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
CAMKK1_chr17_3855315_3898053	3868210	C C	CTCTGGGG others(425): Show CTCTGGGGGAGACGCAGGCCCGTCTAACTGATACGTGGGCTCTGGGGGAG ACGCAGGCCCGTCTAACTGATACGCGGGATCTGGGGGAGACGCAGGCCCG TCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGAT ACGTGGGCACGGGGGAGATGCAGGCACCGTCTAACTGATACGCGGGCTCT GGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAGACG CAGGCCCGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTC TAACTGATACGTGGGCTCTGGGGGAGACGCAGGCCCGTCTAACTGATACG TGGGCTCTGGGGGAGACGCAGGCCCGTCTAACTGATACGCGGGATCTGGG GGAGACGCAGGCCCGTCTAACTGATACGCGGGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp2 HG02886.hp2 others(2): Show HG02622.hp1 HG02717.hp2 HG02886.hp2 HG02970.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0003t0029 a0001c0003t0031 others(2): Show a0001c0003t0003 a0001c0003t0029 a0001c0003t0031 a0001c0003t0050 a0001c0004t0006	a0001c0003t0003g0368 a0001c0003t0029g0412 a0001c0003t0031g0427 others(2): Show a0001c0003t0003g0368 a0001c0003t0029g0412 a0001c0003t0031g0427 a0001c0003t0050g0185 a0001c0004t0006g0198	5	446	0.0112	432	c.134 others(451): Show c.1341+1276_1341+1277insTCCCGCGTATCAGTTAGACGGGCCTG CGTCTCCCCCAGATCCCGCGTATCAGTTAGACGGGCCTGCGTCTCCCCCA GAGCCCACGTATCAGTTAGACGGGCCTGCGTCTCCCCCAGAGCCCACGTA TCAGTTAGACGGCGCCTGCTTCTCCCCCAGAGCCCACGTATCAGTTAGAC GGGCCTGCGTCTCCCCCAGAGCCCACGTATCAGTTAGACGGCGCCTGCTT CTCCCCCAGAGCCCGCGTATCAGTTAGACGGTGCCTGCATCTCCCCCGTG CCCACGTATCAGTTAGACGGCGCCTGCTTCTCCCCCAGAGCCCACGTATC AGTTAGACGGGCCTGCGTCTCCCCCAGATCCCGCGTATCAGTTAGACGGG CCTGCGTCTCCCCCAGAGCCCACGTATCAGTTAGACGGGCCTGCGTCTCC CCCAGA	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(425): Show ATATATATAATTATATATATAATTATATATATATAATTATATATATATAA TTATATATTTTTATATATATAATTATATATATAATTTTATATATATATAA TTATATATAATTATATATATATAATTATATATATTATATATATAATTATA TATATATATTATATATATAATTTTATATATATATAATTATATATATAATT TTATATATATAATTATATATATATAAAATTATATATATAATTTTATATAT AAAATTATATATATAATTTTATATATATAATTATATATATAATTTTATAT ATATATAATTATATATATATAATTTTATATATATAATTATATATATATAA AATTATATATATAATTATATATATATAATTTTATATATATATAATTATAT ATAATTTTATATATATATAATTATATATATAAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0128 a0002c0004t0002g0128	1	330	0.0030	432	c.907 others(447): Show c.907+283_907+284insATTATATATATAATTATATATATATAAAAT TATATATAATTATATATATATAAAATTATATATATATAATTATATATATA ATTTTATATATATATAATTATATATATAAAATTATATATATATAATTATA TATATATAAAATTATATATATAATTATATATATAAAATTATATATATAAT TTTATATATAAAATTATATATATAATTTTATATATATATAATTATATATA TAAAATTATATATATAATTATATATATATAAAATTATATATATAATATAT ATATATAATTATATATATAATATATATAATTATATATATATAATTATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAAATATA TAATTATATATATATAATTATATATATATAATTATATATATAATTATATA TA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(425): Show ATATATATAATTATATATATAATTATATATATATAATTATATATATATAA TTATATATTTTTATATATATAATTATATATATAATTTTATATATATATAA TTATATATAATTATATATATATAATTATATATATTATATATATAATTATA TATATATATTATATATATAATTTTATATATATATAATTATATATATAATT TTATATATATAATTATATATATATAAAATTATATATATAATTTTATATAT AAAATTATATATATAATTTTATATATATAATTATATATATAATTTTATAT ATATATAATTATATATATATAATTTTATATATATAATTATATATATATAA TTTTATATATATAATTATATATATATAATTTTATATATATATAATTATAT ATAATTTTATATATATATAATTATATATATAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01175.hp2 HG01517.hp1 others(1): Show HG00140.hp2 HG01175.hp2 HG01517.hp1 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0005c0015 a0001c0001 a0005c0012 a0005c0015	a0001c0001t0002 a0005c0012t0002 a0005c0015t0002 a0001c0001t0002 a0005c0012t0002 a0005c0015t0002	a0001c0001t0002g0110 a0005c0012t0002g0111 a0005c0012t0002g0113 others(1): Show a0001c0001t0002g0110 a0005c0012t0002g0111 a0005c0012t0002g0113 a0005c0015t0002g0112	4	330	0.0121	432	c.907 others(447): Show c.907+283_907+284insATTATATATATAATTATATATATATAAAAT TATATATAATTATATATATATAAAATTATATATATATAATTATATATATA AAATTATATATATATAATTATATATATAAAATTATATATATATAATTATA TATATATAAAATTATATATATAATTATATATATAAAATTATATATATAAT TTTATATATAAAATTATATATATAATTTTATATATATATAATTATATATA TAAAATTATATATATAATTATATATATATAAAATTATATATATAATATAT ATATATAATTATATATATAATATATATAATTATATATATATAATTATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAAATATA TAATTATATATATATAATTATATATATATAATTATATATATAATTATATA TA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN15_chr16_522712_559636	544715	A A	ACGTCGTC others(425): Show ACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCC CCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCC TCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTC GTCGCCTCCCCCACGTCGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0241 a0001c0002t0003g0241	1	410	0.0024	432	c.-22 others(449): Show c.-22-2097_-22-2096insTCGTCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCTCACGTCGTCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCTCACG TCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTC GTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544867	C C	CCTCCCCC others(425): Show CCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTC CCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTC GTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCT CACGTCGTCGTCTCCCCCCACGTCGTCGTCTCCCCTCACGTCGTCGTCTC CCCTCACGTCGTCGTCTCCCCCCACGTCGTCGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0002 a0007c0023t0002	a0007c0023t0002g0359 a0007c0023t0002g0359	1	410	0.0024	432	c.-22 others(449): Show c.-22-1944_-22-1943insCACGTCGTCGCCTCCCCCACGTCGTCGC CTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCAC GTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGT CGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCT CACGTCGCCTCCCCTCACGTCGTCGTCTCCCCCCACGTCGTCGTCTCCCC TCACGTCGTCGTCTCCCCTCACGTCGTCGTCTCCCCCCACGTCGTCGTCT CCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASZ1_chr1_10631604_10801646	10744344	C C	CGGCACCA others(425): Show CGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGG GCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGC ACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCAC CACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCA CGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACG AGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAG CAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCA GGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGG CATGTCCTGGGCACCACGAGCAGGCATGTCCTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0012 a0012	a0012c0040 a0012c0040	a0012c0040t0043 a0012c0040t0043	a0012c0040t0043g0066 a0012c0040t0043g0066	1	236	0.0042	432	c.-77 others(451): Show c.