Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PRIMPOL_chr4_184644738_184699952	184676452	T T	TCTCCCTT others(240): Show TCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCT CCTTCCCCCTTCCCTTCCCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTT CCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTCCCTT CCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCT TCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	328	0.0031	247	c.845 others(264): Show c.845-1779_845-1778insTCCCTTCCCCCTTCCCTTCTCCCTTCCC TTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCTTCC CCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCT TCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCC CCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTT CCCTTCTCCCTTCCCTTCC	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKCB_chr16_23830983_24225611	23981838	C C	CTTCCCCT others(240): Show CTTCCCCTTCACTTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCCTTCA CTTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCTTTTCCCTTCCACTTCC CCTTTCCCTTCCACTTCCCTTTCCCTTCACCTTCCCCTTCCCTTTCCCTT CCCCTTCCCTTCCCTTCCCCTTCCCTTTCCCTTCCCCTTCTCTTTCCCTT CCCTTTCCCTTCCCTTTCCTTTTCCCTTCCCTTCCCTTTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0039 a0001c0004t0002g0039	1	148	0.0068	247	c.206 others(264): Show c.206-6665_206-6664insCTTCACTTTCCCTTCCCCTTCCCTTCCC TTTCCCTTCCCCTTCACTTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCT TTTCCCTTCCACTTCCCCTTTCCCTTCCACTTCCCTTTCCCTTCACCTTC CCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCCTTCCCTTTCCCTTC CCCTTCTCTTTCCCTTCCCTTTCCCTTCCCTTTCCTTTTCCCTTCCCTTC CCTTTCCCTTCCTTTTCCC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRR14L_chr22_31676347_31755132	31726864	A A	AAGCTTCC others(240): Show AAGCTTCCATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02148.hp2 HG02273.hp2 others(1): Show HG02004.hp1 HG02148.hp2 HG02273.hp2 NA18962.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0024 a0004c0004t0005g0029 a0004c0004t0005g0030 others(1): Show a0004c0004t0005g0024 a0004c0004t0005g0029 a0004c0004t0005g0030 a0004c0004t0005g0303	4	316	0.0127	247	c.475 others(264): Show c.475-1255_475-1254insGATCGAGACCATCCCAGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAATGGAAGCT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding	2/8			chr22	TogoVar
PXDN_chr2_1626887_1749515	1719960	G G	GAGGGAGG others(240): Show GAGGGAGGGAGGGATGCAGAGAGGAGAGGGAGGGAGGGATGCAGAGAGAG AGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGCAGAGAG AGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAG AGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAG AGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	322	0.0031	247	c.200 others(266): Show c.200+24295_200+24296insACATCCCTCCCTCCCTCTCTCTCTGC ATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCT CTCTGCATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCT CTCTCTGCATCCCTCCCTCCCTCTCTCTGCATCCCTCCCTCCCTCTCTCT CTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCC TCTCTGCATCCCTCCCTCCCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RASA1_chr5_87262883_87396916	87301463	C C	CTTAGATG others(240): Show CTTAGATGTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTTGATCTCCTGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	282	0.0036	247	c.540 others(266): Show c.540-29871_540-29870insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTTGAT CTCCTGATTAGATGTCTTTTT	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
RBFOX3_chr17_79084345_79616051	79495561	G G	GGAGGCAG others(240): Show GGAGGCAGGGATGGGGGTGCGGGAAGGTGGGGGAGGGGTGCAGAGGGTGG GGAGGTGGGGGCAGGGGTACTGGGGGCAGGGATGGGGGTGCGGGAAGGTG GGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGG GAGGTGGGGGCAGGGGTACTGGAGGCAGGGATGGGGGTGCAGGAAGGTGG GAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGCAGGGGTACT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0098 a0001c0002t0004g0098	1	154	0.0065	247	c.-31 others(268): Show c.-319-12964_-319-12963insAGTACCCCTGCCCCACCTCCCCAC CCTCTGCACCCCTCCCCCACCTTCCCACCTTCCTGCACCCCCATCCCTGC CTCCAGTACCCCTGCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACC TCCCCACCCTCTGCACCCCTCCCCCACCTTCCCGCACCCCCATCCCTGCC CCCAGTACCCCTGCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCT TCCCGCACCCCCATCCCTGCCTC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RIPOR3_chr20_50581108_50696542	50666183	A A	ATTTCTTT others(240): Show ATTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02132.hp1 HG01175.hp1 HG02132.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0022 a0002c0002t0001g0033 a0001c0001t0001g0022 a0002c0002t0001g0033	2	280	0.0071	247	c.3+2 others(262): Show c.3+24942_3+24943insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF17_chr13_24759169_24884921	24882090	A A	ATATAGAT others(240): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTAGATATATAGATACATCATCTATATAGATATATAGATA CATCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTA TATAGATATATAATCTATATAGATACATCTATATAGATATATAATCTATA TAGCTATATAGATACATCTATATAGCTATATAGATACATCTATATAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0380 a0002c0003t0002g0380	1	426	0.0024	247	c.23 others(258): Show c.2364_*2365insTATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTAGATATATAGATACATCATCTAT ATAGATATATAGATACATCTATATAGATATATAGATACATCTATATAGAT ATATAGATACATCTATATAGATATATAATCTATATAGATACATCTATATA GATATATAATCTATATAGCTATATAGATACATCTATATAGCTATATAGAT ACATCTATATAGC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2170		chr13	TogoVar
