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
MLPH_chr2_237482251_237560322	237543527	G G	GGGGACAG others(475): Show GGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTGGAGGGACAGTGGTGA GTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTTGGGGGGACAGT GGTGAGTGGGGGGATGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGT GGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGT GGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGTGTGGGGGGACA GTGGTGAGTTGGGGGGACAGTGGTGAGTGGGGGTACAGTGAGTGGGGACA GTGGTGAGTGGGCACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGAC ATTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGG ACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTG GGGACATTGGTGAGTGGGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0120 a0006c0006t0003g0120	1	268	0.0037	482	c.153 others(499): Show c.1539+871_1539+872insACAGTAATGAGTCGGGGGACAGTGGTGA GTGGAGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTG GTGAGTTGGGGGGACAGTGGTGAGTGGGGGGATGGTGAGTGGGCACGGTG GTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACA GTGGCAAGTGGGCACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGG ACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGGG GTACAGTGAGTGGGGACAGTGGTGAGTGGGCACAGTGGTGAGTGGAGGGG ACAGTGGTGAGTGGGGACATTGGTGAGTGGGGGGACAGTGGTGAGTGGGG ACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTG GGGGGACAGTGGTGAGTGGGGACATTGGTGAGTGGGGGGACAGTGGTGAG TGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH4_chr1_75791882_75918242	75906498	T T	TATATATA others(475): Show TATATATACAATATTATATATATTATATATAATATTATATATATTATATA TAATATATATACAATATTATATATATTATATATAATATTATATATATTAT ATATAATATATATACAATATTATATATATTATATATAATATATATACAAT ATTATATATATTATATATATATACATATATATGTATATATACATATATAA TATGTATATATGTATATATATATGTATAATATATATATTGTATATATATA TTATACATATGTATATATATATTATACATATATATGTATAATATATATAA TGTATATATATATACATATTATATATTATATATAATATATACATATATAT TATATATAATATATACATATTATATATTATATATATAATATATATACATA TTATATTATATATAATATATATACATATTACATATATTATATATAATATA TATACATATATAATATATTATATATTATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02257.hp2 others(4): Show HG01884.hp1 HG02055.hp1 HG02257.hp2 HG02572.hp2 HG02622.hp2 HG03098.hp2 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0134 a0002c0003t0001g0137 a0002c0003t0001g0138 others(4): Show a0002c0003t0001g0134 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0142 a0002c0003t0001g0149	7	207	0.0338	482	c.262 others(501): Show c.2620-6191_2620-6190insCAATATTATATATATTATATATAATA TTATATATATTATATATAATATATATACAATATTATATATATTATATATA ATATTATATATATTATATATAATATATATACAATATTATATATATTATAT ATAATATATATACAATATTATATATATTATATATATATACATATATATGT ATATATACATATATAATATGTATATATGTATATATATATGTATAATATAT ATATTGTATATATATATTATACATATGTATATATATATTATACATATATA TGTATAATATATATAATGTATATATATATACATATTATATATTATATATA ATATATACATATATATTATATATAATATATACATATTATATATTATATAT ATAATATATATACATATTATATTATATATAATATATATACATATTACATA TATTATATATAATATATATACATATATAATATATTATATATTATATATAA TATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSLN_chr16_755734_773862	767620	G G	GCGTGGAG others(475): Show GCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAG GGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGG GGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGT GTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGG GGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAG GGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGG GGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGG AGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGGGGCCGTGT GGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTG GAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	373	0.0027	482	c.159 others(499): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGG CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGG GGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGG CACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAG GGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGGGGCCGTGTGG GGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGA GGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGAGGGGCGCGTG GAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTTP_chr4_99569824_99628997	99588927	A A	ACATATAT others(475): Show ACATATATATGTTCATATATATACACACATATATATGTTCATATATATAT TCATATATATATGTTCATATATATTCATATATATGTTCATATATATATTC ATATATATGTTCATATATATTCATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCAT ATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTC ATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGT TCATATATATATGTTCATATATATGTTCATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATAT ATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATAT ATATGTTCATATATATATGTTCATATATATGTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	251	0.0040	482	c.394 others(497): Show c.394-707_394-706insGTTCATATATATACACACATATATATGTTC ATATATATATTCATATATATATGTTCATATATATTCATATATATGTTCAT ATATATATTCATATATATGTTCATATATATTCATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATGTTCATATATATATGTTCATAT ATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCAT ATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTC ATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGT TCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATAT ATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATAT AT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ACATATAT others(475): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18994.hp2 NA19090.hp1 NA18965.hp1 NA18994.hp2 NA19090.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0036 a0004c0004t0001g0043 a0004c0004t0001g0051 a0004c0004t0001g0036 a0004c0004t0001g0043 a0004c0004t0001g0051	3	170	0.0176	482	c.394 others(497): Show c.394-653_394-652insGTTCATATATATATTCATATATATATGTTC ATGTATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT AT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MVP_chr16_29815462_29853021	29843574	G G	GAGGAAGG others(475): Show GAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGA GGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAG TGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGT GAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGG AGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAA GGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAA GGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAG GGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAAGGGAGGAAGG GAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGGAGGGAGG GAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	183	0.0055	482	c.163 others(499): Show c.1635-916_1635-915insAAGGGAGGAAGGGAGGAAGGGAGGGAGG GAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAG GGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGG GAGTGAAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGG GAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGG AGTGAAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGG AGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGA GGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAG GGAGGGAGGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGG AAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYEOV_chr11_69289155_69302287	69291987	C C	CACCATCA others(475): Show CACCATCATCACCATCATCATCACCATTATCATCACAACCATCATCACCA TCACTATCATCATCACCATCATCATTATCACTACCATCATCATTATCACC CCCACCACCATCATCACCATCATCATCACCACCATCATCATTATCACCAC CCACCATCATCACCATCATCATCATCAACACCATCATCATCATTGTTATC ATCATCATTACCACCATCATCACTACCATCATCACCATCATCACTACCAT CATCACCATCATCATCATCACCACCATCATTCTCATCACCACTATCATCC TCATCCTCCTCCTCATCATTATCACCATCATCATCACCATCATAATCATA TAATCATCATCATCATTACCATCACCACCATTACCCATCATCATCTCATT ATCACTTTCACCTTCATCACTATTACTATCATCATCATCATCATTACCAT TTCCTTTCCATCATCACCATCACTATCATGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG02886.hp2 others(10): Show HG01884.hp2 HG02486.