-77+16356_-77+16357insCAGGACATGCCTGCTCGTGGTGCCCA GGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGG ACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGAC ATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACAT GCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGC CTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCT GCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGC TCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTC GTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGT GGTGCC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CCDC15_chr11_124949202_125046489	125025067	A A	AATATATA others(425): Show AATATATATATGAATATATATATGAATATATATGAATATATATATGAATA TATATATGAATATATATGAATATATATATGAATATATATATGAATATATA TGAATATATATATGAATATATATATGAATATATATGAATATATATATGAA TATATATATGAATATATATGAATATATATATGAATATATATATGAATATA TATGAATATATATGAATATATATATGAATATATATATGAATATATATGAA TATATATATGAATATATATATGAATATATATGAATATATATGAATATATA TATGAATATATATATGAATATATATGAATATATATATGAATATATATATG AATATATATGAATATATATATGAATATATATATGAATATATATATGAATA TATATGAATATATATATGAATATATATGAATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0106 a0002c0002t0001g0106	1	350	0.0029	432	c.241 others(453): Show c.2412-13358_2412-13357insATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATGAATATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATATGAATATATAT GAATATATATGAATATATATATGAATATATATATGAATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT ATGAATATATATATGAATATATATGAATATATATATGAATATATATGAAT ATATATAT	CCDC15	ENSG00000149548.15	transcript	ENST00000344762.6	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(425): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0189 a0001c0001t0007g0189	1	256	0.0039	432	c.-45 others(453): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCC CCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCTCCCC TCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(425): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	256	0.0039	432	c.-45 others(453): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCC CCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTTC others(425): Show CCCCCTTCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCT CCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCC CCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCTC TCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0044 a0001c0001t0006g0044	1	256	0.0039	432	c.-45 others(453): Show c.-455+14580_-455+14581insTCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCC CCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCT CTCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTC CCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCC TCTCCCCT	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(425): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0166 a0007c0007t0002g0166	1	334	0.0030	432	c.-25 others(443): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(425): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	334	0.0030	432	c.-25 others(443): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(425): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0158 a0001c0001t0054g0158	1	334	0.0030	432	c.-25 others(443): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(425): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTA GTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAG GTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGT GGTAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0028 a0028	a0028c0064 a0028c0064	a0028c0064t0002 a0028c0064t0002	a0028c0064t0002g0227 a0028c0064t0002g0227	1	334	0.0030	432	c.-25 others(443): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTACCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAGAAAGA others(425): Show AAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGA AAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAA GAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGA AAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGA AAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA AAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAG GAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02683.hp1 HG01255.hp2 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0158 a0001c0002t0002g0171 a0001c0002t0002g0158 a0001c0002t0002g0171	2	258	0.0078	432	c.403 others(447): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTTT CTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCT CTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTT CT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAGAAAGA others(425): Show AAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGA AAGAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAA GAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAAGGAAAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0163 a0001c0002t0002g0163	1	258	0.0039	432	c.403 others(447): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTCTTTCCTTTTCT TTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTTTCTTTCT TTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTCT TTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCT CTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTT CT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(425): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(56): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02451.hp2 HG02602.hp1 HG02647.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp2 NA18952.hp1 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18973.hp2 NA18975.hp1 NA18979.hp2 NA19007.hp2 NA19010.hp2 NA19065.hp1 NA19066.hp1 NA19079.hp1 NA19084.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0009 a0010	a0001c0002 a0002c0001 a0002c0013 others(3): Show a0001c0002 a0002c0001 a0002c0013 a0005c0012 a0009c0016 a0010c0015	a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 others(6): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0021 a0002c0001t0001 a0002c0013t0001 a0005c0012t0001 a0009c0016t0001 a0010c0015t0003	a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0005 others(15): Show a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0011 a0001c0002t0001g0021 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0062 a0001c0002t0003g0001 a0001c0002t0003g0061 a0001c0002t0008g0001 a0001c0002t0021g0001 a0002c0001t0001g0001 a0002c0013t0001g0001 a0005c0012t0001g0005 a0009c0016t0001g0011 a0010c0015t0003g0001	59	354	0.1667	432	c.69 others(443): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCC TCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(425): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCTTCCCTCCTCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	354	0.0028	432	c.69 others(443): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCTT CCCTCCTCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCC TCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP47_chrX_35914734_36390317	35966189	A A	ACTAATAT others(425): Show ACTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA AATATTAGCTGCTAATATTTAAGAAATATTAGCAGCTAATATTTAAGAAA TATTAGCTGCTAATATTTAAGAAATATTAGCTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0042 a0042	a0042c0060 a0042c0060	a0042c0060t0001 a0042c0060t0001	a0042c0060t0001g0208 a0042c0060t0001g0208	1	216	0.0046	432	c.141 others(449): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCAGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35966189	A A	ACTAATAT others(425): Show ACTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA AATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA TATTAGCTGCTAATATTTAAGAAATATTAGCTG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0053 a0053	a0053c0059 a0053c0059	a0053c0059t0001 a0053c0059t0001	a0053c0059t0001g0215 a0053c0059t0001g0215	1	216	0.0046	432	c.141 others(449): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35966189	A A	ACTAATAT others(425): Show ACTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGC TAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTA ATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAAT ATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATAT TTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTT AAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAA GAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGA GATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGA TATTAGCTGCTAATATTTAAGAGATATTAGCTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19240.hp1 HG02630.hp1 NA19240.hp1	a0005 a0052 a0005 a0052	a0005c0005 a0052c0036 a0005c0005 a0052c0036	a0005c0005t0001 a0052c0036t0001 a0005c0005t0001 a0052c0036t0001	a0005c0005t0001g0009 a0052c0036t0001g0010 a0005c0005t0001g0009 a0052c0036t0001g0010	2	216	0.0093	432	c.141 others(449): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAGATA TTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATT AGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAG CTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCT GCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGC TAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTA ATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAAT ATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATAT TTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTT AAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP74_chr1_1916957_2008786	1929446	A A	AGGAAGAG others(425): Show AGGAAGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGGAGAGGGGAGGGA GGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGGAGGGGAGAGGGTAGGG AGGGAGGGAGAGGAGAGGGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTAG GGAGGGAGGGAGAGGAGAGGGGAGGGAGGGAGGGGAGGAGGGGAGAGGGT AGGGAGGGAGGGAGAGAGGAGGGAGGGAGGGCAGGAGGGGAGAGGGTAGG GAGGGAGGGCAGGAGGGGAGAGGGTAGGGAGAGGGAGGGCAGGAGGGGAG AGGGTAGGGAGGGAGGGGAGGAAGGGAGAGGGTAGGGAGGGGAGGGGAGA GGAGGGGAGGGAGGAGGGAGGGGTGAGGGGAGGGAGGGAGGGTGAGGGTA GGGGAGGAGGGAGGAGGGGAGGGAGGGAGGGTG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0001 a0006c0026t0001	a0006c0026t0001g0270 a0006c0026t0001g0270	1	278	0.0036	432	c.328 others(449): Show c.3289-565_3289-564insCACCCTCCCTCCCTCCCCTCCTCCCTCC TCCCCTACCCTCACCCTCCCTCCCTCCCCTCACCCCTCCCTCCTCCCTCC CCTCCTCTCCCCTCCCCTCCCTACCCTCTCCCTTCCTCCCCTCCCTCCCT ACCCTCTCCCCTCCTGCCCTCCCTCTCCCTACCCTCTCCCCTCCTGCCCT CCCTCCCTACCCTCTCCCCTCCTGCCCTCCCTCCCTCCTCTCTCCCTCCC TCCCTACCCTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCCTC CCTCCCTACCCTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCC TCCCTCCCTACCCTCTCCCCTCCTCCCTCCCTCCCTACCCTCTCCCCTCC TCCCCTCCCTCCCCTCTCCTCTCCCTCCCTCCCTACCCTCTCCCCTCCTC TTCC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	26/38			chr1	TogoVar
CHM_chrX_85856180_86052558	85911175	G G	GTGTGTAT others(425): Show GTGTGTATATATATATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATGAATATATATGAATATATAT ATGAATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATATGAAT ATATATATATGAATATATATATATGAATATATATATATGAATATATATAT GAATATATATATATGAATATATATATATGAATATATATATATGAATATAT ATATGAATATATATATATGAATATATATATATGAATATATATATATGAAT ATATATATATGAATATATATATATGAATATATATATATGAATATATATAT ATGAATATATATATATGAATATATATATATGAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0042 a0001c0002t0002g0042	1	245	0.0041	432	c.124 others(447): Show c.1244+85_1244+86insTTCATATATATATATTCATATATATATATT CATATATATATATTCATATATATATATTCATATATATATATTCATATATA TATATTCATATATATATATTCATATATATATATTCATATATATATATTCA TATATATATTCATATATATATATTCATATATATATATTCATATATATATA TTCATATATATATTCATATATATATATTCATATATATATATTCATATATA TATATTCATATATATATTCATATATATATTCATATATATATTCATATATA TATTCATATATATATTCATATATATATTCATATATATATTCATATATATT CATATATATATTCATATATATTCATATATATTCATATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATATATATATACA CA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CLTCL1_chr22_19174473_19296719	19202393	A A	ACCCTCCT others(425): Show ACCCTCCTTCCGCCATCCACGGCACCTCCCCCACCAACCCTCCTTCCGCC ATCCACGGCACCTCCCCCACCACCCCTCCTTCCGTCATCCACGGCACCTC CCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTC CTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCAC GGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCAC CACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCG CCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACC TCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCGCACCACCCC TCCTTCCGCCATCCACGGCACCTCCCGCACCAC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18962.hp1 NA18994.hp1 NA18941.hp2 NA18962.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0277 a0001c0002t0003g0084 a0001c0002t0003g0085 a0001c0002t0001g0277 a0001c0002t0003g0084 a0001c0002t0003g0085	3	346	0.0087	432	c.360 others(449): Show c.3601-901_3601-900insGTGGTGCGGGAGGTGCCGTGGATGGCGG AAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTG GGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTG GATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAG GGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAG GTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGC GGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGG TGGGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGGGGGAGGTGCCG TGGATGGCGGAAGGAGGGTTGGTGGGGGAGGTGCCGTGGATGGCGGAAGG AGGG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CNOT1_chr16_58514951_58634826	58586397	G G	GGGGAGGG others(425): Show GGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAG GGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGG GGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGGACTGGAGGGGAGG GGACGGGAGGGGGGAGGGGGAGGGGAGGGGGGACTGGAGGGGAGGGGAGG GGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGA GAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGA AGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAAGGG AAGGGGAGGGAAGGGGAGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGG GGAGGGGAAGGGGAGGAGGGGGAGGGGAGGGCA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0132 a0001c0002t0003g0132	1	308	0.0033	432	c.637 others(447): Show c.637+147_637+148insTGCCCTCCCCTCCCCCTCCTCCCCTTCCCC TCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCTTCCCTCCC CTTCCCTTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCC CCTTCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCC CTCTCCTCCCCTTCCCCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCT TCCCCTCCCCTCCCCTCCAGTCCCCCCTCCCCTCCCCCTCCCCCCTCCCG TCCCCTCCCCTCCAGTCCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCT CCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCT CCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTC CC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(425): Show CCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTTCC CTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCT CTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCA CCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCC CTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTC TCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCT CCACCTTCCCTGTCTCCACCTCCCCTCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	223	0.0045	432	c.-42 others(443): Show c.-4215_-4214insCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCC CTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCT CTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCC CTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCC CTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
COL23A1_chr5_178232618_178595393	178585726	C C	CGCCCTAC others(425): Show CGCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATG GCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTA CAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGG GGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCT GGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAACG CCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGC GCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACA GCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGG TAATGCCCTACAGCCCTGGATGGCGCTGGGGTA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18999.hp1 NA18973.hp2 NA18999.hp1	a0003 a0014 a0003 a0014	a0003c0005 a0014c0012 a0003c0005 a0014c0012	a0003c0005t0002 a0014c0012t0002 a0003c0005t0002 a0014c0012t0002	a0003c0005t0002g0163 a0014c0012t0002g0162 a0003c0005t0002g0163 a0014c0012t0002g0162	2	236	0.0085	432	c.294 others(449): Show c.294+4177_294+4178insTACCCCAGCGCCATCCAGGGCTGTAGGG CATTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCC AGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACC CCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTG TAGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGC CATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGGCG TTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAG GGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCC AGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTA GGGC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL4A2_chr13_110302284_110518209	110385716	A A	ACAGTGTG others(425): Show ACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTAC AGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGA TGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGCTGCAGTGTGTGGATG GGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGCGTGTGGATGGG CCGTGGTTACAGTGTGTGGATAGGCCGTGGTTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02965.hp1 HG02970.hp1 others(4): Show HG01884.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03225.hp2 NA19043.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0021 a0001c0110 a0001c0124 others(4): Show a0001c0021 a0001c0110 a0001c0124 a0002c0013 a0002c0130 a0003c0006 a0003c0038	a0001c0021t0019 a0001c0110t0019 a0001c0124t0010 others(4): Show a0001c0021t0019 a0001c0110t0019 a0001c0124t0010 a0002c0013t0002 a0002c0130t0007 a0003c0006t0008 a0003c0038t0008	a0001c0021t0019g0130 a0001c0110t0019g0129 a0001c0124t0010g0030 others(4): Show a0001c0021t0019g0130 a0001c0110t0019g0129 a0001c0124t0010g0030 a0002c0013t0002g0265 a0002c0130t0007g0029 a0003c0006t0008g0038 a0003c0038t0008g0027	7	372	0.0188	432	c.180 others(451): Show c.180+28176_180+28177insGGACCGTGGTTACAGTGTGTGGATAG GCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGC CGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTG GTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGT TACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTA CAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGCTGCA GTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGC GTGTGGATGGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGT GTGGAT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL9A3_chr20_62812050_62846159	62825106	A A	AGGGAGGG others(425): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAG GGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTG GGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGG CTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCT CCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	412	0.0024	432	c.630 others(447): Show c.630+131_630+132insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGG GCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGC TCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTC CGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCG GCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGC GG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(425): Show AGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGG AGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTG GGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGG CTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCT CCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0003 a0001c0048t0003	a0001c0048t0003g0113 a0001c0048t0003g0113	1	412	0.0024	432	c.630 others(447): Show c.630+131_630+132insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGG GCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGC TCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTC CGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCG GCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGC GG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(425): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAG GGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGC TGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTG GGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGG CTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCT CCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0299 a0001c0003t0001g0299	1	412	0.0024	432	c.630 others(447): Show c.630+155_630+156insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCT GGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGG GCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGC TCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTC CGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCG GCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGC GG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
