCGCACTGCCATCGCCACCCTGACTGCCATCGCCACCCAC AATGCCATCCCCACCCGCACTGCCATCGCCACCCGCACTGCCATCCCCAC CCGCACTGCCATCGCCACCCGCACTGCCATCGCCACCCGCACTGCCATCG CCACCCGCACTGCCATC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0172 a0002c0002t0003g0172	1	376	0.0027	366	c.122 others(381): Show c.122-669_122-668insGATGGCAGTGCGGGTGGCGATGGCAGTGCG GGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAG TGCGGGTGGCGATGGCAGTGCGGGTGGGGATGGCATTGTGGGTGGCGATG GCAGTCAGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAGTGTGGGTGGC GATGGCAGTCAGGGTGGCGATGGCAGTGCGGGTGGGGATGGCATTGTGGG TGGCGATGGCAGTGCGGGTGGGGATGGCATTGTGGGTGGCGATGGCAGTC AGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAGTGCGGGTGGCGATGGC AGTGCGGGTGGCGATGGCAGTGCGGGTGGGGATGGC	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PGC_chr6_41731711_41752397	41738156	A A	ACATATAT others(359): Show ACATATATATATGCATATATATATGCATATATATATACATATATATATGC ATATATATATACATATATATGCATATATATATACATATATATATGCATAT ATATATACATATATATATGCATATATATACATATATATATGCATATATAT ATACATATATATATGCATATATATATACATATATATATGCATATATATAT ACATATATATATGCATATATATATATGCATATATATATACATATATATAT GCATATATATATACATATATATATGCATATATATATACATATATATGCAT ATATATATACATATATATGCATATATATATACATATATATATGCATATAT ATATACATATATATATG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	464	0.0022	366	c.916 others(381): Show c.916-329_916-328insCATATATATATGTATATATATATGCATATA TATATGTATATATATATGCATATATATGTATATATATATGCATATATATG TATATATATATGCATATATATATGTATATATATATGCATATATATATGTA TATATATATGCATATATATATATGCATATATATATGTATATATATATGCA TATATATATGTATATATATATGCATATATATATGTATATATATATGCATA TATATATGTATATATATGCATATATATATGTATATATATATGCATATATA TATGTATATATATATGCATATATATGTATATATATATGCATATATATATG TATATATATATGCATATATATATGCATATATATATG	PGC	ENSG00000096088.16	transcript	ENST00000373025.7	protein_coding	7/8			chr6	TogoVar
PJA2_chr5_109329722_109414974	109353940	A A	ATCTATAG others(359): Show ATCTATAGATTAGATAGATATCTAGAGATATCTATAGATTAGATATCTAT GATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATGTC TATAGATTAGATATCTATGATATCTAGAGATGTCTATAGATTAGATATCT ATGATGTCTAGAGATGTCTATAGATTAGATATCTATGATGTCTAGAGATT TCTATAGATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGATAT CTATGATGTCTAGAGATATCTATAGATTAGATATCTATGATGTCTAGAGA TATCTATAGATTAGATATCGATATCTAGAGATATCTATAGATTAGATATC TATGATATCTAGAGATT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0271 a0001c0001t0004g0271	1	346	0.0029	366	c.176 others(385): Show c.1764+1974_1764+1975insAATCTCTAGATATCATAGATATCTAA TCTATAGATATCTCTAGATATCGATATCTAATCTATAGATATCTCTAGAC ATCATAGATATCTAATCTATAGATATCTCTAGACATCATAGATATCTAAT CTATAGATATCTCTAGACATCATAGATATCTAATCTATAGAAATCTCTAG ACATCATAGATATCTAATCTATAGACATCTCTAGACATCATAGATATCTA ATCTATAGACATCTCTAGATATCATAGATATCTAATCTATAGACATCTCT AGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATC TAATCTATAGATATCTCTAGATATCTATCTAATCTATAGA	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PLEKHG4B_chr5_87168_194966	92360	C C	CGGGGGTG others(359): Show CGGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGG GCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGG GCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGG GCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGG TGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGT GGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTG GGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGG GTGGGGGCGCGGGGGTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0004 a0005c0008t0004	a0005c0008t0004g0001 a0005c0008t0004g0001	1	210	0.0048	366	c.45+ others(377): Show c.45+88_45+89insGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCG CCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCG CCGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCG CGGGGGTAGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGC GGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCG GGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGG GGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCCGG GGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCCGG others(359): Show GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGG GGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGG CGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGC GCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGC GGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(98): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00597.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01515.hp1 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18995.hp1 NA18995.hp2 NA19007.hp1 NA19012.hp2 NA19056.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19084.hp2 NA19088.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0014 a0021 a0025 a0034 a0039 a0040	a0001c0001 a0001c0002 a0001c0011 others(25): Show a0001c0001 a0001c0002 a0001c0011 a0001c0015 a0001c0037 a0001c0048 a0001c0049 a0001c0052 a0002c0003 a0002c0005 a0002c0039 a0003c0004 a0003c0009 a0003c0017 a0003c0044 a0003c0056 a0004c0006 a0004c0041 a0004c0043 a0005c0008 a0007c0010 a0007c0038 a0014c0013 a0021c0031 a0025c0055 a0034c0040 a0039c0047 a0040c0059	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(82): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0073 a0001c0001t0079 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0097 a0001c0001t0099 a0001c0001t0102 a0001c0001t0113 a0001c0002t0001 a0001c0002t0007 a0001c0002t0012 a0001c0002t0013 a0001c0002t0025 a0001c0002t0081 a0001c0002t0082 a0001c0002t0086 a0001c0002t0087 a0001c0002t0101 a0001c0011t0106 a0001c0015t0035 a0001c0037t0006 a0001c0048t0013 a0001c0049t0096 a0001c0052t0118 a0002c0003t0002 a0002c0003t0071 a0002c0003t0128 a0002c0003t0132 a0002c0003t0135 a0002c0003t0136 a0002c0005t0002 a0002c0005t0003 a0002c0005t0070 a0002c0005t0075 a0002c0005t0127 a0002c0005t0129 a0002c0039t0009 a0003c0004t0001 a0003c0004t0004 a0003c0004t0007 