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
GADD45B_chr19_2471127_2483257	2480930	A A	ACCTGTAG others(457): Show ACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAC CCAGCAGAGATACTGCCACTGCGGTCTGTCTCAAAAAAAAAAAAAGAAAA AAAATTAAAAAAGAAAAACAACAAAAAAGAAGCAGGGTCATGCTCTGTTG CCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTCACTGCAGCCTCGACCT CCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCCTGAGTAGCTGGGACTA AAGGTGCACACCACCATGCCTAGCTATTTGTTACTTTTTTTTGTAGAAAT GGGGTCTCACTGGCTGGGCGCGGTGGCTCACACAGGTAATCTCAGCACTT TGGGAGGCCGAGACAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCATCTCTACTAAAAATACGAAAATTAGCTGG GTGTGGTGGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18953.hp2 NA19082.hp1 NA18942.hp1 NA18953.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0002 a0001c0001t0004g0011 a0001c0001t0002g0002 a0001c0001t0004g0011	3	460	0.0065	464	c.33 others(475): Show c.3329_*3330insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCCAGCAGAGATACTGCCACTGCGGTCTGTCTCAAA AAAAAAAAAAGAAAAAAAATTAAAAAAGAAAAACAACAAAAAAGAAGCAG GGTCATGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTCA CTGCAGCCTCGACCTCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCCT GAGTAGCTGGGACTAAAGGTGCACACCACCATGCCTAGCTATTTGTTACT TTTTTTTGTAGAAATGGGGTCTCACTGGCTGGGCGCGGTGGCTCACACAG GTAATCTCAGCACTTTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAT ACGAAAATTAGCTGGGTGTGGTGGTGGGCG	GADD45B	ENSG00000099860.9	transcript	ENST00000215631.9	protein_coding		2674		chr19	TogoVar
GAL3ST2_chr2_241771822_241809287	241807934	C C	CTCCCCCC others(457): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACTCTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGAACCTCTGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGAACCTCTGCAGGCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGTAC CTCCGCAGGCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	314	0.0032	464	c.37 others(475): Show c.3768_*3769insTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACT CTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGG AACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGAACCTCTGCAGGCCTCCCTCCCTCCCCCCTCAA CCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGT CTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAACCCAGGTACCTCCGCAGGCCACCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3648		chr2	TogoVar
GNA14_chr9_77418079_77653322	77452609	A A	ATGGAAGT others(457): Show ATGGAAGTGTGTCCGTGGTGTGTGTGGAGGTATATGTGTGTGTGCTGTGC ATATGTGTATGTCTGTGGTGTGTATGTGTGTGTGGTGTGCTTATGTGTAT GTGTATGGTGTGTGTGTGGTATGTGTATGTGTGTGGTGTATGTGTGTGGT GCATGTGTGTGGTTTGTGTCTGTGTGTGTGGCATGTATGTGTATGTGTGT GGTGTGTTTGTGGTATGTGTGTATGTGTATGGTGTGTATGTGTATGTGTG TGGTGTGTCTGTGTGGTGTGTATGTGTGTGGTATGTATGTGTGTGGTGTG TATGTGTGTGTGGTATGTGTGTACGTGTGGTGTGTATGTGTGTGGTGTGT GTGGTATGTGTGTGTTGTGTGGTGTGTGTGTATGTGTGTGGTGTGTGTGT AGTATCTGTGTATGTGTGGTGTGGTGTGTGGTATGTGTGTAGTGTGTTTA TGTATGTGTGGGGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02257.hp1 HG02559.hp1 others(6): Show HG00741.hp1 HG02257.hp1 HG02559.hp1 HG02809.hp1 HG03098.hp2 HG03130.hp2 HG03579.hp1 HG06807.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0012 a0001c0001 a0001c0006 a0001c0012	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0006t0010 a0001c0012t0004	a0001c0001t0001g0010 a0001c0001t0008g0176 a0001c0001t0008g0190 others(6): Show a0001c0001t0001g0010 a0001c0001t0008g0176 a0001c0001t0008g0190 a0001c0001t0012g0147 a0001c0001t0013g0048 a0001c0001t0013g0138 a0001c0001t0013g0148 a0001c0006t0010g0083 a0001c0012t0004g0165	9	240	0.0375	464	c.310 others(483): Show c.310-18088_310-18087insCACCCCACACATACATAAACACACTA CACACATACCACACACCACACCACACATACACAGATACTACACACACACC ACACACATACACACACACCACACAACACACACATACCACACACACCACAC ACATACACACCACACGTACACACATACCACACACACATACACACCACACA CATACATACCACACACATACACACCACACAGACACACCACACACATACAC ATACACACCATACACATACACACATACCACAAACACACCACACACATACA CATACATGCCACACACACAGACACAAACCACACACATGCACCACACACAT ACACCACACACATACACATACCACACACACACCATACACATACACATAAG CACACCACACACACATACACACCACAGACATACACATATGCACAGCACAC ACACATATACCTCCACACACACCACGGACACACTTCCA	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6			chr9	TogoVar
GNA14_chr9_77418079_77653322	77452609	A A	ATGGAAGT others(457): Show ATGGAAGTGTGTCCGTGGTGTGTGTGGAGGTATATGTGTGTGTGCTGTGC ATATGTGTATGTCTGTGGTGTGTATGTGTGTGTGGTGTGCTTATGTGTAT GTGTATGGTGTGTGTGTGGTATGTGTATGTGTGTGGTGTATGTGTGTGGT GCATGTGTGTGGTTTGTGTCTGTGTGTGTGGCGTGTATGTGTATGTGTGT GGTGTGTTTGTGGTATGTGTGTATGTGTATGGTGTGTATGTGTATGTGTG TGGTGTGTCTGTGTGGTGTGTATGTGTGTGGTGTGTATGTGTGTGGTGTG TATGTGTGTGTGGTATGTGTGTACGTGTGGTGTGTATGTGTGTGGTGTGT GTGGTATGTGTGTGTTGTGTGGTGTGTGTGTATGTGTGTGGTGTGTGTGT AGTATCTGTGTATGTGTGGTGTGGTGTGTGGTATGTGTGTAGTGTGTTTA TGTATGTGTGGGGTG	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	240	0.0042	464	c.310 others(483): Show c.310-18088_310-18087insCACCCCACACATACATAAACACACTA CACACATACCACACACCACACCACACATACACAGATACTACACACACACC ACACACATACACACACACCACACAACACACACATACCACACACACCACAC ACATACACACCACACGTACACACATACCACACACACATACACACCACACA CATACACACCACACACATACACACCACACAGACACACCACACACATACAC ATACACACCATACACATACACACATACCACAAACACACCACACACATACA CATACACGCCACACACACAGACACAAACCACACACATGCACCACACACAT ACACCACACACATACACATACCACACACACACCATACACATACACATAAG CACACCACACACACATACACACCACAGACATACACATATGCACAGCACAC ACACATATACCTCCACACACACCACGGACACACTTCCA	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6			chr9	TogoVar
GNA14_chr9_77418079_77653322	77452609	A A	ATGGAAGT others(457): Show ATGGAAGTGTGTCCGTGGTGTGTGTGGAGGTATATGTGTGTGTGCTGTGC ATATGTGTATGTCTGTGGTGTGTATGTGTGTGTGGTGTGCTTATGTGTAT GTGTATGGTGTGTGTGTGGTGTGTGTATGTGTGTGGTGTATGTGTGTGGT GCATGTGTGTGGTTTGTGTCTGTGTGTGTGGCGTGTATGTGTATGTGTGT GGTGTGTTTGTGGTATGTGTGTATGTGTATGGTGTGTATGTGTATGTGTG TGGTGTGTCTGTGTGGTGTGTATGTGTGTGGTGTGTATGTGTGTGGTGTG TATGTGTGTGTGGTATGTGTGTACGTGTGGTGTGTATGTGTGTGGTGTGT GTGGTATGTGTGTGTTGTGTGGTGTGTGTGTATGTGTGTGGTGTGTGTGT AGTATCTGTGTATGTGTGGTGTGGTGTGTGGTATGTGTGTAGTGTGTTTA TGTATGTGTGGGGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02723.hp2 others(3): Show HG01884.hp2 HG02280.hp2 HG02723.hp2 HG02922.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0007t0006	a0001c0001t0002g0220 a0001c0001t0006g0024 a0001c0001t0006g0129 others(3): Show a0001c0001t0002g0220 a0001c0001t0006g0024 a0001c0001t0006g0129 a0001c0001t0014g0225 a0001c0007t0006g0001 a0001c0007t0006g0020	6	240	0.0250	464	c.310 others(483): Show c.310-18088_310-18087insCACCCCACACATACATAAACACACTA CACACATACCACACACCACACCACACATACACAGATACTACACACACACC ACACACATACACACACACCACACAACACACACATACCACACACACCACAC ACATACACACCACACGTACACACATACCACACACACATACACACCACACA CATACACACCACACACATACACACCACACAGACACACCACACACATACAC ATACACACCATACACATACACACATACCACAAACACACCACACACATACA CATACACGCCACACACACAGACACAAACCACACACATGCACCACACACAT ACACCACACACATACACACACCACACACACACCATACACATACACATAAG CACACCACACACACATACACACCACAGACATACACATATGCACAGCACAC ACACATATACCTCCACACACACCACGGACACACTTCCA	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6			chr9	TogoVar