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp2 NA19043.hp2 NA20129.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0002 a0005c0006t0004g0005 a0005c0006t0004g0002 a0005c0006t0004g0005	13	209	0.0622	482	c.-27 others(493): Show c.-2712_-2711insACCATCATCACCATCATCATCACCATTATCATCA CAACCATCATCACCATCACTATCATCATCACCATCATCATTATCACTACC ATCATCATTATCACCCCCACCACCATCATCACCATCATCATCACCACCAT CATCATTATCACCACCCACCATCATCACCATCATCATCATCAACACCATC ATCATCATTGTTATCATCATCATTACCACCATCATCACTACCATCATCAC CATCATCACTACCATCATCACCATCATCATCATCACCACCATCATTCTCA TCACCACTATCATCCTCATCCTCCTCCTCATCATTATCACCATCATCATC ACCATCATAATCATATAATCATCATCATCATTACCATCACCACCATTACC CATCATCATCTCATTATCACTTTCACCTTCATCACTATTACTATCATCAT CATCATCATTACCATTTCCTTTCCATCATCACCATCACTATCATGATT	MYEOV	ENSG00000172927.9	transcript	ENST00000441339.3	protein_coding		2167		chr11	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(475): Show GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTAGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGG TGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0352 a0001c0001t0003g0352	1	4	0.2500	482	c.160 others(499): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCA CCACCACCACCATCACCACCATCACCACCACCACCATCACCACCATCACC ACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYT1_chr20_64159452_64247253	64174630	C C	CCTGTAGC others(475): Show CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTA GCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCA TCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCT TTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTCCTGCAGCA TCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCT TTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCT TTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCT TTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0127 a0001c0002t0006g0127	1	152	0.0066	482	c.-99 others(499): Show c.-99+9893_-99+9894insGTAGCATCTTTCCTAGTTGTGTCCATTT CCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCC CTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTC CCTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCT GGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCT GGCGTCTCCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCT GGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCT GGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCT GGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGC TTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGC TTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NEU4_chr2_241804193_241822413	241805392	C C	CGCAGGCC others(475): Show CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACC CTCCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAAC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACC CTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0003 a0009c0020t0003	a0009c0020t0003g0099 a0009c0020t0003g0099	1	247	0.0040	482	c.-38 others(493): Show c.-3886_-3885insGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3800		chr2	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(475): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCAT CCATCCATCCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCAC CTATCCATCCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTC CGTCCATCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCA TCCATCCATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCAT CCATTCATTAGTTTATCCATCCTCACCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02148.hp1 NA19054.hp2 HG02148.hp1 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0038 a0002c0002t0036g0245 a0002c0002t0036g0038 a0002c0002t0036g0245	2	54	0.0370	482	c.47 others(491): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCAT CCATCCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTAT CCATCCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTC CATCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCA TCCATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCAT TCATTAGTTTATCCATCCTCACCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(475): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCAT CCATCCATCCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTAT CCATCCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTC CATCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCA TCCATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCAT TCATTAGTTTATCCATCCTCACCCATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0090 a0002c0002t0090	a0002c0002t0090g0144 a0002c0002t0090g0144	1	53	0.0189	482	c.47 others(491): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCAT CCATCCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCAT CCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTCCATC CATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCA TCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCAT TAGTTTATCCATCCTCACCCATCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(475): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCAT CCATCCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCAC CTATCCATCCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTC CGTCCATCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCA TCCATCCATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCAT CCATTCATTAGTTTATCCATCCTCACCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0094 a0002c0002t0094	a0002c0002t0094g0305 a0002c0002t0094g0305	1	53	0.0189	482	c.47 others(491): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCATCCAT CCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTAT CCATCCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTC CATCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCA TCCATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCAT TCATTAGTTTATCCATCCTCACCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(475): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCAT CCATCCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTAT CCATCCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTC CATCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCA TCCATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCAT TCATTAGTTTATCCATCCTCACCCATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00609.hp1 others(34): Show HG00280.hp2 HG00438.hp2 HG00609.hp1 HG00735.hp2 HG01074.