a0003c0004t0016 a0003c0004t0028 a0003c0004t0084 a0003c0004t0105 a0003c0004t0116 a0003c0004t0117 a0003c0009t0017 a0003c0009t0119 a0003c0009t0121 a0003c0017t0016 a0003c0017t0074 a0003c0044t0001 a0003c0056t0017 a0004c0006t0002 a0004c0006t0003 a0004c0006t0125 a0004c0041t0003 a0004c0043t0126 a0005c0008t0004 a0005c0008t0023 a0005c0008t0083 a0005c0008t0111 a0007c0010t0005 a0007c0010t0026 a0007c0010t0080 a0007c0010t0095 a0007c0038t0013 a0014c0013t0133 a0021c0031t0085 a0025c0055t0029 a0034c0040t0090 a0039c0047t0131 a0040c0059t0001	a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0005g0090 others(98): Show a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0005g0090 a0001c0001t0005g0123 a0001c0001t0006g0075 a0001c0001t0007g0056 a0001c0001t0012g0069 a0001c0001t0014g0033 a0001c0001t0014g0115 a0001c0001t0014g0125 a0001c0001t0015g0037 a0001c0001t0027g0052 a0001c0001t0027g0053 a0001c0001t0028g0046 a0001c0001t0031g0111 a0001c0001t0031g0112 a0001c0001t0032g0094 a0001c0001t0073g0107 a0001c0001t0079g0059 a0001c0001t0091g0120 a0001c0001t0092g0054 a0001c0001t0093g0105 a0001c0001t0097g0086 a0001c0001t0099g0089 a0001c0001t0102g0057 a0001c0001t0113g0044 a0001c0002t0001g0032 a0001c0002t0001g0074 a0001c0002t0007g0060 a0001c0002t0007g0083 a0001c0002t0012g0066 a0001c0002t0012g0072 a0001c0002t0013g0109 a0001c0002t0025g0073 a0001c0002t0081g0034 a0001c0002t0082g0126 a0001c0002t0086g0104 a0001c0002t0087g0040 a0001c0002t0101g0068 a0001c0011t0106g0085 a0001c0015t0035g0122 a0001c0037t0006g0045 a0001c0048t0013g0055 a0001c0049t0096g0063 a0001c0052t0118g0121 a0002c0003t0002g0098 a0002c0003t0002g0101 a0002c0003t0071g0095 a0002c0003t0128g0029 a0002c0003t0132g0028 a0002c0003t0135g0128 a0002c0003t0136g0071 a0002c0005t0002g0064 a0002c0005t0003g0031 a0002c0005t0003g0096 a0002c0005t0070g0100 a0002c0005t0075g0076 a0002c0005t0127g0124 a0002c0005t0129g0043 a0002c0039t0009g0030 a0003c0004t0001g0087 a0003c0004t0004g0036 a0003c0004t0007g0097 a0003c0004t0016g0078 a0003c0004t0028g0058 a0003c0004t0084g0041 a0003c0004t0105g0081 a0003c0004t0116g0103 a0003c0004t0117g0070 a0003c0009t0017g0088 a0003c0009t0017g0093 a0003c0009t0119g0049 a0003c0009t0121g0092 a0003c0017t0016g0110 a0003c0017t0074g0050 a0003c0044t0001g0116 a0003c0056t0017g0080 a0004c0006t0002g0051 a0004c0006t0002g0065 a0004c0006t0002g0119 a0004c0006t0003g0047 a0004c0006t0125g0048 a0004c0041t0003g0077 a0004c0043t0126g0099 a0005c0008t0004g0038 a0005c0008t0004g0061 a0005c0008t0023g0039 a0005c0008t0023g0062 a0005c0008t0083g0042 a0005c0008t0111g0091 a0007c0010t0005g0113 a0007c0010t0026g0035 a0007c0010t0080g0117 a0007c0010t0095g0106 a0007c0038t0013g0102 a0014c0013t0133g0118 a0021c0031t0085g0108 a0025c0055t0029g0079 a0034c0040t0090g0127 a0039c0047t0131g0067 a0040c0059t0001g0114	101	210	0.4810	366	c.45+ others(377): Show c.45+94_45+95insCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGT AGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGG GGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGG GCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCCGG others(359): Show GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGG GGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGG CGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGC GCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGTGGGTGGGGGCGC GGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0130 a0002c0003t0130	a0002c0003t0130g0130 a0002c0003t0130g0130	1	210	0.0048	366	c.45+ others(377): Show c.45+94_45+95insCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGT AGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGG GGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGG GTGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCCGG others(359): Show GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGG GGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGG CGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGC GCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGC GGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0004 a0004	a0004c0054 a0004c0054	a0004c0054t0034 a0004c0054t0034	a0004c0054t0034g0139 a0004c0054t0034g0139	1	210	0.0048	366	c.45+ others(377): Show c.45+94_45+95insCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGT AGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGG GGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGG GCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(359): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGGAGGGGAGGGG AGGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGG GGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGGGAGGGGAGGAGG GGGGGGGAGGGGAGGGGAGGAAGGGGGGGACGGCAGCGGCGGGCAGGGGA GCAGCGGGCGGGGCGGGGGAGGAGGGGAGGGTTAGGGGCGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGGGGAGGGGAG GAGGGAGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	354	0.0028	366	c.-27 others(375): Show c.-277_-276insTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCC CTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAA CCCTCCCCTCCTCCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCC GTCCCCCCCTTCCTCCCCTCCCCTCCCCCCCCCTCCTCCCCTCCCCCTCC CTCCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTC CCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCCGCCC CTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCGC CGCTCCCCTGCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PRSS33_chr16_2778953_2792560	2787264	C C	CTCACCCC others(359): Show CTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCT CATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCAT CCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCCC ATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTATC CTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTCA TCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCCCCTC CCTCATCCTTCACCCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTC ACCCCCTCCCTCATCCT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	386	0.0026	366	c.