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
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(192): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCA TCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTC CCCCATCCCATCCCCCACCCCCATCCCCCATCCCCATCCCCCGTCCCCCG TCCCCCATCTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0144 a0001c0001t0003g0144	1	62	0.0161	199	c.757 others(214): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCATCCCC ATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCCATCCCCCG TCCCCATCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RNF169_chr11_74743849_74847413	74785211	A A	ATATATAT others(192): Show ATATATATATGATATATATATGATATATATATATGATATATATATGATAT ATATATATGATATATATGATATATATATATGATATATATATGATATATAT ATATGATATATATATGATATATATATATGATATATATATGATATATATAT ATGATATATATATGTTATATATATATGATATATATATGTTATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0160 a0001c0001t0008g0160	1	344	0.0029	199	c.503 others(216): Show c.503-4405_503-4404insATATATATATGATATATATATATGATAT ATATATGATATATATATATGATATATATGATATATATATATGATATATAT ATGATATATATATATGATATATATATGATATATATATATGATATATATAT GATATATATATATGATATATATATGTTATATATATATGATATATATATGT TATATATATATTATATATATG	RNF169	ENSG00000166439.6	transcript	ENST00000299563.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GGGCGGGG others(192): Show GGGCGGGGTGGAGTGGGGTGGGGTGGGGTGGGGTGGGGTGGGGCGGGGCC CGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGTCC CCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGCCCCCGACGCC GCTGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	88	0.0114	199	c.-36 others(214): Show c.-367+49_-367+50insGGGGTGGAGTGGGGTGGGGTGGGGTGGGGT GGGGTGGGGCGGGGCCCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTC GGCTGCGCCCGAGTCCCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGC GGCCGCCCCCGACGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCG CCCCCGCCGCCCCCGCGGC	RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPEL1_chr10_103240887_103253016	103251270	A A	ACCACCAC others(192): Show ACCACCACCAACCTCCACCACTCACCACCTCCACCACCACCACCACCACC ATCACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCAC ACCTCCACCACCACCTCACCACCACCACCACCACCTCCACCACCATCACC ACTCACCACCATCACCACCTCCACCATCACCACCACTCACCACCTCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0000 a0001c0001t0010g0000	1	374	0.0027	199	c.45 others(210): Show c.4587_*4588insCCACCACCAACCTCCACCACTCACCACCTCCACC ACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCATCAC CACCACCACCACCACACCTCCACCACCACCTCACCACCACCACCACCACC TCCACCACCATCACCACTCACCACCATCACCACCTCCACCATCACCACCA CTCACCACCTCCACC	RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding		3255		chr10	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATCCTTCC others(192): Show ATCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0139 a0003c0003t0005g0139	1	267	0.0037	199	c.-15 others(210): Show c.-1536_-1535insTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(192): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCG CGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCC CCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCC GCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	219	0.0046	199	c.-58 others(206): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCG CCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCG CCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCG CCCGCCCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCC ACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUNDC3B_chr7_87623398_87837296	87626568	G G	GTGTCATA others(192): Show GTGTCATATATATGTCATATATGTGTCATATATATGTCATATATGTGTCA TATATATGTCATATATATGTGTCATATATATGTCATATATATGTGTCATA TATATGTCATATATATGTGTCATATATATGTCATATATATGTGTCATATA TATGTCATATATATGTGTCATATATATGTCATATATATGTGTCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0009 a0001c0001t0072g0009	1	195	0.0051	199	c.-22 others(210): Show c.-2256_-2255insTGTCATATATATGTCATATATGTGTCATATATAT GTCATATATGTGTCATATATATGTCATATATATGTGTCATATATATGTCA TATATATGTGTCATATATATGTCATATATATGTGTCATATATATGTCATA TATATGTGTCATATATATGTCATATATATGTGTCATATATATGTCATATA TATGTGTCATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1829		chr7	TogoVar