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01358.hp1 HG01934.hp2 HG02004.hp2 HG02040.hp1 HG02080.hp1 HG02165.hp1 HG02523.hp2 HG02683.hp1 HG02723.hp2 HG03209.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG06807.hp1 NA18747.hp1 NA18941.hp1 NA18963.hp2 NA18985.hp2 NA19005.hp1 NA19064.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0011	a0001c0001 a0002c0002 a0007c0007 others(1): Show a0001c0001 a0002c0002 a0007c0007 a0011c0013	a0001c0001t0002 a0002c0002t0002 a0002c0002t0013 others(6): Show a0001c0001t0002 a0002c0002t0002 a0002c0002t0013 a0002c0002t0025 a0002c0002t0095 a0002c0002t0096 a0002c0002t0097 a0007c0007t0002 a0011c0013t0002	a0001c0001t0002g0061 a0002c0002t0002g0007 a0002c0002t0002g0063 others(34): Show a0001c0001t0002g0061 a0002c0002t0002g0007 a0002c0002t0002g0063 a0002c0002t0002g0094 a0002c0002t0002g0108 a0002c0002t0002g0195 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0223 a0002c0002t0002g0226 a0002c0002t0002g0228 a0002c0002t0002g0233 a0002c0002t0002g0267 a0002c0002t0002g0284 a0002c0002t0002g0294 a0002c0002t0002g0296 a0002c0002t0002g0300 a0002c0002t0002g0303 a0002c0002t0002g0324 a0002c0002t0002g0345 a0002c0002t0013g0139 a0002c0002t0013g0220 a0002c0002t0013g0242 a0002c0002t0013g0302 a0002c0002t0013g0351 a0002c0002t0025g0080 a0002c0002t0025g0222 a0002c0002t0025g0262 a0002c0002t0095g0084 a0002c0002t0096g0213 a0002c0002t0097g0015 a0007c0007t0002g0006 a0007c0007t0002g0008 a0007c0007t0002g0009 a0011c0013t0002g0241	37	89	0.4157	482	c.47 others(491): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCATCCAT CCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCAT CCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTCCATC CATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCA TCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCAT TAGTTTATCCATCCTCACCCATCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(475): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCAT CCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCAT CCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTCCATC CATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCA TCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCAT TAGTTTATCCATCCTCACCCATCCATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0100 a0002c0002t0100	a0002c0002t0100g0263 a0002c0002t0100g0263	1	53	0.0189	482	c.47 others(491): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCATCCAT CCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCAT CCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTCCATCCATC CATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCA TCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGT TTATCCATCCTCACCCATCCATCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(475): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCATCCAT CCATCCATCCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCAC CTATCCATCCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTC CGTCCATCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCA TCCATCCATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCAT CCATTCATTAGTTTATCCATCCTCACCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0111 a0009c0010t0111	a0009c0010t0111g0111 a0009c0010t0111g0111	1	53	0.0189	482	c.47 others(491): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC TTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCATCCATCCAT CCATCCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTAT CCATCCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTC CATCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCA TCCATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCAT TCATTAGTTTATCCATCCTCACCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(475): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCATCCAT CCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTAT CCATCCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTC CATCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCA TCCATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCAT TCATTAGTTTATCCATCCTCACCCATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0113 a0002c0002t0113	a0002c0002t0113g0347 a0002c0002t0113g0347	1	53	0.0189	482	c.47 others(491): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC TTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCATCCATCCAT CCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCAT CCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTCCATC CATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCA TCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCAT TAGTTTATCCATCCTCACCCATCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(475): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCATCCAT CCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCAT CCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTCCATC CATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCA TCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCAT TAGTTTATCCATCCTCACCCATCCATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0114 a0002c0002t0114	a0002c0002t0114g0206 a0002c0002t0114g0206	1	53	0.0189	482	c.47 others(491): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC TTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCATCCATCCAT CCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCAT CCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTCCATCCATC CATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCA TCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGT TTATCCATCCTCACCCATCCATCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTATGTAC others(475): Show CTATGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTGTACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATA CACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACA GTATGTATACTGTGTATGCAGTATGTATACCGTATATATACACAGTATGT ATACTGTGTATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTA TACTGTATATATACACTATACAGTATGTATACTGTATATATACACTATAC AGTATGTATACTGTATATATACACTATACAGTA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0284 a0001c0004t0004g0284	1	118	0.0085	482	c.-75 others(501): Show c.-75+17711_-75+17712insTACTGTATAGTGTATATATACAGTAT ACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATATA TACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATAC ACAGTATACATACTGTGTATATATACGGTATACATACTGCATACACAGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACA TACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATA CTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATACA TACAGTATACATACATACAGTATACATACATACAGTATACATGCTGTACA CAGTATACATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTG TACATA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(475): Show CTGTGTACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC TGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATATAC ACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACAC AGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAG TATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTA TGTATACCGCATACAGTATGTATACTGTATACATACTGCATGCAGTATGT ATACTGTATACATACTGCATGCAGTATGTATACTGTATATATACACTATA CAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATATACA CACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0020 a0001c0005t0007g0020	1	118	0.0085	482	c.