CRLF2_chrX_1185490_1217649	1198339	C C	CCCAGGAA others(425): Show CCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTC CCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCA GGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCAC CTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCC TCCCTCCCACCTCCTAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGG AAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACAGCCTCCCTCCC ACCTCCCGGGAAGATAGGACACCCTCCCTCCCACCTCCCGGGAAGACAGG ACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCT CGAAGGCAGGACAGCCTCCCTCCCACCTCCCGG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0076 a0002c0004t0001g0076	1	167	0.0060	432	c.646 others(447): Show c.646+222_646+223insCCGGGAGGTGGGAGGGAGGCTGTCCTGCCT TCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGG TGTCCTGTCTTCCCGGGAGGTGGGAGGGAGGGTGTCCTATCTTCCCGGGA GGTGGGAGGGAGGCTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGC CTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTAGGAGGTGGGAG GGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTC GAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTG TCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGG AGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCT GG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CRTC3_chr15_90524923_90650345	90647359	A A	ACACCCCT others(425): Show ACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTC CTCCACACCCCTCTTCCTCCTCCATACCCCTCCTCCTCAACCCTCCTCCT TCACACCCCTCACCCCTTTTCCACATCCCTCCTCCTTGCCCCTCCTCCTC ACCCTTTGTCCTCCTCCACACCCCTTCTCCTCCTCCATACCCCTCCTTCT CAACCCTCCTCCTCCACACCCCTCCTCCTCACCCCTTCTCCTCCTCCACA CCTGTCCTCCTCCACACTCATCCTCCTCACCGTTCCTCCACCACATCCCT CCTCCTCCACACCCCTCCTCACCCCTTGTCCTCCTCCAAACGCTTCTTCC TCCTGTTTCTTCCTCCACACCCCTCCTGCTCCACATCCCTCCCCCTCCAT CCCCTCCACACCCCTCCCCCTCCTCACCCCGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02451.hp1 HG02735.hp1 others(2): Show HG01099.hp2 HG02451.hp1 HG02735.hp1 HG03688.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0010 a0003c0003t0001 a0001c0001t0001 a0001c0001t0010 a0003c0003t0001	a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0010g0141 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0010g0141 a0001c0001t0010g0142 a0003c0003t0001g0060	5	276	0.0181	432	c.52 others(443): Show c.5219_*5220insCACCCCTCCTCCTCCTCCACACCCCTCCTCCTCC TCCACACCCCTCCTCCTCCACACCCCTCTTCCTCCTCCATACCCCTCCTC CTCAACCCTCCTCCTTCACACCCCTCACCCCTTTTCCACATCCCTCCTCC TTGCCCCTCCTCCTCACCCTTTGTCCTCCTCCACACCCCTTCTCCTCCTC CATACCCCTCCTTCTCAACCCTCCTCCTCCACACCCCTCCTCCTCACCCC TTCTCCTCCTCCACACCTGTCCTCCTCCACACTCATCCTCCTCACCGTTC CTCCACCACATCCCTCCTCCTCCACACCCCTCCTCACCCCTTGTCCTCCT CCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTCCACA TCCCTCCCCCTCCATCCCCTCCACACCCCTCCCCCTCCTCACCCCGTC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2015		chr15	TogoVar
CSF2RA_chrX_1263814_1314935	1295074	G G	GCCAGTGT others(425): Show GCCAGTGTAGACAAGAGGAGATCTTGTCCCACAACCACCTGGACCCAGTG TAGACAAGAAGGAGAGACTGCCCCACCTCCATGGAGACCCAGTGTAGACA GGAGGAGCTCTTGTCCCACAACTACCTGGACCCAGTGTAGACAGGAGGAG CTCTTGTCCCACAACCACCTGGACCCAGTGTAGACAAGAAGGAGAGACTG CCCCATGTCTACCTGGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACC TCCAACTACACGCAGTGTAGACAGAAGGAGACCCTGCCCCACCTCCATGG AGACCCAGTGTAGACAGGAGGAGCTCTTGTCCCACAGCTACCTGGACCCA GTGTAGACAGGAGGAGCTCTTGTCCCACAACCACCTGGACCCAGTGTAGA CAGGAAGAGAGACTGCCTCACATCCACCTCGAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp2 others(62): Show HG00140.hp1 HG00408.hp2 HG00423.hp2 HG00639.hp1 HG01070.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01975.hp2 HG01993.hp1 HG02056.hp2 HG02109.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02559.hp2 HG02683.hp2 HG02809.hp1 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03704.hp2 HG03927.hp2 HG04115.hp1 NA18943.hp1 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18961.hp1 NA18969.hp2 NA18973.hp1 NA18975.hp1 NA18980.hp2 NA18982.hp1 NA18998.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19062.hp1 NA19064.hp2 NA19080.hp1 NA19081.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0010 a0012	a0001c0001 a0001c0002 a0001c0018 others(6): Show a0001c0001 a0001c0002 a0001c0018 a0002c0003 a0002c0004 a0003c0009 a0006c0013 a0010c0011 a0012c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0018t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0004t0004 a0002c0004t0005 a0002c0004t0007 a0003c0009t0002 a0006c0013t0003 a0010c0011t0010 a0012c0012t0004	a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0064 others(62): Show a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0002g0016 a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0061 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0079 a0001c0001t0002g0102 a0001c0001t0003g0024 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0133 a0001c0001t0003g0148 a0001c0001t0004g0049 a0001c0001t0004g0065 a0001c0001t0004g0072 a0001c0001t0004g0094 a0001c0001t0005g0155 a0001c0001t0012g0062 a0001c0001t0013g0004 a0001c0001t0014g0043 a0001c0002t0001g0052 a0001c0002t0001g0077 a0001c0002t0001g0103 a0001c0002t0002g0018 a0001c0002t0002g0112 a0001c0002t0003g0035 a0001c0002t0003g0059 a0001c0002t0003g0080 a0001c0002t0003g0122 a0001c0002t0004g0038 a0001c0002t0004g0063 a0001c0002t0004g0098 a0001c0002t0004g0110 a0001c0002t0004g0132 a0001c0002t0005g0123 a0001c0018t0003g0107 a0002c0003t0001g0147 a0002c0003t0002g0005 a0002c0003t0002g0029 a0002c0003t0002g0141 a0002c0003t0002g0145 a0002c0003t0005g0010 a0002c0003t0005g0137 a0002c0004t0004g0023 a0002c0004t0005g0125 a0002c0004t0005g0127 a0002c0004t0005g0130 a0002c0004t0007g0152 a0003c0009t0002g0104 a0006c0013t0003g0153 a0010c0011t0010g0054 a0012c0012t0004g0089	65	159	0.4088	432	c.781 others(447): Show c.781-288_781-287insACTGCCCCACCTCCATGGAGACCCAGTGTA GACAGGAGGAGCTCTTGTCCCACAACTACCTGGACCCAGTGTAGACAGGA GGAGCTCTTGTCCCACAACCACCTGGACCCAGTGTAGACAAGAAGGAGAG ACTGCCCCATGTCTACCTGGACCCAGTGTAGACAGGAGGAGACCCTGCCC CACCTCCAACTACACGCAGTGTAGACAGAAGGAGACCCTGCCCCACCTCC ATGGAGACCCAGTGTAGACAGGAGGAGCTCTTGTCCCACAGCTACCTGGA CCCAGTGTAGACAGGAGGAGCTCTTGTCCCACAACCACCTGGACCCAGTG