SARDH_chr9_133658560_133743352	133668961	T T	TCTCTCTC others(192): Show TCTCTCTCCTTCCCTCTCCCCCACCCTCCCTCTCCCTCTCCCTCATTCTC CCTCAGCCTCCCTCTCCCTCTCCCTTCACCCTCCCTCTCCCTCTCCCTTC ACCCTCCCTCTCCCTTACCCTCCCTCTCCCTCGCCCTCCCTCTCCCCTCG CCCTCCCTCTCCCCTCACCCTCACCCTCCCTCTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0194 a0003c0003t0001g0194	1	252	0.0040	199	c.249 others(218): Show c.2495+1622_2495+1623insGAGAGGGAGGGTGAGGGAGAGGGAGG GTGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGCGAGGGAGA GGGAGGGTAAGGGAGAGGGAGGGTGAAGGGAGAGGGAGAGGGAGGGTGAA GGGAGAGGGAGAGGGAGGCTGAGGGAGAATGAGGGAGAGGGAGAGGGAGG GTGGGGGAGAGGGAAGGAGAGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78460784	C C	CTTTCTTT others(192): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0326 a0001c0001t0036g0326	1	330	0.0030	199	c.852 others(216): Show c.852+1422_852+1423insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCGB1C1_chr11_188078_199575	196510	C C	CTGGTGAG others(192): Show CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGG ACATGGTGAGGGGAGCATGGTGAGGGGACATGGGGGGGACCTTGGTGAGG AGGACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAACATGG GTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00597.hp1 others(56): Show HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00741.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01258.hp1 HG01358.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG02015.hp1 HG02056.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02818.hp2 HG03490.hp1 HG03710.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18947.hp1 NA18951.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18982.hp2 NA19000.hp1 NA19011.hp1 NA19043.hp1 NA19066.hp2 NA19077.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0002 a0001c0002t0002 a0002c0001t0002	a0001c0002t0002g0001 a0002c0001t0002g0001 a0001c0002t0002g0001 a0002c0001t0002g0001	59	319	0.1850	199	c.20 others(210): Show c.2060_*2061insTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGA GGACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGACATGGGG GGGACCTTGGTGAGGAGGACCTGGTGAGGGGACATGGTGAGGGGAGCATG GTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGAGG ACATGGGGGGGACCT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1936		chr11	TogoVar
SCYL2_chr12_100262177_100346715	100294428	G G	GGGGGGTG others(192): Show GGGGGGTGACCCCCCCACCTCCCTCCCGGACGGGCCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCA GGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGAGGCGGCTGGCCGGGCAGA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	130	0.0077	199	c.335 others(216): Show c.335+2772_335+2773insGTGACCCCCCCACCTCCCTCCCGGACGG GCCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACG GGGCAGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCAGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGAG GCGGCTGGCCGGGCAGAGGGG	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCYL2_chr12_100262177_100346715	100294428	G G	GGGGGGTG others(192): Show GGGGGGTGACCCCCCCCACCTCCCTCCCGGACGGGCCGGCTGGCCGGGCG GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCA GGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGAGGCGGCTGGCCGGGCAGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	130	0.0077	199	c.335 others(216): Show c.335+2772_335+2773insGTGACCCCCCCCACCTCCCTCCCGGACG GGCCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACG GGGCAGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCAGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGAG GCGGCTGGCCGGGCAGAGGGG	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SDK1_chr7_3296252_4274000	4146431	T T	TCTCAGAC others(192): Show TCTCAGACATGTGAGCATTGCATGACACACTTTCAGCCTCACAGCTGCTC TCTCAGACATGTGAGCATTGCATGACACACTTTCAGCCTCACAGCTGCTC TCTCAGACATGTGAGCATTGCATTCACACCTTCTGCCTCACACCTGCTCT CTCAGACATGTGAGCATTTCGTGACACACTTTCAGCCTCACACCTGCTCG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG02965.hp1 others(4): Show HG01167.hp1 HG01243.hp1 HG02965.hp1 HG03453.hp1 HG03471.hp2 HG03540.hp2 NA20300.hp2	