-75 others(501): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTAT ACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGTATGCG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATAC ATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACAT ACATACAGTATACATACATACAGTATACATACATACAGTATACATACATA CAGTATACATGCTGTATACAGTATACATGCTGTATACAGTATACATGCTG TACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NLRP5_chr19_55994726_56066810	56036058	C C	CTTTTTTT others(475): Show CTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCC AGGCTGGAGTGCAGTGGTGCAATCTCGGCTCATTGCAAGCCCCACCTCCT GGGTTCACGCCATTCTCCTGCCTCAGCCTCCTAAGTAGCTAGGACTACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTTTAAGTAGAGA CAGGGTTTCACCAGGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACT GCGCCTGGCTGAGATTCTTTCATTCAATAACGACAGATGCTTGATTCTGC GTATAGTACATGTTCCAGGGATGTGCTGATGAATGAAACGAGATTCTTTG ATTCAATAACGACAGATGCTTGATTTTGCATGTAGTACTACGACATGTTC CTGGGACATGCTGATGAATGAATTGAGATTCTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0029 a0029	a0029c0078 a0029c0078	a0029c0078t0001 a0029c0078t0001	a0029c0078t0001g0305 a0029c0078t0001g0305	1	136	0.0074	482	c.261 others(501): Show c.2616-1945_2616-1944insTGGAGACAGAGTCTTGCTCTGTTGCC CAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCATTGCAAGCCCCACCTCC TGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTAAGTAGCTAGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTTTAAGTAGAG ACAGGGTTTCACCAGGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCAC TGCGCCTGGCTGAGATTCTTTCATTCAATAACGACAGATGCTTGATTCTG CGTATAGTACATGTTCCAGGGATGTGCTGATGAATGAAACGAGATTCTTT GATTCAATAACGACAGATGCTTGATTTTGCATGTAGTACTACGACATGTT CCTGGGACATGCTGATGAATGAATTGAGATTCTTTTTTTTTTTTTTTTTT TTTTTT	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NOC4L_chr12_132139457_132157468	132149490	C C	CCACACCC others(475): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCT CGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT AGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCC TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	241	0.0041	482	c.901 others(497): Show c.901+595_901+596insCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTAGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC CT	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
OSGIN1_chr16_83948240_83971332	83951962	C C	CCCTCCCT others(475): Show CCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCC TCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCC TTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCC TCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTG CCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGT CCTCCCTTCCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTCCCTCCT TCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTC CCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCC TCCCTCCTGCCTCCCTCCTTCCCTCCCTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	61	0.0164	482	c.-14 others(493): Show c.-1441_-1440insCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCT CCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCT TCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCT TCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCC TCCCTCCTCCTTTCCTCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCC CTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTC CCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCCCTACTTCCCTCCCT CCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCC CTCCTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCT GCCTCCCTCCTTCCCTCCCTCCTGCCTCCCTCCTTCCCTCCCTCCCTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1277		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83951962	C C	CCCTCCCT others(475): Show CCCTCCCTCTTCCCTTCCTCCTTCCTCCCTCCCTCCTTCCCTCCCTCCCT GCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCCT CCCTCCCTCCTTCCCTCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTT CCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCCTC CTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCC TTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCC TCCCTTCCTCCTCCCCTCCCTACTTCCCTCCCTCCCTGCCTCCCTCCTTC CCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTCC CTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCT CCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0005 a0001c0002t0004g0005	1	61	0.0164	482	c.-14 others(493): Show c.-1441_-1440insCCTCCCTCTTCCCTTCCTCCTTCCTCCCTCCCTC CTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCTT CCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCTTCCTCCCTTCCTCCTTC CCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTC CCTCCTCCTTTCCTCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCCCT CCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTCCC TCCTTCCCTCCGTCCTCCCTTCCTCCTCCCCTCCCTACTTCCCTCCCTCC CTGCCTCCCTCCTTCCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCC TCCTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCTG CCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1277		chr16	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(475): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	122	0.0082	482	c.70 others(493): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(475): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATACATGTATTACATATATGTAATACATATATA ACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	122	0.0082	482	c.70 others(493): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATACATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(475): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	122	0.0082	482	c.70 others(493): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(475): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATACATGTATTACATATATGTAATACATATATA ACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01934.hp1 HG01261.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	123	0.0163	482	c.70 others(493): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATACATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(475): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0005 a0001c0001t0010g0005	1	122	0.0082	482	c.70 others(493): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(475): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA19066.hp1 NA18967.