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
ATF1_chr12_50759101_50826162	50823525	A A	ATATTATA others(388): Show ATATTATATATATAATCTATATTATATATAATATAGATTATATATATAAT CTATATTATATATATAATCTATATTATATATAATATAGATTATATATATA ATCTATATTATATAATCTATATTATATATAATATAGATTATATATATAAT CTATATTATATAATCTATATTATATATAATATAGATTATATATATAATCT ATATTATATAATCTATATTATATATAATATAGATTATATATATAATCTAT ATTATATAATCTATATTATATATAATATAGATTATATATATAATCTATAT TATATAATCTATATTATATATAATATAGATTATATATATAATCTATATTA TATAATCTATATTATATATAATATAGATTATATATATAATCTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02622.hp2 HG02896.hp2 others(1): Show HG02109.hp1 HG02622.hp2 HG02896.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0002t0014 a0001c0006t0001 a0001c0002t0001 a0001c0002t0014 a0001c0006t0001	a0001c0002t0001g0317 a0001c0002t0001g0320 a0001c0002t0014g0313 others(1): Show a0001c0002t0001g0317 a0001c0002t0001g0320 a0001c0002t0014g0313 a0001c0006t0001g0312	4	363	0.0110	395	c.37 others(406): Show c.3746_*3747insTATTATATATATAATCTATATTATATATAATATA GATTATATATATAATCTATATTATATATATAATCTATATTATATATAATA TAGATTATATATATAATCTATATTATATAATCTATATTATATATAATATA GATTATATATATAATCTATATTATATAATCTATATTATATATAATATAGA TTATATATATAATCTATATTATATAATCTATATTATATATAATATAGATT ATATATATAATCTATATTATATAATCTATATTATATATAATATAGATTAT ATATATAATCTATATTATATAATCTATATTATATATAATATAGATTATAT ATATAATCTATATTATATAATCTATATTATATATAATATAGATTATATAT ATAATCTATAT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2364		chr12	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(388): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCCACCCCCCC ACCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCC CCACCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCT CCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACC TCCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCC CACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCACCCCC TACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0112 a0001c0002t0013g0112	1	5	0.2000	395	c.39+ others(412): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCCA CCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCA CCTCCCCCCACCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC CCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACC CCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCCCAC CTCCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCC CACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCA CCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
C7orf50_chr7_992006_1143247	1116289	G G	GGATGATG others(388): Show GGATGATGACATCACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCC CACGCAGGATGATGACATCACTGCAGCTCTACGGACCGGCTTCCATCACC GACGCCCACGCAGGATGATGACATCACTGCAGCTCTACGGACCGGCTTCC ATCACCGACGCCCACGCAGGATGATGACATCACTGCAGCTCTACGGACCG GCTTCCATCACCGACGCCCACGCAGGATGATGACATCACTGCAGCTCTAC GGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCACTGCAG CTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCA CTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGAT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0198 a0001c0001t0004g0198	1	290	0.0034	395	c.129 others(414): Show c.129+10967_129+10968insATCCTGCGTGGGCGTCGGTGATGGAA GCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTG ATGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCG TCGGTGATGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCG TGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCATCAT CCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGCAGTGATGT CATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGCAG TGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAG CTGCAGTGATGTCATCATC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(388): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT CCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCC TTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCCTCCCCTCCCTCCTCCCCTTCCT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0018 a0004c0006t0018	a0004c0006t0018g0178 a0004c0006t0018g0178	1	22	0.0455	395	c.482 others(412): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTCCTTCCTTCCCTCCCTCCCTCCC TTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCT CCCTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCT CTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCCTCC CTCCTCCCCTTCCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CAPN15_chr16_522712_559636	544701	A A	ACGTCGCC others(388): Show ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCC CACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGT CTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCCACGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0057 a0001c0057	a0001c0057t0002 a0001c0057t0002	a0001c0057t0002g0228 a0001c0057t0002g0228	1	374	0.0027	395	c.-22 others(412): Show c.-22-2069_-22-2068insCCTCCCCCACGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTC CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGT CGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCAC GTCGTCGCCTCCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCCACGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	550768	C C	CCGGTGAG others(388): Show CCGGTGAGGGTCCCCGGTCGGTGAGGGCGCCCCGTCAGTGAGGGTCCCGG TCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGT CGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGCCCCCTGTC GGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCG GTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTC GGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGG TGAGGGCCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGG TGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTGCCCCGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18940.hp1 NA18970.hp2 others(3): Show HG00597.hp2 NA18940.hp1 NA18970.hp2 NA18983.hp2 NA18994.