a0001 a0004 a0009 others(3): Show a0001 a0004 a0009 a0010 a0015 a0024	a0001c0011 a0001c0072 a0004c0080 others(4): Show a0001c0011 a0001c0072 a0004c0080 a0009c0019 a0010c0082 a0015c0074 a0024c0023	a0001c0011t0039 a0001c0072t0065 a0004c0080t0014 others(4): Show a0001c0011t0039 a0001c0072t0065 a0004c0080t0014 a0009c0019t0074 a0010c0082t0001 a0015c0074t0042 a0024c0023t0030	a0001c0011t0039g0061 a0001c0072t0065g0027 a0004c0080t0014g0078 others(4): Show a0001c0011t0039g0061 a0001c0072t0065g0027 a0004c0080t0014g0078 a0009c0019t0074g0006 a0010c0082t0001g0076 a0015c0074t0042g0081 a0024c0023t0030g0113	7	114	0.0614	199	c.442 others(216): Show c.4423+516_4423+517insTCAGACATGTGAGCATTGCATGACACAC TTTCAGCCTCACAGCTGCTCTCTCAGACATGTGAGCATTGCATGACACAC TTTCAGCCTCACAGCTGCTCTCTCAGACATGTGAGCATTGCATTCACACC TTCTGCCTCACACCTGCTCTCTCAGACATGTGAGCATTTCGTGACACACT TTCAGCCTCACACCTGCTCGC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	29/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAAGAAAG others(192): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGA AGAAGAAAGAAAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAGAGGGAGGGAGGGAGGGAGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	20	0.0500	199	c.75- others(214): Show c.75-2165_75-2164insAGAAAGAAAGAAAGAAAGAAAGAAAGGAAA GAAAGAAAGAAAGAAAGAAGAAGAAAGAAAGAGAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAGGGAGGG AGGGAGGGAGGGAGGGGGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGSM2_chr17_2332501_2386054	2355098	A A	ACCCCATA others(192): Show ACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGGG ACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGCAGGGG CCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGGGA CCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGCAGGGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18990.hp2 NA19003.hp2 others(1): Show HG02602.hp1 NA18990.hp2 NA19003.hp2 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0052 a0001c0003t0001g0349 a0001c0003t0001g0376 others(1): Show a0001c0003t0001g0052 a0001c0003t0001g0349 a0001c0003t0001g0376 a0001c0003t0001g0377	4	231	0.0173	199	c.134 others(216): Show c.134-6495_134-6494insAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAA TCGGGGTGTAAGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAA TCGGGGTGTAAGGGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGAA TCGGGGTGTAAGGGTTGGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH3TC1_chr4_8194290_8246103	8230054	A A	ACCCCGCG others(192): Show ACCCCGCGTTGAACAGTCGAGGAGACCGGAGGCCAGGGGATGAGGATCAT GCTTCCCTGTCTCCCCACCCCGCGTTGAACAGTCGAGGAGACCGGGGGCC AGGGGATGAGGATCATGCTTCCCTGTCTCCCCACCCCGCGTTGAACAGTC GAGGAGACCGGAGGCCAGGGGATGAGGATCATGCTTCCCTGTCTCCCCAC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0157 a0002c0005t0002g0157	1	372	0.0027	199	c.295 others(218): Show c.2950+1430_2950+1431insGAGACCGGAGGCCAGGGGATGAGGAT CATGCTTCCCTGTCTCCCCACCCCGCGTTGAACAGTCGAGGAGACCGGGG GCCAGGGGATGAGGATCATGCTTCCCTGTCTCCCCACCCCGCGTTGAACA GTCGAGGAGACCGGAGGCCAGGGGATGAGGATCATGCTTCCCTGTCTCCC CACCCCCGCGTTGAACAGTCGAG	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHISA5_chr3_48462876_48509174	48486344	G G	GTATTATA others(192): Show GTATTATATATTATATAATATATAATATATAATGTATTATATATTATATA ATATATAATATATAATGTATTATATATTATATAATATATAATATATAATG TATTATATATTATATAATATATAATATATAATGTATTATATATTATATAA TATATAATATATAATATATAATACATTATTTATTATATAATATATAATAT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	226	0.0044	199	c.234 others(216): Show c.234-7088_234-7087insATATTATATATTATATAATAAATAATGT ATTATATATTATATATTATATATTATATAATATATAATACATTATATATT ATATATTATATAATATATAATACATTATATATTATATATTATATAATATA TAATACATTATATATTATATATTATATAATATATAATACATTATATATTA TATATTATATAATATATAATA	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SIGIRR_chr11_400716_419999	411272	G G	GGGGGGGG others(192): Show GGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGG TGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGTGCTCAGCTC TGACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTCT GGATACAGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0192 a0001c0004t0001g0192	1	238	0.0042	199	c.