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	2	123	0.0163	482	c.70 others(493): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PFKP_chr10_3062548_3141802	3085316	T T	TCCAGCAC others(475): Show TCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCAAACCCTCC CCAGCACAGTCCCCCAACCCCTCCCCAGCACAGTCCCCCAACCCCTCCCC AGCACAGTCCCCCAACCCCTCCCCAGCAGTCCCCCACTCCACTCTCCAGC ACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACTCCCTCCCCAGCAC AGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAG TCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAGTC CCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAGTCCC CCACTCCACTCTCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCC CCAAACCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTCCCCC ACCCCCTCCCCAGCACAGTCCCCCACCCCCTCC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0343 a0001c0002t0004g0343	1	275	0.0036	482	c.186 others(499): Show c.186+2896_186+2897insAACCCTCCCCAGCACAGTCCCCCAACCC CTCCCCAGCACAGTCCCCCAACCCCTCCCCAGCACAGTCCCCCAACCCCT CCCCAGCAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCCCTCCC CAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACCCCTTCCCCA GCACAGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGC ACAGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCAC AGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACTCCACTCTCCAGCACA GTCCCCCACTCCACTCTCCAGCACAGTCCCCCAAACCCTCCCCAGCACAG TCCCCCACCCCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTC CCCCACCCCCTCCCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCC CCCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PIGQ_chr16_564968_589109	571084	T T	TGTGTGTG others(475): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTG TGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTG TGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTG TGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTG TGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCT GGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGT CTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAG CCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0225 a0002c0001t0001g0225	1	385	0.0026	482	c.-10 others(499): Show c.-10+1012_-10+1013insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT CTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGT ATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGT GTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGT GCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGT GTGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTG others(475): Show TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTG TGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTG TGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCG TGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCT GGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTG GCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGT CTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTG TGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0210 a0002c0001t0001g0210	1	320	0.0031	482	c.-10 others(499): Show c.-10+1012_-10+1013insGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGT GCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGC CCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAG CCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGT CTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGG GGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCT GGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCT AGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGC ACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTG others(475): Show TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTG TGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTG TGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCG TGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCT GGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTG GCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGT CTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTG TGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0010 a0005c0009t0010	a0005c0009t0010g0211 a0005c0009t0010g0211	1	320	0.0031	482	c.-10 others(499): Show c.-10+1012_-10+1013insGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGT GCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGC CCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAG CCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGT CTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGT GGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCT GGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCT AGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGC ACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PLEKHG4B_chr5_87168_194966	165913	T T	TGCTCTGA others(475): Show TGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCA CACTAATGCTGTGACAGGGGGCGGGGCTCACAGTAATGCTCTGACGGGGC GGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGA CGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATG CTCTGACGGGGCGGGGCTCACACTAATGCTGTGACAGGGGTCGGAGCTCA CACAGTAATGCTGTGACGGGGCAGAGCTCACACTAATGCTCTGATGGGGC GGGGCTCACACTAATGCTCTGACGGGGTGGGGCTCACAGTACTCCTCTGA CGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATG CTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACA CTAATGCTCTGACGGGGCGGGGCTCACACTAAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0011 a0012c0020t0011	a0012c0020t0011g0181 a0012c0020t0011g0181	1	175	0.0057	482	c.347 others(501): Show c.3476+2380_3476+2381insAGCTCACACTAATGCTCTGACGGGGC GGAGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCACAGTAATGCTCT GACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAA TGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCA CACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTGTGACAGGGGTC GGAGCTCACACAGTAATGCTGTGACGGGGCAGAGCTCACACTAATGCTCT GATGGGGCGGGGCTCACACTAATGCTCTGACGGGGTGGGGCTCACAGTAC TCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCA CACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGG GGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAACGCTCTGACG GGGCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GACAAAAG others(475): Show GACAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGAAGAAGGA AGAAGAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGA AGAAGAAGGAAGAAGAAAGAAGAAGAAGAAGGAAGAAGGAAGAAGAAAGA AGGAAGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAG AAGAAGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAG AAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAA GAAGAAAGAAAGAAGAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAG GAAGAGGAAGAAAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGA AGAAGGAAGAAGAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAAGAA GGAAGAAGAAGAAGGAAGAAGGAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00609.hp1 others(5): Show HG00423.hp1 HG00423.hp2 HG00609.hp1 HG02056.hp1 HG02074.hp2 NA18747.hp1 NA18951.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0025 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0002t0001g0086	8	21	0.3810	482	c.147 others(501): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCTTCT TCCTTCTTCCTTCTTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTT CCTCTTCCTTTTTTCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTC TTTCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCCTT CTTCCTTCTTTTTCTTCCTTCTTGTTCCTTCTTCCTTCTTCTTCCTTCTT CCTTCTTCTTCTTTCTTCCTTCTTCCTTCTCCTTCCTTCTTCCTTCTTCT TCTTCCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCTTCTTTCTTCTTCC TTCTTCTTCTTTCTTCCTTCTTTTTCTTCCTTCTTTTTCCTTCTTCCTTC TTCTTCTTCCTTCTTCCTTCTTCTTTCTATTTCTTTCTTCTTCTCTCTTC TTTTGT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