-58 others(381): Show c.-58+268_-58+269insAGGATGAGGGAGGGGGTGAAGGATGGGGGA GGGGGTGAAGGATGGGGGAGGGGGGTGAAGGATGAGGGAGGGGGGTGAAG GATGGGGGAGGGGGTGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAG TGAGGAGGAGGGGGCTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGG GTGAGGATGAGGGTGAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTG AGGATGAGGGAGGGGAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGG TGACGATGGGGGGGTGAAGGATGGAGGAGGGGTGATGAGAGAGGAGTGAG GATGAGGGAGGGGGTGAAGGATGAGGGAGGGGGTGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787268	C C	CCCCCTCC others(359): Show CCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCTCATC ACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCATCCTC ACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCCCATCC CTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTATCCTC ACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCTCCCTCATCCT CACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCCCTCCCCTC ATCCTTCACCCCCTCCCCCATCCTTCACACCCCCTCCCCCATCCTTCACC CCCTCCCTCATCCTTCA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0088 a0001c0004t0001g0088	1	386	0.0026	366	c.-58 others(381): Show c.-58+264_-58+265insTGAAGGATGAGGGAGGGGGTGAAGGATGGG GGAGGGGGTGTGAAGGATGGGGGAGGGGGTGAAGGATGAGGGGAGGGGGT GAAGGATGGGGGAGGGGGTGAGGATGAGACAGGGGTGAGGATGAGGGAGG GAGTGAGGAGGAGGGGGCTGAGGATGGAGGAGGGGGTGAGGATAGAGGAG GGGGTGAGGATGAGGGTGAGGACGAGGAGGGGTGAAGGGATGGGGGAGGG GGTGAGGATGAGGGAGGGGAGTGAGGAGGAAGGGGGTGAGGATGAGGGAG GGGGTGACGATGGGGGGGTGAAGGATGGAGGAGGGGTGATGAGAGAGGAG TGAGGATGAGGGAGGGGGTGAAGGATGAGGGAGGGG	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787331	C C	CCTTCACC others(359): Show CCTTCACCCCCCCATCGTCACCCCCTCCCTCATCCTCACCCCCTTCCTCC TCACTCCCCTCCCTCATCCTCACCCCCTCCCCCATCCTTCACCCCTCCTC GTCCTCACCCTCATCCTCACCCCCTCCTCTATCCTCACCCCCTCCTCCAT CCTCAGCCCCCTCCTCCTCACTCCCCTCCCTCATCCTCACCCCTGTCTCA TCCTCACCCCCTCCCCCATCCTTCACCCCCTCCCTCATCCTTCACCCCCT CCCCCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCTCATCCTTC ACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCTCAT CACCCCTCCTCCATCAT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	386	0.0026	366	c.-58 others(381): Show c.-58+201_-58+202insATGATGGAGGAGGGGTGATGAGAGAGGAGT GAGGATGAGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGATGAGGGA GGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAGGA TGAGGGAGGGGGTGAAGGATGGGGGAGGGGGTGAGGATGAGACAGGGGTG AGGATGAGGGAGGGGAGTGAGGAGGAGGGGGCTGAGGATGGAGGAGGGGG TGAGGATAGAGGAGGGGGTGAGGATGAGGGTGAGGACGAGGAGGGGTGAA GGATGGGGGAGGGGGTGAGGATGAGGGAGGGGAGTGAGGAGGAAGGGGGT GAGGATGAGGGAGGGGGTGACGATGGGGGGGTGAAG	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787350	A A	ACCCCCCT others(359): Show ACCCCCCTCCCTCATCCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATC CTCACCCCCTCCCCCATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTC ACCCCCTCCTCTATCCTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCT CACTCCCCTCCCTCATCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCA TCCTTCACCCCCTCCCTCATCCTTCACCCCCTCCCCCATCCTTCACCCCC TCCCCCATCCTTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTT CACCCCCTCCCTCATCCTCACTCCTCTCTCATCACCCCTCCTCCATCCTT CACCCCCCCATCGTCAC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	386	0.0026	366	c.-58 others(381): Show c.-58+182_-58+183insGTGACGATGGGGGGGTGAAGGATGGAGGAG GGGTGATGAGAGAGGAGTGAGGATGAGGGAGGGGGTGAAGGATGAGGGAG GGGGTGAAGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAGGAT GGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGGGT GAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTGAGGAGGAGGGGGC TGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGTGAGGATGAGGGTG AGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAGGATGAGGGAGGGG AGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGGG	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787350	A A	ACCCCCTC others(359): Show ACCCCCTCCCTCATCCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCC TCACCCCCTCCCCCATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCA CCCCCTCCTCTATCCTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTC ACTCCCCTCCCTCATCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCAT CCTTCACCCCCCTCCCTCATCCTTCACCCCCTCCCCCATCCTTCACCCCC TCCCCCATCCTTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTT CACCCCCTCCCTCATCCTCACTCCTCTCTCATCACCCCTCCTCCATCCTT CACCCCCCCATCGTCAC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	386	0.0026	366	c.-58 others(381): Show c.-58+182_-58+183insGTGACGATGGGGGGGTGAAGGATGGAGGAG GGGTGATGAGAGAGGAGTGAGGATGAGGGAGGGGGTGAAGGATGAGGGAG GGGGTGAAGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAGGAT GGGGGAGGGGGTGAAGGATGAGGGAGGGGGGTGAAGGATGGGGGAGGGGG TGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTGAGGAGGAGGGGG CTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGTGAGGATGAGGGT GAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAGGATGAGGGAGGG GAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGG	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PTPRH_chr19_55176247_55214501	55207934	T T	TAGGGGCT others(359): Show TAGGGGCTGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGG TCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGG TTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAG GGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGCCTGGGGGCCTG GGGGCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTG AGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGC TGGGGTCTGGACTCCTGGGTCTGAGGGAGTAGGGGCTGGGGGCCTGGATT CCTGGGTCTGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02486.hp2 HG01192.hp1 HG02486.hp2	a0005 a0012 a0005 a0012	a0005c0109 a0012c0037 a0005c0109 a0012c0037	a0005c0109t0001 a0012c0037t0004 a0005c0109t0001 a0012c0037t0004	a0005c0109t0001g0298 a0012c0037t0004g0297 a0005c0109t0001g0298 a0012c0037t0004g0297	2	378	0.0053	366	c.52- others(379): Show c.52-736_52-735insCCTCCCTCAGACCCAGGAATCCAGGCCCCCAG CCCCTACTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCA GACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGA GACCCCCAGCCCCTCCTCCCTCAGACCCAGGCCCCCAGGCCCCCAGGCCC TCCTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACT CAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGAGACC CCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCT CCCTCAGACCCAGGAATCCAGACCCCCAGCCCCT	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