GPBP1_chr5_57169059_57269673	57249833	T T	TCCCCTTC others(457): Show TCCCCTTCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCC CTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCTTCCCCCTCCC CTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCT TGCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCC TCACCTTCCCCTCCTTCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCAT CCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCC CCCTCCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCC CTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCC CTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCC CCTCCTTCCCCCTTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0261 a0001c0001t0003g0261	1	290	0.0035	464	c.972 others(479): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCT TCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCC CTCCCCTCCTTGCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTA CCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTCCCCTCCTTCC CCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTC CCCACCTTCCCCCTCCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCC CTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCT TCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCC TTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(457): Show TATATATTAATATATATTTATATTTATTTATTAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATA TATAAATATATATTTATATTTATTTATAAATATATATTTATATTTATTTA TATATAAATATATATAAATCTATATTTATAGTTATTTATATATAAATATA TAAATCTATATATATAAATATAGATTTATATATATTTATATATAAATAAC TATAAATATAGATTTATATATTTATATATAAATAACTATAAATATAGATT TATATATATTTATATATAAATAACTATATAGATTTATATATATTTATATA TAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATT TATAAATAACTATAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	208	0.0048	464	c.-97 others(481): Show c.-97-2095_-97-2094insTTAATATATATTTATATTTATTTATTAA TAAATATATATAAATATATATAAATATATATTTATATTTATTTATAAATA AATATATATAAATATATATAAATATATATTTATATTTATTTATAAATATA TATTTATATTTATTTATATATAAATATATATAAATCTATATTTATAGTTA TTTATATATAAATATATAAATCTATATATATAAATATAGATTTATATATA TTTATATATAAATAACTATAAATATAGATTTATATATTTATATATAAATA ACTATAAATATAGATTTATATATATTTATATATAAATAACTATATAGATT TATATATATTTATATATAAATAACTATATAGATTTATATATATTTATATA TAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATAGA TTTATATATATTTATTTATAAATAACTATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRAMD1B_chr11_123425269_123632767	123584374	T T	TGGGAGGG others(457): Show TGGGAGGGGGAATGGAGGTTGGGGGGAAAGGGTGTGGGGTGCGGTTGGGG GAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAG GGGGAATGGAGGTTGGGGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATG GAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGG TTGGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTG GGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGG GAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAG GGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGT GTGGGGTGCGGTTGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0208 a0001c0001t0060g0208	1	282	0.0036	464	c.684 others(477): Show c.684+66_684+67insGAAAGGGTGTGGGGTGCGGTTGGGGGAGGGGG AATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAAT GGAGGTTGGGGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAG GTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTG GGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGG GAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAG GGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGG TGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTG GGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGT GCGGTTGGGGGAGGGGGAATGGAGGTTGGGGG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GREB1_chr2_11529045_11647788	11618136	C C	CACTCCTG others(457): Show CACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACT CCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCC TGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTG GGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGG ACGAGTCGCCCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGAT GGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAG GTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGT GACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0022 a0022	a0022c0086 a0022c0086	a0022c0086t0008 a0022c0086t0008	a0022c0086t0008g0256 a0022c0086t0008g0256	1	308	0.0033	464	c.341 others(479): Show c.3413-41_3413-40insCACTCCTGGGATGGGTGACTCCTGGGACAG GTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGT GACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGACGAGTCGCCCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCC TGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTG GGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGG ACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGAT GGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAG GTCACTCCTGGGATGGGTGACTCCTGGGACAGGT	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	21/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRIN3A_chr9_101564352_101743647	101659358	T T	TGTATCTA others(457): Show TGTATCTATGTATTTATTTATACATAGAAAGTATCTATGTATTTATTTAT ACATAGAAAGTATCTATGTATTTATTTATACATAGAAAGTATCTATGTAT TTATTTATACATAGAAAGTATCTATGTATTTATTTATACATAGAAAGTAT CTATGTATTTATTTATACATAGAAAGTATCTATGTATTTATTTATACATA GAAAGTATCTATGTATTTATTTATACATAGAAAGTATCTATGTATTTATT TATACATAGAAAGTATCTATGTATTTATTTATACATAGAAAGTATCTATG TATTTATTTATACATAGAAAGTATCTATGTATTTATTTATACATAGAAAG TATCTATGTATTTATTTATACATAGAAAGTATCTATGTATTTATTTATAC ATAGAAAGTATCTATGTATTTATTTATACATAGAAAGTATCTATGTATTT ATTTATACATAGAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02886.hp2 HG01070.hp2 HG01071.hp2 HG02886.hp2	a0001 a0002 a0001 a0002	a0001c0024 a0002c0005 a0001c0024 a0002c0005	a0001c0024t0017 a0002c0005t0044 a0001c0024t0017 a0002c0005t0044	a0001c0024t0017g0047 a0001c0024t0017g0048 a0002c0005t0044g0276 a0001c0024t0017g0047 a0001c0024t0017g0048 a0002c0005t0044g0276	3	324	0.0093	464	c.235 others(485): Show c.2352+10701_2352+10702insTTTCTATGTATAAATAAATACATA GATACTTTCTATGTATAAATAAATACATAGATACTTTCTATGTATAAATA AATACATAGATACTTTCTATGTATAAATAAATACATAGATACTTTCTATG TATAAATAAATACATAGATACTTTCTATGTATAAATAAATACATAGATAC TTTCTATGTATAAATAAATACATAGATACTTTCTATGTATAAATAAATAC ATAGATACTTTCTATGTATAAATAAATACATAGATACTTTCTATGTATAA ATAAATACATAGATACTTTCTATGTATAAATAAATACATAGATACTTTCT ATGTATAAATAAATACATAGATACTTTCTATGTATAAATAAATACATAGA TACTTTCTATGTATAAATAAATACATAGATACTTTCTATGTATAAATAAA TACATAGATACTTTCTATGTATAAATAAATACATAGATAC	GRIN3A	ENSG00000198785.7	transcript	ENST00000361820.6	protein_coding	3/8			chr9	TogoVar
GUCY1A2_chr11_106669019_107023476	106709971	A A	ACATGTAT others(457): Show ACATGTATATAACATAGTTATATATTATATACATGTATATAACATAGTTA TATATTATATACATGTATATAACATAGTTATATATTATATACATGTATAT AACATATAGTTATATATTATATACATGTATATAACATATAGTTATATATT ATATACATGTATATAACATATAGTTATATATTATATACATGTATATAACA TATAGTTATATATTATATACATGTATATAACATATAGTTATATATTATAT ACATGTATATAACATATAGTTATATATTATATACATGTATATAACATAGT TATATATTATATACATGTATATAACATATAGTTATATATTATATACATGT ATATAACATATAGTTATATATTATATACATGTATATAACATATAGTTATA TATTATATACATGTATATAACATATAGTTATATATTATATACATGTATAT AACATATAGTTATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0168 a0001c0005t0009g0168	1	256	0.0039	464	c.183 others(483): Show c.1837-1306_1837-1305insATATAACTATATGTTATATACATGTA TATAATATATAACTATATGTTATATACATGTATATAATATATAACTATAT GTTATATACATGTATATAATATATAACTATATGTTATATACATGTATATA ATATATAACTATATGTTATATACATGTATATAATATATAACTATGTTATA TACATGTATATAATATATAACTATATGTTATATACATGTATATAATATAT AACTATATGTTATATACATGTATATAATATATAACTATATGTTATATACA TGTATATAATATATAACTATATGTTATATACATGTATATAATATATAACT ATATGTTATATACATGTATATAATATATAACTATATGTTATATACATGTA TATAATATATAACTATGTTATATACATGTATATAATATATAACTATGTTA TATACATGTATATAATATATAACTATGTTATATACATG	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