-15 others(218): Show c.-153-1246_-153-1245insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCCCCCCGACTGCA TCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCGACTGTATCCAGACAT GGTCAGAGCTGGGCACCCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411273	G G	GGGGGGGG others(192): Show GGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGG TGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGTGCTCAGCTC TGACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTCT GGATACAGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0193 a0001c0004t0001g0193	1	163	0.0061	199	c.-15 others(218): Show c.-153-1247_-153-1246insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCCCCCCGACTGCA TCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCGACTGTATCCAGACAT GGTCAGAGCTGGGCACCCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411273	G G	GGGGGGTG others(192): Show GGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGG TGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGTGCTCAGCTC TGACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTCT GGATACAGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00609.hp1 others(35): Show HG00544.hp2 HG00558.hp2 HG00609.hp1 HG01175.hp1 HG01934.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02257.hp1 HG02486.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp2 HG03579.hp1 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18966.hp2 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18986.hp2 NA19005.hp2 NA19009.hp1 NA19043.hp1 NA19066.hp1 NA19067.hp2 NA19079.hp1 NA19085.hp1 NA19088.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0187 a0004c0007t0001g0174	38	200	0.1900	199	c.-15 others(218): Show c.-153-1247_-153-1246insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCCCCCCGACTGCA TCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCGACTGTATCCAGACAT GGTCAGAGCTGGGCACCACCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411274	G G	GGGGGTGG others(192): Show GGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGGG TGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGTGCTCAGCTC TGACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTCT GGATACAGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18995.hp2 NA19067.hp1 NA18974.hp1 NA18995.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0171	3	213	0.0141	199	c.-15 others(218): Show c.-153-1248_-153-1247insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCCCCCCGACTGCA TCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCCGACTGTATCCAGACA TGGTCAGAGCTGGGCACCACCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411274	G G	GGGGGTGG others(192): Show GGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGGT GCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGGTGCTCAGCTC TGACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTCT GGATACAGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	211	0.0047	199	c.-15 others(218): Show c.-153-1248_-153-1247insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCCCCCCCGACTGC ATCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCGACTGTATCCAGACA TGGTCAGAGCTGGGCACCACCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	412698	C C	CCAGCTCT others(192): Show CCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGTGCTCAGCTCTGA CCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTCTGGA TGCAGTCGGGGAGGGGTGCTCAGCTCTGACCATGTCTGGATGCAGTCGGG GGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGCGGGGGGGGTGCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	238	0.0042	199	c.-15 others(218): Show c.-154+2124_-154+2125insAGCACCCCCCCCGCCCGACTGTATCC AGACATGGTCAGAGCTGGGCACCCCCCGACTGCATCCAGACATGGTCAGA GCTGAGCACCCCTCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACC TCCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCCCCCCGACT GCATCCAGACATGGTCAGAGCTG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC17A5_chr6_73588379_73658992	73601604	T T	TGCCGGGC others(192): Show TGCCGGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGCTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCC CGCCCAGCCAGACGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0117 a0002c0004t0001g0117	1	322	0.0031	199	c.126 others(218): Show c.1260-1164_1260-1163insGGGGGGCTGACCCCCCCACCTCCCTC CTGGACGGGGCGTCTGGCTGGGCGGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCAGGCGGGGTGCTGACCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAGCCCCCCACCTCCCTC CCGGACGGGGTGGCTGGCCCGGC	SLC17A5	ENSG00000119899.13	transcript	ENST00000355773.6	protein_coding	9/10			chr6	TogoVar
