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
VIPR2_chr7_159023175_159149867	159088856	A A	AGCTCCTC others(639): Show AGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCT GTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAACGGGAA TAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCC TCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCAT CTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGG AATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGG CCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTC ATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATG GGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCA GGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCC TCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAA TGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCT CAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	336	0.0030	646	c.357 others(665): Show c.357+14900_357+14901insCGAGGCCTGAGGCTATTCCCATTCCA CAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGC CGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGG CTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTC CACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGA GCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGA GGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCAT TCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAG GAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCT GAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCC ATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATG AGGAGCCGAGGCCTGAGGCTATTCCCGTTCCACAGATGAGGAGCCGAGGC CTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTC CCATTCCACAGATGAGGAGC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159088856	A A	AGCTCCTC others(639): Show AGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCT GTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAA TAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCC TCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCAT CTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGG AATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGG CCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTC ATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATG GGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCA GGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCC TCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAA TGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCT CAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(26): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00423.hp2 HG00642.hp2 HG01070.hp1 HG01071.hp1 HG01168.hp2 HG01261.hp2 HG01891.hp2 HG01934.hp2 HG02055.hp1 HG02056.hp1 HG02145.hp1 HG02258.hp1 HG03098.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp1 HG06807.hp2 NA18957.hp2 NA18963.hp2 NA18975.hp2 NA18979.hp1 NA18982.hp2 NA20905.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0007c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0025 a0001c0002t0002 a0001c0005t0006 a0001c0009t0002 a0007c0019t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 others(26): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0203 a0001c0001t0001g0269 a0001c0001t0001g0284 a0001c0001t0001g0290 a0001c0001t0003g0051 a0001c0001t0004g0015 a0001c0001t0007g0154 a0001c0001t0008g0041 a0001c0001t0008g0049 a0001c0001t0010g0097 a0001c0001t0010g0223 a0001c0001t0010g0225 a0001c0001t0010g0226 a0001c0001t0010g0227 a0001c0001t0025g0059 a0001c0001t0025g0276 a0001c0002t0002g0040 a0001c0002t0002g0212 a0001c0005t0006g0300 a0001c0005t0006g0321 a0001c0009t0002g0192 a0007c0019t0001g0068	29	336	0.0863	646	c.357 others(665): Show c.357+14900_357+14901insCGAGGCCTGAGGCTATTCCCATTCCA CAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGC CGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGG CTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTC CACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGA GCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGA GGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCAT TCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAG GAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCT GAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCC ATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATG AGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGC CTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTC CCATTCCACAGATGAGGAGC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159088894	G G	GGCTCCTC others(639): Show GGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCT GTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAA TAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCC TCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCAT CTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGG AATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGG CCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTC ATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATG GGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCA GGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCC TCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAA TGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCT CAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0131 a0001c0001t0010g0131	1	336	0.0030	646	c.357 others(665): Show c.357+14862_357+14863insTGAGGCCTGAGGCTATTCCCATTCCA CAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGC CGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGG CTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTC CACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGA GCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGA GGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCAT TCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAG GAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCT GAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCC ATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATG AGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGC CTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTC CCATTCCACAGATGAGGAGC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(639): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTTCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCC CCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTTCCCCCCTTCCCCCCTTTTCCCTTTCCCCCCTTCCCCCTTCCCCCTTC CCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	246	0.0041	646	c.