INPP5A_chr10_132532787_132788480	132622284	A A	ACTGACGT others(457): Show ACTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGAC TCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGAT TGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGT TCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATA TACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTT GAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGT TAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGC TGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTC AGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTG GAAGACTCAGTTACG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18973.hp1 NA18945.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0043 a0001c0001t0001g0044	2	204	0.0098	464	c.117 others(483): Show c.117+14333_117+14334insGTGTTAGAACTTGAGAAATATACCGC GTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAA TATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAAC TTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGT GTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTAC GCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGAC TCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGAT TGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGT TCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATA TACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGAC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132622290	A A	ATGTTAGA others(457): Show ATGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTT ACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAG ACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGG ATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGC GTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAA TATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAAC TTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGT GTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTAC GCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGAC TCAGTTACGCTGACG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01109.hp2 HG03579.hp1 others(1): Show HG00673.hp1 HG01109.hp2 HG03579.hp1 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0010 a0001c0005t0002 a0002c0002t0001 a0001c0001t0010 a0001c0005t0002 a0002c0002t0001	a0001c0001t0010g0047 a0001c0001t0010g0048 a0001c0005t0002g0040 others(1): Show a0001c0001t0010g0047 a0001c0001t0010g0048 a0001c0005t0002g0040 a0002c0002t0001g0136	4	204	0.0196	464	c.117 others(483): Show c.117+14533_117+14996dupCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACG CTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACT CAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132622895	C C	CGTTCGTG others(457): Show CGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAA ATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAA CTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACG TGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG04204.hp2 NA19000.hp2 others(1): Show HG03490.hp1 HG04204.hp2 NA19000.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0014 a0002c0002t0001 a0001c0001t0001 a0001c0001t0014 a0002c0002t0001	a0001c0001t0001g0099 a0001c0001t0014g0078 a0002c0002t0001g0057 others(1): Show a0001c0001t0001g0099 a0001c0001t0014g0078 a0002c0002t0001g0057 a0002c0002t0001g0058	4	204	0.0196	464	c.117 others(483): Show c.117+14996_117+14997insCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACG CTGACGTGTTAGAACTTGAGAAATATACCGTGTTCGTGGATTGGAAGACT CAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
KANK1_chr9_499695_751103	514235	C C	CCTCCCTC others(457): Show CCTCCCTCCCTCCCTCTCTTCCTCCCTCTCTCCCTCCTTCTCTCCCTCCC TCCCTCCCTCCCTCCCTCCCCTCCCTCCCTCTCCTCCCTCTCTCCCTCCC TCTTCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTCCCTCTCTCCCTCCCTCCCTCCCCTCTCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTCCCTCCCCTCCCTCTCTTCCTCCCTCTCTCCCTCCTTCT CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCT CCTCCTCTCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCTCT TCCTCCCTCTCTCCCTCCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT CCTCTCTCCCTCCCT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	254	0.0039	464	c.-84 others(481): Show c.-84+9487_-84+9488insCCCTCCCTCTCTTCCTCCCTCTCTCCCT CCTTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCCTCCCTCCCTCTCCT CCCTCTCTCCCTCCCTCTTCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCC TCCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTCCCTTCCTCCCTCTCTCCCTCCCTCCCTCCCCTCTCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCCTCCCTCTCTTCCTCCC TCTCTCCCTCCTTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTC CCTCCCTCCCTCCCTCCTCCTCTCTCCCTCCCTCCCTCCCTTCCTCCCTC CCTCCCTCCCTCTCTTCCTCCCTCTCTCCCTCCTCTCCCTCCCTCCCTCC CTTCCTTCCTTCCTTCCTCTCTCCCTCCCTCTCCCT	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(457): Show CGCCCCCACAGCCGCCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCACAGCCAC CCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAG CCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCC CACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACC CCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGC CGCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAG CTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0154 a0001c0003t0001g0154	1	312	0.0032	464	c.-41 others(479): Show c.-41+629_-41+630insCCCCACAGCCGCCCCCCCCACAGCCGCCCC CCTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCACAGCCA CCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACA GCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCC CCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAG CCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCA GCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNK2_chr1_215077737_215242090	215209590	T T	TATATAAA others(457): Show TATATAAAATAGATATATATAAAATATATAAAATAGATATTATATATAAA ATATATATAATATATATATAAAATAGATATTATATATAAAATATATATTA TATATTATATAAAATATATATTATATATTATATAATATATAATATATATT ATATATATTATATATTATATATTAAATATATATTATATATATAAAATATA TATAAAATATATATTATATAAAATATATATAAAATATATATTATATAAAA TATATATAAAATATATATTATATAAAATATATATAAAATATATATTATAT AAAATATATATTATATATAAAATATATAATATATATAAAATATATACTAT ATATAAAATATATACTATATATAAAATATATACTATATATAAAATATATA CTATATATAAAATATATACTATATATAAAATATATATTATATATAAAATA TATACTATATATAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	260	0.0039	464	c.963 others(483): Show c.963+14503_963+14504insAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATAAAATATATATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATAAAATATATATTATATAAAATATAT ATAAAATATATATTATATAAAATATATATTATATATAAAATATATAATAT ATATAAAATATATACTATATATAAAATATATACTATATATAAAATATATA CTATATATAAAATATATACTATATATAAAATATATACTATATATAAAATA TATATTATATATAAAATATATACTATATATAAAATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TACACAAG others(457): Show TACACAAGAGGATATATATATATACACACAAGAGGATATATATATGTACA CACAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATA TCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATATATATATATATCCAAGAGGATATATATATATATATATATATCCA AGAGGATATATATATATATATATATATCCAAGAGGATATATATATATATA TATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	232	0.0043	464	c.-67 others(483): Show c.