RPA3_chr7_7631518_7723607	7678645	T T	TATATTTA others(240): Show TATATTTATATACTTAATTTATAGATAAATATATATTTATATACTTAATT TATAGATAAATATATATTTATATATTTAGTTTATAAATATATATTTATAT ATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTT ATATATTTAGTTTATAAATATATATTTATGTATTTAGTTTATAAATATAT ATTTATGTATTTAGTTTATAAATATATATTTATGTATTTAGTTTATAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0292 a0001c0001t0018g0292	1	308	0.0033	247	c.-75 others(266): Show c.-758+7184_-758+7185insTTATAAACTAAATACATAAATATATA TTTATAAACTAAATACATAAATATATATTTATAAACTAAATACATAAATA TATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATA AATATATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATA TATAAATATATATTTATCTATAAATTAAGTATATAAATATATATTTATCT ATAAATTAAGTATATAAATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SCFD2_chr4_52867982_53371061	53207619	G G	GACCCAAA others(240): Show GACCCAAACCATATTAGACTTTTCATTTAGAACATTATATATATATAAAT TGTATATATATATAAATTGTATATATAATATATATATAAATTGTATATAT ATATAAATTGTATATATAATATATATATAAATTGTATATATATATAAATT GTATATATAATATATATATAAATTATATATATATATACAATTTATATATA TATAATGTTCTAAATGAAAAGTCTAATATGGTTTGGGTCTGTATCACC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02300.hp1 NA19066.hp2 others(3): Show HG01346.hp1 HG02300.hp1 NA19066.hp2 NA19087.hp1 NA20300.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0002t0011 a0002c0006t0005 a0002c0002t0001 a0002c0002t0011 a0002c0006t0005	a0002c0002t0001g0091 a0002c0002t0001g0096 a0002c0002t0011g0090 others(3): Show a0002c0002t0001g0091 a0002c0002t0001g0096 a0002c0002t0011g0090 a0002c0006t0005g0089 a0002c0006t0005g0102 a0002c0006t0005g0103	6	162	0.0370	247	c.131 others(268): Show c.1312-62038_1312-62037insGGTGATACAGACCCAAACCATATT AGACTTTTCATTTAGAACATTATATATATATAAATTGTATATATATATAT AATTTATATATATATTATATATACAATTTATATATATATACAATTTATAT ATATATTATATATACAATTTATATATATATACAATTTATATATATATTAT ATATACAATTTATATATATATACAATTTATATATATATAATGTTCTAAAT GAAAAGTCTAATATGGTTTGGGT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGTTGGG others(240): Show GGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTT GGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGG GGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAG GGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01256.hp1 HG00639.hp1 HG01256.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0210 a0001c0009t0001g0211 a0001c0009t0001g0210 a0001c0009t0001g0211	2	290	0.0069	247	c.464 others(260): Show c.464+83_464+84insTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGG TTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGG GTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGG TTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGG GGGGGTTGAGTGAGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCYL2_chr12_100262177_100346715	100294428	G G	GGGGGTGA others(240): Show GGGGGTGACCCCCCCACCTCCCTCCCGGACGGGCCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCAACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAG GGGGCTGACCCCCCCACCTCCCTCCCGGAAGGGGTGGCTGGCCAGGCGGG GGGGTGACCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGTGGGG GGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03209.hp2 HG03579.hp1 others(1): Show HG02976.hp1 HG03209.hp2 HG03579.hp1 HG06807.hp1	a0001 a0001	a0001c0006 a0001c0018 a0001c0006 a0001c0018	a0001c0006t0003 a0001c0018t0003 a0001c0006t0003 a0001c0018t0003	a0001c0006t0003g0003 a0001c0006t0003g0019 a0001c0018t0003g0020 a0001c0006t0003g0003 a0001c0006t0003g0019 a0001c0018t0003g0020	4	220	0.0182	247	c.335 others(264): Show c.335+2772_335+2773insTGACCCCCCCACCTCCCTCCCGGACGGG CCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAACCTCCCTCCCGGACGG GGCAGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGAAGGG GTGGCTGGCCAGGCGGGGGGGTGACCCCCCCACCTCCCTCCCGGATGGGG TGGCTGGCCGGGTGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGG	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(240): Show CCACGCAGAGGGCCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACACAGACGATCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0003 a0005c0003t0003	a0005c0003t0003g0069 a0005c0003t0003g0069	1	116	0.0086	247	c.199 others(266): Show c.1994+2130_1994+2131insCACGCAGAGGGCCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACACAGACGATCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGA ATCACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(240): Show CCACGCAGAGGGCCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACACAGACGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0039 a0001c0004t0001g0039	1	116	0.0086	247	c.199 others(266): Show c.1994+2130_1994+2131insCACGCAGAGGGCCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACACAGACGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(240): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0033 a0001c0007t0003g0033	1	116	0.0086	247	c.199 others(266): Show c.1994+2130_1994+2131insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGATCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977201	C C	CCACGTAG others(240): Show CCACGTAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0032 a0032	a0032c0075 a0032c0075	a0032c0075t0008 a0032c0075t0008	a0032c0075t0008g0016 a0032c0075t0008g0016	1	116	0.0086	247	c.199 others(266): Show c.1994+2656_1994+2657insCACGTAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SIGIRR_chr11_400716_419999	411273	G G	GGGGGGGT others(240): Show GGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGGGG GGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGGAGGGGGGTGCCC AGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATG TCTGGATGCAGTCGGGCGGGGGGGGTGCTCAGCTCTGACCATGTCTGGAT GCAGTCGGGGAGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0226 a0001c0006t0001g0226	1	242	0.0041	247	c.-15 others(266): Show c.-153-1247_-153-1246insGACTGTATCCAGACATGGTCAGAGCT GGGCACCCCCCTCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCC CCCCCGCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCGACT GCATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGACTGCATTCAG ACATGGTCAGAGCTGGGCACCCCCCCCCCCCCCCGACTGCATCCAGACAT GGTCAGAGCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411273	G G	GGGGGGGT others(240): Show GGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGGGG GGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGGAGGGGGGTGCCCA GCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGT CTGGATGCAGTCGGGCGGGGGGGGGTGCTCAGCTCTGACCATGTCTGGAT GCAGTCGGGGAGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02056.hp2 HG00423.hp1 HG02056.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0008 a0001c0003 a0003c0008	a0001c0003t0001 a0003c0008t0001 a0001c0003t0001 a0003c0008t0001	a0001c0003t0001g0030 a0003c0008t0001g0024 a0001c0003t0001g0030 a0003c0008t0001g0024	2	242	0.0083	247	c.-15 others(266): Show c.-153-1247_-153-1246insGACTGTATCCAGACATGGTCAGAGCT GGGCACCCCCCTCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCC CCCCCCGCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCGAC TGCATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGACTGCATTCA GACATGGTCAGAGCTGGGCACCCCCCCCCCCCCCGACTGCATCCAGACAT GGTCAGAGCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1070526	C C	CCCCCAGC others(240): Show CCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCAC ACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATC ACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGC ATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACT TATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0106 a0002c0002t0002g0106	1	118	0.0085	247	c.224 others(266): Show c.2241+3106_2241+3107insCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCA CTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGC TCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGG GGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGCTGCATAA GTGTGATGCCGTGTGCTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC2A5_chr1_9030106_9074635	9053455	A A	ATATATAT others(240): Show ATATATATTATATATATTATATATTTATATATTATATATATTTATATATA TTATATATTTATATATTATATATATTTATATATATTATATATTTATATAT TATATATATTTATATATATTATATATTTATATATTATATATATTTATATA TATTATATATTTATATATTATATATATTTATATATATTATATATTTATAT ATTATATATATTTATATATATTATATATATTTATATATATTATATATT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0224 a0001c0001t0007g0224	1	336	0.0030	247	c.293 others(264): Show c.293+3992_293+3993insAATATATAATATATATAAATATATATAA TATATATAAATATATATAATATATAAATATATAATATATATAAATATATA TAATATATAAATATATAATATATATAAATATATATAATATATAAATATAT AATATATATAAATATATATAATATATAAATATATAATATATATAAATATA TATAATATATAAATATATAATATATATAAATATATATAATATATAAATAT ATAATATATATAATATATA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC2A5_chr1_9030106_9074635	9053455	A A	ATATATAT others(240): Show ATATATATTATATATTTATATATTATATATATTTATATATATTATATATA TTATATATTTATATATTATATATATTTATATATATTATATATTTATATAT TATATATATTTATATATATTATATATTTATATATTATATATATTTATATA TATTATATATTTATATATTATATATATTTATATATATTATATATTTATAT ATTATATATATTTATATATATTATATATATTTATATATATTATATATT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0245 a0001c0001t0004g0245	1	336	0.0030	247	c.293 others(264): Show c.293+3992_293+3993insAATATATAATATATATAAATATATATAA