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
CCKAR_chr4_26476396_26495484	26484866	A A	ACCCAATC others(280): Show ACCCAATCTCTATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG03579.hp1 HG01070.hp2 HG01071.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0042 a0001c0001t0006g0130 a0001c0001t0003g0042 a0001c0001t0006g0130	3	347	0.0086	287	c.626 others(302): Show c.626+770_626+771insCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATAGA GATTGGG	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding	3/4			chr4	TogoVar
CCNY_chr10_35331509_35577667	35549903	A A	ACATGACC others(280): Show ACATGACCCTACAGTGCTCATGACCCTGCGCTGCTCATGACACATGACCC TACAGTGCTCGTGACCCTGCGCTGCTCATGGCCCATGACCCTACAGTGCT CGTGACCCTGCGCTGCTCATGACACATGACCCTACAGTGCTCATGACCCT GCGCTGCTCATGACACATGACCCTACAGTGCTCGTGACCCTGCGCTGCTC ATGGCCCATGACCCTACACTGTTCGTGACCCTGCGCTGCTCATGGTCCGT GACCCTACACTGCTTGTGACCCTGCGCTGCTCATGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19240.hp1 HG01243.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0002g0053 a0001c0001t0002g0057	2	183	0.0109	287	c.580 others(304): Show c.580-3098_580-3097insATGACCCTGCGCTGCTCATGACACATGA CCCTACAGTGCTCGTGACCCTGCGCTGCTCATGGCCCATGACCCTACAGT GCTCGTGACCCTGCGCTGCTCATGACACATGACCCTACAGTGCTCATGAC CCTGCGCTGCTCATGACACATGACCCTACAGTGCTCGTGACCCTGCGCTG CTCATGGCCCATGACCCTACACTGTTCGTGACCCTGCGCTGCTCATGGTC CGTGACCCTACACTGCTTGTGACCCTGCGCTGCTCATGGCCCATGACCCT ACAGTGCTC	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	AGAATATA others(280): Show AGAATATATATATATAGAATATATATATAGAATATATATATAGAATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	273	0.0037	287	c.487 others(304): Show c.487+1101_487+1102insGAATATATATATATAGAATATATATATA GAATATATATATAGAATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	AGAATATA others(280): Show AGAATATATATATATAGAATATATATATAGAATATATATATATAGAATAT ATATATAGAATATATATATATAGAATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	273	0.0037	287	c.487 others(304): Show c.487+1101_487+1102insGAATATATATATATAGAATATATATATA GAATATATATATATAGAATATATATATAGAATATATATATATAGAATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPJ_chr13_24877279_24927861	24881964	A A	ATATAGAT others(280): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	415	0.0024	287	c.12 others(298): Show c.1212_*1213insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT CTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCT ATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		314		chr13	TogoVar
CFAP46_chr10_132803392_132947570	132887942	A A	ACCTCTCT others(280): Show ACCTCTCTCTCTCCTCTCCTCTCTCTCTCCTCTCCTCTCTCTCCGCTCCT CTCTCTCTCCTCTCCCCTCTTCTCTCTCTCCTCTCCCCTCTTCTCTCCTC TCCCTTCTTCTCTCTCCTCTCCTCTCCCCTCTTCTCTCCTCTCCCCTCTT CTCTCCTCTCCCTTCTTCTCTCCTCTCCTCTCCCCTTCTCTCCTCTCCCT TCTTCTCTCTCCTCTCCTCTCTCCTCTTCTCTCCTCTCCCTTCTTCTCTC TCCTCTCCTCTCTCCTCTTTCACCTCTCTCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02280.hp2 HG01257.hp2 HG02280.hp2	a0012 a0048 a0012 a0048	a0012c0025 a0048c0069 a0012c0025 a0048c0069	a0012c0025t0002 a0048c0069t0002 a0012c0025t0002 a0048c0069t0002	a0012c0025t0002g0014 a0048c0069t0002g0015 a0012c0025t0002g0014 a0048c0069t0002g0015	2	197	0.0102	287	c.330 others(306): Show c.3305-1984_3305-1983insAGAGGAGAGAGAGAGGTGAAAGAGGA GAGAGGAGAGGAGAGAGAAGAAGGGAGAGGAGAGAAGAGGAGAGAGGAGA GGAGAGAGAAGAAGGGAGAGGAGAGAAGGGGAGAGGAGAGGAGAGAAGAA GGGAGAGGAGAGAAGAGGGGAGAGGAGAGAAGAGGGGAGAGGAGAGGAGA GAGAAGAAGGGAGAGGAGAGAAGAGGGGAGAGGAGAGAGAGAAGAGGGGA GAGGAGAGAGAGAGGAGCGGAGAGAGAGGAGAGGAGAGAGAGAGGAGAGG AGAGAGAGAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP61_chr20_20047532_20365698	20355435	G G	GTACTCAC others(280): Show GTACTCACACTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTAGTGACACTGTGAGCAGAGATGGTCACACTGTGAGGG GAGGGGGTCACACTGTGAGGGGGAAGGTGGTCACACTGTGAGAGGGGAGA AGGTCACACTAAGGGGAGGTAGTCACACTGTGAGGGGAGGTGATCACACT AAGGGGAGGTGGTCACACTGTGAGAGGAGGTGGTCACACTGTGAGGGGAG GTCACACTGAGGGGAGGTAGTGACACTATGAGCAGAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0229 a0002c0002t0001g0229	1	138	0.0072	287	c.351 others(306): Show c.3514-4774_3514-4773insACTCACACTGTGAGGGGAGGTGGTCA CACTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTAGTGACACTGTGAGC AGAGATGGTCACACTGTGAGGGGAGGGGGTCACACTGTGAGGGGGAAGGT GGTCACACTGTGAGAGGGGAGAAGGTCACACTAAGGGGAGGTAGTCACAC TGTGAGGGGAGGTGATCACACTAAGGGGAGGTGGTCACACTGTGAGAGGA GGTGGTCACACTGTGAGGGGAGGTCACACTGAGGGGAGGTAGTGACACTA TGAGCAGAGAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CIP2A_chr3_108544864_108594438	