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0014 a0001c0002 a0001c0004 a0002c0014	a0001c0002t0002 a0001c0004t0002 a0002c0014t0002 a0001c0002t0002 a0001c0004t0002 a0002c0014t0002	a0001c0002t0002g0058 a0001c0002t0002g0068 a0001c0002t0002g0105 others(3): Show a0001c0002t0002g0058 a0001c0002t0002g0068 a0001c0002t0002g0105 a0001c0002t0002g0169 a0001c0004t0002g0106 a0002c0014t0002g0098	6	62	0.0968	395	c.206 others(412): Show c.2067-521_2067-520insCGGTCGGTGAGGGCGCCCCGTCAGTGAG GGTCCCGGTCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGG GCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGC CCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGC CCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGT CCCCTGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGCC CCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCC CCTGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTGCC CCGTCGGTGAGGGTCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASP8_chr2_201255536_201292709	201284699	A A	AGAGGGAG others(388): Show AGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAG GGAGACGGGGAGAGGGGAGGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAG GGAGGCGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGAGACGGGGG AGAGGAGGAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGAGGCGAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0005 a0006c0007t0005	a0006c0007t0005g0066 a0006c0007t0005g0066	1	384	0.0026	395	c.803 others(410): Show c.803-103_803-102insCGGGGAGAGGGAGAGGGAGAGGGAGACGGG GAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGG GAGAGGGAGACGGGGAGAGGGGAGGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGAGAC GGGGGAGAGGAGGAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGAGGCGA GGAGGGAGAGGGAGA	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CBFA2T3_chr16_88869858_88982207	88975155	T T	TCCACCCT others(388): Show TCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCAC CCTGGCCCTCTGCTCCTCACCTGCAGCCATGTCAGAGGTCCACCCTGATC CTCTGCTCCTCACCTGCAGCCATATCAAAGGGCCACCCTGACCCTCTCTG CTCCACATCTTTAGCCATGTCAGAGGTCCACCCTGATCCTCTGCTCCTCA CCTGCAGCCATGTCAGAGGTCCACCCTGACCCTCTCTGCTCCACATCTTT AGCCATGTCAGAGGTCCACCCTGATCCTCTGCTCCTCACCTGCAGCCATA TCAAAGGGCCACCCTGACCCTCTCTGCTCCACATCTTTAGCCATGTCAGA GGTCCACCCTGATCCTCTGCTCCTCACCTGCAGCCATATCAAAGGG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	165	0.0061	395	c.151 others(412): Show c.151+1501_151+1502insCCCTTTGATATGGCTGCAGGTGAGGAGC AGAGGATCAGGGTGGACCTCTGACATGGCTAAAGATGTGGAGCAGAGAGG GTCAGGGTGGCCCTTTGATATGGCTGCAGGTGAGGAGCAGAGGATCAGGG TGGACCTCTGACATGGCTAAAGATGTGGAGCAGAGAGGGTCAGGGTGGAC CTCTGACATGGCTGCAGGTGAGGAGCAGAGGATCAGGGTGGACCTCTGAC ATGGCTAAAGATGTGGAGCAGAGAGGGTCAGGGTGGCCCTTTGATATGGC TGCAGGTGAGGAGCAGAGGATCAGGGTGGACCTCTGACATGGCTGCAGGT GAGGAGCAGAGGGCCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGC AGAGAGGGTCAGGGTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CDC34_chr19_526760_547087	534852	C C	CCCCCGAG others(388): Show CCCCCGAGTGCCCTCCCTGTCCAGACCTCGCCCACGATCCAAGACCCCCG AGTGCCCTCCCTGTCCAGACCTCGCCCACGATCCAAGACCCCCGAGTGCC CGCCCTGTCCAGACCTCGCCCACGATCCAAGACCCCCGAGTGCCCTCCCT GTCCAGACCTCGCCCACGATCCAAGACCCCCGAGTGCCCGCCCTGTCCAG ACCTCGCCCACGATCCAAGACCCCCGAGTGCCCTCCCTGTCCAGACCTCG CCCACGATCCAAGACCCCCGAGTGCCCTCCCTGTCCAGACCTCGCCCACG ATCCAAGACCCCCGAGTGCCCTCCCTGTCCAGACCTCGCCCACGATCCAA GACCCCCGAGTGCCCGCCCTGTCCAGACCTCGCCCACGATCCAAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02895.hp1 HG02897.hp1 others(1): Show HG02630.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	4	226	0.0177	395	c.178 others(410): Show c.178-981_178-980insGAGTGCCCTCCCTGTCCAGACCTCGCCCAC GATCCAAGACCCCCGAGTGCCCTCCCTGTCCAGACCTCGCCCACGATCCA AGACCCCCGAGTGCCCGCCCTGTCCAGACCTCGCCCACGATCCAAGACCC CCGAGTGCCCTCCCTGTCCAGACCTCGCCCACGATCCAAGACCCCCGAGT GCCCGCCCTGTCCAGACCTCGCCCACGATCCAAGACCCCCGAGTGCCCTC CCTGTCCAGACCTCGCCCACGATCCAAGACCCCCGAGTGCCCTCCCTGTC CAGACCTCGCCCACGATCCAAGACCCCCGAGTGCCCTCCCTGTCCAGACC TCGCCCACGATCCAAGACCCCCGAGTGCCCGCCCTGTCCAGACCTCGCCC ACGATCCAAGACCCC	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDC42SE2_chr5_131259053_131399672	131278725	C C	CCCCCTCC others(388): Show CCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCC TCCCCTCCCCCCTCCCCTCCCCCCCCTCCCCCTCCCCCCTCCCCTCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCC TCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0232 a0001c0001t0012g0232	1	237	0.0042	395	c.-45 others(416): Show c.-455+14573_-455+14574insCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCCCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCCTCCCCCTCCCCCC TCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCC CCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCC CTCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPH_chr5_69184583_69215357	69204051	T T	TAATTTCT others(388): Show TAATTTCTATATATATTATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATAGAATATATATATATAGAATATATATATAGAATA TATATATATAGAATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATATAGAATATATATATATAGAATATATATATATAGAATATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATAGAATATATATATATAGAATATATATATATAGAATA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0131 a0004c0004t0001g0131	1	292	0.0034	395	c.487 others(412): Show c.487+1081_487+1082insAATTTCTATATATATTATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATAGAATATATATAT ATAGAATATATATATAGAATATATATATATAGAATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAA TATATATATATAGAATA	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CFAP46_chr10_132803392_132947570	132888305	T T	TACCCCTG others(388): Show TACCCCTGCCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCC GCCTGTACCCCTGCCACCTTCACCCCTGCTGCCTGCACCCCGCCACCTTC ACCCCTGCCACCTGCACCCCTGCCGCCTGTACCCCTGCCACCTTCACCCC TGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCCCTGCCACC TTCACCCCTGCCGCCTGCACCCCTGCCACCTTCACCCCTGCCGCCTGCAC CCCTGCCACCTTCACCCCTGCCGCCTGCACCCCTGCCACCTTCACCCCTG CCGCATGCACCTGCCACCTTCACCCCTGCCGCCTGTACCCCTGCCACCTT CACCCCTGCCGCCTGCACCCCTGCCACCTTCACCCCTGCCGCCTGC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0001 a0009c0021t0001	a0009c0021t0001g0243 a0009c0021t0001g0243	1	224	0.0045	395	c.330 others(414): Show c.3305-2347_3305-2346insGCAGGCGGCAGGGGTGAAGGTGGCAG GGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTACAGGCGGCAGGGGTG AAGGTGGCAGGTGCATGCGGCAGGGGTGAAGGTGGCAGGGGTGCAGGCGG CAGGGGTGAAGGTGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGG GTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGCAGGCGGCAGGGGTGAA GGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTACAGGCGGCA GGGGTGCAGGTGGCAGGGGTGAAGGTGGCGGGGTGCAGGCAGCAGGGGTG AAGGTGGCAGGGGTACAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGG CAGGGGTGAAGGCAGGGGT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888305	T T	TACCCCTG others(388): Show TACCCCTGCCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCC GCCTGTACCCCTGCCACCTTCACCCCTGCTGCCTGCACCCCGCCACCTTC ACCCCTGCCACCTGCACCCCTGCCGCCTGTACCCCTGCCACCTTCACCCC TGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGTACCCCTGCCACC TTCACCCCTGCCGCCTGCACCCCTGCCACCTTCACCCCTGCCGCCTGCAC CCCTGCCACCTTCACCCCTGCCGCCTGCACCCCTGCCACCTTCACCCCTG CCGCATGCACCTGCCACCTTCACCCCTGCCGCCTGTACCCCTGCCACCTT CACCCCTGCCGCCTGCACCCCTGCCACCTTCACCCCTGCCGCCTGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01261.hp1 HG02055.hp2 others(17): Show HG00544.hp2 HG01261.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG03017.