RASA3_chr13_113972783_114137623	114044482	G G	GCACCCCC others(359): Show GCACCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTC GCTGAGCTCCCCCCCACGCCTCACTCGCTGAGCTCCCCCCCCCGCCTCAC TCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCT CACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCCCCG CCTCACTCGCTGAGCTCCCCCCCCCGCCTCACTCGCTGAGCTCCCCCCCC CGCCTCACTCGCTGAGCTCCCCCCCCCGCCTCACTCGCTGAGCCCCCCCG CCCCGCCTCACTCGCTGAGCCCCCCCGCCCCCCCCGCCCCGCCTCACTCG CTGAGCCCCCCCGCCCC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	67	0.0149	366	c.278 others(383): Show c.278-3389_278-3388insGGGGCGGGGGGGCTCAGCGAGTGAGGCG GGGCGGGGGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTC AGCGAGTGAGGCGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGGGGGGAGC TCAGCGAGTGAGGCGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGGGGGGG AGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGCGG GGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGG GGGGGAGCTCAGCGAGTGAGGCGTGGGGGGGAGCTCAGCGAGTGAGGCGG GGCGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGTG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114053109	C C	CGCTGACT others(359): Show CGCTGACTGTACTTAAAGTCCTTGCTCCCGGAGGAGAGGCCCCTGCTGCT GACTGCCCAGCCGCCCTTGCTCCTGGGGGAGAGGACCCCTCTGCTGACTG TGCTTAGAGTCCTGGCTCCTGGGGAAGAGACCCCCTCTGCTGACTGTGCT TAGAGTCCTGGCTCCTGGGGGAGAGACCCCCGCTGCTGACTGTACTTAGA GTCCTCACTACTGGGGGAGAGGCCCCCGCTGCTGACTGCCCAGCCGCCCT TGCTCCTGGGGGAGAGACCCCCGCTGCTGACTGTGCTTAGAGTCCTGGCT CCTGGGGGAGAGACCCCCGCTGCTGACTGTACTTAGAGTCCTCACTACTG GGGGAGAGGCCCCCGCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	67	0.0149	366	c.174 others(381): Show c.174-955_174-954insAGCGGGGGCCTCTCCCCCAGTAGTGAGGAC TCTAAGTACAGTCAGCAGCGGGGGTCTCTCCCCCAGGAGCCAGGACTCTA AGCACAGTCAGCAGCGGGGGTCTCTCCCCCAGGAGCAAGGGCGGCTGGGC AGTCAGCAGCGGGGGCCTCTCCCCCAGTAGTGAGGACTCTAAGTACAGTC AGCAGCGGGGGTCTCTCCCCCAGGAGCCAGGACTCTAAGCACAGTCAGCA GAGGGGGTCTCTTCCCCAGGAGCCAGGACTCTAAGCACAGTCAGCAGAGG GGTCCTCTCCCCCAGGAGCAAGGGCGGCTGGGCAGTCAGCAGCAGGGGCC TCTCCTCCGGGAGCAAGGACTTTAAGTACAGTCAGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23			chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79495482	A A	AGGAAGGT others(359): Show AGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGCA GAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGG GGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGG GGGAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGA AGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGG GTGGGGAGGTGGGGGCAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGT GCAGAGGGTGGGAAGGTGGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGG GAGGGGTGCAGAGGGTG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	154	0.0065	366	c.-31 others(387): Show c.-319-12885_-319-12884insCACCCTCTGCACCCCTCCCCCACC TCCCCACCCTCTGCACCCCTCCCCCCACCTTCCCACCCTCTGCACCCCTC CCCCACCTTCCCACCCTCTGCACCCCTGCCCCCACCTCCCCACCCTCTGC ACCCCTCCCCCACCTTCCCACCCTCTGCACCCCTCCCCCACCTTCCCACC CTCTGCACCCCTCCCCCACCTTCCCACCCTCTGCACCCCTCCCCCACCTT CCCACCCTCTGCACCCCTCCCCCACCTTCCCACCCTCTGCACCCCTCCCC CACCTTCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCCTCTGCACCC CTCCCCCACCTTCCCACCCTCTGCACCCCTCCCCCACCTTCC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RERE_chr1_8347404_8822640	8441930	T T	TCAATACA others(359): Show TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAGAGTGCTGGGACTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0146 a0001c0004t0006g0146	1	204	0.0049	366	c.120 others(387): Show c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG TAGTCCCAGCACTCTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTGTGTGTATTG	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	11/22			chr1	TogoVar
RFTN1_chr3_16310845_16518699	16403682	A A	ATATAATA others(359): Show ATATAATATATTTTATATATATTTTATATATATTATATATATTTTATATA TATAATATATAAATATAATATATAATATATATTTTATATATATTATATTA TATTTTTATATAATATATAATATATATTTTATATATATTTTATATATAAT ATATAATACATATTTTATATATATTTTATATATAATATATAATACATATT TTATATATATTTTATATATAATATATAATACATATTTTATATATATTTTA TATATAATATATAATACATATTTTATATATATTTTATATATAATATATAA TACATATTTTATATATATTTTATATATAATATATAATACATATTTTATAT ATATTTTATATATATTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0139 a0002c0003t0003g0139	1	268	0.0037	366	c.441 others(383): Show c.441+5692_441+5693insAAATATATATAAAATATATATAAAATAT GTATTATATATTATATATAAAATATATATAAAATATGTATTATATATTAT ATATAAAATATATATAAAATATGTATTATATATTATATATAAAATATATA TAAAATATGTATTATATATTATATATAAAATATATATAAAATATGTATTA TATATTATATATAAAATATATATAAAATATGTATTATATATTATATATAA AATATATATAAAATATATATTATATATTATATAAAAATATAATATAATAT ATATAAAATATATATTATATATTATATTTATATATTATATATATAAAATA TATATAATATATATAAAATATATATAAAATATATTATA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFX2_chr19_5988164_6115500	6079349	T T	TAAAAGGA others(359): Show TAAAAGGAACAAACGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	308	0.0033	366	c.-9+ others(383): Show c.