RAB11FIP3_chr16_420649_528011	492507	C C	CCCAGGGC others(475): Show CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGA GACCCGAGGCCGTCCGTCCAGAGCCCCCCCGGGAGACCCGAGGCCGTCCA GAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACC CGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCCG TCCGTCCAGAGCCCCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCG TCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGG GAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTC CGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0266 a0001c0002t0054g0266	1	126	0.0079	482	c.126 others(501): Show c.1265+3520_1265+3521insCGGGAGACCCGAGGCCGTCCAGAGCC CTTCCCGGGAGACCCGAGGCCGTCCGTCCAGAGCCCCCCCGGGAGACCCG AGGCCGTCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTC CCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGA CCCGAGGCCGTCCGTCCAGAGCCCCCCCGGGAGACCCGAGGCCGTCCAGA GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCG AGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGG GCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACC CGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCAGGGC CCTCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAC2_chr22_37220270_37249269	37227202	C C	CCTCCCAC others(475): Show CCTCCCACACCATACACCCCTCCCACACCATACACTCCTCCCATGCCTCC CATGCCATACAAGCCCTCCTGTGCCATACACACCCCTCCCACGCCATACA CCCCCCTCCCACGCCTCCCACACCATACACCCCTCCCACACCATACACCC CTCCCACGCCTCCCACACCATACAAGCCCTCCCGTGCCATACACCCCTCC CACAGCATATAACCCCTCCCACGCCATAAAACCCCTCTCACACCATACAC CCCCCCTCCCACACCTCCCACGCCATACAACCCCTCTCACACCATACACC GCTCCCATGCCATACACCCCTCCCACGCCTCCCATGCCATACAACCCTCC CATGACATACAGCCCCTCCTACGCCATACAACCCCTCCTGTGCCATACAC CCCTCCCACGTCATACACCCCCTCCCACGTCATACATCCCCTCCCATGCC TCCCACACCATACAACCCCTCCCACGCCATACA	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0108	1	223	0.0045	482	c.449 others(497): Show c.449-400_449-399insTGTATGGCGTGGGAGGGGTTGTATGGTGTG GGAGGCATGGGAGGGGATGTATGACGTGGGAGGGGGTGTATGACGTGGGA GGGGTGTATGGCACAGGAGGGGTTGTATGGCGTAGGAGGGGCTGTATGTC ATGGGAGGGTTGTATGGCATGGGAGGCGTGGGAGGGGTGTATGGCATGGG AGCGGTGTATGGTGTGAGAGGGGTTGTATGGCGTGGGAGGTGTGGGAGGG GGGGTGTATGGTGTGAGAGGGGTTTTATGGCGTGGGAGGGGTTATATGCT GTGGGAGGGGTGTATGGCACGGGAGGGCTTGTATGGTGTGGGAGGCGTGG GAGGGGTGTATGGTGTGGGAGGGGTGTATGGTGTGGGAGGCGTGGGAGGG GGGTGTATGGCGTGGGAGGGGTGTGTATGGCACAGGAGGGCTTGTATGGC ATGGGAGGCATGGGAGGAGTGTATGGTGTGGGAGGGGTGTATGGTGTGGG AG	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RNF213_chr17_80255852_80403794	80355618	T T	TGGGAATG others(475): Show TGGGAATGGGGGCTTACGGAGGAAGAAGCGGGGTGAACGGGAATGGGGTC TCAGGGAGGAAGAAGCGGGGTGGACGGGAATGGGGGCTCACGGAGGAAGA AGCGGGGTGAATGGGAATGGGGGCTCATGGAGGAAAAAGCGGGGTGACCG GGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTT ACGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACGGAGGAAGAAG CGGGGTGAATGGGAATGGGGGCTTACGGAGGAAGAAGCGGGGTGAATGGG AATGGGGGCTTACGGAGGAAAAAGCGGGGTGACCGGGAATGGGGGCTTAC AGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTATGGAGGAAGAAGCG GGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGGGA ATGGGGGCTTATGGAGGAAGAAGCGGGGTGAAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02004.hp1 HG01934.hp1 HG02004.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0045 a0001c0004t0002g0156 a0001c0004t0002g0045 a0001c0004t0002g0156	2	172	0.0116	482	c.108 others(503): Show c.10862+1058_10862+1059insGGAGGAAGAAGCGGGGTGAACGGG AATGGGGTCTCAGGGAGGAAGAAGCGGGGTGGACGGGAATGGGGGCTCAC GGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTCATGGAGGAAAAAGCG GGGTGACCGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAA TGGGGGCTTACGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACGG AGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACGGAGGAAGAAGCGGG GTGAATGGGAATGGGGGCTTACGGAGGAAAAAGCGGGGTGACCGGGAATG GGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTATGGAG GAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGG TGGACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGG GGGCTTAC	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	316127	G G	GACCTTTA others(475): Show GACCTTTAGTCCCTCTGACCCCACCTCCATTGACCTGTAGTCCCTGTACT CCACCTCCATTGTCCTGTAGTCCCTGTGCTCCACCTCCATTGACCTGTAG CCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGTGCTCCACCTCCAT TGATATGCAGTCCCGGTGCCCCCACCTCCATTGACCTGTAGTCCCTGTGC TCCACCTCCATTGATATGCAGTCCTTCTGACCCCACCTCCACTGCCCTGT AGTCTCTGTGCCCCACCTCCATTGACCTGTAGTCCCTGTGCTCCACCTCC ACTGACGTGTAGTCCCTATGCTCCACCTCCATTGACCTGTAGTCTCTGTG ACCCCACCTCCATTGACCTGCAGACCCTGTGCTCCACCTCCATTGAGCAA TAGTCCCTGTGCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCA TTGACCTGTAGTCCCTGTGCTCCACCTCCACTA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	76	0.0132	482	c.351 others(499): Show c.351+3292_351+3293insTAGTGGAGGTGGAGCACAGGGACTACAG GTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGCACAGG GACTATTGCTCAATGGAGGTGGAGCACAGGGTCTGCAGGTCAATGGAGGT GGGGTCACAGAGACTACAGGTCAATGGAGGTGGAGCATAGGGACTACACG TCAGTGGAGGTGGAGCACAGGGACTACAGGTCAATGGAGGTGGGGCACAG AGACTACAGGGCAGTGGAGGTGGGGTCAGAAGGACTGCATATCAATGGAG GTGGAGCACAGGGACTACAGGTCAATGGAGGTGGGGGCACCGGGACTGCA TATCAATGGAGGTGGAGCACAGGGACTACAGGTCAATGGAGGTGGAGCAC AGAGGCTACAGGTCAATGGAGGTGGAGCACAGGGACTACAGGACAATGGA GGTGGAGTACAGGGACTACAGGTCAATGGAGGTGGGGTCAGAGGGACTAA AGGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	316127	G G	GACCTTTA others(475): Show GACCTTTAGTCCCTCTGACCCCACCTCCATTGACCTGTAGTCCCTGTACT CCACCTCCATTGTCCTGTAGTCCCTGTGCTCCACCTCCATTGACCTGTAG CCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGTGCTCCACCTCCAT TGATATGCAGTCCCGGTGCCCCCACCTCCATTGACCTGTAGTCCCTGTGC TCCACCTCCATTGATATGCAGTCCTTCTGACCCCACCTCCACTGCCCTGT AGTCTCTGTGCCCCACCTCCATTGACCTGTAGTCCCTGTGCTCCACCTCC ACTGACGTGTAGTCCCTATGCTCCACCTCCATTGACCTGTAGTCTCTGTG ACCCCACCTCCATTGACCTGCAGACCCTGTGCTCCACCTCCATTGAGCAG TAGTCCCTGTGCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCA TTGACCTGTAGTCCCTGTGCTCCACCTCCACTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(53): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG03017.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp1 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18947.hp2 NA18951.hp2 NA18959.hp2 NA18963.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19004.hp1 NA19005.hp2 NA19056.hp1 NA19056.