TAGACAGGAAGAGAGACTGCCTCACATCCACCTCGATCCAGTGTAGACAA GAGGAGATCTTGTCCCACAACCACCTGGACCCAGTGTAGACAAGAAGGAG AG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1295074	G G	GCCAGTGT others(425): Show GCCAGTGTAGACAAGAGGAGATCTTGTCCCACAACCACCTGGACCCAGTG TAGACAAGAAGGAGAGACTGCCCCACCTCCATGGAGACCCAGTGTAGACA GGAGGAGCTCTTGTCCCACAACTACCTGGACCCAGTGTAGACAGGAGGAG CTCTTGTCCCACAACCTCCTGGACCCAGTGTAGACAAGAAGGAGAGACTG CCCCATGTCTACCTGGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACC TCCAACTACACGCAGTGTAGACAGAAGGAGACCCTGCCCCACCTCCATGG AGACCCAGTGTAGACAGGAGGAGCTCTTGTCCCACAGCTACCTGGACCCA GTGTAGACAGGAGGAGCTCTTGTCCCACAACCACCTGGACCCAGTGTAGA CAGGAAGAGAGACTGCCTCACATCCACCTCGAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01884.hp2 HG02622.hp1 others(10): Show HG01433.hp1 HG01884.hp2 HG02622.hp1 HG02630.hp2 HG02922.hp2 HG02976.hp1 HG03139.hp1 HG03516.hp2 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0002 a0001c0014 a0002c0003 others(5): Show a0001c0002 a0001c0014 a0002c0003 a0002c0006 a0002c0019 a0003c0009 a0005c0008 a0007c0017	a0001c0002t0005 a0001c0002t0009 a0001c0014t0005 others(8): Show a0001c0002t0005 a0001c0002t0009 a0001c0014t0005 a0002c0003t0001 a0002c0003t0002 a0002c0006t0002 a0002c0019t0002 a0003c0009t0002 a0005c0008t0001 a0005c0008t0007 a0007c0017t0001	a0001c0002t0005g0134 a0001c0002t0005g0135 a0001c0002t0009g0011 others(10): Show a0001c0002t0005g0134 a0001c0002t0005g0135 a0001c0002t0009g0011 a0001c0014t0005g0150 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0002g0140 a0002c0006t0002g0126 a0002c0019t0002g0006 a0003c0009t0002g0142 a0005c0008t0001g0138 a0005c0008t0007g0139 a0007c0017t0001g0143	13	159	0.0818	432	c.781 others(447): Show c.781-288_781-287insACTGCCCCACCTCCATGGAGACCCAGTGTA GACAGGAGGAGCTCTTGTCCCACAACTACCTGGACCCAGTGTAGACAGGA GGAGCTCTTGTCCCACAACCTCCTGGACCCAGTGTAGACAAGAAGGAGAG ACTGCCCCATGTCTACCTGGACCCAGTGTAGACAGGAGGAGACCCTGCCC CACCTCCAACTACACGCAGTGTAGACAGAAGGAGACCCTGCCCCACCTCC ATGGAGACCCAGTGTAGACAGGAGGAGCTCTTGTCCCACAGCTACCTGGA CCCAGTGTAGACAGGAGGAGCTCTTGTCCCACAACCACCTGGACCCAGTG TAGACAGGAAGAGAGACTGCCTCACATCCACCTCGATCCAGTGTAGACAA GAGGAGATCTTGTCCCACAACCACCTGGACCCAGTGTAGACAAGAAGGAG AG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1295121	G G	GTGTAGAC others(425): Show GTGTAGACAAGAAGGAGAGACTGCCCCACCTCCATGGAGACCCAGTGTAG ACAGGAGGAGCTCTTGTCCCACAACTACCTGGACCCAGTGTAGACAGGAG GAGCTCTTGTCCCACAACCACCTGGACCCAGTGTAGACAAGAAGGAGAGA CTGCCCCATGTCTACCTGGACCCAGTGTAGACAGGAGGAGACCCTGCCCC ACCTCCAACTACACGCAGTGTAGACAGAAGGAGACCCTGCCCCACCTCCA TGGAGACCCAGTGTAGACAGGAGGAGCTCTTGTCCCACAGCTACCTGGAC CCAGTGTAGACAGGAGGAGCTCTTGTCCCACAACCACCTGGACCCAGTGT AGACAGGAAGAGAGACTGCCTCACATCCACCTCGATCCAGTGTAGACAAG AGGAGATCTTGTCCCACAACCACCTGGACCCAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA21309.hp1 HG02109.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0020 a0001c0002 a0003c0020	a0001c0002t0005 a0003c0020t0005 a0001c0002t0005 a0003c0020t0005	a0001c0002t0005g0040 a0003c0020t0005g0129 a0001c0002t0005g0040 a0003c0020t0005g0129	2	159	0.0126	432	c.781 others(447): Show c.781-288_781-287insACTGCCCCACCTCCATGGAGACCCAGTGTA GACAGGAGGAGCTCTTGTCCCACAACTACCTGGACCCAGTGTAGACAGGA GGAGCTCTTGTCCCACAACCACCTGGACCCAGTGTAGACAAGAAGGAGAG ACTGCCCCATGTCTACCTGGACCCAGTGTAGACAGGAGGAGACCCTGCCC CACCTCCAACTACACGCAGTGTAGACAGAAGGAGACCCTGCCCCACCTCC ATGGAGACCCAGTGTAGACAGGAGGAGCTCTTGTCCCACAGCTACCTGGA CCCAGTGTAGACAGGAGGAGCTCTTGTCCCACAACCACCTGGACCCAGTG TAGACAGGAAGAGAGACTGCCTCACATCCACCTCGATCCAGTGTAGACAA GAGGAGATCTTGTCCCACAACCACCTGGACCCACTGTAGACAAGAAGGAG AG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSNK1G2_chr19_1936172_1986338	1967976	C C	CCCAGGCT others(425): Show CCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGGCTCCTCCC TCCTCCCCAGGCTGCCCCCACCACCCTTCAGTTCTGCAGGTGGGGCTCCT CCCTCCTCCCTCCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAG GTGGGGCTCCTCCCCAGGCTGTCCCTGACCACCCTTCAGTTCTGCAGGTG GGGGCTCCTCCCTCCTCCCCAGGCTGCCCCGACCACCCTTCAGTTCTGCA GGTGGGGCTCCTCCCTCCTCCCTCCTCCCCAGGCTGCCCCAGACCACCCT TCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCCAGGCTGCCCCCGACCA CCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTTCTCCCCAGGCT GCCCCCGACCACCCTTCAGTTCTGCAGGTGGGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	382	0.0026	432	c.-26 others(451): Show c.-265-1531_-265-1530insCAGGCTGCCCCCGACCACCCTTCAGT TCTGCAGGTGGGGGCTCCTCCCTCCTCCCCAGGCTGCCCCCACCACCCTT CAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTCCTCCCCAGGCTGCCCC CGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCCAGGCTGTCCCTGA CCACCCTTCAGTTCTGCAGGTGGGGGCTCCTCCCTCCTCCCCAGGCTGCC CCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTCCTCC CCAGGCTGCCCCAGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTC CTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTC CCTCCTCCCTTCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGG TGGGGC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GTCACCAC others(425): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0055 a0002c0002t0003g0055	1	396	0.0025	432	c.513 others(447): Show c.513-927_513-926insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCAT TA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
DCDC2_chr6_24166755_24363059	24238179	A A	AGGGAGGA others(425): Show AGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAAT GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGG GAGGGTGAGGGGAGGGGAAGGGTGAGGGGAGGGGGAGGGGAGTGGAAGGG GGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGTG GAAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGG GGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGGAGGGG GAGGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0213 a0002c0002t0007g0213	1	216	0.0046	432	c.923 others(451): Show c.923-33078_923-33077insCTCCCCCTCCCCCTCCCCCCTCCCCC TCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCC TCCCCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCT CCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCACCCTTCCCCTCCCCT CACCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCC TCCCTCCATTCCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTT CCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DDR2_chr1_162627464_162792405	162727099	A A	AAAATATA others(425): Show AAAATATAAACATATATTTATATTTTGTAAATATAAACATATATTTATAT TTTGTAAATATAAACATATATTTATATTTTGTAAATATAAACATATATTT ATATTTTGTAAATATAAACATATATTTATATTTTGTAAATATAAACATAT ATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAATATAAAC ATATATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAATAT AAACATATATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAA ATATAAACATATATTTATATTTTGTAAATATAAACATATATTTATATTTT GTAAATATAAACATATATTTATATTTTGTAAATATAAACATATATTTATA TTTTGTAAATATAAACATATATTTATATTTTGT	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA19240.hp1 HG02738.