-10 others(663): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTTCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTC TTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTTCCCTTTCC CCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCC CCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(640): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0142 a0001c0002t0003g0142	1	249	0.0040	647	c.49- others(662): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ADPRHL1_chr13_113394611_113458488	113419002	T T	TCCTTCCT others(640): Show TCCTTCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TCCTTTCTTCCCCTTCCCCTCCCTTCCCTTCCTTCTTTTCCTTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTC CCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCT TTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTC TTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTC CCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTT CCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT CCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCT TCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTC CCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0061 a0002c0001t0061	a0002c0001t0061g0053 a0002c0001t0061g0053	1	262	0.0038	647	c.106 others(666): Show c.1061+3823_1061+3824insGAGGGAGGGAGGGAGGGAGGGAGGGA AGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGG GAGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAAAAGAAGGAAGGGAAG GGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAA GGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAA GGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGG AAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA AGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGAGG GAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAG GGAGGGGAAGGGGAAGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAG AAAGGAAGGGAGGGAGGAAGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113419038	C C	CCCCTTCC others(640): Show CCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCC CTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCC TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCT TCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCC CTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTT CCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTT CTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0046 a0002c0001t0001g0046	1	262	0.0038	647	c.106 others(666): Show c.1061+3787_1061+3788insAGGGGAAGGGGAAGAAAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAG GGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAG GGAGGGAGGGAAGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAG GGGAAGAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGA AGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGA AGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGA AGGGGAAGAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGG AAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAG GGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGG GAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAA GGAAAAGAAGGAAGGGAAGGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(640): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATATTAT ATACATATAATATATATTCTCATATATATTATATATACTCATATATATAA TATATATTCTCATATATATATATTATATATTCTCATATATATAATATATA TATTCTCATATATAATATATATTCTCATATATATAATATATACTCATATA TTATATATATTCTCATATATTATATATATACTCATATATAATGTATATAT TCTAATATATAATATATATTTTCTCATTTATATAATATATATTCTCATAT ATAATATATATTCTCATATATGACATATTATATATATTCTCATATATATT ATATATTCTCATATATAATATATATTCTCATATAATATATTATATATTCT CATATAATATATTATATATTCTCATATATAATATATTATATATGCTCATA TATAATATATTATATATGCTCATATATAATATATTATATATGCTCATATA TAATATATTATATATGCTCATATATAATATATTATATATGCTCATATATA ATATATTATATATGCTCATATATAATATATTATATATGCTCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0000 a0001c0001t0033g0000	1	416	0.0024	647	c.10 others(660): Show c.10504_*10505insTATATATGAGCATATATAATATATTATATATG AGCATATATAATATATTATATATGAGCATATATAATATATTATATATGAG CATATATAATATATTATATATGAGCATATATAATATATTATATATGAGCA TATATAATATATTATATATGAGCATATATAATATATTATATATGAGAATA TATAATATATTATATGAGAATATATAATATATTATATGAGAATATATATT ATATATGAGAATATATAATATATATGAGAATATATATAATATGTCATATA TGAGAATATATATTATATATGAGAATATATATTATATAAATGAGAAAATA TATATTATATATTAGAATATATACATTATATATGAGTATATATATAATAT ATGAGAATATATATAATATATGAGTATATATTATATATATGAGAATATAT ATTATATATGAGAATATATATATTATATATATGAGAATATATAATATATA TATATGAGAATATATATTATATATATGAGTATATATAATATATATGAGAA TATATATTATATGTATATAATATATATAATATATAATATATAATATATAC ATATATACATATAATATATAAACATATAATATATAATATATACATGTAAT ATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