SLC25A12_chr2_171778405_171899244	171866678	G G	GCGGGGGG others(192): Show GCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCGGG GGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGGGGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp2 HG02970.hp2 others(2): Show HG02723.hp2 HG02886.hp2 HG02970.hp2 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0013 a0001c0002t0001 a0001c0002t0013	a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 others(2): Show a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0302 a0001c0002t0013g0298	5	308	0.0162	199	c.209 others(216): Show c.209+2002_209+2003insGCCGGCCAGCCGCCCCGTCCAGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCCGGCGAGCCGCCCCGTCTGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCCCCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCCCCCCCGGCCAGCCGCCCCTTCCGGGAGGGA GGTAGGGGGGTCAGCCCCCCG	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A46_chr5_110734007_110770157	110750213	T T	TAGAAAGG others(192): Show TAGAAAGGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCA GTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0075 a0001c0002t0003g0075	1	314	0.0032	199	c.563 others(216): Show c.563+1959_563+1960insTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGAAAGGTC	SLC25A46	ENSG00000164209.17	transcript	ENST00000355943.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC37A1_chr21_42508852_42586426	42570234	T T	TGACACAT others(192): Show TGACACATGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCCATTGCCAT GTGACACATGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCCGTTGTCA TGCGACACACGGCCTGGTTCTGAGAAGTGGTGGGCAGGGTGGCTGTTGCC ATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCCATTGC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03195.hp1 HG01167.hp2 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0019 a0001c0003t0027g0019	2	352	0.0057	199	c.142 others(218): Show c.1423+1796_1423+1797insGACACATGGCCTGGTTCTGAGAAGCG GCGGGCAGGGTGGCCATTGCCATGTGACACATGGCCTGGTTCTGAGAAGC GGCGGGCAGGGTGGCCGTTGTCATGCGACACACGGCCTGGTTCTGAGAAG TGGTGGGCAGGGTGGCTGTTGCCATGTGACACACGGCCTGGTTCTGAGAA GCGGCGGGCAGGGTGGCCATTGC	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19			chr21	TogoVar
SLFN12L_chr17_35459254_35542678	35508778	T T	TATTGCCT others(192): Show TATTGCCTGCATTTTCTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTT TTTTTATTATACTCTCAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03471.hp2 HG06807.hp1 others(1): Show HG02622.hp2 HG03471.hp2 HG06807.hp1 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0006 a0001c0001 a0001c0002 a0005c0006	a0001c0001t0004 a0001c0002t0136 a0005c0006t0035 others(1): Show a0001c0001t0004 a0001c0002t0136 a0005c0006t0035 a0005c0006t0092	a0001c0001t0004g0276 a0001c0002t0136g0275 a0005c0006t0035g0321 others(1): Show a0001c0001t0004g0276 a0001c0002t0136g0275 a0005c0006t0035g0321 a0005c0006t0092g0277	4	358	0.0112	199	c.86+ others(216): Show c.86+13500_86+13501insTGGGGGAGGGGGGAGGGATAGCATTGGG AGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGTGCACCAGCAT GGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCT AAAACTGAGAGTATAATAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAA AAAAAAGAAAATGCAGGCAAT	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	2/4			chr17	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(192): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTATATATTATATATATATTA TATATATTATGTATAATATATATTATATATATTATATATATTATGTATAA TATATATTATATATATTATATATTATGTATAATATATATTTTATATATTA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0247 a0001c0001t0097g0247	1	153	0.0065	199	c.784 