-67-49303_-67-49302insCACAAGAGGATATATATATATACACA CAAGAGGATATATATATGTACACACAAGAGGATATATATATATATATATC CAAGAGGATATATATATATATATCCAAGAGGATATATATATATATATATA TCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATA TATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGA TATATATATATATATATATATCCAAGAGGATATATATATATATATATATA TCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATA TATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGGATATATATATATATATATATATCCAAGAGGA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIAA0930_chr22_45187244_45245894	45228892	T T	TCCCCCCC others(457): Show TCCCCCCCCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACTC ACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATC CCTCTCCACCCCCACACCACCAAACACTCACCCGAAAGATCCCTCTCCAC CCCCCCACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCAACC ACCAAACACTCACCCGAGAGATCCCTCTCCACCCCCCAACCACCAAACAC TCACCTGAGAGATCCCTCTCCACCCCCCCACCACCAAACACTCACCCGAA AGATCCCTCTCCACCCCCCCACCACCAAACACTCACCCGAAAGATCCCTC TCCACCCCCCAACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCACCA CCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTCACCCGAA AGATCCCTCCCCATC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0359 a0001c0001t0004g0359	1	398	0.0025	464	c.64+ others(481): Show c.64+11747_64+11748insGATGGGGAGGGATCTTTCGGGTGAGTGG TGGTTGGGGGGTGAAGAGGGATCTTTCGGGTGAGTGGTGGTGGCGGGGGT GGAGAGGGATCTCTCAGGTGAGTGGTTGGGGGGTGGAGAGGGATCTTTCG GGTGAGTGTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGT TTGGTGGTGGGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTT GGGGGGTGGAGAGGGATCTCTCGGGTGAGTGTTTGGTGGTTGGGGGGTGG AGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGTGGAGAGGGATC TTTCGGGTGAGTGTTTGGTGGTGTGGGGGTGGAGAGGGATCTTTCGGGTG AGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGGGG GTGGAGAGGGATCTTTCGGGTGAGTGGTGGGGGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KRT75_chr12_52419070_52439371	52438187	G G	GAGTGTGG others(457): Show GAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTGTGG AGAAGATAATTCTGTTGTGGACACTCCAGGGACTGAGTGTGGAGAAGGTA ATTCTGTTGTGGACACTCCAGGGACCGAGTGTGGAGAAGGTAATTCTGTT GTGGACACTCCCAGGGGCCGAGTGTGGAGAAGGTAATTCTGTTGTGGACA CTCCAGGGGCCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAGGG GCCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCCAGGGGCCGAGT GTGGAGAAGGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTGTGGAGAA GGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTGTGGAGAAGATAATTC TGTTGTGGACACTCCAGGGACCGAGTGTGGAGAAGGTAATTCTGTTGTGG ACACTCCAGGGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01123.hp2 HG01168.hp2 others(2): Show HG00642.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG02735.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0003 a0003c0003t0003g0005 a0003c0003t0003g0034 a0003c0003t0003g0003 a0003c0003t0003g0005 a0003c0003t0003g0034	5	416	0.0120	464	c.-38 others(475): Show c.-3884_-3883insTGGCCCCTGGAGTGTCCACAACAGAATTACCTTC TCCACACTCGGTCCCTGGAGTGTCCACAACAGAATTATCTTCTCCACACT CGGCCCCTGGAGTGTCCACAACAGAATTACCTTCTCCACACTCGGCCCCT GGAGTGTCCACAACAGAATTACCTTCTCCACACTCGGCCCCTGGGAGTGT CCACAACAGAATTACCTTCTCCACACTCGGCCCCTGGAGTGTCCACAACA GAATTACCTTCTCCACACTCGGCCCCTGGAGTGTCCACAACAGAATTACC TTCTCCACACTCGGCCCCTGGGAGTGTCCACAACAGAATTACCTTCTCCA CACTCGGTCCCTGGAGTGTCCACAACAGAATTACCTTCTCCACACTCAGT CCCTGGAGTGTCCACAACAGAATTATCTTCTCCACACTCGGCCCCTGGAG TGTCCACAACAGAATTACCTTCTCCACACT	KRT75	ENSG00000170454.6	transcript	ENST00000252245.6	protein_coding		3817		chr12	TogoVar
LAMA5_chr20_62304065_62372312	62360489	T T	TGGGTGGA others(457): Show TGGGTGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTGGGTG GGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGTGGG TGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGATGGGTGGGTGGAGG GATAGATGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGG TGGGTGGGTGGAGGGATAGATGGGTGGGTGGAGGGATAGATGGGTGGTGG GTGGGTGGAGGGATAGATGGGTGGATGGGTGGGTAGAAGGATAGGTAGGT GGGTGGGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGGATAGATGG GTGGGTGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGAGGAATAGAT GGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGG GTGGATGGATAGGTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01257.hp2 HG01192.hp1 HG01257.hp2	a0042 a0047 a0042 a0047	a0042c0134 a0047c0129 a0042c0134 a0047c0129	a0042c0134t0001 a0047c0129t0001 a0042c0134t0001 a0047c0129t0001	a0042c0134t0001g0081 a0047c0129t0001g0071 a0042c0134t0001g0081 a0047c0129t0001g0071	2	186	0.0108	464	c.450 others(481): Show c.450+1910_450+1911insCACCTATCCATCCACCCACCCACCCACC CACCCATCTATCCCTCCACCCACCCATCCACCCACCCATCTATTCCTCCA CCCACCCACCCATCTATCCCTCCACCCACCCACCCACCCATCTATCCCTC CACCCACCCATCCACCTATCCATCCACCCACCCACCCACCTACCTATCCT TCTACCCACCCATCCACCCATCTATCCCTCCACCCACCCACCACCCATCT ATCCCTCCACCCACCCATCTATCCCTCCACCCACCCACCCACCCACCCAT CTATCCCTCCACCCACCCATCCACCCACCCATCTATCCCTCCACCCACCC ATCCACCCACCCATCTATCCCTCCACCCACCCATCCACCCACCCATCTAT TCCTCCACCCACCCACCCACCTATCCATCCACCCACCCACCCACCTACCT ATCCTTCTACCCACCCACCCATCTATCCCTCCACCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LHPP_chr10_124456823_124619141	124507525	G G	GTGGAGGG others(457): Show GTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG TGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGG GGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGG GGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGG GGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGATGTGGAGG GTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGG TAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTA GGGAGGATTTCAGGT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	260	0.0039	464	c.624 others(481): Show c.624+9397_624+9398insTGGAGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGAGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAG GGAGGATTTCAGATGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124507824	G G	GGGGTAGG others(457): Show GGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTCGGT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	260	0.0039	464	c.625 others(481): Show c.625-9356_625-9355insGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364456	C C	CACACCCA others(457): Show CACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACA CTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCA CACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACC CACACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCA CGCTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACG CTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCA CGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACC CACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACA CCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTA CACCCACCCACACTT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	290	0.0035	464	c.129 others(481): Show c.1290-944_1290-943insGCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACGC TTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACGCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCAC GCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACCCACACTTACACCCACCCACACTTACACCCAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(457): Show ATATAATTTATATAAATATATAAATATAATTTATAGAAATATAATTTATA TAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT AGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATT TATATAAATGTATAACTATAATTTATAGAAATATAATTTATATAAATATA TAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTT ATATAAATATATAAC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0098 a0098	a0098c0023 a0098c0023	a0098c0023t0001 a0098c0023t0001	a0098c0023t0001g0045 a0098c0023t0001g0045	1	152	0.0066	464	c.342 others(483): Show c.3420-8498_3420-8497insAAATATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATA ATTTATATAAATGTATAACTATAATTTATAGAAATATAATTTATATAAAT ATATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAA TTTATATAAATATATAACTATAATTTATATAAATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(457): Show ATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATA TAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT AGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATT TATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATA TAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTT ATATAAATATATAAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0002 a0003c0020t0002	a0003c0020t0002g0086 a0003c0020t0002g0086	1	152	0.0066	464	c.342 others(483): Show c.3420-8498_3420-8497insAACTATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATA ATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAAT ATATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAA TTTATATAAATATATAACTATAATTTATATAAATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(457): Show ATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATA TAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT AGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATT TATATAAATGTATAACTATAATTTATAGAAATATAATTTATATAAATATA TAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTT ATATAAATATATAAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp2 HG03491.hp1 others(1): Show HG01109.hp1 HG01168.hp2 HG03491.hp1 NA20129.hp2	a0001 a0020 a0037 others(1): Show a0001 a0020 a0037 a0038	a0001c0001 a0020c0072 a0037c0106 others(1): Show a0001c0001 a0020c0072 a0037c0106 a0038c0107	a0001c0001t0001 a0020c0072t0002 a0037c0106t0001 others(1): Show a0001c0001t0001 a0020c0072t0002 a0037c0106t0001 a0038c0107t0002	a0001c0001t0001g0054 a0020c0072t0002g0082 a0037c0106t0001g0047 others(1): Show a0001c0001t0001g0054 a0020c0072t0002g0082 a0037c0106t0001g0047 a0038c0107t0002g0020	4	152	0.0263	464	c.342 others(483): Show c.3420-8498_3420-8497insAACTATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATA ATTTATATAAATGTATAACTATAATTTATAGAAATATAATTTATATAAAT ATATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAA TTTATATAAATATATAACTATAATTTATATAAATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MBD3L3_chr19_7051207_7063676	7061838	T T	TATAATAT others(457): Show TATAATATATAATTATATTCTATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTCTATATTAT ATAATTATAATATAATTATATAATATAATTATATTGTATATAATTATAAT AAATATATTATATAATATATAATTATATTATATATTATATAATATATAAT TATATTATATATTATATAATATATAATTATATTATATATTATATAATATA TAATTATATTATATATTATAATACATTTAATATAATTATATTATAGATTA TAATTCTATAATATAATTATATTAATAGTATTATAATATATAATATATTA TATATAATTATATTATAACATATTATATATAATTATATTATAGATCATAA TCTATAATATACTTATATATAATATGTTATAATATATAATTATATTCTAT ATATAATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	288	0.0035	464	c.-32 others(475): Show c.-3234_-3233insTATATATAATTATATATAGAATATAATTATATAT TATAACATATTATATATAAGTATATTATAGATTATGATCTATAATATAAT TATATATAATATGTTATAATATAATTATATATAATATATTATATATTATA ATACTATTAATATAATTATATTATAGAATTATAATCTATAATATAATTAT ATTAAATGTATTATAATATATAATATAATTATATATTATATAATATATAA TATAATTATATATTATATAATATATAATATAATTATATATTATATAATAT ATAATATAATTATATATTATATAATATATTTATTATAATTATATACAATA TAATTATATTATATAATTATATTATAATTATATAATATAGAATATAATTA TATATTATATAATTATATTCTATATAGAATATAATTATATATTATATAAT TATATTATATAGAATATAATTATATATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3163		chr19	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(457): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAG AAGAGTGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGG CGGAGCAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGA AAAGAGGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGA GGAGGAGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGA AAGGAGGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGG GGAGAGGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGA AGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	280	0.0036	464	c.641 others(479): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCC TCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTT TCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(457): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGATGGGG AGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGG GGAGTGTGGTTGATG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0118 a0001c0001t0008g0118	1	360	0.0028	464	c.57+ others(481): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGG GGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGG TGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTG ATGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTT GGTGGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSR1_chr8_16102881_16197651	16189584	A A	ATATACAT others(457): Show ATATACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTAT TTTATATATATTTTATATACATAAAATCTTATTTTATATATATTTTATAT ACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTATTTTA TATATATTTTATATACATAAAATCTTATTTTATATATATTTTATATACAT AAAATCTTATTTTATATATATTTTATATACATAAAATCTTATTTTATATA TATTTTATACATAAAATCTTATTTTATATATATTTTATATATAAAATCTT ATTTTATATATATTTTATATATAAAATCTTATTTTATATATATTTTATAT ATATTTTATATATATAAAATCTTTATATATATTTTATATATATAAAATCT TTATATATATTTTATATATATAAAATCTTACTTTATATATATTTTATATA TATAAAATCTTACTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0002 a0006c0008t0001 a0006c0008t0002	a0006c0008t0001g0013 a0006c0008t0002g0014 a0006c0008t0001g0013 a0006c0008t0002g0014	2	330	0.0061	464	c.-5+ others(479): Show c.-5+3013_-5+3014insAAGTAAGATTTTATATATATAAAATATATA TAAAGTAAGATTTTATATATATAAAATATATATAAAGATTTTATATATAT AAAATATATATAAAGATTTTATATATATAAAATATATATAAAATATATAT AAAATAAGATTTTATATATAAAATATATATAAAATAAGATTTTATATATA AAATATATATAAAATAAGATTTTATGTATAAAATATATATAAAATAAGAT TTTATGTATATAAAATATATATAAAATAAGATTTTATGTATATAAAATAT ATATAAAATAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTA TGTATATAAAATATATATAAAATAAGATTTTATGTATATAAAATATATAT AAAATAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTATGTA TATAAAATATATATAAAATAAGATTTTATGTATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189584	A A	ATATATAT others(457): Show ATATATATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTAT TTTATATATATTTTATATACATAAAATCTTATTTTATATATATTTTATAT ACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTATTTTA TATATATTTTATATACATAAAATCTTATTTTATATATATTTTATATACAT AAAATCTTATTTTATATATATTTTATATACATAAAATCTTATTTTATATA TATTTTATACATAAAATCTTATTTTATATATATTTTATATATAAAATCTT ATTTTATATATATTTTATATATAAAATCTTATTTTATATATATTTTATAT ATATTTTATATATATAAAATCTTTATATATATTTTATATATATAAAATCT TTATATATATTTTATATATATAAAATCTTACTTTATATATATTTTATATA TATAAAATCTTACTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02155.hp1 HG02129.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0041 a0001c0001t0002g0011 a0001c0001t0001g0041 a0001c0001t0002g0011	2	330	0.0061	464	c.-5+ others(479): Show c.-5+3013_-5+3014insAAGTAAGATTTTATATATATAAAATATATA TAAAGTAAGATTTTATATATATAAAATATATATAAAGATTTTATATATAT AAAATATATATAAAGATTTTATATATATAAAATATATATAAAATATATAT AAAATAAGATTTTATATATAAAATATATATAAAATAAGATTTTATATATA AAATATATATAAAATAAGATTTTATGTATAAAATATATATAAAATAAGAT TTTATGTATATAAAATATATATAAAATAAGATTTTATGTATATAAAATAT ATATAAAATAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTA TGTATATAAAATATATATAAAATAAGATTTTATGTATATAAAATATATAT AAAATAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTATGTA TATAAAATATATATAAAATAAGATTTTATATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ACATATAT others(457): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0046 a0004c0004t0001g0046	1	364	0.0028	464	c.394 others(479): Show c.394-653_394-652insGTTCATATATATATTCATATATATATGTTC ATGTATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(457): Show GTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGT GGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGT GGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGG TGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG ATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0186 a0001c0001t0003g0186	1	384	0.0026	464	c.160 others(481): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACC ACCACTACTGCCACCGCCGCCACCATCACCACCACCACCACCACCACCAC CACCACTACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATC ACCACCACCACCATCACCACCACCACCATCACCACCACCACCACTACTGC CACCGCCGCCACCATCACCACCACCACCATCGCCGCCACCACCACCACCA CCACCATCACCACCATCACCACCATCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