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 NA18522.hp2 NA19004.hp2 NA20300.hp1 NA20905.hp2	a0008 a0009 a0019 others(7): Show a0008 a0009 a0019 a0023 a0027 a0028 a0043 a0054 a0056 a0075	a0008c0009 a0008c0097 a0009c0018 others(11): Show a0008c0009 a0008c0097 a0009c0018 a0009c0043 a0019c0027 a0023c0100 a0027c0036 a0027c0060 a0028c0058 a0028c0062 a0043c0093 a0054c0105 a0056c0059 a0075c0098	a0008c0009t0001 a0008c0009t0002 a0008c0097t0001 others(12): Show a0008c0009t0001 a0008c0009t0002 a0008c0097t0001 a0009c0018t0001 a0009c0043t0001 a0019c0027t0002 a0023c0100t0002 a0027c0036t0001 a0027c0060t0001 a0028c0058t0001 a0028c0062t0001 a0043c0093t0001 a0054c0105t0001 a0056c0059t0001 a0075c0098t0002	a0008c0009t0001g0119 a0008c0009t0001g0122 a0008c0009t0001g0123 others(17): Show a0008c0009t0001g0119 a0008c0009t0001g0122 a0008c0009t0001g0123 a0008c0009t0001g0124 a0008c0009t0002g0101 a0008c0097t0001g0120 a0009c0018t0001g0146 a0009c0018t0001g0228 a0009c0043t0001g0209 a0019c0027t0002g0026 a0019c0027t0002g0078 a0023c0100t0002g0018 a0027c0036t0001g0144 a0027c0060t0001g0148 a0028c0058t0001g0208 a0028c0062t0001g0214 a0043c0093t0001g0121 a0054c0105t0001g0239 a0056c0059t0001g0142 a0075c0098t0002g0023	20	243	0.0823	395	c.330 others(414): Show c.3305-2347_3305-2346insGCAGGCGGCAGGGGTGAAGGTGGCAG GGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTACAGGCGGCAGGGGTG AAGGTGGCAGGTGCATGCGGCAGGGGTGAAGGTGGCAGGGGTGCAGGCGG CAGGGGTGAAGGTGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGG GTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTACAGGCGGCAGGGGTGAA GGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTACAGGCGGCA GGGGTGCAGGTGGCAGGGGTGAAGGTGGCGGGGTGCAGGCAGCAGGGGTG AAGGTGGCAGGGGTACAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGG CAGGGGTGAAGGCAGGGGT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGGGAC others(388): Show TGGGGGACATGTGAGGATCATGGGAAGACCCGTGAGGATCATGGGGGGGA CGTGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGA GGATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCA TAGAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGG ACCCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGG ATCATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATGGGAA GACGTGAGGATCATGGGGGGGACGTGTGAGGATCATGGGGGGACCCATGA GGGTCATGGGGGGACGTGAGGATTGGGGGGACCCGTGAGGATCATG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	23	0.0435	395	c.177 others(412): Show c.1776+248_1776+249insACATGTGAGGATCATGGGAAGACCCGTG AGGATCATGGGGGGGACGTGTGAGGATCATAGGGGAGACCCGTGAGGGTC ATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTGTGAGGATCATGGGG GGATGTGTGAGGATCATAGAGGGGACATGTGAGGATCATGGAGGGCATGT GAGGATCATGGGGGGGACCCGTGAGGATCATGGGGGACATGTGAGGATCA TGGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGACAT GTGAGGATCATGGGAAGACGTGAGGATCATGGGGGGGACGTGTGAGGATC ATGGGGGGACCCATGAGGGTCATGGGGGGACGTGAGGATTGGGGGGACCC GTGAGGATCATGGGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COQ8A_chr1_226935294_226992544	226960391	A A	AGTGGTAC others(388): Show AGTGGTACTTGGTGGTGGTGGTGCTTGGTGGTGGTGGTACTTGGTGGTGG TGGTGGTACTTGGTGATGGTACTTGGTGGTGGTGGTACTTGGTGGTGGCA GTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTAGTGGTGGTACT TGGTGGTGGCGGTGGTACTTGGTGGTGCTGGTGGTGCTTGGTGGTGGTGG TGGTACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGGTGGTGGTACTTG GTGGTGGTACTTGGTGGTACTTGGTGGTGGTGGCGGTACTTGGTGGTGGT GGCGGTGGCACTTGGTGGTGGTGGTGCTTGGTGGTGGTGATGGTACTTGG TGGTGGTGATGGTACTTGGTGGTGGTGGTGGTGGTACTTGGTGGTG	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	20	0.0500	395	c.-9- others(408): Show c.-9-981_-9-980insACTTGGTGGTGGTGGTGCTTGGTGGTGGTGGT ACTTGGTGGTGGTGGTGGTACTTGGTGATGGTACTTGGTGGTGGTGGTAC TTGGTGGTGGCAGTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGT AGTGGTGGTACTTGGTGGTGGCGGTGGTACTTGGTGGTGCTGGTGGTGCT TGGTGGTGGTGGTGGTACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGG TGGTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTGGCGGTA CTTGGTGGTGGTGGCGGTGGCACTTGGTGGTGGTGGTGCTTGGTGGTGGT GATGGTACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGGTGGTGGTACT TGGTGGTGGTGGT	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8A_chr1_226935294_226992544	226960391	A A	AGTGGTAC others(388): Show AGTGGTACTTGGTGGTGGTGGTGCTTGGTGGTGGTGGTACTTGGTGGTGG TGGTGGTACTTGGTGATGGTACTTGGTGGTGGTGGTACTTGGTGGTGGCA GTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTGGTGGTACT TGGTGGTGGCGGTGGTACTTGGTGGTGCTGGTGGTGCTTGGTGGTGGTGG TGGTACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGGTGGTGGTACTTG GTGGTGGTACTTGGTGGTACTTGGTGGTGGTGGCGGTACTTGGTGGTGGT GGCGGTGGCACTTGGTGGTGGTGGTGCTTGGTGGTGGTGATGGTACTTGG TGGTGGTGATGGTACTTGGTGGTGGTGGTGGTGGTACTTGGTGGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00558.hp1 others(56): Show HG00099.hp1 HG00423.hp2 HG00558.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01168.hp2 HG01175.hp1 HG01358.hp1 HG01952.hp2 HG02040.hp2 HG02056.hp1 HG02083.hp2 HG02135.hp1 HG02300.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03490.hp2 HG03491.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 NA18612.hp1 NA18943.hp1 NA18944.hp1 NA18957.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18977.hp1 NA18983.hp2 NA18995.hp2 NA19007.hp2 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0008 a0004c0017 others(1): Show a0001c0001 a0001c0008 a0004c0017 a0008c0015	a0001c0001t0001 a0001c0001t0004 a0001c0008t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0008t0001 a0004c0017t0001 a0008c0015t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0023 others(51): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0075 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0309 a0001c0001t0001g0334 a0001c0001t0004g0143 a0001c0008t0001g0084 a0001c0008t0001g0085 a0001c0008t0001g0086 a0004c0017t0001g0016 a0008c0015t0001g0106	59	78	0.7564	395	c.-9- others(408): Show c.-9-981_-9-980insACTTGGTGGTGGTGGTGCTTGGTGGTGGTGGT ACTTGGTGGTGGTGGTGGTACTTGGTGATGGTACTTGGTGGTGGTGGTAC TTGGTGGTGGCAGTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGT GGTGGTGGTACTTGGTGGTGGCGGTGGTACTTGGTGGTGCTGGTGGTGCT TGGTGGTGGTGGTGGTACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGG TGGTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTGGCGGTA CTTGGTGGTGGTGGCGGTGGCACTTGGTGGTGGTGGTGCTTGGTGGTGGT GATGGTACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGGTGGTGGTACT TGGTGGTGGTGGT	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRTC3_chr15_90524923_90650345	90647387	A A	ACCCCTCC others(388): Show ACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCT CCACACCCCTCTTCCTCCTCCATACCCCTCCTCCTCAACCCTCCTCCTTC ACACCCCTCACCCCTTTTCCACATCCCTCCTCCTTGCCCCTCCTCCTCAC CCTTTGTCCTCCTCCACACCCCTTCTCCTCCTCCATACCCCTCCTTCTCA ACCCTCCTCCTCCACACCCCTCCTCCTCACCCCTTCTCCTCCTCCACACC TGTCCTCCTCCACACTCATCCTCCTCACCGTTCCTCCACCACATCCCTCC TCCTCCACACCCCTCCTCACCCCTTGTCCTCCTCCAAACGCTTCTTCCTC CTGTTTCTTCCTCCACACCCCTCCTGCTCCACATCCCTCCCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	263	0.0038	395	c.52 others(406): Show c.5247_*5248insCCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTC CACACCCCTCCTCCTCCACACCCCTCTTCCTCCTCCATACCCCTCCTCCT CAACCCTCCTCCTTCACACCCCTCACCCCTTTTCCACATCCCTCCTCCTT GCCCCTCCTCCTCACCCTTTGTCCTCCTCCACACCCCTTCTCCTCCTCCA TACCCCTCCTTCTCAACCCTCCTCCTCCACACCCCTCCTCCTCACCCCTT CTCCTCCTCCACACCTGTCCTCCTCCACACTCATCCTCCTCACCGTTCCT CCACCACATCCCTCCTCCTCCACACCCCTCCTCACCCCTTGTCCTCCTCC AAACGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTCCACATC CCTCCCCCTCC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2043		chr15	TogoVar