TATATATAAATATATATAATATATAAATATATAATATATATAAATATATA TAATATATAAATATATAATATATATAAATATATATAATATATAAATATAT AATATATATAAATATATATAATATATAAATATATAATATATATAAATATA TATAATATATAAATATATAATATATATAATATATATAAATATATATAATA TATAAATATATAATATATA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC2A8_chr9_127392169_127412898	127409324	A A	AAGATGAT others(240): Show AAGATGATGGGGAGGTGGGGGGAGATGATGGAGAGGTGGGGGAGATGATG GGGAGGTGGGGGGAGATGATGGAGAGGTGGGGGAGATGATGGGGAGGTGG GGGGAGATGATGGAGAGGTGGGGGAGATGATGGGGAGGTGGAGGAAGATG ATGGGGAGGTGGGGGGAGATGATGGAGAGGTGGGGGAGATGATGGGGAGG TGGGGGGAGATGATGGGGAGGTGGGGGGAGATGATGGAGAGGTGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0001 a0002c0006t0002g0001	1	418	0.0024	247	c.20 others(258): Show c.2075_*2076insAGATGATGGGGAGGTGGGGGGAGATGATGGAGAG GTGGGGGAGATGATGGGGAGGTGGGGGGAGATGATGGAGAGGTGGGGGAG ATGATGGGGAGGTGGGGGGAGATGATGGAGAGGTGGGGGAGATGATGGGG AGGTGGAGGAAGATGATGGGGAGGTGGGGGGAGATGATGGAGAGGTGGGG GAGATGATGGGGAGGTGGGGGGAGATGATGGGGAGGTGGGGGGAGATGAT GGAGAGGTGGGGG	SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding		1427		chr9	TogoVar
SLC38A9_chr5_55620848_55717324	55696708	C C	CCCCCAAC others(240): Show CCCCCAACCTCCCTCCCGGACGGGGTGGCTGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCC CCACATCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGTGGCTGCCAGGTGGGGGGCTGACCCCCCG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0251 a0002c0002t0001g0251	1	350	0.0029	247	c.113 others(264): Show c.113+1137_113+1138insCGGGGGGTCAGCCCCCCACCTGGCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGATGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCAGCCACCCCG TCCGGGAGGGAGGTTGGGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55696708	C C	CCCCCAAC others(240): Show CCCCCAACCTCCCTCCCGGACGGGGTGGCTGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTCACCCCCCC ACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03453.hp2 HG03486.hp2 HG02280.hp2 HG03453.hp2 HG03486.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0007 a0002c0005t0002g0008 a0002c0005t0002g0009 a0002c0005t0002g0007 a0002c0005t0002g0008 a0002c0005t0002g0009	3	350	0.0086	247	c.113 others(264): Show c.113+1137_113+1138insCGGGGGGTCAGCCCCCCACCCGGCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGTGAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCAGCCACCCCG TCCGGGAGGGAGGTTGGGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SMAD2_chr18_47803957_47935659	47850548	A A	AATATATA others(240): Show AATATATATTATGTATAATATATATTATATATTATATATATATTATATAT ATTATGTATAATATATATTATATATTATATATATATTATATATATTATGT ATAATATATATTATATATTATATATATTATGTATAATATATATTATATAT TATATATATATTATATATATTATGTATAATATATATTATATATTATATAT ATATTATATATATTATGTATAATATATATTATATATTATATATATATT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0204 a0001c0001t0018g0204	1	310	0.0032	247	c.784 others(262): Show c.784+725_784+726insAATATATATATAATATATAATATATATTAT ACATAATATATATAATATATATATAATATATAATATATATTATACATAAT ATATATAATATATATATAATATATAATATATATTATACATAATATATATA ATATATAATATATATTATACATAATATATATAATATATATATAATATATA ATATATATTATACATAATATATATAATATATATATAATATATAATATATA TTATACATAATATATAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850548	A A	AATATATA others(240): Show AATATATATTATGTATAATATATATTATATATTATATATATATTATATAT ATTATGTATAATATATATTATATATTATATATATTATGTATAATATATAT TATATATTATATATATATTATATATATTATGTATAATATATATTATATAT TATATATATATTATATATATTATGTATAATATATATTATATATTATATAT ATATTATATATATTATGTATAATATATATTATATATTATATATATATT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0265 a0001c0001t0017g0265	1	310	0.0032	247	c.784 others(262): Show c.784+725_784+726insAATATATATATAATATATAATATATATTAT ACATAATATATATAATATATATATAATATATAATATATATTATACATAAT ATATATAATATATATATAATATATAATATATATTATACATAATATATATA ATATATATATAATATATAATATATATTATACATAATATATATAATATATA ATATATATTATACATAATATATATAATATATATATAATATATAATATATA TTATACATAATATATAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTCCCT others(240): Show CCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTC CTCCTCCCTCCCTCCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCCTCCC TTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0074 a0001c0029t0074	a0001c0029t0074g0162 a0001c0029t0074g0162	1	168	0.0060	247	c.548 others(266): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCTCCCTCCCTCCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCC TCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTC CCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCC TCCCTTCCTCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7690406	G G	GGATGATG others(240): Show GGATGATGGTGGGTGTGTGGGTGGGTGGATGGATGGATGGATGAGTGGAT GAATGGATGAGTGGGTGGATGGATGATGGATGATGGATAGATGCTGAATT GATAGATGGATAGATGAATGTATGAATGATGCATGATGGATGGATGATGG TGAATGGGTGGTGGATAGGTGGACGGGTGGGTGGGTGGGTGTGTGGATGG ATGGATGAGTGGGTGGATGGATGATGAATGATGGATAGATGCTGAATT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0046 a0003c0046	a0003c0046t0001 