NBDY_chrX_56724243_56824179	56725501	G G	GTAACAAT others(457): Show GTAACAATATTGTTATATTGTTATATATACATATAACAATATTGTTATAT TGTTATATATACATATAACAATATTGTTATATTGTTATATATACATATAA CAATATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTT ATATATACATATAACAATATTGTTATATTGTTATATATACATATAACAAT ATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATAT ATACATATAACAATATTGTTATATTGTTATATATACATATAACAATATTG TTATATTGTTATATATACATATAACAATATTGTTATATATACATATAACA ATATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTAT ATATACATATAACAATATTGTTATATTGTTATATATACATATAACAATAT TGTTATATATACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	160	0.0063	464	c.-38 others(475): Show c.-3853_-3852insTAACAATATTGTTATATTGTTATATATACATATA ACAATATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGT TATATATACATATAACAATATTGTTATATTGTTATATATACATATAACAA TATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATA TATACATATAACAATATTGTTATATTGTTATATATACATATAACAATATT GTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATATATA CATATAACAATATTGTTATATTGTTATATATACATATAACAATATTGTTA TATATACATATAACAATATTGTTATATTGTTATATATACATATAACAATA TTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATATA TACATATAACAATATTGTTATATATACATA	NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding		3741		chrX	TogoVar
NCOR2_chr12_124319415_124572612	124438780	G G	GAGAGAGA others(457): Show GAGAGAGAGAGAGAGAGAGAGAGACGGAGACCCAGAGAGACAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACGGAGACCCAGAGA GAGGGAGACAGAGACCCAGAGACAGAGGGAGACAGAGACCCAGAGACAGA GGAAGACAGAGACCCAGAGAGAGGGAGACAGAGACCCAGAGAGAGAGAGA CGGAGACCCAGAGACAGAGGGAGAGAGAGACCCAGAGACAGAGGGAGACA GAGACCCAGAGAGAGAGAGATGGAGACCCTGAGACAGAGGGAGACAGAGA CCCAGAGAGAGAAACAGAGACCCAGAGACAGAGGGAGAGACAGAGACCCA GAGACAGAGACCCAGAGAGACAGGGAAACAGAGAACCAGAGAGAGAGAGA CAGAGACCCAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACA GAGACCCAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0102 a0001c0102	a0001c0102t0002 a0001c0102t0002	a0001c0102t0002g0102 a0001c0102t0002g0102	1	234	0.0043	464	c.816 others(479): Show c.816-785_816-784insGTCTCTCTGGGTCTCTGTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTGTCTCTCTGGGTCTCTGTCTCTCTCTCTCTGG TTCTCTGTTTCCCTGTCTCTCTGGGTCTCTGTCTCTGGGTCTCTGTCTCT CCCTCTGTCTCTGGGTCTCTGTTTCTCTCTCTGGGTCTCTGTCTCCCTCT GTCTCAGGGTCTCCATCTCTCTCTCTCTGGGTCTCTGTCTCCCTCTGTCT CTGGGTCTCTCTCTCCCTCTGTCTCTGGGTCTCCGTCTCTCTCTCTCTGG GTCTCTGTCTCCCTCTCTCTGGGTCTCTGTCTTCCTCTGTCTCTGGGTCT CTGTCTCCCTCTGTCTCTGGGTCTCTGTCTCCCTCTCTCTGGGTCTCCGT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCT CTGGGTCTCCGTCTCTCTCTCTCTCTCTCTCTCT	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	9/48			chr12	TogoVar
NEU4_chr2_241804193_241822413	241807934	C C	CTCCCCCC others(457): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACTCTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGAACCTCTGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGAACCTCTGCAGGCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGTAC CTCCGCAGGCCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0108 a0002c0003t0002g0108	1	319	0.0031	464	c.-13 others(475): Show c.-1344_-1343insTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACT CTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGG AACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGAACCTCTGCAGGCCTCCCTCCCTCCCCCCTCAA CCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGT CTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAACCCAGGTACCTCCGCAGGCCACCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1258		chr2	TogoVar
NFILZ_chr19_8625633_8686151	8663415	G G	GTGGGGAA others(457): Show GTGGGGAAGGTGGAGGGGGAGCTGGTGGTGGGGAGGGGTGGAACTGCCAT GAACTGAGATGGGGAAGGTGGAGGGGACGCTGGTGGTGGGGAGGGGTGGA ACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGGCGCTGGTGGTGGGGA GGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGGAGCTGGT GGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGG ACGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGG TGGAGGGGGAGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGAT GGGGAAGGTGGAGGGGACGCTGGTGGTGGGGAGGGGTGGAACTGCCATGA ACTGAGATGGGGAAGGTGGAGGGGGCGCTGGTGGTGGGGAGGGGTGGAAC TGCCATGAACTGAGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0120 a0001c0001t0032g0120	1	366	0.0027	464	c.-16 others(485): Show c.-163-10991_-163-10990insGGGAGGGGTGGAACTGCCATGAAC TGAGATGGGGAAGGTGGAGGGGGAGCTGGTGGTGGGGAGGGGTGGAACTG CCATGAACTGAGATGGGGAAGGTGGAGGGGACGCTGGTGGTGGGGAGGGG TGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGGAGCTGGTGGTG GGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGACGC TGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGA GGGGGCGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGG AAGGTGGAGGGGGAGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTG AGATGGGGAAGGTGGAGGGGACGCTGGTGGTGGGGAGGGGTGGAACTGCC ATGAACTGAGATGGGGAAGGTGGAGGGGGCGCTGGTGGTG	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8663434	A A	AGCTGGTG others(457): Show AGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGT GGAGGGGACGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATG GGGAAGGTGGAGGGGGCGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAA CTGAGATGGGGAAGGTGGAGGGGGAGCTGGTGGTGGGGAGGGGTGGAACT GCCATGAACTGAGATGGGGAAGGTGGAGGGGACGCTGGTGGTGGGGAGGG GTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGGCGCTGGTGGT GGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGGCG CTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGG AGGGGACGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGG GAAGGTGGAGGGGGC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02015.hp1 HG00673.hp2 HG02015.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0072 a0001c0001t0001 a0003c0003t0072	a0001c0001t0001g0192 a0003c0003t0072g0131 a0001c0001t0001g0192 a0003c0003t0072g0131	2	366	0.0055	464	c.-16 others(485): Show c.