-9+31043_-9+31044insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCGTTTGTTCCTTTT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RIPOR3_chr20_50581108_50696542	50666223	T T	TTTTCTTT others(359): Show TTTTCTTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTTCTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTCTTT TCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0076 a0006c0013t0001g0076	1	280	0.0036	366	c.3+2 others(381): Show c.3+24902_3+24903insGAAAAGAAAAGAAAAGAAAAGAAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAGAAAGAAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(359): Show AATATATATATTTAAATATATATATTTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATATATATTAATATATATTTAAAATATATATATTAAT ATATATATTTAAAGATATATATTAAATTATATATATTAAAATATGTATAT TAATATATATTTAAATTATATAATTTAAATATACATATTTAAAAATATAT ATATTTAAATATATATATTTTTAATATATATATTTTTAAATATATATATA TTTATATATATATTTTTAAATATATATATATATTTATATATATATTTTTA AATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0208	1	408	0.0025	366	c.182 others(383): Show c.182-2703_182-2702insTATATATATTTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATATTAATATATATTTAAAATATATAT ATTAATATATATATTTAAAGATATATATTAAATTATATATATTAAAATAT GTATATTAATATATATTTAAATTATATAATTTAAATATACATATTTAAAA ATATATATATTTAAATATATATATTTTTAATATATATATTTTTAAATATA TATATATTTATATATATATTTTTAAATATATATATATATTTATATATATA TTTTTAAATATATATATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF17_chr13_24759169_24884921	24881980	C C	CTAGATAG others(359): Show CTAGATAGATATATAGATACATCTAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATATATAGATACATCTAGATAGATATATAGATAC ATCTAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAG ATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATAT AGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATAC ATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAG ATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	426	0.0024	366	c.22 others(377): Show c.2254_*2255insTAGATAGATATATAGATACATCTAGATATATAGA TACATCTAGATAGATATATAGATACATCTAGATATATAGATACATCTAGA TAGATATATAGATACATCTAGATATATAGATACATCTAGATAGATATATA GATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACA TCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGA TAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATA TATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGA TACATCTAGATAGATATATAGATACATCTAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2060		chr13	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(359): Show GGAGGAGGAGGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGGGGAGGA GGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAG AAGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAA GAGGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGG AGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAG AAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	396	0.0025	366	c.807 others(383): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCC TCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTC CCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCCCT CCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCT CCCTCCCCCTCCCTCCCCCTCCCTCCTCCCTCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(359): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGAG AGGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGG GAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAAG GAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAGAA GGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGG AGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAG AAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0201 a0001c0002t0001g0201	1	396	0.0025	366	c.807 others(383): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTT CCTCTTCCTCTTCTTCCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCC CCTTCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCTCC CTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCTCTCCTCCCCCT CCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCT CCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SAMD11_chr1_918923_949574	934213	G G	GGCTGCGT others(359): Show GGCTGCGTTACTGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTG GGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTA CAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCTGCTCCGTTACAG GTGGGCGGGGGGGGGCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0011 a0011	a0011c0025 a0011c0025	a0011c0025t0003 a0011c0025t0003	a0011c0025t0003g0195 a0011c0025t0003g0196 a0011c0025t0003g0195 a0011c0025t0003g0196	2	434	0.0046	366	c.843 others(383): Show c.843-1556_843-1555insGCGTTACTGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG GGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGGCTGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934241	G G	GGCTGCGT others(359): Show GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTG GGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTA CAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCTGCTCCGTTACAG GTGGGCGGGGGGGGGCT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0188 a0001c0001t0003g0188	1	434	0.0023	366	c.843 others(383): Show c.843-1528_843-1527insGCGTTACAGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG GGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGGCTGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934525	G G	GCGTTACA others(359): Show GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCG GGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGGCTGCTCCGTTACAG GTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCG TTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCG GCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGG GGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGG GCGGGGGGGGGCTGCTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	434	0.0023	366	c.843 others(383): Show c.843-1224_843-1223insGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGG GGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGGCTGCTCCGTTACAGGT GGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTT ACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGG GGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGC GGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SATL1_chrX_85087284_85248779	85088071	C C	CGTATTAA others(359): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACGTATTAATACATATATGTATAAATACATACATATTTATACATATATG TATACATACATATTTATACATATATATGTATAAATACGTACATATTTATA CATATATATGTATAAATACATACGTATTTATACATATATATGTATAAATA CGTACATATTTATACATATATATGTATAAATACGTACATATTTATACATA TATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTA CATATTTATACATATATATGTATAAATACGTACATATTTATACATATATG TATAAATACGTACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0227	1	232	0.0043	366	c.43 others(377): Show c.4319_*4320insATATGTACGTATTTATACATATATGTATAAATAT GTACGTATTTATACATATATATGTATAAATATGTACGTATTTATACATAT ATATGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTAC GTATTTATACATATATATGTATAAATATGTACGTATTTATACATATATAT GTATAAATACGTATGTATTTATACATATATATGTATAAATATGTACGTAT TTATACATATATATGTATAAATATGTATGTATACATATATGTATAAATAT GTATGTATTTATACATATATGTATTAATACGTATTTATACATATATGTAT TAATACGTATTTATACATATATGTATTAATAC	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4212		chrX	TogoVar
SCNN1D_chr1_1275436_1297025	1288347	C C	CCGTGTCT others(359): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCATCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATCCC CCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0282 a0005c0017t0001g0282	1	290	0.0035	366	c.166 others(383): Show c.1662+311_1662+312insGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATCCCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCATCCCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288894	C C	CCTGCTCC others(359): Show CCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTC TGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTG TCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCC CCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	290	0.0035	366	c.166 others(383): Show c.1662+874_1662+875insCCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTG TCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTC TGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289073	C C	CCGTGTCT others(359): Show CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	290	0.0035	366	c.166 others(385): Show c.1662+1037_1662+1038insGTGTCTCTGCCCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCC GAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHANK1_chr19_50654255_50724802	50678865	G G	GTGGGAGG others(359): Show GTGGGAGGGGTCAGGGTGATGGGGAGGGGGTCAGGGTGTGGGGAGGGGGT CAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGG AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGTCAGGGTGAT GGGGAGGGTCAGGGTGTGGGGAGGGGTCAGGGTGGTGGGGAGGGGTCAGG GTGATGGGAAGGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGG TGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGG GTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATG GGGAGGGGTCAAGATGA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0205 a0002c0008t0003g0205	1	316	0.0032	366	c.257 others(385): Show c.2578-6752_2578-6751insTCATCTTGACCCCTCCCCATCACCCT GACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA TCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCC CTTACCTGTAATGCTTGTAACCCTGACCCCCTTCCCATCACCCTGACCCC TCCCCACCACCCTGACCCCTCCCCACACCCTGACCCTCCCCATCACCCTG ACCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCAC CCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCCTCC CCACACCCTGACCCCCTCCCCATCACCCTGACCCCTCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SIGIRR_chr11_400716_419999	410987	A A	AGGGGGGG others(359): Show AGGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGG TGCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGGTGCCCAGCTC TGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGG ATACAGTCGGTGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGG TGGGGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGG GGTGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGTGCTCAGC TCTGACCATGTCTGGATGCAGTCGGGGGGGGTGCCCAGCTCTGACCATGT CTCAATGCAGTCGGGGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	242	0.0041	366	c.-15 others(383): Show c.-153-961_-153-960insCCCCCGACTGCATTGAGACATGGTCAGA GCTGGGCACCCCCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCC CTCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCTCCCCGACT GTATCCAGACATGGTCAGAGCTGGGCACCACCCCCCCCACCGACTGTATC CAGACATGGTCAGAGCTGGGCACCCCCCACCGACTGTATCCAGACATGGT CAGAGCTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCAC CCCCCGCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCC GACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	410987	A A	AGGGGGGT others(359): Show AGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGGT GCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGGTGCCCAGCTCT GACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGA TACAGTCGGTGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGT GGGGGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGG GGTGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGTGCTCAGC TCTGACCATGTCTGGATGCAGTCGGGGGGGGTGCCCAGCTCTGACCATGT CTCAATGCAGTCGGGGG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	242	0.0041	366	c.-15 others(383): Show c.-153-961_-153-960insCCCCCGACTGCATTGAGACATGGTCAGA GCTGGGCACCCCCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCC CTCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCTCCCCGACT GTATCCAGACATGGTCAGAGCTGGGCACCACCCCCCCCCACCGACTGTAT CCAGACATGGTCAGAGCTGGGCACCCCCCACCGACTGTATCCAGACATGG TCAGAGCTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCA CCCCCCGCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCC CGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	410987	A A	AGGGGGGT others(359): Show AGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGGT GCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGGTGCCCAGCTCT GACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGA TACAGTCGGTGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGT GGGGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGGG GTGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGTGCTCAGCT CTGACCATGTCTGGATGCAGTCGGGGGGGGTGCCCAGCTCTGACCATGTC TCAATGCAGTCGGGGGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG01175.hp2 others(22): Show HG00544.hp2 HG00609.hp1 HG01175.hp2 HG01258.hp1 HG01358.hp1 HG01934.