108575721	T T	TGTATATA others(280): Show TGTATATATACGTGTATATATACGTGTATATATACTGAGTATATATACGT GTATATATACTGAGTATATATACGTGTATATATACTGAGTATATATACGT GTATATATACTGAGTATATATACGTGTATATATACTGAGTATATATACGT GTATATATACTGAGTATATATACGTGTATATATACTGAGTATATATACGT GTATATATACTGAGTATATATACGTGTATATATACTGAGTATATATACGT GTATATATACTGAGTATATATACGTGTATATATACTGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0339 a0003c0005t0002g0339	1	251	0.0040	287	c.894 others(302): Show c.894+549_894+550insTCAGTATATATACACGTATATATACTCAGT ATATATACACGTATATATACTCAGTATATATACACGTATATATACTCAGT ATATATACACGTATATATACTCAGTATATATACACGTATATATACTCAGT ATATATACACGTATATATACTCAGTATATATACACGTATATATACTCAGT ATATATACACGTATATATACTCAGTATATATACACGTATATATACTCAGT ATATATACACGTATATATACTCAGTATATATACACGTATATATACACGTA TATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CMIP_chr16_81439808_81716762	81704284	C C	CCTCTTCC others(280): Show CCTCTTCCCTGCCCCCTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCC TGCCCCCTCACCCTCCTCCCTGCCCCCCTTACTCTCCTCCCTGCCCCTTC ACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTC CCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCCTGTCCCC CTTACTCTCCTCCCTGCCCCTTCACCCTCCTCCCTGTCCCCCTTACTCTC CTCCCTGCCCCCTCACCCTCCTCCCTGTCCCCCTTACT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18982.hp1 NA18954.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0050 a0001c0001t0007g0238 a0001c0001t0005g0050 a0001c0001t0007g0238	2	238	0.0084	287	c.209 others(304): Show c.2091+202_2091+203insTTCCCTGCCCCCTCACCCTCCTCCCTGT CCCCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCCTTAC TCTCCTCCCTGCCCCTTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCC TGCCCCCTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTC ACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCTTCACCCTCCTC CCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCCTGTCCCC CTTACTCTC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133778	T T	TCGCCACC others(280): Show TCGCCACCTCCCCGCTCTCTCCGCCCCTCTCCACCTCCCCCTCGCTCTCC CTCCCGCTCCACCTCCCCGCTCTCCCGCCCTCGCTCCACCGCCCCGCTCG CCGCTCCCTCCCCTCTCCACCTCCCCTCTCTCCTCCTCCCTCCCTCCTTC CTCCGCCTCCCCTCGCTCCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTC CCTCCCTCTCCACCTCCCCTCTCGCGCTCCCTCCCTCTCCACCTCCCCGC TCTCTCTTCCTCCCGCTCCACCTCCCCTCTCTCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	202	0.0050	287	c.-42 others(298): Show c.-4266_-4265insCGCCACCTCCCCGCTCTCTCCGCCCCTCTCCACC TCCCCCTCGCTCTCCCTCCCGCTCCACCTCCCCGCTCTCCCGCCCTCGCT CCACCGCCCCGCTCGCCGCTCCCTCCCCTCTCCACCTCCCCTCTCTCCTC CTCCCTCCCTCCTTCCTCCGCCTCCCCTCGCTCCCCTCCCTCTCTCCACC TCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCGCGCTCCCTCCC TCTCCACCTCCCCGCTCTCTCTTCCTCCCGCTCCACCTCCCCTCTCTCCC TCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3983		chr19	TogoVar
COL18A1_chr21_45400165_45518720	45440469	C C	CAAGCAGT others(280): Show CAAGCAGTCAGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGGAAGCAGTC GGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGGAAGCAGTCGGGGCCTGC TGGGGTTTGAGCCACGTTCCCCGGAAGCAGTCGGGGCCTGCTGGGGTTTG AGCCACGTTCCCCGGAAGCAGTCGGGGCCTGCTGGGGTTTGAGCCACGTT CCCCGGAAGCAGTCGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGGAAG CAGCTGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp2 HG03130.hp1 others(1): Show HG02109.hp2 HG02630.hp2 HG03130.hp1 HG03579.hp1	a0001 a0007 a0001 a0007	a0001c0066 a0007c0018 a0001c0066 a0007c0018	a0001c0066t0005 a0007c0018t0005 a0001c0066t0005 a0007c0018t0005	a0001c0066t0005g0036 a0007c0018t0005g0045 a0007c0018t0005g0110 others(1): Show a0001c0066t0005g0036 a0007c0018t0005g0045 a0007c0018t0005g0110 a0007c0018t0005g0112	4	153	0.0261	287	c.107 others(306): Show c.107-27765_107-27764insAGGGCCTGCTGGGGTTTGAGCCACGT TCCCCGGAAGCAGTCGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGGAA GCAGTCGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGGAAGCAGTCGGG GCCTGCTGGGGTTTGAGCCACGTTCCCCGGAAGCAGTCGGGGCCTGCTGG GGTTTGAGCCACGTTCCCCGGAAGCAGTCGGGGCCTGCTGGGGTTTGAGC CACGTTCCCCGGAAGCAGCTGGGGCCTGCTGGGGTTTGAGCCACGTTCCC CGGAAGCAGTC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45500881	T T	TGTTGGGT others(280): Show TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTT TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0215 a0001c0006t0003g0215	1	272	0.0037	287	c.268 others(306): Show c.2684-3128_2684-3127insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG TGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A1_chr13_110143963_110312157	