-163-10991_-163-10990insGGGAGGGGTGGAACTGCCATGAAC TGAGATGGGGAAGGTGGAGGGGGAGCTGGTGGTGGGGAGGGGTGGAACTG CCATGAACTGAGATGGGGAAGGTGGAGGGGACGCTGGTGGTGGGGAGGGG TGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGGCGCTGGTGGTG GGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGGCGC TGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGA GGGGACGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGG AAGGTGGAGGGGGCGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTG AGATGGGGAAGGTGGAGGGGACGCTGGTGGTGGGGAGGGGTGGAACTGCC ATGAACTGAGATGGGGAAGGTGGAGGGGGCGCTGGTGGTG	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TAGCCTGT others(457): Show TAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTG GCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGC TAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATG TGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTG TGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTG TGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTG GCTAGCCTGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	464	c.26 others(475): Show c.2689_*2690insAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGT GTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGT GTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGT GCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCT AGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGT GTGTGTGTGTGTCTGGCTAGCCTGGCACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGTGTCTG others(457): Show TGTGTCTGCCTAGCCTGTGTGTGTGTGTCTGCCTAGCCTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTG TCTGGCTAGCCTGGTGCCCGTGTGTGTGTATATGTGTGTGTGTGTGTGTG TGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTG TATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTG TGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTG GCTAGCCTGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03471.hp1 HG01884.hp2 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	2	424	0.0047	464	c.26 others(475): Show c.2689_*2690insGTGTCTGCCTAGCCTGTGTGTGTGTGTCTGCCTA GCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTATATGT GTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGT GCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCT AGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGT GTGTGTGTGTGTCTGGCTAGCCTGGCACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NLRP8_chr19_55942832_55993629	55993508	C C	CCCCCTCC others(457): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTC CCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCTCCCCTCCC CTCCCCCTCCCCTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0012 a0012	a0012c0062 a0012c0062	a0012c0062t0029 a0012c0062t0029	a0012c0062t0029g0312 a0012c0062t0029g0312	1	350	0.0029	464	c.55 others(475): Show c.5595_*5596insCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC CCTCCCTCCCCTCCCCTCCCCCTCCCCTCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCCCCTCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4880		chr19	TogoVar
NOS3_chr7_150986017_151019588	150995593	C C	CCCCCATC others(457): Show CCCCCATCCCACCCCTGCCCCCCCTCCCATCCCACCTCTAAACCCCCTCC TCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCCCTCTAA ACCCCTCCTCCCTGTCCCCCTCTAAACCCCTCCTCCCTGTCCCCCTCTAA ACCCCTCCTCCCTGTCCCCCTCTAAACCCCACCTCCCTGTCCCCCTCTAA ACCCCACCTCCCTGTCCCCCTCTAAACCCCTCCTCCCTGTCCCCCTCTAA ACCCCACCTCCCTCTCCCCATCCCACCCCTGCACCCTTCCTCCCTCTGCC CCCGTCCCACGCCTGTACTCCTCCTCCCTCTCCCCCGTCACACCCCTGCA CCCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCCCTCCTCCCTCTGCC CCCGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCACCCCACCCTTGCA CCCCTCCTCCCTCTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0024 a0024	a0024c0042 a0024c0042	a0024c0042t0001 a0024c0042t0001	a0024c0042t0001g0073 a0024c0042t0001g0073	1	382	0.0026	464	c.270 others(479): Show c.270+283_270+284insATCCCACCCCTGCCCCCCCTCCCATCCCAC CTCTAAACCCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTC CCTGTCCCCCTCTAAACCCCTCCTCCCTGTCCCCCTCTAAACCCCTCCTC CCTGTCCCCCTCTAAACCCCTCCTCCCTGTCCCCCTCTAAACCCCACCTC CCTGTCCCCCTCTAAACCCCACCTCCCTGTCCCCCTCTAAACCCCTCCTC CCTGTCCCCCTCTAAACCCCACCTCCCTCTCCCCATCCCACCCCTGCACC CTTCCTCCCTCTGCCCCCGTCCCACGCCTGTACTCCTCCTCCCTCTCCCC CGTCACACCCCTGCACCCCTCCTCCCTCTCCCCATCCCATCCCTGCACCC CCTCCTCCCTCTGCCCCCGTCCCACCCCTAAACCCCTCCTCCCTCTGCCC CACCCCACCCTTGCACCCCTCCTCCCTCTTCCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXN_chr17_794310_984776	809871	G G	GTGTGAGC others(457): Show GTGTGAGCGGCGGGCACCTTACGAGCCACTGTGAGCGGCGGGCACCTTAC GAGTCCGTGTGAGCGGCGGGCACCTTACGAGTCCGTGTGAGCGGCGGACA CGTTACGAGCCAGTGTGAGTGGCGTGTACGTTACGAGTCTGTGAGTGGCG TGCACGTTAAGAGTCCGTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGA GTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCTGT GAGTGGCGTGCACGTTACGAGTCCGTATGAGCGGCGGGCACCTTACGAGT CCGTGTGAGCGGCGGGCACGTTACGAGCCAGTGTGAGTGGCGTGTACGTT ACGAGTCTGTGAGCGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACG TTAAGAGTCCGTGTGAGTGGCGTGCACGTTACGAGTCCCTGTGAGTGGCG TGCACGTTACGAGTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	242	0.0041	464	c.821 others(481): Show c.821-4625_821-4624insGACTCGTAACGTGCACGCCACTCACAGG GACTCGTAACGTGCACGCCACTCACACGGACTCTTAACGTGCACGCCACT CACAGACTCGTAACGTGCACGCCGCTCACAGACTCGTAACGTACACGCCA CTCACACTGGCTCGTAACGTGCCCGCCGCTCACACGGACTCGTAAGGTGC CCGCCGCTCATACGGACTCGTAACGTGCACGCCACTCACAGACTCGTAAC GTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACACGGACTCG TAACGTGCACGCCACTCACACGGACTCTTAACGTGCACGCCACTCACAGA CTCGTAACGTACACGCCACTCACACTGGCTCGTAACGTGTCCGCCGCTCA CACGGACTCGTAAGGTGCCCGCCGCTCACACGGACTCGTAAGGTGCCCGC CGCTCACAGTGGCTCGTAAGGTGCCCGCCGCTCACA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	809871	G G	GTGTGAGC others(457): Show GTGTGAGCGGCGGGCACCTTACGAGCCACTGTGAGCGGCGGGCACCTTAC GAGTCCGTGTGAGCGGCGGGCACCTTACGAGTCCGTGTGAGCGGCGGGCA CGTTACGAGCCAGTGTGAGTGGCGTGTACGTTACGAGTCTGTGAGTGGCG TGCACGTTAAGAGTCCGTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGA GTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCTGT GAGTGGCGTGCACGTTACGAGTCCGTATGAGCGGCGGGCACCTTACGAGT CCGTGTGAGCGGCGGGCACGTTACGAGCCAGTGTGAGTGGCGTGTACGTT ACGAGTCTGTGAGCGGCGTGCACGTTACGAGTCTGTGAGCGGCGTGCACG TTAAGAGTCCGTGTGAGTGGCGTGCACGTTACGAGTCCCTGTGAGTGGCG TGCACGTTACGAGTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03130.hp1 HG01243.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0222 a0001c0001t0001g0076 a0001c0001t0001g0222	2	242	0.0083	464	c.821 others(481): Show c.821-4625_821-4624insGACTCGTAACGTGCACGCCACTCACAGG GACTCGTAACGTGCACGCCACTCACACGGACTCTTAACGTGCACGCCGCT CACAGACTCGTAACGTGCACGCCGCTCACAGACTCGTAACGTACACGCCA CTCACACTGGCTCGTAACGTGCCCGCCGCTCACACGGACTCGTAAGGTGC CCGCCGCTCATACGGACTCGTAACGTGCACGCCACTCACAGACTCGTAAC GTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACACGGACTCG TAACGTGCACGCCACTCACACGGACTCTTAACGTGCACGCCACTCACAGA CTCGTAACGTACACGCCACTCACACTGGCTCGTAACGTGCCCGCCGCTCA CACGGACTCGTAAGGTGCCCGCCGCTCACACGGACTCGTAAGGTGCCCGC CGCTCACAGTGGCTCGTAAGGTGCCCGCCGCTCACA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	809871	G G	GTGTGAGC others(457): Show GTGTGAGCGGCGGGCACCTTACGAGCCACTGTGAGCGGCGGGCACCTTAC GAGTCCGTGTGAGCGGCGGGCACCTTACGAGTCCGTGTGAGCGGCGGGCA CGTTACGAGCCAGTGTGAGTGGCGTGTACGTTACGAGTCTGTGAGTGGCG TGCACGTTAAGAGTCCGTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGA GTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCTGT GAGTGGCGTGCACGTTACGAGTCCGTATGAGCGGCGGGCACCTTACGAGT CCGTGTGAGCGGCGGGCACGTTACGAGCCAGTGTGAGTGGCGTGTACGTT ACGAGTCTGTGAGCGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACG TTAAGAGTCCGTGTGAGTGGCGTGCACGTTACGAGTCCCTGTGAGTGGCG TGCACGTTACGAGTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00597.hp2 others(51): Show HG00099.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01167.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01928.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02738.hp1 HG03098.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04184.hp1 HG04228.hp2 NA18747.hp2 NA18948.hp2 NA18951.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18984.hp1 NA18999.hp2 NA19000.hp2 NA19010.hp1 NA19012.hp2 NA19066.