a0003c0046t0001	a0003c0046t0001g0164 a0003c0046t0001g0164	1	168	0.0060	247	c.159 others(264): Show c.1591+822_1591+823insATGGTGGGTGTGTGGGTGGGTGGATGGA TGGATGGATGAGTGGATGAATGGATGAGTGGGTGGATGGATGATGGATGA TGGATAGATGCTGAATTGATAGATGGATAGATGAATGTATGAATGATGCA TGATGGATGGATGATGGTGAATGGGTGGTGGATAGGTGGACGGGTGGGTG GGTGGGTGTGTGGATGGATGGATGAGTGGGTGGATGGATGATGAATGATG GATAGATGCTGAATTGATG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATC1L_chr21_46156160_46189459	46161025	G G	GTGGAGGG others(240): Show GTGGAGGGGGAAGGGGGAGGGGGAAGGGGGGAGGGGGAAGGGGAAGGGGG AGGGGGAAGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGG GAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGCGGGAACGGGGGAGG GGAGATGAGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAA GGGGGAGGGGGAAGGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0014 a0007c0007t0014	a0007c0007t0014g0059 a0007c0007t0014g0059	1	251	0.0040	247	c.35 others(256): Show c.353_*354insGCTTCCCCCTCCCCCTCCCCATCTCCCCTCCCCCCT TCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCC CTCCTCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTC CCCCTTCCCCCTCCCCCTTCCCCTTCCCCCTCCCCCCTTCCCCCTCCCCC TTCCCCCTCCA	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		134		chr21	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(240): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCC CTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0036 a0001c0002t0005g0036	1	418	0.0024	247	c.54 others(258): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGG AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SRXN1_chr20_641615_658200	642007	G G	GGGGGGCC others(240): Show GGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGG GGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03471.hp1 NA18522.hp1 others(1): Show HG02970.hp1 HG03471.hp1 NA18522.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0008 a0001c0002 a0003c0008	a0001c0002t0014 a0003c0008t0020 a0001c0002t0014 a0003c0008t0020	a0001c0002t0014g0025 a0003c0008t0020g0146 a0001c0002t0014g0025 a0003c0008t0020g0146	4	422	0.0095	247	c.67 others(258): Show c.6706_*6707insAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCC CCGCTGGGCCTCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCC CCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCC CGCTGGGGCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4607		chr20	TogoVar
SRXN1_chr20_641615_658200	642133	G G	GGGGGGCC others(240): Show GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTG CCTGGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0144 a0002c0004t0008g0144	1	422	0.0024	247	c.65 others(258): Show c.6580_*6581insAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CTCCCCCCACCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCAGGCAACTCCACCC CCGCTGGGCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4481		chr20	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATATACA others(240): Show TATATACACATATGTGTACATATGTGTATATATACATATATACACATATA TATGTATATATACACATATGTGAATATGTATATATGTGTTATATATACAC ATATGTGTATATGTATATATGTATATATACACATATGTGTATATATACAT ATATACATATACACATATGTGTATATATAACACATATATATATACACATA TGTGTATATATACATATATACATATACACATATGTGTATATATAACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG02040.hp2 others(30): Show HG00408.hp2 HG00621.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp1 HG02165.hp1 HG04184.hp1 HG04184.hp2 NA18747.hp2 NA18940.hp2 NA18944.hp2 NA18949.hp1 NA18950.hp1 NA18953.hp1 NA18961.hp2 NA18967.hp1 NA18979.hp2 NA18986.hp1 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18999.hp1 NA19003.hp2 NA19007.hp2 NA19010.hp2 NA19058.hp2 NA19060.hp2 NA19065.hp2 NA19079.hp1 NA19082.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 others(7): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0008 a0001c0003t0011 a0001c0003t0018 a0001c0003t0023 a0001c0003t0024 a0001c0003t0047 a0001c0003t0052	a0001c0003t0001g0130 a0001c0003t0003g0007 a0001c0003t0005g0196 others(30): Show a0001c0003t0001g0130 a0001c0003t0003g0007 a0001c0003t0005g0196 a0001c0003t0008g0147 a0001c0003t0008g0162 a0001c0003t0008g0192 a0001c0003t0008g0216 a0001c0003t0008g0217 a0001c0003t0008g0246 a0001c0003t0008g0284 a0001c0003t0008g0302 a0001c0003t0008g0342 a0001c0003t0011g0193 a0001c0003t0011g0195 a0001c0003t0011g0197 a0001c0003t0011g0198 a0001c0003t0011g0200 a0001c0003t0011g0213 a0001c0003t0011g0218 a0001c0003t0011g0285 a0001c0003t0011g0292 a0001c0003t0011g0297 a0001c0003t0018g0199 a0001c0003t0018g0208 a0001c0003t0018g0209 a0001c0003t0018g0289 a0001c0003t0018g0355 a0001c0003t0023g0189 a0001c0003t0023g0250 a0001c0003t0023g0278 a0001c0003t0024g0191 a0001c0003t0047g0144 a0001c0003t0052g0161	33	376	0.0878	247	c.158 others(266): Show c.1582-2860_1582-2859insCACATATGTGTACATATGTGTATATA TACATATATACACATATATATGTATATATACACATATGTGAATATGTATA TATGTGTTATATATACACATATGTGTATATGTATATATGTATATATACAC ATATGTGTATATATACATATATACATATACACATATGTGTATATATAACA CATATATATATACACATATGTGTATATATACATATATACATATACACATA TGTGTATATATAACACATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYNE2_chr14_63848004_64231433	64224413	A A	ATGCATGA others(240): Show ATGCATGAAACACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0004 a0007c0011t0004	a0007c0011t0004g0055 a0007c0011t0004g0055	1	150	0.0067	247	c.203 others(264): Show c.20383-30_20383-29insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTGCATGAAACACATTTCT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	113/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