110255806	A A	AGGGGAAA others(280): Show AGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAAGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAG GCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA GGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19081.hp2 NA18982.hp2 NA19081.hp2	a0003 a0004 a0003 a0004	a0003c0107 a0004c0060 a0003c0107 a0004c0060	a0003c0107t0001 a0004c0060t0001 a0003c0107t0001 a0004c0060t0001	a0003c0107t0001g0242 a0004c0060t0001g0018 a0003c0107t0001g0242 a0004c0060t0001g0018	2	299	0.0067	287	c.85- others(304): Show c.85-13073_85-13072insCCCTTCCTGCCTTTCCCCTCCCTTCCTG CCTTCCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTTCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CPNE4_chr3_131528569_132040014	131978249	A A	ATTTTATA others(280): Show ATTTTATATATATTTATATAAATATATATATTTATATATATTTATATAAA TATATATATTTATATATATTTATATATATTTATATATATTTATATATATA TTTATATATATTTATATTTATATATATATTTTTATATATATTTATATATA TTTATATTTATATATATATTTTTATATATTTATATATATATTTTTATATA TTTATATATATATTTATATATTTATATATTTTTATATATTTATATATATA TTTTTATATATATATTTATATATATTTATATATATATT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0063 a0001c0002t0003g0063	1	90	0.0111	287	c.-2+ others(304): Show c.-2+56317_-2+56318insAATATATATATAAATATATATAAATATA TATATAAAAATATATATATAAATATATAAAAATATATAAATATATAAATA TATATATAAATATATAAAAATATATATATAAATATATAAAAATATATATA TAAATATAAATATATATAAATATATATAAAAATATATATATAAATATAAA TATATATAAATATATATATAAATATATATAAATATATATAAATATATATA AATATATATATTTATATAAATATATATAAATATATATATTTATATAAATA TATATAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPSF1_chr8_144388231_144414335	144398288	C C	CCTCCCCA others(280): Show CCTCCCCACCACCGTCCCCACCCACCTACCTCCTTCCAGCAGGCGGATGC CCAGGGCCCAACCACCCCCCCACCTACCTCCTTCCAGCAGGCGGATGCCC AGGGCCCAACCACCTCCCCCCCACCGTCCCCACCCACCTACCTCCTTCCA GCAGGCGGATGCCCAGGGCCCAACCACCCCCCCACCTACCTCCTTCCAGC AGGCGGATGCCCAGGGCCCAACCACCTCCCCCCCACCGTCCCCACCCACC TACCTCCTTCCAGCAGGCGGATGCCCAGGGCCCAACCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG01070.hp2 others(10): Show HG00323.hp1 HG00741.hp1 HG01070.hp2 HG01256.hp1 HG01258.hp2 HG02109.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02818.hp2 HG03098.hp1 HG03130.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0021 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0059 a0001c0001t0001g0140 a0001c0014t0001g0139	13	185	0.0703	287	c.189 others(302): Show c.1894+13_1894+14insTGGTTGGGCCCTGGGCATCCGCCTGCTGGA AGGAGGTAGGTGGGTGGGGACGGTGGGGGGGAGGTGGTTGGGCCCTGGGC ATCCGCCTGCTGGAAGGAGGTAGGTGGGGGGGTGGTTGGGCCCTGGGCAT CCGCCTGCTGGAAGGAGGTAGGTGGGTGGGGACGGTGGGGGGGAGGTGGT TGGGCCCTGGGCATCCGCCTGCTGGAAGGAGGTAGGTGGGGGGGTGGTTG GGCCCTGGGCATCCGCCTGCTGGAAGGAGGTAGGTGGGTGGGGACGGTGG TGGGGAG	CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	19/37			chr8	TogoVar
CRTC3_chr15_90524923_90650345	90647220	A A	ACAATCCT others(280): Show ACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCT CCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACA CCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCT CTTATTCCACACCCCTCCTCCTCCAACCCCTCCTCCAAAGCCCTCCTTCT CCTCCACACCCCTCCAAATTCCACAGCCCTCCTCCACCTCTACACCCACT GCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0157	1	198	0.0051	287	c.50 others(298): Show c.5080_*5081insCAATCCTCCTCCACACCCCTCCTCCTCCACAATC CTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCA CAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTC CTCCACAATCCTCCTCTTATTCCACACCCCTCCTCCTCCAACCCCTCCTC CAAAGCCCTCCTTCTCCTCCACACCCCTCCAAATTCCACAGCCCTCCTCC ACCTCTACACCCACTGCTCCTCCACAATCCTCCTCCACACCCCTCCTCCT CCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1876		chr15	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(280): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGG GGAGGGGGAGGGGAGGGAGAGGGGAGGGAGAGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGGAGGGGGGGGGGGGGAGGGGGAGGGGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0015 a0001c0068t0015	a0001c0068t0015g0049 a0001c0068t0015g0049	1	16	0.0625	287	c.416 others(308): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCCCTCCCCCTCCCCCCCCCCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCCTCCCCTCTCCC TCCCCTCCCCCTCCCCTCCCTCTCCCCTCCCCCTCCTCTCCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTCACATCCCCCTCAC ATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(280): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02717.hp2 others(3): Show HG02280.hp2 HG02451.hp1 HG02717.hp2 HG02922.hp1 HG03225.hp1 HG03540.