others(214): Show c.784+877_784+878insTAATATATAAAATATATATTATACATAATA TATAATATATATAATATATATTATACATAATATATATAATATATATAATA TATATTATACATAATATATATAATATATATATAATATATAATATATATTA TACATAATATATATAATATATATATAATATATAATATATATTATACATAA TATATATAATATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(192): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTATATATTATATATATATTA TATATATTATGTATAATATATATTATATATATTATATATATTATGTATAA TATATATTTTATATATTATATATATTATGTATAATATATATTATATATTA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0127 a0001c0001t0127	a0001c0001t0127g0224 a0001c0001t0127g0224	1	153	0.0065	199	c.784 others(214): Show c.784+877_784+878insTAATATATAATATATATTATACATAATATA TATAATATATAAAATATATATTATACATAATATATATAATATATATAATA TATATTATACATAATATATATAATATATATATAATATATAATATATATTA TACATAATATATATAATATATATATAATATATAATATATATTATACATAA TATATATAATATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMYD3_chr1_245744347_246512279	246325271	G G	GGGGGGCG others(192): Show GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGA AGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGA GGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGG GAAGGAGGGAGAAGGAGTCGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0102 a0002c0003t0002g0102	1	78	0.0128	199	c.531 others(216): Show c.531+1929_531+1930insGCGACTCCTTCTCCCTCCTTCCCGCCCC CGCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTC CCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCC TTCTCCCTCCTTCCCGCCCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNX18_chr5_54512759_54551586	54513823	A A	ATATATAT others(192): Show ATATATATGATATATATAAATTTATATAATATATAAATATATATGATATA TATAAATTTATATAATATATAAATATATATGATATATATAAATTTATATA ATATATAAATATATATGATATATAAATTTATATAATATATAAATATATAT GATATATATAAATTTATATAATATATAAATATATATGATATATATAAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0196 a0001c0003t0013g0196	1	227	0.0044	199	c.-41 others(210): Show c.-4130_-4129insTATATATGATATATATAAATTTATATAATATATA AATATATATGATATATATAAATTTATATAATATATAAATATATATGATAT ATATAAATTTATATAATATATAAATATATATGATATATAAATTTATATAA TATATAAATATATATGATATATATAAATTTATATAATATATAAATATATA TGATATATATAAATT	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		3935		chr5	TogoVar
SORCS2_chr4_7187538_7747827	7449241	C C	CCCTCCCT others(192): Show CCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCT CCCTTCCTCCCTCCCTTCCGTACTTCCTCTCCCCTCCCTCCCTCTTTTCC TTTCTCTCCCCTCCATCCCGCCCTCCCTCCCTTCCTCTTTTCCCTCTCTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02602.hp1 HG03492.hp2 others(1): Show HG01169.hp2 HG02602.hp1 HG03492.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0017 others(1): Show a0001c0001 a0001c0002 a0001c0017 a0002c0004	a0001c0001t0036 a0001c0002t0021 a0001c0017t0002 others(1): Show a0001c0001t0036 a0001c0002t0021 a0001c0017t0002 a0002c0004t0004	a0001c0001t0036g0106 a0001c0002t0021g0090 a0001c0017t0002g0056 others(1): Show a0001c0001t0036g0106 a0001c0002t0021g0090 a0001c0017t0002g0056 a0002c0004t0004g0046	4	143	0.0280	199	c.548 others(218): Show c.548+52893_548+52894insTCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCT CCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCGTACTTCCTCTCCCC TCCCTCCCTCTTTTCCTTTCTCTCCCCTCCATCCCGCCCTCCCTCCCTTC CTCTTTTCCCTCTCTTCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX11_chr2_5687384_5706385	5706125	G G	GCTGGGGT others(192): Show GCTGGGGTAGAGGAGCAGGGAGACTGGGGTAGAGGAGCAGGGAGGCTGGG GTAGAGGAGCAGGGAGACTGGGGTAGAGGAACAGGTAGGCTGGGGTGGAG GAGCTGGGAGGCCAGGGTGGAGGAGTTGAGGAGGCTGGGGTAGAGGAGCA GGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0000 a0001c0001t0058g0000	1	423	0.0024	199	c.12 others(212): Show c.12078_*12079insCTGGGGTAGAGGAGCAGGGAGACTGGGGTAGA GGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGACTGGGGTAGAGGAACA GGTAGGCTGGGGTGGAGGAGCTGGGAGGCCAGGGTGGAGGAGTTGAGGAG GCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGG GTAGAGGAGCAGGGAGA	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4741		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706141	A A	AGGGAGAC others(192): Show AGGGAGACTGGGGTAGAGGAGCAGGGAGACTGGGGTGGAGGAGCTGGGAG GCCAGGGTGGAGGAGTTGAGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGG GGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGACTGGGGTGGA GGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	404	0.0025	199	c.12 others(212): Show c.12094_*12095insGGGAGACTGGGGTAGAGGAGCAGGGAGACTGG GGTGGAGGAGCTGGGAGGCCAGGGTGGAGGAGTTGAGGAGGCTGGGGTAG AGGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGC AGGGAGACTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAG GCTGGGGTGGAGGAGCT	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4757		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706297	G G	GGGAGGCT others(192): Show GGGAGGCTGGGGTGGAGGAGCTGGGAGGCTGGGGTAGAGGAGCAGGGAGG CTGGGGTAGAGGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAGACTGGGG TGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGG AGCAGGGAGGCTGGGGTGGAGGAGCTGGGAGGCCAGGGTGGAGGAGTTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG03098.hp2 HG02976.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0176 a0001c0001t0056 a0001c0001t0176	a0001c0001t0056g0000 a0001c0001t0176g0000 a0001c0001t0056g0000 a0001c0001t0176g0000	2	431	0.0046	199	c.12 others(212): Show c.12250_*12251insGGAGGCTGGGGTGGAGGAGCTGGGAGGCTGGG GTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGACTGGGGTGGAG GAGCAGGGAGACTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCAG GGAGGCTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCTGGGAGGC CAGGGTGGAGGAGTTGA	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4913		chr2	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(192): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTT CCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0015 a0003c0003t0001g0015	1	18	0.0556	199	c.54 others(210): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAGGGAAGGGAAGG GAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(192): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTT CCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01358.hp2 NA19070.hp2 HG00280.hp1 HG01358.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0001 a0001c0001t0001g0009	3	20	0.1500	199	c.54 others(210): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(192): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTT CCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 NA18992.hp1 NA18998.hp2 HG01255.hp1 NA18992.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	20	0.1500	199	c.54 others(210): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(192): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTT CCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 NA18977.hp1 HG02015.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	2	19	0.1053	199	c.54 others(210): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(192): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTT CCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	18	0.0556	199	c.54 others(210): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(192): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTT CCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	18	0.0556	199	c.54 others(210): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPTSSA_chr14_34427788_34467240	34443208	T T	TGTGTGTG others(192): Show TGTGTGTGTGTGTGTGTGTTTTGAGATGGAGTTTTCCTCTCATTACCCAG CTGGAGTGCAATGGCAGTCTTAGCTCACTGCAACCTCTGCCTCCCAGGTT CAAGCGATTCTCCTGCTTCTAGGGGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTTTTTTTGAGATTGAGTTTTCCTCTAGGG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	340	0.0029	199	c.113 others(216): Show c.113-7905_113-7904insCCCTAGAGGAAAACTCAATCTCAAAAAA ACACACACACACACACACACACACACACACACACACACACACACACACCC CTAGAAGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGC TAAGACTGCCATTGCACTCCAGCTGGGTAATGAGAGGAAAACTCCATCTC AAAACACACACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SRXN1_chr20_641615_658200	642043	G G	GGGGAGGC others(192): Show GGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0117 a0001c0001t0013g0117	1	391	0.0026	199	c.66 others(210): Show c.6670_*6671insTCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCT CCCCCCACCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCTCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4571		chr20	TogoVar