TCF25_chr16_89868592_89916379	89885103	G G	GCCCTCTC others(240): Show GCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCC CTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCT GACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTC TCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGC CTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGATGC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	300	0.0033	247	c.429 others(262): Show c.429+468_429+469insCCTCTCCCTCTGCCTGACGCCCCTCTCCCT CTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGA CGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTC CCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCT GACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGATGCCCCT CTCCCTCTGCCTGACGC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TGM2_chr20_38122385_38170270	38124178	T T	TATATATT others(240): Show TATATATTATATAATACACATTATATATTATATATAATACACATTATATA TATAATACACATTATATATTATATATAATACATAATACACATTATATATT ATATATAATACACATTATATATAATATATAACACACATTATATATAATAT ATAACACACATTATATATTATATATAATACACATTATATATTATATATAA TACACATATATTATATATAATACACATTATATATTATATATAATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0199 a0001c0001t0004g0199	1	360	0.0028	247	c.60 others(258): Show c.6040_*6041insGTGTATTATATATAATATATAATGTGTATTATAT ATAATATATGTGTATTATATATAATATATAATGTGTATTATATATAATAT ATAATGTGTGTTATATATTATATATAATGTGTGTTATATATTATATATAA TGTGTATTATATATAATATATAATGTGTATTATGTATTATATATAATATA TAATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTA TTATATAATATAT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3206		chr20	TogoVar
TLN2_chr15_62385550_62849631	62825818	A A	ATATATAT others(240): Show ATATATATTATATATTATATTATAATATATATTATATATTATATTATAAT ATATATTATATATTATATTATAATATATATTATATATTATATTATAATAT ATATTATATATTATATTATAATATATATTATATATTATATTATAATATAT ATTATATATTATATTATAATATATATTATATATTATATTATAATATATAT TATATATTATATTATAATATATATTATATATTATATTATAATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0009 a0001c0006t0002g0009	1	144	0.0069	247	c.700 others(266): Show c.7002+5219_7002+5220insTATTATATTATAATATATATTATATA TTATATTATAATATATATTATATATTATATTATAATATATATTATATATT ATATTATAATATATATTATATATTATATTATAATATATATTATATATTAT ATTATAATATATATTATATATTATATTATAATATATATTATATATTATAT TATAATATATATTATATATTATATTATAATATATATTATATATTATATTA TAATATATATTATATATTATA	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	54/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
TMEM120A_chr7_75981831_75999595	75988765	A A	AGGCCGGG others(240): Show AGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGA AGGCCGGGTGGGTGTGTGGAGGGGAAGGCCGGGTGGGTGTGTGGAGGGGA AGGCCGGGTGGGTGTGTGGAGGGGAAGGCTGGGTGGGTGTGTGGAGGGGA AGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGA AGGCCGGGTGGGTGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	368	0.0027	247	c.378 others(262): Show c.378-250_378-249insCCCTCCACACCCCCTCCCCGCCTTCCCCTC CACACACCCACCCGGCCTTCCCCTCCACACCCCCTCCCCGCCTTCCCCTC CACACCCCCTCCCCGCCTTCCCCTCCACACACCCACCCAGCCTTCCCCTC CACACACCCACCCGGCCTTCCCCTCCACACACCCACCCGGCCTTCCCCTC CACACACCCACCCGGCCTTCCCCTCCACACCCCCTCCCCGCCTTCCCCTC CACCCCCCCACCCGGCC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMPRSS2_chr21_41459305_41513158	41474440	G G	GAGGTGAG others(240): Show GAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGG GGTGAAGGCGTGAGTGAGGGGGTAAGGGGATGAGTGAGGGGGTGAGGGGG TGAGGGGTGAGTGAGGGGGCGAGGGGGTGAGTGAGGGGGCGAGGGGGTGA GTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGT GAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02896.hp1 HG02897.hp2 HG02257.hp1 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0222 a0001c0001t0012g0226 a0001c0001t0012g0227 a0001c0001t0012g0222 a0001c0001t0012g0226 a0001c0001t0012g0227	3	382	0.0079	247	c.728 others(262): Show c.728-945_728-944insACCCCCTCACCCCCTCACTCACCCCCTCAC CTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTC ACCCCCTCACCTCCTCACTCACCCCCTCGCCCCCTCACTCACCCCCTCGC CCCCTCACTCACCCCTCACCCCCTCACCCCCTCACTCATCCCCTTACCCC CTCACTCACGCCTTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCT CACTCACCCCCTCACCT	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMTC1_chr12_29495840_29788942	29643719	T T	TATATAAA others(240): Show TATATAAATATATATTATATAATATAAATATATATATTTATTATAATATA AATATATATTTATAATAAATATATATATTTATTATAATATAAATATATAT