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19088.hp1 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0015 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0032 a0001c0002t0001 a0001c0004t0001 a0001c0004t0004 a0001c0004t0026 a0001c0006t0004 a0001c0008t0001 a0001c0015t0007 a0005c0009t0001	a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0030 others(53): Show a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0002g0010 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0061 a0001c0001t0002g0078 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0004g0008 a0001c0001t0004g0021 a0001c0001t0004g0039 a0001c0001t0004g0092 a0001c0001t0004g0097 a0001c0001t0004g0121 a0001c0001t0007g0032 a0001c0001t0009g0066 a0001c0001t0009g0094 a0001c0001t0011g0003 a0001c0001t0011g0007 a0001c0001t0011g0056 a0001c0001t0012g0053 a0001c0001t0013g0055 a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0001t0014g0025 a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0001t0032g0004 a0001c0002t0001g0057 a0001c0004t0001g0046 a0001c0004t0001g0048 a0001c0004t0001g0050 a0001c0004t0001g0062 a0001c0004t0001g0086 a0001c0004t0004g0014 a0001c0004t0026g0013 a0001c0006t0004g0022 a0001c0008t0001g0044 a0001c0015t0007g0026 a0005c0009t0001g0054	56	131	0.4275	482	c.351 others(499): Show c.351+3292_351+3293insTAGTGGAGGTGGAGCACAGGGACTACAG GTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGCACAGG GACTACTGCTCAATGGAGGTGGAGCACAGGGTCTGCAGGTCAATGGAGGT GGGGTCACAGAGACTACAGGTCAATGGAGGTGGAGCATAGGGACTACACG TCAGTGGAGGTGGAGCACAGGGACTACAGGTCAATGGAGGTGGGGCACAG AGACTACAGGGCAGTGGAGGTGGGGTCAGAAGGACTGCATATCAATGGAG GTGGAGCACAGGGACTACAGGTCAATGGAGGTGGGGGCACCGGGACTGCA TATCAATGGAGGTGGAGCACAGGGACTACAGGTCAATGGAGGTGGAGCAC AGAGGCTACAGGTCAATGGAGGTGGAGCACAGGGACTACAGGACAATGGA GGTGGAGTACAGGGACTACAGGTCAATGGAGGTGGGGTCAGAGGGACTAA AGGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SAMD12_chr8_118372984_118626963	118469556	A A	ATATAATA others(475): Show ATATAATATATATATATAATATATATATAATATATATATAATATATAATA TTATATATAATATATATTTATATGTTATATATAATATATAATATATATTA TATATAATATATATATATATTATATATAATATATAATATATATTATATAT TATATATTATATATAATATATATTATATATAATATATAATATATAATATA ATATATATTATATATAATATATATTATATATAATATATAATATATATTAT ATATTATATATTATATAATATATATTATATATAATATATATTATATATTA TATATTATATATAATATATAAATATATTATATATAATATATAATATATAT TATATATAATATATAAATATATATTATATATTATATATAATATATAATAT ATTATATATATATTTAATATATATTTTATATATAAATATATATTATATAT ATTTAATATATATTTTATATATATTAAATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	23	0.0435	482	c.193 others(501): Show c.193-29596_193-29595insATATATTTAATATATATAAAATATAT ATTAAATATATATAATATATATTTATATATAAAATATATATTAAATATAT ATATAATATATTATATATTATATATAATATATAATATATATTTATATATT ATATATAATATATATTATATATTATATATAATATATTTATATATTATATA TAATATATAATATATAATATATATTATATATAATATATATTATATAATAT ATAATATATAATATATATTATATATTATATATAATATATATTATATATAA TATATATTATATTATATATTATATATTATATATAATATATATTATATATA ATATATAATATATAATATATATTATATATTATATATAATATATATATATA TTATATATAATATATATTATATATTATATATAACATATAAATATATATTA TATATAATATTATATATTATATATATATTATATATATATTATATATATAT ATTATA	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SBNO2_chr19_1102638_1179268	1166024	C C	CCCCAGAT others(475): Show CCCCAGATCTCAGACCCCAGATCCCAGACCCCAAGATCCCAGACCCCAGA TCCTAGACCCCAGACCTCAGACCCCAGATCTCAGACCCCAGATCCCAGAC CCCAGATCTCAGACCCCAGATCCCAGACCCCAGATCCTAGATCTCAGACC CCAGATCTCAGACCCCAGACCCCAGATCCCAGACCCCAAGATCCCAGACC CCAGATCCTAGATCCCAGACCTCAGACCCCAGATCTCAGACCCCAGATCT CAGACCCCAGATCCCAGATCCCAAAACCCAGACCCCAGACCTCAGACCTC AGACCCCCAGACCCCAGATCCCAGACCCCAGACCTCAGACCCCAGATCCC AGACCCCAGATCACCAGATCTCAGACCCCAGACCCCAGATCCCAGACTTC AGATCCCTAGACCTCAGACCCCAGACCCCAGATCCCAGACCCCAAACCTC AGACCCCAGATCCCAGACCCCAGATCACCAGAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	202	0.0050	482	c.-12 others(501): Show c.-127+8147_-127+8148insATCTGGTGATCTGGGGTCTGGGATCT GGGGTCTGAGGTTTGGGGTCTGGGATCTGGGGTCTGGGGTCTGAGGTCTA GGGATCTGAAGTCTGGGATCTGGGGTCTGGGGTCTGAGATCTGGTGATCT GGGGTCTGGGATCTGGGGTCTGAGGTCTGGGGTCTGGGATCTGGGGTCTG GGGGTCTGAGGTCTGAGGTCTGGGGTCTGGGTTTTGGGATCTGGGATCTG GGGTCTGAGATCTGGGGTCTGAGATCTGGGGTCTGAGGTCTGGGATCTAG GATCTGGGGTCTGGGATCTTGGGGTCTGGGATCTGGGGTCTGGGGTCTGA GATCTGGGGTCTGAGATCTAGGATCTGGGGTCTGGGATCTGGGGTCTGAG ATCTGGGGTCTGGGATCTGGGGTCTGAGATCTGGGGTCTGAGGTCTGGGG TCTAGGATCTGGGGTCTGGGATCTTGGGGTCTGGGATCTGGGGTCTGAGA TCTGGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1166026	C C	CCAGATCT others(475): Show CCAGATCTCAGACCCCAGATCCCAGACACACACTCTATCAGATTCCAGAT CCTAGACCCCCAGACCTCAGACCCCAGATCTCAGACCCAGATCCCAGACC CAGATCTCAGACCCCAGATCCCAGACCCCAGATCCTAGATCTCAGACCCC AGATCTCAGACCCCAGACCCCAGATCCCAGACCCCAAGATCCCAGACCCC AGATCCTAGATCCCAGACCTCAGACCCCAGATCTCAGACCCCAGATCTCA GACCCCAGATCCCAGATCCCAAAACCCAGACCCCAGACCTCAGACCTCAG ACCCCCAGACCCCAGATCCCAGACCCCAGACCTCAGACCCCAGATCCCAG ACCCCAGATCACCAGATCTCAGACCCCAGACCCCAGATCCCAGACTTCAG ATCCCTAGACCTCAGACCCCAGACCCCAGATCCCAGACCCCAAACCTCAG ACCCCAGATCCCAGACCCCAGATCACCAGATCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0153 a0001c0035t0001g0153	1	79	0.0127	482	c.-12 others(501): Show c.-127+8145_-127+8146insAGATCTGGTGATCTGGGGTCTGGGAT CTGGGGTCTGAGGTTTGGGGTCTGGGATCTGGGGTCTGGGGTCTGAGGTC TAGGGATCTGAAGTCTGGGATCTGGGGTCTGGGGTCTGAGATCTGGTGAT CTGGGGTCTGGGATCTGGGGTCTGAGGTCTGGGGTCTGGGATCTGGGGTC TGGGGGTCTGAGGTCTGAGGTCTGGGGTCTGGGTTTTGGGATCTGGGATC TGGGGTCTGAGATCTGGGGTCTGAGATCTGGGGTCTGAGGTCTGGGATCT AGGATCTGGGGTCTGGGATCTTGGGGTCTGGGATCTGGGGTCTGGGGTCT GAGATCTGGGGTCTGAGATCTAGGATCTGGGGTCTGGGATCTGGGGTCTG AGATCTGGGTCTGGGATCTGGGTCTGAGATCTGGGGTCTGAGGTCTGGGG GTCTAGGATCTGGAATCTGATAGAGTGTGTGTCTGGGATCTGGGGTCTGA GATCTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1166026	C C	CCAGATCT others(475): Show CCAGATCTCAGACCCCAGATCCCAGACCCCAAGATCCCAGACCCCAGATC CTAGACCCCAGACCTCAGACCCCAGATCTCAGACCCCAGATCCCAGACCC CAGATCTCAGACCCCAGATCCCAGACCCCAGATCCTAGATCTCAGACCCC AGATCTCAGACCCCAGACCCCAGATCCCAGACCCCAAGATCCCAGACCCC AGATCCTAGATCCCAGACCTCAGACCCCAGATCTCAGACCCCAGATCTCA GACCCCAGATCCCAGATCCCAAAACCCAGACCCCAGACCTCAGACCTCAG ACCCCCAGACACCAGATCCCAGACCCCAGACCTCAGACCCCAGATCCCAG ACCCCAGATCACCAGATCTCAGACCCCAGACCCCAGATCCCAGACTTCAG ATCCCTAGACCTCAGACCCCAGACCCCAGATCCCAGACCCCAAACCTCAG ACCCCAGATCCCAGACCCCAGATCACCAGATCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03209.hp2 HG03486.hp2 others(2): Show HG02723.hp2 HG03209.hp2 HG03486.hp2 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0011 others(1): Show a0001c0001 a0001c0004 a0001c0011 a0001c0025	a0001c0001t0001 a0001c0004t0001 a0001c0011t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0011t0001 a0001c0025t0001	a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0004t0001g0080 others(2): Show a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0004t0001g0080 a0001c0011t0001g0079 a0001c0025t0001g0081	5	83	0.0602	482	c.-12 others(501): Show c.