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02723.hp1 HG02895.hp1 HG02922.hp2 HG03579.hp1 HG03927.hp1 NA18612.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18951.hp2 NA18969.hp2 NA18980.hp2 NA18995.hp2 NA19043.hp1 NA19085.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 others(22): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0234	25	242	0.1033	366	c.-15 others(383): Show c.-153-961_-153-960insCCCCCCGACTGCATTGAGACATGGTCAG AGCTGGGCACCCCCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACC CCTCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCTCCCCGAC TGTATCCAGACATGGTCAGAGCTGGGCACCACCCCCCCCACCGACTGTAT CCAGACATGGTCAGAGCTGGGCACCCCCCACCGACTGTATCCAGACATGG TCAGAGCTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCA CCCCCCGCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCC CGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	410987	A A	AGGGGGGT others(359): Show AGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGGT GCCCAGCTCTGACCATGTCTGGATACAGTCGGCTGGGGGTGCCCAGCTCT GACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGA TACAGTCGGTGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGT GGGGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGGG GTGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGTGCTCAGCT CTGACCATGTCTGGATGCAGTCGGGGGGGGTGCCCAGCTCTGACCATGTC TCAATGCAGTCGGGGGG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	242	0.0041	366	c.-15 others(383): Show c.-153-961_-153-960insCCCCCCGACTGCATTGAGACATGGTCAG AGCTGGGCACCCCCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACC CCTCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCTCCCCGAC TGTATCCAGACATGGTCAGAGCTGGGCACCACCCCCCCCACCGACTGTAT CCAGACATGGTCAGAGCTGGGCACCCCCCACCGACTGTATCCAGACATGG TCAGAGCTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCA CCCCCAGCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCC CGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	410988	G G	GGGGGGTG others(359): Show GGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGGTG CCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGGTGCCCAGCTCTG ACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGAT ACAGTCGGTGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGTG GGGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGGGG TGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGTGCTCAGCTC TGACCATGTCTGGATGCAGTCGGGGGGGGTGCCCAGCTCTGACCATGTCT CAATGCAGTCGGGGGGT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	242	0.0041	366	c.-15 others(383): Show c.-153-962_-153-961insACCCCCCGACTGCATTGAGACATGGTCA GAGCTGGGCACCCCCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCAC CCCTCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCTCCCCGA CTGTATCCAGACATGGTCAGAGCTGGGCACCACCCCCCCCACCGACTGTA TCCAGACATGGTCAGAGCTGGGCACCCCCCACCGACTGTATCCAGACATG GTCAGAGCTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGC ACCCCCCGCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCTCC CCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SKI_chr1_2223319_2315213	2280735	G G	GGACGCCC others(359): Show GGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCC CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG ACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGG AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG CGGCGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGC GGCGATCTTCAGAGAGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0048 a0001c0010t0048	a0001c0010t0048g0052 a0001c0010t0048g0052	1	330	0.0030	366	c.970 others(385): Show c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGA GAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACG CCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT CTTCAGAGAGAAGACACGTGAGAAGACAGGCGGCGGCGGCGATCTTCAGA GAGAGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGA CGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SLC25A21_chr14_36672921_37177606	36789846	A A	ATTTAATA others(359): Show ATTTAATATTATATATATTTATATATATATTTATATATATTTATATATTT ATATATATTTATATATATATTTATATATATTTATATATTTATATATATTT ATATATAATATATTTTTATTATATATATATTTATATATATATAATATAAT ATATATATTATATATATAATATATATAAATATATTATATATATTATATAT ATAATATATTTATATATATTTATATATTATATATAATATATTTATATATA TATATATTATATATATAATATATTTATATATATTTATATATTTATATATA ATATATTTTTATATATTTTTATATAAATTTATATATATATTTTATATATA TTTATATATAAATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	164	0.0061	366	c.203 others(385): Show c.203+24071_203+24072insATATATTTATATATAAATATATATAA AATATATATATAAATTTATATAAAAATATATAAAAATATATTATATATAA ATATATAAATATATATAAATATATTATATATATAATATATATATATATAA ATATATTATATATAATATATAAATATATATAAATATATTATATATATAAT ATATATAATATATTTATATATATTATATATATAATATATATATTATATTA TATATATATAAATATATATATAATAAAAATATATTATATATAAATATATA TAAATATATAAATATATATAAATATATATATAAATATATATAAATATATA AATATATATAAATATATATATAAATATATATAATATTAAA	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SMIM36_chr17_55444856_55516452	55500981	T T	TATATTAT others(359): Show TATATTATATTTTATGATATATAATATACATTATATTTTATGATATATAA TATACATTATATTTTATGATATATAATATACATTATATTTTATGATATAT AATATACATTATATTTTATGATATATAATATACATTATATTTTATGATAT ATAATATACATTATATTTTATGATATATAATATACATTATATTTTATGAT ATATAATATACATTATATTTTATGATATATAATATACATTATATTTTATG ATATATAATATACATTATATTTTATGATATATAATATACATTATATTTTA TGATATATAATATACATTATATTTTATGATATATAATATACATTATATTT TATGATATATAATATAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0243 