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0001c0001t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0001g0019 a0001c0001t0001g0134 a0001c0001t0002g0272 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0134 a0001c0001t0002g0272 a0003c0003t0001g0148 a0003c0003t0001g0150 a0003c0003t0001g0151	6	278	0.0216	287	c.-27 others(308): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG TGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AATTTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(280): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	273	0.0037	287	c.-27 others(308): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGG TGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AATTTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CTNND2_chr5_10966836_11909446	11391150	T T	TAAGAAAG others(280): Show TAAGAAAGGCAGGATATTCTCACTCATAGGTGGGAATTGAACAATGAGAT CACATGGACACAGGAAGGGGAATATCACACTGTGGGGACTGTGGTGGGGT CGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGA CACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAAC TAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAA AAAAAAAAAAAAATTTAACAGAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03225.hp1 HG03453.hp2 others(1): Show HG02647.hp1 HG03225.hp1 HG03453.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0002c0008t0001 a0001c0001t0001 a0002c0008t0001	a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0021 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0021 a0002c0008t0001g0014	4	21	0.1905	287	c.612 others(304): Show c.612+5880_612+5881insTTTTTTTTTTTTTTTTTCTGTTAAATTT TTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATT GTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACC CACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCC CCCTCCCCCGACCCCACCACAGTCCCCACAGTGTGATATTCCCCTTCCTG TGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATCCT GCCTTTCTT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	6/21			chr5	TogoVar
CUL4A_chr13_113204613_113272108	113232218	G G	GTCACCAC others(280): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	312	0.0032	287	c.513 others(302): Show c.513-959_513-958insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232218	G G	GTCACCAC others(280): Show GTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGCCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGCCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0110 a0001c0001t0012g0110	1	312	0.0032	287	c.513 others(302): Show c.513-959_513-958insTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGCCACCACTACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACC ACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232218	G G	GTCACCAC others(280): Show GTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	312	0.0032	287	c.513 others(302): Show c.513-959_513-958insTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACC ACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GTCACCAC others(280): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGCCACCACTACCTGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGCCACCACTACCTGCCCACCACCATT ACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0322 a0001c0001t0022g0322	1	314	0.0032	287	c.513 others(302): Show c.513-927_513-926insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGCCACCACTACCTGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCCACCA CTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACC ACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GTCACCAC others(280): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCA CCACCATTACTGTCACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03017.hp2 HG02602.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0113 a0002c0002t0001g0099 a0002c0002t0001g0113	2	315	0.0063	287	c.513 others(302): Show c.513-927_513-926insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACC ACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CYBRD1_chr2_171517474_171563129	171558477	T T	TTAATATT others(280): Show TTAATATTATGTATTTATATATAATATGTAATATTATATATTTATATATA ATATGTAATATTATATATATATAATATGTAATATTATATATATATAATAT GTAATATTATATATATATAATATGTAATATTATATATATATAATATGTAA TATTATATATATATAATATGTAATATTATATATATATAATATGTAATATT ATATATATATAATATGTAATATTATATATATATAATATGTAATATTATAT ATATATAATATGTAATATTATATATATATAATATGTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0041 a0001c0001t0007g0041	1	349	0.0029	287	c.36 others(298): Show c.3650_*3651insTAATATTATGTATTTATATATAATATGTAATATT ATATATTTATATATAATATGTAATATTATATATATATAATATGTAATATT ATATATATATAATATGTAATATTATATATATATAATATGTAATATTATAT ATATATAATATGTAATATTATATATATATAATATGTAATATTATATATAT ATAATATGTAATATTATATATATATAATATGTAATATTATATATATATAA TATGTAATATTATATATATATAATATGTAATATTATATATATATAATATG TAA	CYBRD1	ENSG00000071967.12	transcript	ENST00000321348.9	protein_coding		349		chr2	TogoVar