DCDC2C_chr2_3698575_3853008	3725555	C C	CGGTGGAT others(388): Show CGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGGGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGA GTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGC CAGGTGGATCCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02970.hp1 HG02818.hp2 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0029 a0001c0002t0002g0305 a0001c0002t0001g0029 a0001c0002t0002g0305	2	129	0.0155	395	c.340 others(412): Show c.340-1405_340-1404insCGGGGGATCCCAGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCCTGGAGGGAGATGAGCAGAGAGTGAGGAGGCTGCCAGGTGGAT CCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGA GGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGAT GAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAG AGAGGGAGGAGGCTGCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(388): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAT GAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGAATGG AGGGATGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGGAGGGGG GGAGGGGAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGG GGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0163 a0002c0002t0013g0163	1	97	0.0103	395	c.923 others(414): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCC CTCCCCTTCCCCTCCCCTCCCCCCCTCCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCATTCCTCCCT CCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(388): Show TGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGG GGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGGGGGGGGTGAGGG AGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGG GAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	164	0.0061	395	c.-42 others(406): Show c.-4257_-4256insGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGG TGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(388): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGG AGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	164	0.0061	395	c.-42 others(406): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG TGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCG GGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DGAT1_chr8_144309584_144331852	144313795	C C	CTCCCCGC others(388): Show CTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGC GCCGCCTCCCCGCCCCGCCTCCCCGCCCCGCCTCCCCGCGCCACCTCCCC GCCTCCCCGCCCCGCCTCCCCGCCCCGCCTCCCCGCCCCGCCTCCCCGCG CCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCGCCGCCTCC CCGCCCCGCCTCCCCGCCCCGCCTCCCCGCGCCGCCTCCCCGCCCCGCCT CCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCGC CGCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCGCCGC CTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0037 a0001c0001t0028g0037	1	164	0.0061	395	c.27 others(406): Show c.2758_*2759insAGCGGGGAGGCGGGGAGGCGGGGAGGCGGCGCGG GGAGGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGCGG GGAGGCGGGGCGGCGCGGGGAGGCGGGGCGGGGAGGCGGGGAGGCGGGGC GGGGAGGCGGGGAGGCGGGGCGGGGAGGCGGCGCGGGGAGGCGGGGCGGG GAGGCGGGGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGGGAGGCGGC GCGGGGAGGCGGCGCGGGGAGGCGGGGCGGGGAGGCGGGGCGGGGAGGCG GGGCGGGGAGGCGGGGAGGTGGCGCGGGGAGGCGGGGCGGGGAGGCGGGG CGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGGGAGGCGGCGCGGGGAGG CGGCGCGGGGA	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		788		chr8	TogoVar
DGKQ_chr4_953887_978569	968179	C C	CGCCTCTC others(388): Show CGCCTCTCCTGCCCCGCCCCCCCAACTCCTCCACCTCCCAGCACCCACCC AACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCCACCTCCCAGCGCC CCCCTGGACCCCGTGCCTCTCCTGCCCCGCCCCCCCAACTCCTCCACCTC CCAGCACCCACCCAACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCC ACCTCCCAGCGCCCCCCTGGACCCCGTGCCTCTCCTGCCCCACCCCCACC CCCTCCACCTCCCAGCGCCTCCCTGGACCCCGTGCCTCTCCTGCCCCGCC CCCCCAACTCCTCCACCTCCCAGCACCCACCCAACCCCGCACCTCTCCTG CCCCACCCCCACCCCCTCCACCTCCCAGCGCCTCCCTGGACCCCGT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0125 a0002c0003t0003g0125	1	274	0.0036	395	c.663 others(410): Show c.663+102_663+103insACGGGGTCCAGGGAGGCGCTGGGAGGTGGA GGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGGTGGGTGCTGGGAG GTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGGCACGGGGTCCAGGGAGGC GCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAGGAGAGGCACGGGGTCCAG GGGGGCGCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAGGAGAGGTGCGGG GTTGGGTGGGTGCTGGGAGGTGGAGGAGTTGGGGGGGCGGGGCAGGAGAG GCACGGGGTCCAGGGGGGCGCTGGGAGGTGGAGGGGGTGGGGGTGGGGCA GGAGAGGTGCGGGGTTGGGTGGGTGCTGGGAGGTGGAGGAGTTGGGGGGG CGGGGCAGGAGAGGC	DGKQ	ENSG00000145214.14	transcript	ENST00000273814.8	protein_coding	5/22			chr4	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCACCCGC others(388): Show CCACCCGCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCC ACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCACCCTCACCCTCAC CCCCACCCCCACCCCCACCCCACCCCCACCCCCACCCTCACCCCCACCCC CACCCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCACCCCCAC CCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCACCCCCACCC CCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCC ACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0043 a0004c0043	a0004c0043t0001 a0004c0043t0001	a0004c0043t0001g0112 a0004c0043t0001g0112	1	264	0.0038	395	c.39 others(406): Show c.3990_*3991insCGGGTGGGGGGTGGGGGTGGGGGTGCGGGTGGGG GTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGT GGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGC GGGTGGGGGTGGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCG GTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGT GGGGGTGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGTGGGG GTGGGGGTGGGGGTGAGGGTGAGGGTGGGGGTGCCGGTGCGGGTGGGGGT GCCGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGC GGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2500		chr20	TogoVar