ANO9_chr11_412938_447011	431622	C C	CGGGTATC others(640): Show CGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCGCGGGTATCTG GGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGGGGCGTC TGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCGGGGGTG TGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGGGGTGTGGGGGCGTC CGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGCTCCCGTGGGTATC TGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGGCTTC CGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGGGCTTCTGCGGGGG TGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCT CCCGCGGGTATCTGGGGGCGTCTGCGGGGATGTGGGGGCGTCCGCGGGTA TCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCG TCTGCAGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGGGGCATCTGCGGG GGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGG CACCCGCGGGTATCTGGGGGCGTCTGCGGGGGGTGTGGGGGCGTCCGT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	286	0.0035	647	c.539 others(660): Show c.539+71_539+72insACGGACGCCCCCACACCCCCCGCAGACGCCCC CAGATACCCGCGGGTGCCCCCACACCCCCGCGGAAGCCCCCAGATACCCG CGGACGCCCCCACACCCCCGCAGATGCCCCCCCAGATACCCACGGGAGCC CCCACACCCCTGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCC CGCAGACGCCCCCAGATACCCGCGGACGCCCCCACATCCCCGCAGACGCC CCCAGATACCCGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACC CGCGGGAGCCCCCACACCCCCGCAGAAGCCCCCCCAGATACCCGCGGACG CCCCCACACCCCCGCGGAAGCCCCCAGATACCCACGGGAGCCCCCACACC CCCGCGGACGCCCCCAGATACCCACGGGAGCCCCCACACCCCTGCGGAAG CCCCCAGATACCCGCGGACGCCCCCACACCCCTGCAGAAGCCCCCAGATA CCCGCGGACGCCCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACG CCCCCACACCCCCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACA CCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGA CGCCCCCAGATACCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431622	C C	CGGGTATC others(640): Show CGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCGCGGGTATCTG GGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGGGGCGTC TGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCGGGGGTG TGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGGGGTGTGGGGGCGTC CGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGCTCCCGTGGGTATC TGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGGCTTC CGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGGGCTTCTGCGGGGG TGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCT CCCGCGGGTATCTGGGGGCGTCTGCGGGGATGTGGGGGCGTCCGCGGGTA TCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCG TCTGCAGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGGGGCATCTGCGGG GGTGTGGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGG GCACCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	286	0.0035	647	c.539 others(660): Show c.539+71_539+72insACGGACGCCCCCACACCCCCGCAGACGCCCCC AGATACCCGCGGGTGCCCCCACACCCCCGCGGAAGCCCCCAGATACCCGC GGACGCCCCCCACACCCCCGCAGATGCCCCCCCAGATACCCACGGGAGCC CCCACACCCCTGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCC CGCAGACGCCCCCAGATACCCGCGGACGCCCCCACATCCCCGCAGACGCC CCCAGATACCCGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACC CGCGGGAGCCCCCACACCCCCGCAGAAGCCCCCCCAGATACCCGCGGACG CCCCCACACCCCCGCGGAAGCCCCCAGATACCCACGGGAGCCCCCACACC CCCGCGGACGCCCCCAGATACCCACGGGAGCCCCCACACCCCTGCGGAAG CCCCCAGATACCCGCGGACGCCCCCACACCCCTGCAGAAGCCCCCAGATA CCCGCGGACGCCCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACG CCCCCACACCCCCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACA CCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGA CGCCCCCAGATACCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(640): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGTAGGGTGGGGGAAGGGTGCGGGTGGGGT TGGGGAGGGGTGGGGTGGAGTGGGGAAGGGTATGGGTGGGGCTGGGGAGT GGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTACTCC CTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGTG GAGGAGGGGTGGGGGAGGGAGGGATGGGGTGGGGGAAGGGTGTGGGTGGG GGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCC CTGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGTG GGGGAAGGGTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGTGGGGTGGGAG GGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0019 a0019	a0019c0022 a0019c0022	a0019c0022t0001 a0019c0022t0001	a0019c0022t0001g0209 a0019c0022t0001g0209	1	284	0.0035	647	c.712 others(664): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCACCCCACCCCTCCCACCCCACCCCACCCCTCCCACCCCA CCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCCCAC CCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTC CCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCATCCC TCCCTCCCCCACCCCTCCTCCACCCCACCTGCACCCTTCCCCCACCCCAC CCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCTCC CCCTCCCACCCCACCCCACCACTCCCCAGCCCCACCCATACCCTTCCCCA CTCCACCCCACCCCTCCCCAACCCCACCCGCACCCTTCCCCCACCCTACC CACCCCTCCCCAGCCCCACACACACCCTTCCCCCACCCCAACCCTCCCCA GCCCCACCCACACCCTTCCCCCACCCCACCCCACCCCTCCCCCACCCCAC CCCAACCCTCCCCCACCCCACCCCAACCCTCCCCAGCCCCACACACCCTT CCCCCACCCCAACCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCA CCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(640): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGTAGGGTGGGGGAAGGGTGCGGGTGGGGT TGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGGCTGGGGAG GGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTACTC CCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGT GGAGGAGGGTTGGGGAGGGAGGGATGGGGTGGGGGAAGGGTGTGGGTGGG GGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCC CTGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGTG GGGGAAGGGTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGTGGGGTGGGAG GGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGGGGAGGAGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0014 a0014	a0014c0033 a0014c0033	a0014c0033t0001 a0014c0033t0001	a0014c0033t0001g0012 a0014c0033t0001g0012	1	284	0.0035	647	c.712 others(664): Show c.712-2416_712-2415insCCCACCCCACTCCTCCCCCACCCCACCC CCTCCCACCCCACCCCACCCCTCCCACCCCACCCCACCCCTCCCACCCCA CCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCCCAC CCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTC CCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCATCCC TCCCTCCCCAACCCTCCTCCACCCCACCTGCACCCTTCCCCCACCCCACC CCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCTCCC CCTCCCACCCCACCCCACCCCTCCCCAGCCCCACCCATACCCTTCCCCCA CTCCACCCCACCCCTCCCCAACCCCACCCGCACCCTTCCCCCACCCTACC CACCCCTCCCCAGCCCCACACACACCCTTCCCCCACCCCAACCCTCCCCA GCCCCACCCACACCCTTCCCCCACCCCACCCCACCCCTCCCCCACCCCAC CCCAACCCTCCCCCACCCCACCCCAACCCTCCCCAGCCCCACACACCCTT CCCCCACCCCAACCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCA CCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(640): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATAAATA TATAAATATATATATATTTATAAATATATAAATATATATATATTTATAAA