DIDO1_chr20_62872743_62931505	62875236	C C	CCACCCCC others(280): Show CCACCCCCACCCCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCCC ACCCCCACCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCAC CCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCC CCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0021 a0003c0003t0001g0021	1	313	0.0032	287	c.39 others(298): Show c.3996_*3997insCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGG GTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGT GGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGGGGGTGG GGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTGGGG GTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2506		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCACCCCC others(280): Show CCACCCCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCC CCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCACC CCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0251 a0003c0003t0001g0251	1	264	0.0038	287	c.39 others(298): Show c.3990_*3991insAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGG GTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGT GGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGG GTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2500		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCACCCCC others(280): Show CCACCCCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCC CCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCACC CCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0253 a0003c0003t0001g0253	1	264	0.0038	287	c.39 others(298): Show c.3990_*3991insAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGG GTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGT GGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGG GTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2500		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCACCCCC others(280): Show CCACCCCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCC CCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCACC CCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG01952.hp2 others(6): Show HG00323.hp1 HG00544.hp2 HG01952.hp2 HG02135.hp1 NA18952.hp1 NA19000.hp2 NA19056.hp2 NA19066.hp2 NA19080.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0022 a0003c0003t0001g0025 a0003c0003t0001g0027 others(6): Show a0003c0003t0001g0022 a0003c0003t0001g0025 a0003c0003t0001g0027 a0003c0003t0001g0061 a0003c0003t0001g0220 a0003c0003t0001g0224 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0236	9	272	0.0331	287	c.39 others(298): Show c.3990_*3991insAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGG GTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGT GGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGG GTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2500		chr20	TogoVar
DISC1_chr1_231621790_232046272	231796348	C C	CGAAATGT others(280): Show CGAAATGTAAAAAGGAGAGGTCAGGAGATCGAGACCATCCTGGCTAACAA GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAG TCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0005 a0004c0006t0005	a0004c0006t0005g0010 a0004c0006t0005g0010	1	37	0.0270	287	c.168 others(306): Show c.1689+1067_1689+1068insGAGGTCAGGAGATCGAGACCATCCTG GCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA TGTAAAAAGGA	DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH12_chr3_57288700_57549344	57390436	T T	TATATATA others(280): Show TATATATATACACATACATATACATATATACACATACATATACATATATA CACATACATATACATATATACACATACATATATATATACATATATATATA CATATATATATACGTATATATATATACGTGTATATATATATACATATATA TATATACGTGTGTATATATATACACATATATATATACACGTATATATATT ACACATATATATATATACACATATATATATATACACACATATATATATAC ACATATATATATATACACATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0262 a0002c0002t0001g0262	1	264	0.0038	287	c.730 others(306): Show c.7305+1435_7305+1436insGTGTGTATATATATATATATGTGTAT ATATATATATGTGTATATATATATGTGTGTATATATATATATGTGTATAT ATATATATGTGTAATATATATACGTGTATATATATATGTGTATATATATA CACACGTATATATATATATGTATATATATATACACGTATATATATATACG TATATATATATGTATATATATATGTATATATATATGTATGTGTATATATG TATATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATG TGTATATATAT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DPH1_chr17_2025153_2048898	2035388	A A	AAGGGCCC others(280): Show AAGGGCCCTGCCTGCGGTGGGGAGGTAGCGGGGGTCCAGGCGAGGGGGCC CTGCCTGTGGTGGGGAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAG TGGGGGTCCGGACGAGAGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGT CCGGACGAGAGGGCCCTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGACG AGAGGGCCCTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGGC CCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGACGAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0144 a0001c0001t0002g0100 a0001c0001t0002g0144	2	372	0.0054	287	c.279 others(302): Show c.279-555_279-554insCGGGGGTCCAGGCGAGGGGGCCCTGCCTGT GGTGGGGAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTC CGGACGAGAGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGACGA GAGGGCCCTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGGCC CTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGGCCCTGCCTG TGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGGCCCTGCCTGCGGTGGG GAGGTAG	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DPH1_chr17_2025153_2048898	2035402	C C	CGGTGGGG others(280): Show CGGTGGGGAGGTAGCGGGGGTCCAGGCGAGGGGGCCCTGCCTGTGGTGGG GAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGACG AGAGGGCCCTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGGC CCTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGGCCCTGCCT GCGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGG GGAGGTAGTGGGGGTCCGGACGAGAGGGCCCTGCCTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	196	0.0051	287	c.279 others(302): Show c.279-555_279-554insCGGGGGTCCAGGCGAGGGGGCCCTGCCTGT GGTGGGGAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTC CGGACGAGAGGGCCCTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGACGA GAGGGCCCTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGGCC CTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTG TGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGGCCCTGCCTGTGGTGGG GAGGTAG	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DPP6_chr7_154047398_154899285	154711906	T T	TAAGAAAT others(280): Show TAAGAAATATTAAGGGTGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0024 a0001c0003t0007g0024	1	38	0.0263	287	c.763 others(306): Show c.763-15844_763-15843insGCCGAGGCGGGTGGATCATGAGGTCA GGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA TATTAAGGGTG	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB13_chr17_47318955_47446312	47325026	C C	CCCCCCCC others(280): Show CCCCCCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTT TAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0213 a0005c0005t0007g0213	1	149	0.0067	287	c.-24 others(304): Show c.-248+507_-248+508insCCCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EGFL7_chr9_136657916_136677678	136675317	C C	CAGGGGGC others(280): Show CAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCC AGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAG GCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGAC TGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAG GGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGG GGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	265	0.0038	287	c.30 others(298): Show c.3031_*3032insAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCA GGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAG GGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGC AGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCT GGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGG CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGA GGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2640		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675317	C C	CAGGGGGC others(280): Show CAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCC AGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAG GCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGAC TGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAG GGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGG GGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03453.hp1 HG03130.