SRXN1_chr20_641615_658200	642043	G G	GGGGGAGG others(192): Show GGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	391	0.0026	199	c.66 others(210): Show c.6670_*6671insTCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCT CCCCCCACCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCAGGCAACTCCACCCCCGCTGGGGCCCCCCCCAGGCAACTCCACCC CCGCTGGGCCTCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4571		chr20	TogoVar
SUFU_chr10_102498972_102638535	102637701	A A	AATATAAT others(192): Show AATATAATTATATATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA19007.hp1 NA18983.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0155 a0001c0001t0001g0139 a0001c0001t0001g0155	2	228	0.0088	199	c.75 others(210): Show c.7546_*7547insATATAATTATATATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4167		chr10	TogoVar
SYTL3_chr6_158645054_158769871	158701221	A A	AAGGGCTG others(192): Show AAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTG AGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTG TCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGG TGTACATGAAGGACTGTCTGGGGGGAGGAGCCGTGGGAAGAGGGTCATGG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0001 a0002c0005t0001g0001	1	219	0.0046	199	c.395 others(216): Show c.395-6006_395-6005insGCTGTCTAGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGG GGTGTAGATGAAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATG GAGGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGGGAGGAGCC GTGGGAAGAGGGTCATGGAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAF5L_chr1_229588134_229631122	229628163	T T	TGTATATA others(192): Show TGTATATAATATATATAATATATGTGTATATATATTATACATATACATAT TATATATGTATATATATTATACATATACATATTATATATGTATATATTAT ACATATATTATATATGTATATATATTATACATATACATATTATATATGTA TATATATTATACATATACATATTATATATGTATATATATTATACATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0005 a0001c0013t0005	a0001c0013t0005g0187 a0001c0013t0005g0187	1	373	0.0027	199	c.-22 others(210): Show c.-2283_-2282insGTATATGTATAATATATATACATATATAATATGT ATATGTATAATATATATACATATATAATATGTATATGTATAATATATATA CATATATAATATATGTATAATATATACATATATAATATGTATATGTATAA TATATATACATATATAATATGTATATGTATAATATATATACACATATATT ATATATATTATATAC	TAF5L	ENSG00000135801.11	transcript	ENST00000258281.7	protein_coding		2042		chr1	TogoVar
TANC2_chr17_62961235_63432703	62996974	T T	TGGCTAAT others(192): Show TGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01069.hp1 HG01081.hp1 others(20): Show HG00280.hp2 HG01069.hp1 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG02055.hp1 HG02148.hp1 HG02280.hp1 HG02559.hp2 HG02922.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03942.hp1 HG06807.hp2 NA18993.hp2 NA19077.hp2 NA19083.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0022 a0001c0002t0032 a0001c0007t0002 a0002c0003t0002	a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0023 others(20): Show a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0103 a0001c0001t0002g0009 a0001c0001t0002g0021 a0001c0001t0002g0046 a0001c0001t0002g0054 a0001c0001t0002g0062 a0001c0001t0002g0068 a0001c0001t0006g0027 a0001c0001t0012g0114 a0001c0001t0013g0012 a0001c0001t0022g0026 a0001c0002t0032g0112 a0001c0007t0002g0017 a0001c0007t0002g0064 a0002c0003t0002g0077 a0002c0003t0002g0078	23	133	0.1729	199	c.-23 others(218): Show c.-23-12543_-23-12542insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACG CCCGGCTAATTTTTTGTATTTTT	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
TCF3_chr19_1604292_1657615	1627913	G G	GGGGATGA others(192): Show GGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAG GGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0202 a0001c0002t0002g0202	1	313	0.0032	199	c.299 others(214): Show c.299-488_299-487insGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGT CCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGT CCCCTTCCCGCCTCATCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar

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