-127+8145_-127+8146insAGATCTGGTGATCTGGGGTCTGGGAT CTGGGGTCTGAGGTTTGGGGTCTGGGATCTGGGGTCTGGGGTCTGAGGTC TAGGGATCTGAAGTCTGGGATCTGGGGTCTGGGGTCTGAGATCTGGTGAT CTGGGGTCTGGGATCTGGGGTCTGAGGTCTGGGGTCTGGGATCTGGTGTC TGGGGGTCTGAGGTCTGAGGTCTGGGGTCTGGGTTTTGGGATCTGGGATC TGGGGTCTGAGATCTGGGGTCTGAGATCTGGGGTCTGAGGTCTGGGATCT AGGATCTGGGGTCTGGGATCTTGGGGTCTGGGATCTGGGGTCTGGGGTCT GAGATCTGGGGTCTGAGATCTAGGATCTGGGGTCTGGGATCTGGGGTCTG AGATCTGGGGTCTGGGATCTGGGGTCTGAGATCTGGGGTCTGAGGTCTGG GGTCTAGGATCTGGGGTCTGGGATCTTGGGGTCTGGGATCTGGGGTCTGA GATCTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1166026	C C	CCAGATCT others(475): Show CCAGATCTCAGACCCCAGATCCCAGACCCCAAGATCCCAGACCCCAGATC CTAGACCCCAGACCTCAGACCCCAGATCTCAGACCCCAGATCCCAGACCC CAGATCTCAGACCCCAGATCCCAGACCCCAGATCCTAGATCTCAGACCCC AGATCTCAGACCCCAGACCCCAGATCCCAGACCCCAAGATCCCAGACCCC AGATCCTAGATCCCAGACCTCAGACCCCAGATCTCAGACCCCAGATCTCA GACCCCAGATCCCAGATCCCAAAACCCAGACCCCAGACCTCAGACCTCAG ACCCCCAGACCCCAGATCCCAGACCCCAGACCTCAGACCCCAGATCCCAG ACCCCAGATCACCAGATCTCAGACCCCAGACCCCAGATCCCAGACTTCAG ATCCCTAGACCTCAGACCCCAGACCCCAGATCCCAGACCCCAAACCTCAG ACCCCAGATCCCAGACCCCAGATCACCAGATCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp2 others(85): Show HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00733.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG04184.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18945.hp2 NA18947.hp1 NA18983.hp1 NA18983.hp2 NA19005.hp1 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010	a0001c0001 a0001c0002 a0001c0004 others(24): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0013 a0001c0015 a0001c0016 a0001c0018 a0001c0020 a0001c0023 a0001c0026 a0001c0028 a0001c0032 a0001c0041 a0001c0043 a0002c0003 a0002c0008 a0003c0014 a0003c0017 a0004c0012 a0005c0022 a0006c0027 a0010c0033	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0002t0012 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0010t0001 a0001c0011t0001 a0001c0013t0001 a0001c0015t0001 a0001c0016t0001 a0001c0018t0001 a0001c0020t0001 a0001c0023t0001 a0001c0026t0001 a0001c0028t0001 a0001c0032t0001 a0001c0041t0010 a0001c0043t0001 a0002c0003t0001 a0002c0008t0001 a0003c0014t0001 a0003c0017t0001 a0004c0012t0002 a0005c0022t0001 a0006c0027t0001 a0010c0033t0002	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0073 others(85): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0105 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0003g0175 a0001c0001t0008g0106 a0001c0002t0001g0008 a0001c0002t0001g0040 a0001c0002t0001g0088 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0168 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0203 a0001c0002t0012g0181 a0001c0004t0001g0001 a0001c0004t0001g0036 a0001c0004t0001g0038 a0001c0004t0001g0157 a0001c0004t0001g0160 a0001c0005t0001g0091 a0001c0005t0001g0130 a0001c0005t0001g0131 a0001c0005t0001g0138 a0001c0005t0001g0144 a0001c0005t0001g0145 a0001c0006t0001g0039 a0001c0006t0001g0109 a0001c0006t0001g0152 a0001c0006t0001g0155 a0001c0006t0001g0179 a0001c0007t0001g0028 a0001c0007t0001g0135 a0001c0007t0001g0146 a0001c0007t0001g0176 a0001c0007t0001g0177 a0001c0010t0001g0002 a0001c0010t0001g0022 a0001c0010t0001g0035 a0001c0011t0001g0037 a0001c0011t0001g0077 a0001c0011t0001g0104 a0001c0011t0001g0159 a0001c0013t0001g0089 a0001c0013t0001g0095 a0001c0013t0001g0102 a0001c0013t0001g0142 a0001c0013t0001g0183 a0001c0015t0001g0017 a0001c0015t0001g0108 a0001c0016t0001g0107 a0001c0018t0001g0149 a0001c0020t0001g0027 a0001c0023t0001g0139 a0001c0026t0001g0199 a0001c0028t0001g0191 a0001c0032t0001g0151 a0001c0041t0010g0093 a0001c0043t0001g0184 a0002c0003t0001g0140 a0002c0008t0001g0189 a0003c0014t0001g0003 a0003c0014t0001g0133 a0003c0014t0001g0134 a0003c0017t0001g0087 a0003c0017t0001g0101 a0004c0012t0002g0075 a0004c0012t0002g0158 a0005c0022t0001g0128 a0006c0027t0001g0174 a0010c0033t0002g0072	88	166	0.5301	482	c.-12 others(501): Show c.-127+8145_-127+8146insAGATCTGGTGATCTGGGGTCTGGGAT CTGGGGTCTGAGGTTTGGGGTCTGGGATCTGGGGTCTGGGGTCTGAGGTC TAGGGATCTGAAGTCTGGGATCTGGGGTCTGGGGTCTGAGATCTGGTGAT CTGGGGTCTGGGATCTGGGGTCTGAGGTCTGGGGTCTGGGATCTGGGGTC TGGGGGTCTGAGGTCTGAGGTCTGGGGTCTGGGTTTTGGGATCTGGGATC TGGGGTCTGAGATCTGGGGTCTGAGATCTGGGGTCTGAGGTCTGGGATCT AGGATCTGGGGTCTGGGATCTTGGGGTCTGGGATCTGGGGTCTGGGGTCT GAGATCTGGGGTCTGAGATCTAGGATCTGGGGTCTGGGATCTGGGGTCTG AGATCTGGGGTCTGGGATCTGGGGTCTGAGATCTGGGGTCTGAGGTCTGG GGTCTAGGATCTGGGGTCTGGGATCTTGGGGTCTGGGATCTGGGGTCTGA GATCTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGG others(475): Show TTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGG GGGTGGGGTGGGGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGGTT GGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGT TGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTT GAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGG GTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGG TGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGG GTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	136	0.0074	482	c.464 others(495): Show c.464+91_464+92insTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGG GGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGGGGGGTTGAGTGAGGG GGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGG GTGGGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGG GGTGGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGG TTGGGTGAGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTG GGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGG TTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGT TGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGG GGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(475): Show GTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAAGT GAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTC TCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	194	0.0052	482	c.173 others(501): Show c.1735-8370_1735-8369insGGTCAGCCCCCCGCCTGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCC CCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGG TCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCT GCCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTG GGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGAT GGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(475): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAAGT GAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTC TCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	194	0.0052	482	c.173 others(501): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCC CCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGG TCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCT GCCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTG GGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGAT GGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(475): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAAGT GAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTC TCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG04199.hp2 HG03834.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0086 a0001c0001t0001g0061 a0001c0001t0001g0086	2	195	0.0103	482	c.173 others(501): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGG TCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCT GCCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTG GGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGAT GGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar

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