DPEP1_chr16_89608642_89643433	89634674	C C	CCCTTCCT others(388): Show CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03486.hp2 NA19043.hp1 others(1): Show HG03471.hp1 HG03486.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0247 others(1): Show a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0248	4	146	0.0274	395	c.105 others(412): Show c.105-1232_105-1231insTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCC TTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTC CCCTTCCTTCCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(388): Show ATATATACTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATACTATATATATAGTATA TATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTAT ATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATAT ATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATAT ATAGTGTATATATATAGTATATATATATAGTGTATATATATAGTATATAT ATAGTATATATATAGTATATATAGTATATATGTATATATATATAGT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	169	0.0059	395	c.355 others(414): Show c.355-25704_355-25703insTATATACTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTAT ATATATACTATATATATAGTATATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATAGTATATATATATAGTATATATATAGTATATATATAGTATATATATA TAGTATATATATAGTATATATATATAGTGTATATATATAGTATATATATA TAGTGTATATATATAGTATATATATAGTATATATATAGTATATATAGTAT ATATGTATATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
FLACC1_chr2_201283271_201362345	201284699	A A	AGAGGGAG others(388): Show AGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAG GGAGACGGGGAGAGGGGAGGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAG GGAGGCGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGAGACGGGGG AGAGGAGGAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGAGGCGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	368	0.0027	395	c.39 others(406): Show c.3955_*3956insCTCGCCTCTCCCTCTCCCTCTCCCTCTCGTCTCC CTCTCCTCCTCTCCCCCGTCTCCTCTCCCTCTCCCCGTCTCCCTCTCCCT CTCCCCGCCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGCCT CCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCCTCCCCT CTCCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCC CGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTC TCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCC CTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCT CCCTCTCCCTC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3571		chr2	TogoVar
FLACC1_chr2_201283271_201362345	201284713	A A	AGGGAGAC others(388): Show AGGGAGACGGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGG GAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGA CGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGAGAGGGAGAGGGAGACGGGGAGAGGGGGAGAGGGAGACGGGGA GAGGGGAGAGGGAGACGGGGAGGAGGGAGAGGGAGGGAGAGGGAGACCGG GGGAGAGGGAGAGGAGACGGGGGAGAGGGAGAGGGGAGGCGGGGAGAGGG AGAGGGAGACGGGGAGAGGGAGAGGGGAGGACGGGGAGAGGGGAGAGGGA GACGAGAGGGGAGAGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0007	1	366	0.0027	395	c.39 others(406): Show c.3941_*3942insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCCTC TCCCCTCTCGTCTCCCTCTCCCCTCTCCCCGTCCTCCCCTCTCCCTCTCC CCGTCTCCCTCTCCCTCTCCCCGCCTCCCCTCTCCCTCTCCCCCGTCTCC TCTCCCTCTCCCCCGGTCTCCCTCTCCCTCCCTCTCCCTCCTCCCCGTCT CCCTCTCCCCTCTCCCCGTCTCCCTCTCCCCCTCTCCCCGTCTCCCTCTC CCTCTCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCT CCCCGTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCC TCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTC CCCCGTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3557		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805963	T T	TCCGCAGG others(388): Show TCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC CCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCTCCCTCCCTCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAACCCAGGGACCTCCGCAGGCCTCCCTCCCTCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCTCCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	245	0.0041	395	c.17 others(406): Show c.1797_*1798insCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGC CTCCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCA GGGACCTCTGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCTCCCTC CCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCTCCCTCCCTCCCCCTCAGCCCAGGGACCT CTGCAGGCCAC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1677		chr2	TogoVar
GET4_chr7_871554_901436	890216	G G	GGGTCTGG others(388): Show GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGA GTGGAGGGAGCGTGAGTAGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAG CGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGG TGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGG GGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGT GGAGGGAGCGTGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGT TAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18953.hp1 NA19065.hp1 HG02074.hp1 NA18953.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0116 a0001c0002t0001g0120 a0001c0002t0003g0115 a0001c0002t0001g0116 a0001c0002t0001g0120 a0001c0002t0003g0115	3	349	0.0086	395	c.467 others(410): Show c.467-710_467-709insTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTAGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCG AGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTT AGGACGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGTCT GGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAG GGAGCGTGAGTGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAG CGGGTGTCAGGACGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	890216	G G	GGGTCTGG others(388): Show GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGA GTGGAGGGAGCGTGAGTGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAG CGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGG TGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGG GGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGT GGAGGGAGCGTGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02040.hp2 HG02135.hp1 others(6): Show HG00558.hp1 HG02040.hp2 HG02135.hp1 NA18954.hp2 NA18959.hp1 NA18987.hp2 NA19002.hp1 NA19065.