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0028 a0001c0011t0006	a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0029 others(51): Show a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0045 a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0195 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0002g0026 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0072 a0001c0001t0002g0081 a0001c0001t0002g0112 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0003g0020 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0078 a0001c0001t0003g0084 a0001c0001t0003g0097 a0001c0001t0003g0106 a0001c0001t0003g0117 a0001c0001t0003g0127 a0001c0001t0003g0143 a0001c0001t0003g0153 a0001c0001t0003g0165 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0193 a0001c0001t0003g0205 a0001c0001t0003g0210 a0001c0001t0004g0224 a0001c0001t0005g0032 a0001c0001t0005g0059 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0006g0123 a0001c0001t0006g0144 a0001c0001t0006g0156 a0001c0001t0006g0168 a0001c0001t0006g0184 a0001c0001t0013g0220 a0001c0001t0015g0239 a0001c0001t0015g0240 a0001c0001t0028g0091 a0001c0011t0006g0159	54	242	0.2231	464	c.821 others(481): Show c.821-4625_821-4624insGACTCGTAACGTGCACGCCACTCACAGG GACTCGTAACGTGCACGCCACTCACACGGACTCTTAACGTGCACGCCACT CACAGACTCGTAACGTGCACGCCGCTCACAGACTCGTAACGTACACGCCA CTCACACTGGCTCGTAACGTGCCCGCCGCTCACACGGACTCGTAAGGTGC CCGCCGCTCATACGGACTCGTAACGTGCACGCCACTCACAGACTCGTAAC GTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACACGGACTCG TAACGTGCACGCCACTCACACGGACTCTTAACGTGCACGCCACTCACAGA CTCGTAACGTACACGCCACTCACACTGGCTCGTAACGTGCCCGCCGCTCA CACGGACTCGTAAGGTGCCCGCCGCTCACACGGACTCGTAAGGTGCCCGC CGCTCACAGTGGCTCGTAAGGTGCCCGCCGCTCACA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	809871	G G	GTGTGAGC others(457): Show GTGTGAGCGGCGGGCACCTTACGAGCCACTGTGAGCGGCGGGCACCTTAC GAGTCCGTGTGAGTGGCGGGCACCTTACGAGTCCGTGTGAGCGGCGGGCA CGTTACGAGCCAGTGTGAGTGGCGTGTACGTTACGAGTCTGTGAGTGGCG TGCACGTTAAGAGTCCGTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGA GTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCTGT GAGTGGCGTGCACGTTACGAGTCCGTATGAGCGGCGGGCACCTTACGAGT CCGTGTGAGCGGCGGGCACGTTACGAGCCAGTGTGAGTGGCGTGTACGTT ACGAGTCTGTGAGCGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACG TTAAGAGTCCGTGTGAGTGGCGTGCACGTTACGAGTCCCTGTGAGTGGCG TGCACGTTACGAGTC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	242	0.0041	464	c.821 others(481): Show c.821-4625_821-4624insGACTCGTAACGTGCACGCCACTCACAGG GACTCGTAACGTGCACGCCACTCACACGGACTCTTAACGTGCACGCCACT CACAGACTCGTAACGTGCACGCCGCTCACAGACTCGTAACGTACACGCCA CTCACACTGGCTCGTAACGTGCCCGCCGCTCACACGGACTCGTAAGGTGC CCGCCGCTCATACGGACTCGTAACGTGCACGCCACTCACAGACTCGTAAC GTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACACGGACTCG TAACGTGCACGCCACTCACACGGACTCTTAACGTGCACGCCACTCACAGA CTCGTAACGTACACGCCACTCACACTGGCTCGTAACGTGCCCGCCGCTCA CACGGACTCGTAAGGTGCCCGCCACTCACACGGACTCGTAAGGTGCCCGC CGCTCACAGTGGCTCGTAAGGTGCCCGCCGCTCACA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	841443	T T	TCCTCCCG others(457): Show TCCTCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACC ACGGCGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACAGAGCATCTC ACACGGGCAAGCAGGTCCACCCTGACCACAGCGCATCTCACACCCGCGAG CAGGTCCCCCCGACCACAGAGCATCTCACGCCGGCGAGCAGGTCCCCCCT GACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACAGCGC ATCTCACACCCGCGAGCAGGTCCCCCCTGACCACAGCGCATCTCACACGG GCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTC CTCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCAC AGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATCTCAC GCCGGCGAGCAGGTC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0132 a0001c0001t0005g0132	1	242	0.0041	464	c.361 others(483): Show c.361-15366_361-15365insGACCTGCTCGCCGGCGTGAGATGCTC CATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTCAGGGG GGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGC CCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGAT GCGCTGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTC AGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCT GCTCGCCGGCGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGCGGGTGT GAGATGCGCTGTGGTCAGGGTGGACCTGCTTGCCCGTGTGAGATGCTCTG TGGTCGGGGGGACCTGCTCGCCGGCGTGAGATGCGCCGTGGTCAGGGTGG ACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841591	A A	AGCAGGTC others(457): Show AGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCACAGGCAGGTCCCC CCGACCACAGAGCATCTCACACGGGCAAGCAGGTCCACCCTGACCACGGA GCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACGCC GGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACGCCGGCGAGCAGGT CCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCTCCCGACCA CGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTC ACACGGGCAAGCAGGTCCCCCCGACCATGGAGCATCTCACACGGGCGAGC AGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCCCCCT GACCACGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGC ATCTCACACCCACAG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0145 a0001c0001t0001g0146	2	242	0.0083	464	c.361 others(483): Show c.361-15514_361-15513insCTGTGGGTGTGAGATGCGCCGTGGTC AGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCGTGGTCAGGGGGGACCT GCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTG TGAGATGCTCCATGGTCGGGGGGACCTGCTTGCCCGTGTGAGATGCGCCG TGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGAGG ACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCC GGCGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATG CTCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAG GGTGGACCTGCTTGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCC TGTGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OCA2_chr15_27749875_28104315	28003551	A A	AAAGCCTT others(457): Show AAAGCCTTTCTGCTGTCTATTGTGCACAGGTCTTTCGATGTCGTAGGCTG CTTTTCCATGTTGAAAACAGGAGACGATGGACTGATGTTCTTCTGCGGGC TACTTTGGTAAATGGAAGGATCAATGACGTGCAGAGAGACCCACAGGAAG GAAGAGCAGGGTGTCTTGCAGACCTGTGGGGCCCAGGGCCTGGGTGGCAG CGGCTGGACGGTGTTTCCGCGCGGGCGCGCAGCGCGCTACGTGGACACCA GCAGAGCCGGGAAGGGACAGGTTGAGTCCCTCGGTTTCGCATCACTCTCA GGTCACCTTTCCCCGCTCGGGGCGTAGGCCGGAGCGTGACGCGGTGGAGG GAGCCGGCGGCGCGGGCGGGTTCGTGGGGTGGCCCTGGGAAGGCCCACCT TCAGAGCACCCAGATCGAGGACGCGAGCAGGCTGGGCTAGGGGTGGGACC GCCACCCTCGTGGAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02257.hp1 others(3): Show HG01884.hp1 HG02055.hp2 HG02257.hp1 HG02723.hp2 HG02818.hp1 NA18906.hp2	a0004 a0011 a0012 a0004 a0011 a0012	a0004c0017 a0004c0039 a0004c0040 others(2): Show a0004c0017 a0004c0039 a0004c0040 a0011c0037 a0012c0041	a0004c0017t0001 a0004c0039t0001 a0004c0040t0001 others(2): Show a0004c0017t0001 a0004c0039t0001 a0004c0040t0001 a0011c0037t0001 a0012c0041t0001	a0004c0017t0001g0104 a0004c0017t0001g0109 a0004c0039t0001g0095 others(3): Show a0004c0017t0001g0104 a0004c0017t0001g0109 a0004c0039t0001g0095 a0004c0040t0001g0081 a0011c0037t0001g0080 a0012c0041t0001g0079	6	110	0.0546	464	c.104 others(485): Show c.1044+11224_1044+11225insGTCCACGAGGGTGGCGGTCCCACC CCTAGCCCAGCCTGCTCGCGTCCTCGATCTGGGTGCTCTGAAGGTGGGCC TTCCCAGGGCCACCCCACGAACCCGCCCGCGCCGCCGGCTCCCTCCACCG CGTCACGCTCCGGCCTACGCCCCGAGCGGGGAAAGGTGACCTGAGAGTGA TGCGAAACCGAGGGACTCAACCTGTCCCTTCCCGGCTCTGCTGGTGTCCA CGTAGCGCGCTGCGCGCCCGCGCGGAAACACCGTCCAGCCGCTGCCACCC AGGCCCTGGGCCCCACAGGTCTGCAAGACACCCTGCTCTTCCTTCCTGTG GGTCTCTCTGCACGTCATTGATCCTTCCATTTACCAAAGTAGCCCGCAGA AGAACATCAGTCCATCGTCTCCTGTTTTCAACATGGAAAAGCAGCCTACG ACATCGAAAGACCTGTGCACAATAGACAGCAGAAAGGCTT	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	9/23			chr15	TogoVar

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