TTATAATAAATATATATATTTATTATAATATAAATATATATTTATAATAA ATATATATATTTATTATAATATAAATATATATTATAATAAATATATATAT TTATTATAATATAAATATATATTATAATAAATATATATATTTATTATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02809.hp2 HG02486.hp1 HG02809.hp2	a0001 a0001	a0001c0007 a0001c0012 a0001c0007 a0001c0012	a0001c0007t0018 a0001c0012t0010 a0001c0007t0018 a0001c0012t0010	a0001c0007t0018g0017 a0001c0012t0010g0018 a0001c0007t0018g0017 a0001c0012t0010g0018	2	276	0.0073	247	c.939 others(266): Show c.939-10384_939-10383insTATAATAAATATATATATTTATTATA ATATATATTTATATTATAATAAATATATATATTTATTATAATATATATTT ATATTATAATAAATATATATATTTATTATAAATATATATTTATATTATAA TAAATATATATATTTATTATAAATATATATTTATATTATAATAAATATAT ATATTTATTATAAATATATATTTATATTATAATAAATATATATATTTATA TTATATAATATATATTTATAT	TMTC1	ENSG00000133687.16	transcript	ENST00000539277.6	protein_coding	5/17			chr12	TogoVar
TNFRSF18_chr1_1198508_1211592	1202041	C C	CAGCCCAG others(240): Show CAGCCCAGTACCCAGCCCGGAGCCCAGTACCCAGCCCCGAGCCCAGTACC CAGCCCCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCAGTA CCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	386	0.0026	247	c.18 others(258): Show c.1802_*1803insCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTG GGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTGGGGGCTG GGTACTGGGCTCGGGGCTGGGTACTGGGCTGGGGGCTGGGTACTGGGCTC GGGGCTGGGTACTGGGCTGGGGGCTGGGTACTGGGCTCGGGGCTGGGTAC TGGGCTGGGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCCGGGC TGGGTACTGGGCT	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1466		chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202041	C C	CAGCCCAG others(240): Show CAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACC CAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCC CAGTACCCAGCCCCCAGCCCAGTACCCAGCCCGGAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAGCCCCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0002 a0007c0013t0002	a0007c0013t0002g0027 a0007c0013t0002g0027	1	386	0.0026	247	c.18 others(258): Show c.1802_*1803insCGGGGCTGGGTACTGGGCTCGGGGCTGGGTACTG GGCTGGGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGGGGCTG GGTACTGGGCTCGGGGCTGGGTACTGGGCTCCGGGCTGGGTACTGGGCTG GGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTAC TGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGA TGGGTACTGGGCT	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1466		chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202155	C C	CAGCCCAG others(240): Show CAGCCCAGTACCCAGCCCGGAGCCCAGTACCCAGCCCCGAGCCCAGTACC CAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCAGTA CCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	386	0.0026	247	c.16 others(258): Show c.1688_*1689insCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTG GGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTGGGGGCTG GGTACTGGGCTCGGGGCTGGGTACTGGGCTGGGGGCTGGGTACTGGGCTC GGGGCTGGGTACTGGGCTGGGGGCTGGGTACTGGGCTCGGGGCTGGGTAC TGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCCGGGC TGGGTACTGGGCT	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1352		chr1	TogoVar
TNNT1_chr19_55127698_55154206	55134791	A A	AGGGGAGG others(240): Show AGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGG AGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAAA TAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGAAGAGGG GAGGGGAGGGGAGGAAAGGGGAGGGGAGGAGAGAAGAGGGGAGGGGAGGG GAGGAAAGGGGAGGAAAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGAG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	320	0.0031	247	c.612 others(262): Show c.612-588_612-587insCTCTTCTCCCCTCCCCTCTTCTCCCCTCCC CTTTCCTCCCCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCCC CTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCTC CTCCCCTCCCCTCCCCTATTTTTCCCATCCCCTCTCCTCCCCTCTTCTCC CCTCCCGTCTTCTGCCCTCCCCTCTCCTCCCCTCTTCTCCGCTCTCCTCC CCTCTTCTCCCCTCCCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TNNT1_chr19_55127698_55154206	55134791	A A	AGGGGAGG others(240): Show AGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGG AGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAAT AGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGAAGAGGGG AGGGGAGGGGAGGAAAGGGGAGGGGAGGAGAGAAGAGGGGAGGGGAGGGG AGGAAAGGGGAGGAAAAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGAG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	320	0.0031	247	c.612 others(262): Show c.612-588_612-587insCTCTTCTCCCCTCCCCTCTTCTCCCCTCCC CTTTTCCTCCCCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCC CCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCT CCTCCCCTCCCCTCCCCTATTTTCCCATCCCCTCTCCTCCCCTCTTCTCC CCTCCCGTCTTCTGCCCTCCCCTCTCCTCCCCTCTTCTCCGCTCTCCTCC CCTCTTCTCCCCTCCCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TNNT1_chr19_55127698_55154206	55134791	A A	AGGGGAGG others(240): Show AGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGG AGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAAT AGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGAAGAGGGG AGGGGGAGGGGAGGAAAGGGGAGGGGAGGAGAGAAGAGGGGAGGGGAGGG GAGGAAAGGGGAGGAAAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGAG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	320	0.0031	247	c.612 others(262): Show c.612-588_612-587insCTCTTCTCCCCTCCCCTCTTCTCCCCTCCC CTTTCCTCCCCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCCC CTTTCCTCCCCTCCCCCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCT CCTCCCCTCCCCTCCCCTATTTTCCCATCCCCTCTCCTCCCCTCTTCTCC CCTCCCGTCTTCTGCCCTCCCCTCTCCTCCCCTCTTCTCCGCTCTCCTCC CCTCTTCTCCCCTCCCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TNNT1_chr19_55127698_55154206	55134791	A A	AGGGGAGG others(240): Show AGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGG GAGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAA TAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGAAGAGGG GAGGGGAGGGGAGGAAAGGGGAGGGGAGGAGAGAAGAGGGGAGGGGAGGG GAGGAAAGGGGAGGAAAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0044 a0001c0001t0004g0044	1	320	0.0031	247	c.612 others(262): Show c.612-588_612-587insCTCTTCTCCCCTCCCCTCTTCTCCCCTCCC CTTTCCTCCCCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCCC CTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCTC CTCCCCTCCCCTCCCCTATTTTCCCATCCCCTCTCCTCCCCTCTTCTCCC CTCCCGTCTTCTGCCCTCCCCCTCTCCTCCCCTCTTCTCCGCTCTCCTCC CCTCTTCTCCCCTCCCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TNNT1_chr19_55127698_55154206	55134791	A A	AGGGGAGG others(240): Show AGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGGAGGAGAGGG GAGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAA TAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGAAGAGGG GAGGGGAGGGGAGGAAAGGGGAGGGGAGGAGAGAAGAGGGGAGGGGAGGG GAGGAAAGGGGAGGAAAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGAG	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	320	0.0031	247	c.612 others(262): Show c.612-588_612-587insCTCTTCTCCCCTCCCCTCTTCTCCCCTCCC CTTTCCTCCCCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCCC CTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCTC CTCCCCTCCCCTCCCCTATTTTCCCATCCCCTCTCCTCCCCTCTTCTCCC CTCCCGTCTTCTGCCCTCCCCTCTCCTCCCCCTCTTCTCCGCTCTCCTCC CCTCTTCTCCCCTCCCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930541	T T	TGGGGGTT others(240): Show TGGGGGTTAGGAAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGACCA AGGGTCAGGGAGGCCAGGGGTCAGGGAGGCCAGGGTTAGGGAGGCTGGGG TTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGG GAGACCAAGGGTCAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG02922.hp1 HG01123.hp1 HG02922.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0011 a0002c0002 a0009c0011	a0002c0002t0002 a0009c0011t0013 a0002c0002t0002 a0009c0011t0013	a0002c0002t0002g0059 a0009c0011t0013g0151 a0002c0002t0002g0059 a0009c0011t0013g0151	2	466	0.0043	247	c.50 others(258): Show c.5049_*5050insTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGC CTCCCTAACCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCC TGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCTAACCCCAGCCTCCCTAACCCTGGCCTCCCTGACCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCCTGGCCTCCCTAACCCCAGC CTTCCTAACCCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4828		chr11	TogoVar
TPO_chr2_1408463_1548673	1536020	C C	CCCCCCAG others(240): Show CCCCCCAGTTTGCAACCTCCCAAAATCTCCCTATGTGCAACCTCGCAAAA TCTCCCCCACTATGTGCAACCTCCTCAAATCCCCCCACTGTGTCCAACCT CCCCAAATCCCTCCCACTGTGTGCAACCTCCTCTAGTCCCCCACTGTGTG CACCCCCCAAAAATCCCCCCACTGTGTGCAACCTCCTCAAATCCCCCTAC TGCGAGCAACCTCCTCAAATCTCTCCACTGTGTGCAACCTCCCCAAAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01081.hp1 HG01192.hp2 others(7): Show HG00597.hp2 HG01081.hp1 HG01192.hp2 HG01978.hp2 HG02040.hp1 NA18962.hp1 NA18971.hp1 NA19240.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0006 others(2): Show a0002 a0004 a0006 a0007 a0014	a0002c0002 a0004c0007 a0004c0032 others(3): Show a0002c0002 a0004c0007 a0004c0032 a0006c0013 a0007c0021 a0014c0030	a0002c0002t0009 a0002c0002t0014 a0004c0007t0004 others(5): Show a0002c0002t0009 a0002c0002t0014 a0004c0007t0004 a0004c0007t0008 a0004c0032t0008 a0006c0013t0012 a0007c0021t0004 a0014c0030t0004	a0002c0002t0009g0062 a0002c0002t0014g0008 a0004c0007t0004g0109 others(7): Show a0002c0002t0009g0062 a0002c0002t0014g0008 a0004c0007t0004g0109 a0004c0007t0004g0116 a0004c0007t0008g0049 a0004c0007t0008g0102 a0004c0032t0008g0108 a0006c0013t0012g0067 a0007c0021t0004g0031 a0014c0030t0004g0115	10	130	0.0769	247	c.261 others(266): Show c.2619-4568_2619-4567insGTTTGCAACCTCCCAAAATCTCCCTA TGTGCAACCTCGCAAAATCTCCCCCACTATGTGCAACCTCCTCAAATCCC CCCACTGTGTCCAACCTCCCCAAATCCCTCCCACTGTGTGCAACCTCCTC TAGTCCCCCACTGTGTGCACCCCCCAAAAATCCCCCCACTGTGTGCAACC TCCTCAAATCCCCCTACTGCGAGCAACCTCCTCAAATCTCTCCACTGTGT GCAACCTCCCCAAATCCCCCA	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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