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0019 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0019 a0001c0002t0020	a0001c0002t0001g0029 a0001c0002t0001g0095 a0001c0002t0001g0096 others(6): Show a0001c0002t0001g0029 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0269 a0001c0002t0003g0029 a0001c0002t0003g0097 a0001c0002t0003g0098 a0001c0002t0019g0094 a0001c0002t0020g0085	9	355	0.0254	395	c.467 others(410): Show c.467-710_467-709insTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCG AGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTT AGGACGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGTCT GGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAG GGAGCGTGAGTGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAG CGGGTGTCAGGACGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	890216	G G	GGGTCTGG others(388): Show GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGA GTGGAGGGAGCGTGAGTGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAG CGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGG TGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGG GGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGT GGAGGGAGCGTGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGT TAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00642.hp2 others(17): Show HG00323.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG01069.hp2 HG01074.hp1 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG02273.hp2 HG02602.hp1 HG02735.hp2 HG03704.hp1 HG04115.hp2 NA19055.hp1 NA19081.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0018 a0001c0002 a0003c0018	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0030 a0001c0002t0038 a0003c0018t0002	a0001c0002t0001g0080 a0001c0002t0001g0089 a0001c0002t0001g0102 others(12): Show a0001c0002t0001g0080 a0001c0002t0001g0089 a0001c0002t0001g0102 a0001c0002t0001g0110 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0091 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0214 a0001c0002t0005g0027 a0001c0002t0005g0028 a0001c0002t0030g0010 a0001c0002t0038g0090 a0003c0018t0002g0010	20	366	0.0546	395	c.467 others(410): Show c.467-710_467-709insTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCG AGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTT AGGACGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGTCT GGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAG GGAGCGTGAGTGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAG CGGGTGTCAGGACGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GNG4_chr1_235542685_235654784	235587634	A A	ATGTGTGT others(388): Show ATGTGTGTGTGAGAGTATGGGTGTGTGTGGGTGTGTGTCTGGGTGTGGGG TAGGGGGTGAGAGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGAGTGTGAG TGTGGGAGGGTGTGGGGTGGGGTGAGTGTGTGGGAGGGTGTGGGGTGGGG GTGAGCATGAGTGTGGGAGGGTGTGGGGGTGTGAGTGTGGGAGGGTGTGG GGTGGGGTGAGAGCATGGGAGGGTGTGGGGTGGGGGTGAGTGTGACTGTG GGAGAGTGTGGGGTGGGGGTGAATGTGAGTGTGGGAGGGTGTGGGGTGGG GGTGTGAGTGTGGGAGGGTGTGGGGTGTGTGAATGTGTGGGGTGGATGTG TGTGTGAGCGTGGGTTTGTGGGTGTGTGTCAGGGTGTGTGGTGTGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp2 HG03130.hp2 HG02109.hp1 HG02717.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0048 a0001c0002t0049 a0001c0002t0046 a0001c0002t0048 a0001c0002t0049	a0001c0002t0046g0309 a0001c0002t0048g0260 a0001c0002t0049g0025 a0001c0002t0046g0309 a0001c0002t0048g0260 a0001c0002t0049g0025	3	66	0.0455	395	c.-10 others(412): Show c.-10-3787_-10-3786insCCACACCACACACCCTGACACACACCCA CAAACCCACGCTCACACACACATCCACCCCACACATTCACACACCCCACA CCCTCCCACACTCACACCCCCACCCCACACCCTCCCACACTCACATTCAC CCCCACCCCACACTCTCCCACAGTCACACTCACCCCCACCCCACACCCTC CCATGCTCTCACCCCACCCCACACCCTCCCACACTCACACCCCCACACCC TCCCACACTCATGCTCACCCCCACCCCACACCCTCCCACACACTCACCCC ACCCCACACCCTCCCACACTCACACTCACCCCCACCCCACACCCTCCCAC ACTCACTCTCACCCCCTACCCCACACCCAGACACACACCCACACACACCC ATACTCTCACACACACA	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	2/3			chr1	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(388): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT TCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTCC TTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCC CTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCT TCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCT CCTTCCCCTTTCCACCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00733.hp1 HG01081.hp2 others(8): Show HG00408.hp2 HG00733.hp1 HG01081.hp2 HG01952.hp2 HG01975.hp2 HG02129.hp1 HG02602.hp1 HG04184.hp1 HG04199.hp2 NA18995.hp2 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0010 a0002c0003t0001 a0001c0001t0001 a0001c0001t0010 a0002c0003t0001	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 others(8): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0010g0082 a0002c0003t0001g0037 a0002c0003t0001g0286	11	112	0.0982	395	c.972 others(410): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCCTTCCCCCTCCCCTCCTTCCCCTTTCCACCTTCCCCCTCCCCTCCTTC CCCCTTCCCCCCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(388): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT TCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTCC TTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCC CTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCT TCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCT CCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00642.hp2 others(19): Show HG00280.hp1 HG00323.hp2 HG00642.hp2 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01261.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02738.hp1 HG02965.hp1 HG03017.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03654.hp1 HG03834.hp2 HG03942.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0050 others(19): Show a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0156 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0008g0087	22	123	0.1789	395	c.972 others(410): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTC CCCCTTCCCCCCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(388): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT TCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTCC TTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCC CTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCT TCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCTCTCCCCT CCTTCCCCTTTCCACCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02132.hp1 NA19004.hp2 HG02129.hp2 HG02132.