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0018 a0001c0002t0001 a0001c0006t0018	a0001c0002t0001g0218 a0001c0006t0018g0201 a0001c0002t0001g0218 a0001c0006t0018g0201	2	302	0.0066	432	c.82+ others(447): Show c.82+8125_82+8126insCATATATTTATATTTTGTAAATATAAACAT ATATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAATATAA ACATATATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAAT ATAAACATATATTTATATTTTGTAAATATAAACATATATTTATATTTTGT AAATATAAACATATATTTATATTTTGTAAATATAAACATATATTTATATT TTGTAAATATAAACATATATTTATATTTTGTAAATATAAACATATATTTA TATTTTGTAAATATAAACATATATTTATATTTTGTAAATATAAACATATA TTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAATATAAACA TATATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAATATA AA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(425): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCC CCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCC ACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCGCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0178 a0002c0025t0001g0178	1	320	0.0031	432	c.39 others(443): Show c.3972_*3973insGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGCGGGTGCGGGTGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DNAH9_chr17_11593470_11974748	11712071	T T	TATATTTA others(425): Show TATATTTATATATAAATATATATATTTGTATATATATTTATATATAAATA TATATATTTGTATATATATATAAATATATATATTTGTATATATATTTATA TATAAATATATATATTTGTATATATATTTATATATAAATATATATATTTG TATATATATATAAATATATATATTTGTATATATATTTATATATATATATT TGTATATATATTTATATATAAATATATATATAAATATATATATTTATATA TAAATACATATATTTATATATTTATATATAAATATATGTATTTATATAAA TTTATATATATATATATTTATATATAAATATATATATATATAAATATATA TATTTATATATATTTATATATAAATATATATATATAAATATATATATTTA TATATATATATATTTATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0004 a0004	a0004c0072 a0004c0072	a0004c0072t0001 a0004c0072t0001	a0004c0072t0001g0093 a0004c0072t0001g0093	1	178	0.0056	432	c.555 others(451): Show c.5552+6890_5552+6891insTTATATATAAATATATATATTTGTAT ATATATTTATATATAAATATATATATTTGTATATATATATAAATATATAT ATTTGTATATATATTTATATATAAATATATATATTTGTATATATATTTAT ATATAAATATATATATTTGTATATATATATAAATATATATATTTGTATAT ATATTTATATATATATATTTGTATATATATTTATATATAAATATATATAT AAATATATATATTTATATATAAATACATATATTTATATATTTATATATAA ATATATGTATTTATATAAATTTATATATATATATATTTATATATAAATAT ATATATATATAAATATATATATTTATATATATTTATATATAAATATATAT ATATAAATATATATATTTATATATATATATATTTATATATATTTATATAT AAATAT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	26/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DOC2B_chr17_137789_186650	167837	C C	CATGGTCT others(425): Show CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TAGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTGATG GTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATAGT CTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTGATGGTCTGA CACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATAGTCTGACA CTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATAGTCTGACACTGT TCTTGAGGTAGTGAATACGTCTCACGAGATCTG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0045 a0001c0002t0026g0045	1	339	0.0030	432	c.454 others(449): Show c.454-3634_454-3633insCAGATCTCGTGAGACGTATTCACTACCT CAAGAACAGTGTCAGACTATGAGATCTCGTGAGACGTATTCACTACCTCA AGAACAGTGTCAGACCATGAGATCTCGTGAGACGTATTCACTACCTCAAG AACAGTGTCAGACTATGAGATCTCGTGAGACGTATTCACTACCTCAAGAA CAGTGTCAGACCATCAGATCTCGTGAGACGTATTCACTACCTCAAGAACA GTGTCAGACCATGAGATCTCGTGAGACGTATTCACTACCTCAAGAACAGT GTCAGACTATGAGATCTCGTGAGACGTATTCACTACCTCAAGAACAGTGT CAGACCATCAGATCTCGTGAGACGTATTCACTACCTCAAGAACAGTGTCA GACTATGAGATCTCGTGAGACGTATTCACTACCTCAAGAACAGTGTCAGA CCAT	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOCK8_chr9_209865_470255	400730	T T	TCCACCAC others(425): Show TCCACCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCAC CTCCACCACCACCACCACCTCCACCACCACCACCACCACCTCCACCACCA CCACCACCACCACCACCACCACCACCTCCACCACCACCACCTCCACCACC ACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCAC CACCACCACCACCTCCACCACCACCTCCACCACCTCCACCATCACCACCA CCACCTCCACCATCACCATCACCACCACCACCGCCACCACCACCATCACC ACCGCCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCAC CACCACCTCCACCATCACCACCTCCACCACCACCACCACCTCCACCACCA CCACCACCTCCACCATCACCACCACCACCTCCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0045 a0045	a0045c0045 a0045c0045	a0045c0045t0003 a0045c0045t0003	a0045c0045t0003g0004 a0045c0045t0003g0004	1	256	0.0039	432	c.323 others(451): Show c.3234+1483_3234+1484insCCTCCACCACCACCACCACCTCCACC ATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCAC CTCCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCA CCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACCATCACC ACCACCTCCACCACCACCACCACCTCCACCACCACCTCCACCACCTCCAC CATCACCACCACCACCTCCACCATCACCATCACCACCACCACCGCCACCA CCACCATCACCACCGCCTCCACCACCAGCACTTCCACCATCACCACCTCC TTCACCATCACCACCACCTCCACCATCACCACCTCCACCACCACCACCAC CTCCACCACCACCACCACCTCCACCATCACCACCACCACCTCCACCACCA CCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400981	C C	CATCACCA others(425): Show CATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCT CCTTCACCATCACCATCACCATCACCACCACCTCCACCATCACCACCACC ACCTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCAC CATCACCACCTCCTTCACCACCACCACTTCCACCATCACCACCTCCTTCA CCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCACCTCC ACCACCACCACTTCCACCATCACCACCTCCTTCACCATCACCATCACCAC CACCTCCACCACCACCACCACCTCCACCACCACCCTCACCACCTTCTCCA CCACCACCATCTTCACCATCACCACCATCGCCCTGCCCACCTCTAGCAAT ATTATCACCTTTCCTATCACCTCCAATATCACT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0057 a0057	a0057c0130 a0057c0130	a0057c0130t0001 a0057c0130t0001	a0057c0130t0001g0169 a0057c0130t0001g0169	1	256	0.0039	432	c.323 others(451): Show c.3234+1723_3234+1724insTCACCACCACCTCCACCATCACCACC ACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCATCACCAC CACCTCCACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCA TCACCATCACCACCACCTCCACCATCACCACCTCCTTCACCACCACCACT TCCACCATCACCACCTCCTTCACCACCACCTCCACCACCACCTCCACCAC CACCTCCACCACCACCACCTCCACCACCACCACTTCCACCATCACCACCT CCTTCACCATCACCATCACCACCACCTCCACCACCACCACCACCTCCACC ACCACCCTCACCACCTTCTCCACCACCACCATCTTCACCATCACCACCAT CGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATA TCACTA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EEF1A2_chr20_63483014_63504083	63486940	C C	CTTCCCCC others(425): Show CTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCCC CCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACC CTCCTCTGCATCCTCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCT GCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCT CAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAG CCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCC AACCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCC ACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCAC CCTCCTCTGCATCCTCAGGGAACCTGCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	374	0.0027	432	c.13 others(443): Show c.1357_*1358insAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGG TGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTG GAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGTTG GGCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGC TCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGA GGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCA GAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCTTGAGGATGCAGAGGAGG GTCAGGGTGGAGGGTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGG GGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTCGGGGGGAA	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1073		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492196	G G	GGATGGAT others(425): Show GGATGGATGGATGGGGAAATGGATGGATGGAAGGATGGATGGATAGGGAG GTGGGTGGATGGATGGATGGATGGATGTACAGAAGGATGGATGGGTGGGG AGGTGGGTGAGTGGATGAATGGATGGATGGATAGATAGAAGGATGGATGG GTGGGACAATAGATGGATGGATAGAGAGAAGGATGGATGGGTGGGGAGAT GGATGGATGGATGGATGGATGGATGGATAGAGAGAAGGATGGATGGTTGA GACAATGGATGGATGGATGGATGGAGAGATGGATGGATGGATGGATGGAC AGAAGGATGGATGGGTGGGGAGGTGGATGGATGGATTGAAGGATGGATGG GTGGGGACATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAC AGAAGGATGTATGGGTGGGGAGGTGGGTGGATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	374	0.0027	432	c.772 others(447): Show c.772+940_772+941insTATCCACCCACCTCCCCACCCATACATCCT TCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGTCCC CACCCATCCATCCTTCAATCCATCCATCCACCTCCCCACCCATCCATCCT TCTGTCCATCCATCCATCCATCCATCTCTCCATCCATCCATCCATCCATT GTCTCAACCATCCATCCTTCTCTCTATCCATCCATCCATCCATCCATCCA TCCATCTCCCCACCCATCCATCCTTCTCTCTATCCATCCATCTATTGTCC CACCCATCCATCCTTCTATCTATCCATCCATCCATTCATCCACTCACCCA CCTCCCCACCCATCCATCCTTCTGTACATCCATCCATCCATCCATCCACC CACCTCCCTATCCATCCATCCTTCCATCCATCCATTTCCCCATCCATCCA TC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492360	G G	GGATGGAT others(425): Show GGATGGATAGAGAGAAGGATGGATGGGTGGGGAGATGGATGGATGGATGG ATGGATGGATGGATAGAGAGAAGGATGGATGGTTGAGACAATGGATGGAT GGATGGATGGATGGAGAGATGGATGGATGGATGGATGGACAGAAGGATGG ATGGGTGGGGAGGTGGATGGATGGATTGAAGGATGGACGGGTGGGGAGAT GGATGGATGGATGGATGGATGGATGGATGGACAGAAGGATGTATGGGTGG GGAGGTGGGTGGATAGATGGATGGATGGATGGATGGGGAAATGGATGGAT GGAAGGATGGATGGATAGGGAGGTGGGTGGATGGATGGATGGATGGATGT ACAGAAGGATGGATGGGTGGGGAGGTGGGTGAGTGGATGAATGGATGGAT GGATAGATAGAAGGATGGATGGGTGGGACAACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(79): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00621.hp1 HG00673.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02683.hp1 HG03017.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18985.hp1 NA18994.hp1 NA19000.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19057.hp1 NA19065.hp1 NA19067.hp1 NA19077.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0011 a0001c0015 a0003c0013 a0011c0024	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0007 a0001c0006t0001 a0001c0011t0001 a0001c0015t0001 a0003c0013t0001 a0011c0024t0001	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0002t0001g0153 others(43): Show a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0002t0001g0153 a0001c0002t0001g0175 a0001c0002t0001g0181 a0001c0002t0001g0203 a0001c0002t0002g0204 a0001c0003t0001g0001 a0001c0003t0001g0003 a0001c0003t0001g0016 a0001c0003t0001g0051 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0057 a0001c0003t0001g0096 a0001c0003t0001g0174 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0185 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0007g0198 a0001c0006t0001g0033 a0001c0006t0001g0034 a0001c0006t0001g0068 a0001c0006t0001g0078 a0001c0006t0001g0080 a0001c0006t0001g0082 a0001c0006t0001g0087 a0001c0011t0001g0069 a0001c0011t0001g0079 a0001c0015t0001g0180 a0003c0013t0001g0114 a0011c0024t0001g0207	82	374	0.2193	432	c.772 others(447): Show c.772+776_772+777insTGTTGTCCCACCCATCCATCCTTCTATCTA TCCATCCATCCATTCATCCACTCACCCACCTCCCCACCCATCCATCCTTC TGTACATCCATCCATCCATCCATCCACCCACCTCCCTATCCATCCATCCT TCCATCCATCCATTTCCCCATCCATCCATCCATCCATCTATCCACCCACC TCCCCACCCATACATCCTTCTGTCCATCCATCCATCCATCCATCCATCCA TCCATCTCCCCACCCGTCCATCCTTCAATCCATCCATCCACCTCCCCACC CATCCATCCTTCTGTCCATCCATCCATCCATCCATCTCTCCATCCATCCA TCCATCCATCCATTGTCTCAACCATCCATCCTTCTCTCTATCCATCCATC CATCCATCCATCCATCCATCTCCCCACCCATCCATCCTTCTCTCTATCCA TC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EGFR_chr7_55014017_55216628	55167217	C C	CGGTGGTG others(425): Show CGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGA TGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGA TGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGATGA GGGTGGTGATGGTGATGAGGAGGTGGGAGTCACAACGTTGGTGGTGATGA TGGTGTTACTGGTGGTGACGAGGTGGGAGTCACAATGGTGGTGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGA GGAGGTGGGAGTCACAGTGGTGGCGGTGTTGATGGTGGTGATGGTGGTGA GGAGGTGGGAGTCACAATGGTGGTGGTGTTGAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0020 a0001c0021t0020	a0001c0021t0020g0139 a0001c0021t0020g0139	1	250	0.0040	432	c.188 others(451): Show c.1880+1825_1880+1826insTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAGTGGTGGTGGTGATGAGGGTGGTGATGGTGATGAGGAG GTGGGAGTCACAACGTTGGTGGTGATGATGGTGTTACTGGTGGTGACGAG GTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAATGGTGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTG GCGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTG GTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTG GTGGTG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGFR_chr7_55014017_55216628	55167217	C C	CGGTGGTG others(425): Show CGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGA TGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGATGA GGGTGGTGATGGTGATGAGGAGGTGGGAGTCACAACGTTGGTGGTGATGA TGGTGTTACTGGTGGTGACGAGGTGGGAGTCACAATGGTGGTGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGA GGAGGTGGGAGTCACAGTGGTGGCGGTGTTGAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03471.hp2 HG02976.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0008 a0001c0004 a0002c0008	a0001c0004t0004 a0002c0008t0047 a0001c0004t0004 a0002c0008t0047	a0001c0004t0004g0174 a0002c0008t0047g0117 a0001c0004t0004g0174 a0002c0008t0047g0117	2	250	0.0080	432	c.188 others(451): Show c.1880+1825_1880+1826insTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAGTGGTGGTGGTGATGAGGGTGGTGATGGTGATGAGGAG GTGGGAGTCACAACGTTGGTGGTGATGATGGTGTTACTGGTGGTGACGAG GTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAATGGTGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTG GCGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTG GTGGTG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar

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