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0090 a0002c0002t0004g0089 a0001c0001t0001g0090 a0002c0002t0004g0089	2	266	0.0075	287	c.30 others(298): Show c.3031_*3032insAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCA GGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAG GGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGC AGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCT GGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGG CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2640		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675347	C C	CAGCAGGG others(280): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 NA18522.hp1 HG02523.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0108 a0001c0001t0001g0010 a0001c0001t0001g0108	2	346	0.0058	287	c.30 others(298): Show c.3061_*3062insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAG CAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGG AGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCA GCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGG CTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACT GGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2670		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675388	G G	GAGCAGGG others(280): Show GAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	251	0.0040	287	c.31 others(298): Show c.3102_*3103insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAG CAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGG AGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCA GCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGG CTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACT GGC	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2711		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675388	G G	GAGCAGGG others(280): Show GAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	251	0.0040	287	c.31 others(298): Show c.3102_*3103insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAG CAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGG AGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCA GCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGG CTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACT GGC	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2711		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675429	C C	CAGCAGGG others(280): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	177	0.0056	287	c.31 others(298): Show c.3143_*3144insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAG CAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGG AGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCA GCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGG CTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACT GGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2752		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675429	C C	CAGCAGGG others(280): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	177	0.0056	287	c.31 others(298): Show c.3143_*3144insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAG CAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGG AGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCA GCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGG CTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACT GGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2752		chr9	TogoVar
EHD2_chr19_47708422_47748134	47718626	G G	GGGGTCTG others(280): Show GGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGA GGAGGGGCTGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCC CGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGT CTGAGGGAGGAGGGACTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGA GCTGGGGCCTGGACTCCTGGGTCTGAGGGAGAGGGGCTGGGGGCCTGGAC TCCTGGGTCTGAGGGAGAGGGGCTGGGCCTGGACTCCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0070 a0001c0002t0003g0070	1	396	0.0025	287	c.502 others(300): Show c.502+45_502+46insGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCCGGACTCC TGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGA GGAGGGACTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGAGCTGGGGC CTGGACTCCTGGGTCTGAGGGAGAGGGGCTGGGGGCCTGGACTCCTGGGT CTGAGGGAGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGGGG	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(280): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC TGGGCAGAGGGGCTCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGG ATGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGC TGACCTCCCCACCTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02300.hp2 HG01099.