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0036	3	104	0.0288	395	c.972 others(410): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCCTTCCCTCTCCCCTCCTTCCCCTTTCCACCTTCCCCCTCCCCTCCTTC CCCCTTCCCCCCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(388): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCTCCCCTCCTTCCCCCTCCCCTCCTTT CCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCCC CTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTCCT TCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCC TTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTT CCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTC CTTCCCCTTTCCACCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCCC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0009 a0005c0010t0009	a0005c0010t0009g0034 a0005c0010t0009g0034	1	102	0.0098	395	c.972 others(410): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCTCCCCTCCTT CCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCAC CTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCC CTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCT TCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTC CCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCC CCTTCCCCCTCCCCTCCTTCCCCTTTCCACCTTCCCCCTCCCCTCCTTCC CCCTTCCCCCCCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GSE1_chr16_85608322_85681200	85653242	T T	TCCCCCCT others(388): Show TCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCT CCTCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CCCCCCTCCCCCCCTCCTCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCTC CCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCTCCTCCCCCTCCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCCCCCCTCCTCCTCCTC CTCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTC CTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCC CCTCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0219 a0001c0001t0007g0219	1	258	0.0039	395	c.427 others(412): Show c.427-1034_427-1033insCCCCTCCTCCCCCCCTCCTCCCCCCTCC TCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCCCCCTCCTCC CCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCTCCTCCCC CCCTCCCCCCCTCCTCCTCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTC CCCCTCCTCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCCCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCCCCCTCCTC CTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCC CCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCCCCC CCTCCTCCTCCTCCCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GUCY1A2_chr11_106669019_107023476	106710081	A A	ATGTATAT others(388): Show ATGTATATTATATACATGTATATAACATATAGTTATGTATATTATATACA TGTATATAACATATAGTTATGTATATTATATACATGTATATAACATATAG TTATGTATATTATATACATGTATATAACATATAGTTATGTATATTATATA CATGTATATAACATATAGTTATGTATATTATATACATGTATATAACATAT AGTTATGTATATTATATACATGTATATAACATATAGTTATGTATATTATA TACATGTATATAACATAGTTATATACATATAACTATATGTATATAATATA TAGTACATGTATATAATATATAGTTATATATAATATAGTTATATACATGT ATATAATATATAGTTATATATAATAGTTATATATATTATATACATG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02683.hp2 HG02809.hp1 others(4): Show HG02622.hp1 HG02683.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG04184.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0004 a0001c0001t0006 a0001c0001t0016 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0016 a0001c0003t0016 a0001c0004t0001 a0001c0004t0002	a0001c0001t0004g0069 a0001c0001t0006g0043 a0001c0001t0016g0172 others(4): Show a0001c0001t0004g0069 a0001c0001t0006g0043 a0001c0001t0016g0172 a0001c0003t0016g0238 a0001c0003t0016g0246 a0001c0004t0001g0219 a0001c0004t0002g0221	7	111	0.0631	395	c.183 others(414): Show c.1837-1416_1837-1415insCATGTATATAATATATATAACTATTA TATATAACTATATATTATATACATGTATATAACTATATTATATATAACTA TATATTATATACATGTACTATATATTATATACATATAGTTATATGTATAT AACTATGTTATATACATGTATATAATATACATAACTATATGTTATATACA TGTATATAATATACATAACTATATGTTATATACATGTATATAATATACAT AACTATATGTTATATACATGTATATAATATACATAACTATATGTTATATA CATGTATATAATATACATAACTATATGTTATATACATGTATATAATATAC ATAACTATATGTTATATACATGTATATAATATACATAACTATATGTTATA TACATGTATATAATATACA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HSF1_chr8_144286604_144319720	144313795	C C	CTCCCCGC others(388): Show CTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGC GCCGCCTCCCCGCCCCGCCTCCCCGCCCCGCCTCCCCGCGCCACCTCCCC GCCTCCCCGCCCCGCCTCCCCGCCCCGCCTCCCCGCCCCGCCTCCCCGCG CCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCGCCGCCTCC CCGCCCCGCCTCCCCGCCCCGCCTCCCCGCGCCGCCTCCCCGCCCCGCCT CCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCGC CGCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCGCCGC CTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0030 a0001c0001t0009g0030	1	136	0.0074	395	c.124 others(410): Show c.1249-44_1249-43insGCCGCCTCCCCGCGCCGCCTCCCCGCCTCC CCGCCTCCCCGCGCCGCCTCCCCGCCCCGCCTCCCCGCCCCGCCTCCCCG CGCCACCTCCCCGCCTCCCCGCCCCGCCTCCCCGCCCCGCCTCCCCGCCC CGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCC CGCGCCGCCTCCCCGCCCCGCCTCCCCGCCCCGCCTCCCCGCGCCGCCTC CCCGCCCCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCCCC GCCTCCCCGCGCCGCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCC TCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCC TCCCCGCTTCCCCGC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
IFNAR1_chr21_33319970_33364864	33322703	T T	TAATATAT others(388): Show TAATATATATACGGAATATATATATACGGAATATATATATAATATATATA CGGAATATATATATAATATATATACGGAATATATATATAATATATATACG GAATATATATATAATATATATACGGAATATATATATACGGAATATATATA TAATATATATACGGAATATATATATACGGAATATATATATAATATATATA CGGAATATATATATACGGAATATATATATAATATATATACGGAATATATA TAAACGGAATATATATATAATATATATACGGAATATATATAAACGGAATA TATATATAATATATATACGGAATATATATATACGGAATATATATATAATA TATATACGGAATATATATATAATATATATATATAATATATATACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0102 a0003c0003t0009g0102	1	100	0.0100	395	c.-23 others(406): Show c.-2353_-2352insAATATATATACGGAATATATATATACGGAATATA TATATAATATATATACGGAATATATATATAATATATATACGGAATATATA TATAATATATATACGGAATATATATATAATATATATACGGAATATATATA TACGGAATATATATATAATATATATACGGAATATATATATACGGAATATA TATATAATATATATACGGAATATATATATACGGAATATATATATAATATA TATACGGAATATATATAAACGGAATATATATATAATATATATACGGAATA TATATAAACGGAATATATATATAATATATATACGGAATATATATATACGG AATATATATATAATATATATACGGAATATATATATAATATATATATATAA TATATATACGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2266		chr21	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(388): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGG AAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAA GGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGA AGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	1	154	0.0065	395	c.290 others(414): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTC CTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCC CTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCC TCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTCCCTCCC TTCCTCCCTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(388): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGG AAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAA GGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGG AGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	154	0.0065	395	c.290 others(414): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTTTCTCCCTTCCTCCCTCCCTTC CTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCC CTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCC TCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTCCCTCCC TTCCTCCCTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(388): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGG AAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAA GGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGG AGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03471.hp1 HG04184.hp2 HG03225.hp1 HG03471.