a0001c0001t0004g0243	1	340	0.0029	366	c.17 others(385): Show c.174+9897_*174+9898insGTATATTATATATCATAAAATATAAT GTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATA ATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATA TAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAA TATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAA AATATAATGTATATTATATATCATAAAATATAATGTATATTATATATCAT AAAATATAATGTATATTATATATCATAAAATATAATGTATATTATATATC ATAAAATATAATGTATATTATATATCATAAAATATAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMOC2_chr6_168436184_168672992	168594497	C C	CGAGCTCC others(359): Show CGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATCG CCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGG ATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTA GAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGTATCTTTCT AGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTC TAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTT CTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCAT CTTTCTAGAGGATCGCG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	180	0.0056	366	c.638 others(383): Show c.638-4295_638-4294insACGAGCATCTTTCTAGAGGATCGCCGAG CTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGATCTC CGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGA TGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGTATCTTTCTAGAGG ATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAG GATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGA GGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTC TAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(359): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAG GGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGG GGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGG GGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0241 a0002c0002t0001g0241	1	260	0.0039	366	c.138 others(385): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCC TCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCCTCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(359): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGGGGGGAGGGGAGGGGGAGGGGGGGGAGGG GAGGGGGAGGGGGGGGAGGGGAGGGGAGGGGGGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGGAGGGGGGGG AGGGGAGGGGAGGGGAGGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGA GGGGAGGGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGAGGGGGGGA GGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0188 a0002c0002t0001g0188	1	260	0.0039	366	c.138 others(385): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCCCT CCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCC TCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCT CCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCC CCCTCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807415	G G	GGAGGGGA others(359): Show GGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAG GAGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGGGGG GGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGGG GGGAGGGGAGGGGAGGGAGGGGGGGGAGGGGAGGGAGGGGAGGGGGGAGG GGAGGGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGAGGGA GGGGAGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0176 a0002c0002t0002g0176	1	260	0.0039	366	c.138 others(385): Show c.1384-5711_1384-5710insTCCCCTCCCCTCTCCCCTCCCTCCCC CCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCC TCCCCTCCCTCCCCTCCCCCCCCTCCCTCCCCTCCCCTCCCCCCCCTCCC CCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCCCTC CCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCTCCCCCTC CCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
STK38L_chr12_27239286_27330959	27241562	T T	TTATATAT others(359): Show TTATATATATTACATATATGACTCTGTGTAGTTATATATATTACATATAT GACTCTGTGTAGTTATATATATTACATATATGACTCTGTGTAGTTATATA TTACATATATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTA GTTATATATTACATATATGACTCTGTGTAGTTATATATATTACATATATG ACTCTGTGTAGTTATATATTACATATATGACTATGTGTAGTTATATATAT TACATATATGACTATGTGTAGTTATATATATTACATATATGACTATGTAT AGTTATATATATTACATATATGACTATGTATAGTTATATATATTACATAT ATGACTATGTATAGTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	374	0.0027	366	c.-27 others(377): Show c.-2782_-2781insTATATATATTACATATATGACTCTGTGTAGTTAT ATATATTACATATATGACTCTGTGTAGTTATATATATTACATATATGACT CTGTGTAGTTATATATTACATATATGACTCTGTGTAGTTATATATTACAT ATATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTAGTTATA TATATTACATATATGACTCTGTGTAGTTATATATTACATATATGACTATG TGTAGTTATATATATTACATATATGACTATGTGTAGTTATATATATTACA TATATGACTATGTATAGTTATATATATTACATATATGACTATGTATAGTT ATATATATTACATATATGACTATGTATAGTTA	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2723		chr12	TogoVar
TAF4_chr20_61969798_62070881	62057665	G G	GGGGGCCA others(359): Show GGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACA CCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGG AAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGG GGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCA GGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAG GACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGC CAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAGGC CACAGACAATGGGGCTC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0289 a0001c0002t0001g0289	1	314	0.0032	366	c.136 others(385): Show c.1360+6785_1360+6786insGAGCCCCATTGTCTGTGGCCTGGTGT GTAGGCCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGA GCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAG GTCTTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTA GACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGAGCC CCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTC TTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGAC CTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar

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