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0174 a0001c0002t0011g0179 a0001c0002t0011g0174 a0001c0002t0011g0179	2	28	0.0714	287	c.145 others(304): Show c.145+3496_145+3497insCCACCTCCCTCCCGGACAGGGCGGCTGG CTGGGCAGAGGGGCTCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGG GATGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGG CTGACCTCCCCACCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4G3_chr1_20801479_21181897	21180071	T T	TATATATT others(280): Show TATATATTATATATAATATATATTACATAATATATTACATATATTATGTA ATATATGTTATATATTACATATAATATATTATATGTAATATATAATATAT TATATATTATATATTATACATAATATATAATATATAATATATAATATATA TATTATGTATAATATATATAATATATTATACATAATATATAATATATATT ACGTAATATATTACATATATTATATATAATATATATTACGTAATATATTA CATATATTATATATAATATATATTACGTAATATATTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	10	0.1000	287	c.-38 others(298): Show c.-3806_-3805insGTAATATATTACGTAATATATATTATATATAATA TATGTAATATATTACGTAATATATATTATATATAATATATGTAATATATT ACGTAATATATATTATATATTATGTATAATATATTATATATATTATACAT AATATATATATTATATATTATATATTATATATTATGTATAATATATAATA TATAATATATTATATATTACATATAATATATTATATGTAATATATAACAT ATATTACATAATATATGTAATATATTATGTAATATATATTATATATAATA TAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3175		chr1	TogoVar
ENTPD2_chr9_137043107_137059061	137050236	G G	GTCCCTAC others(280): Show GTCCCTACCCACGACAAAGTTCCCAGCCACCCCGCCTGCCCTTACCCACG ACAAAGTTCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTT ACCCTCGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TTCCCAGCCACCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCGCC TGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0053 a0003c0007t0001g0053	1	291	0.0034	287	c.102 others(302): Show c.1029+47_1029+48insTAGGCGGGTGGCTGGGAACTTTGTCGTGGG TAAGGGCAGGCGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGTG GCTGGGAAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTG TCGAGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGC AGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGG AACTTTGTCGTGGGTAAGGGCAGGCGGGGTGGCTGGGAACTTTGTCGTGG GTAGGGA	ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8			chr9	TogoVar
EXD3_chr9_137301896_137428162	137355700	A A	AGGAGGAT others(280): Show AGGAGGATGGAGAAAGGAGGAAGGAGGAAGGAGGAAGAGGAAGGAGGAAG GAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAG AAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAG AAAGGGCAGGCAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAG GAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGG AGAAGAGGAAGGAGAAGGAGGAAGGAGGAAGGAGAAAG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	72	0.0139	287	c.757 others(302): Show c.757+567_757+568insCTTTCTCCTTCCTCCTTCCTCCTTCTCCTT CCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCT CCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTGCC TGCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTC CTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCTTCTCCTTCCT CCTTCCTCCTTCCTCCTTCCTCTTCCTCCTTCCTCCTTCCTCCTTTCTCC ATCCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
F13B_chr1_197033741_197072260	197042728	G G	GAAGAATC others(280): Show GAAGAATCTCTTGACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03516.hp1 HG03688.hp1 others(4): Show HG02647.hp1 HG03516.hp1 HG03688.hp1 NA18947.hp1 NA19000.hp2 NA19072.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0145 a0001c0001t0001g0146 others(3): Show a0001c0001t0001g0038 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0001g0167	7	148	0.0473	287	c.173 others(306): Show c.1739-1994_1739-1993insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGTC AAGAGATTCTT	F13B	ENSG00000143278.5	transcript	ENST00000367412.2	protein_coding	10/11			chr1	TogoVar
FGF1_chr5_142587178_142691090	142656218	T T	TAGAAAAT others(280): Show TAGAAAATGGATGGTTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03579.hp1 NA18939.hp1 others(6): Show HG02886.hp2 HG03579.hp1 NA18939.hp1 NA18947.hp2 NA18965.hp2 NA18980.hp2 NA19043.hp2 NA19060.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0187 a0001c0001t0001g0325 a0001c0001t0002g0185 others(6): Show a0001c0001t0001g0187 a0001c0001t0001g0325 a0001c0001t0002g0185 a0001c0001t0002g0188 a0001c0001t0003g0094 a0001c0001t0004g0186 a0001c0001t0006g0063 a0001c0001t0006g0323 a0001c0001t0009g0189	9	338	0.0266	287	c.-35 others(306): Show c.-35+29738_-35+29739insTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAACC ATCCATTTTCT	FGF1	ENSG00000113578.18	transcript	ENST00000337706.7	protein_coding	1/3			chr5	TogoVar

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