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0002 a0001c0001t0002 a0001c0006t0002	a0001c0001t0002g0041 a0001c0001t0002g0115 a0001c0006t0002g0120 a0001c0001t0002g0041 a0001c0001t0002g0115 a0001c0006t0002g0120	3	156	0.0192	395	c.290 others(414): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCC CTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCC CTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCC TCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTCCCTCCC TTCCTCCCTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(388): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGG AAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAA GGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGG AGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG03491.hp2 HG00642.hp2 HG00741.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112	3	156	0.0192	395	c.290 others(414): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCC CTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCC CTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCC TCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTCCCTCCC TTCCTCCCTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(388): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGG AAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAA GGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGG AGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	154	0.0065	395	c.290 others(414): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCC CTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCC CTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCC TCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTCCCTCCC TTCCTCCCTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INO80_chr15_40973880_41121280	41031563	A A	AGGGAGGA others(388): Show AGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAG GGAGAAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGG AGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAG GGAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGAGAAGGAAG GAAGGGGAAGGGAGGAAGGAGAAGGGAGGAAGGGAGGAGGGAGGAAGGGA GGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGA AGGGAGAAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAG GGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	1	246	0.0041	395	c.290 others(414): Show c.2908-3828_2908-3827insCCCTTCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCT CCCTTCCTCCCTTTCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTC TCCTTCCTCCCTTCCCCTTCCTTCCTTCTCCTTCCTCCCTTCCTCCCTCC CTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC CTCCCTTCCTCCCTTTCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCT CCCTTCCTCCCTTCCTCCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INSR_chr19_7107265_7299414	7153367	C C	CCACACAC others(388): Show CCACACACACCACACACCACACACACCAAACACACCATACATGCACCACA CACACACCACATGCACACCTCACACACCATACCACACACCACACACACCA CACAAATCACACACATACTACACACACCCACGCCACACACCACACACCAC ACACGCCACACAACGGACCACACATACACCACACACCACAAACACAACCA CACACACACTATACACACACACCACACACACCACACAACAGACCACACAT ACACACACCACACACCACACACACCATACACACACACCACACATACCACA CACACCACACACACAACCACACACACACCACACACACAACACACAACAGA CCACACATACACACACCACAAACACAACCACACACACCACACCATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0281 a0001c0048t0001g0281	1	9	0.1111	395	c.203 others(412): Show c.2030-441_2030-440insTATGGTGTGGTGTGTGTGGTTGTGTTTG TGGTGTGTGTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGT GGTTGTGTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGTGT GTGGTGTGTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGGTGT GTGTGTATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTGTG GTCCGTTGTGTGGCGTGTGTGGTGTGTGGTGTGTGGCGTGGGTGTGTGTA GTATGTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTATGGTGTGTGAG GTGTGCATGTGGTGTGTGTGTGGTGCATGTATGGTGTGTTTGGTGTGTGT GGTGTGTGGTGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7153368	C C	CACACACA others(388): Show CACACACACCACACACCACACACACCAAACACACCATACATGCACCACAC ACACACCACATGCACACCTCACACACCATACCACACACCACACACACCAC ACAAATCACACACATACTACACACACCCACGCCACACACCACACACCACA CACGCCACACAACGGACCACACATACACCACACACCACAAACACAACCAC ACACACACTATACACACACACCACACACACCACACAACAGACCACACATA CACACACCACACACCACACACACCATACACACACACCACACATACCACAC ACACCACACACACAACCACACACACACACCACACACACAACACACAACAG ACCACACATACACACACCACAAACACAACCACACACACCACACCAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02004.hp1 HG01175.hp2 HG02004.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0137 a0001c0007t0001 a0001c0007t0137	a0001c0007t0001g0267 a0001c0007t0137g0265 a0001c0007t0001g0267 a0001c0007t0137g0265	2	298	0.0067	395	c.203 others(412): Show c.2030-442_2030-441insATGGTGTGGTGTGTGTGGTTGTGTTTGT GGTGTGTGTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGTG TGGTTGTGTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGTG TGTGGTGTGTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGGTG TGTGTGTATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTGT GGTCCGTTGTGTGGCGTGTGTGGTGTGTGGTGTGTGGCGTGGGTGTGTGT AGTATGTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTATGGTGTGTGA GGTGTGCATGTGGTGTGTGTGTGGTGCATGTATGGTGTGTTTGGTGTGTG TGGTGTGTGGTGTGTGT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(388): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGT GGAATTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCT CAGGAGGGAGAGGTGGAATTCGGTGGGGAGGCGGGGCTCAGGGGGGAGGC GGGGCTCTGGAGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCGGGG GGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0009 a0003c0005t0009	a0003c0005t0009g0281 a0003c0005t0009g0281	1	100	0.0100	395	c.623 others(412): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAATTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGGCT CTGGAGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAATTCGGTGGGGAGG CGGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGGCTCTGGA GGGGAGGCGGGGCTCGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGC TCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar

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