TATATAAATATATATATATTTATAAATATATAAATATATATAAAAATATA TATAAATATATAAAAAATATAAATATATATAAATATATAAATATATGTAA ATATATATAAATATATATATAAATATATATATAAATATATATATAAATAT ATATATATAAATATATATAAATATATAACTATATAAATAAATATATATAA ATATATAAATATATAAAAATATATATAAATATATATGTAAATATATAAAT ATATATAAATATATATAAATATATATAAGTATATAAATATATATAAATAT ATATAAGTATATAAATATATATATAAATATATATAAGTATATAAATATAT ATATAAATATATATAAGTATATAAATATATATAAATATATATAAGTATAT AAATATATATATAAATATATATAAGTATATATAAATATATATAAATATAT ATAAGTATATATAAATATATAAAAATATATATAAGTATATATAAATAT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0006 a0013c0020t0006	a0013c0020t0006g0024 a0013c0020t0006g0024	1	264	0.0038	647	c.181 others(666): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATTTACATATATTTATATATTTATATATAT TTATATTTTTTATATATTTATATATATTTTTATATATATTTATATATTTA TAAATATATATATATTTATATATTTATAAATATATATATATTTATATATT TATAAATATATATATATTTATATATTTATAAATATATTTATATTTATATA TATTTACATATATATTTAGAATTACATATTTATATATATATTTATATTTA TATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(640): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATAAATA TATAAATATATATATATTTATATATATATAAATATATATATATTTATAAA TATATAAATATATATATATTTATAAATATATAAATATATATAAAAATATA TATAAATATATAAAAAATATAAATATATATAAATATATAAATATATGTAA ATATATATAAATATATATATAAATATATATATAAATATATATATAAATAT ATATATATAAATATATATAAATATATAACTATATAAATAAATATATATAA ATATATAAATATATAAAAATATATATAAATATATATGTAAATATATAAAT ATATATAAATATATATAAATATATATAAGTATATAAATATATATAAATAT ATATAAGTATATAAATATATATATAAATATATATAAGTATATAAATATAT ATATAAATATATATAAGTATATAAATATATATAAATATATATAAGTATAT AAATATATATATAAATATATATAAGTATATATAAATATATATAAATATAT ATAAGTATATATAAATATATAAAAATATATATAAGTATATATAAATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03688.hp1 NA20905.hp1 HG03239.hp2 HG03688.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0003g0076 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0003g0076	3	264	0.0114	647	c.181 others(666): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATTTACATATATTTATATATTTATATATAT TTATATTTTTTATATATTTATATATATTTTTATATATATTTATATATTTA TAAATATATATATATTTATATATTTATAAATATATATATATTTATATATA TATAAATATATATATATTTATATATTTATAAATATATTTATATTTATATA TATTTACATATATATTTAGAATTACATATTTATATATATATTTATATTTA TATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(640): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATATATA TATAAATATATATATATTTATAAATATATAAATATATATATATTTATAAA TATATAAATATATATATATTTATAAATATATAAATATATATAAAAATATA TATAAATATATAAAAAATATAAATATATATAAATATATAAATATATGTAA ATATATATAAATATATATATAAATATATATATAAATATATATATAAATAT ATATATATAAATATATATAAATATATAACTATATAAATAAATATATATAA ATATATAAATATATAAAAATATATATAAATATATATGTAAATATATAAAT ATATATAAATATATATAAATATATATAAGTATATAAATATATATAAATAT ATATAAGTATATAAATATATATATAAATATATATAAGTATATAAATATAT ATATAAATATATATAAGTATATAAATATATATAAATATATATAAGTATAT AAATATATATATAAATATATATAAGTATATATAAATATATATAAATATAT ATAAGTATATATAAATATATAAAAATATATATAAGTATATATAAATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	264	0.0038	647	c.181 others(666): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATTTACATATATTTATATATTTATATATAT TTATATTTTTTATATATTTATATATATTTTTATATATATTTATATATTTA TAAATATATATATATTTATATATTTATAAATATATATATATTTATATATT TATAAATATATATATATTTATATATATATAAATATATTTATATTTATATA TATTTACATATATATTTAGAATTACATATTTATATATATATTTATATTTA TATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(640): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGCAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	344	0.0029	647	c.85- others(664): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTCCCTTCCT GCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCT CCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCC TTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232020	A A	ACCACTAC others(640): Show ACCACTACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTC ACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCA TTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACCACCCGCC CACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCA CCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCAT TACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	396	0.0025	647	c.513 others(664): Show c.513-1153_513-1152insTACCATTACTGCTGCCACCACTACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTAC TGTCACCACCACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCC ACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTG TCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCAC CATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTAC CCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTC ACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCA TTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCC CACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCAC TACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCTGCCCAC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
EIPR1_chr2_3183970_3382818	3221594	T T	TCGGGAAC others(640): Show TCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAG TGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTC ACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGC ACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTA GAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACAC TCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGT ACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCG AGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATG GCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACAC AATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGC ACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACAC ACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGA ACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02809.hp1 HG03453.hp1 others(1): Show HG02071.hp1 HG02809.hp1 HG03453.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0109 a0001c0001t0001g0159 a0001c0001t0001g0161 others(1): Show a0001c0001t0001g0109 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0002g0141	4	250	0.0160	647	c.417 others(664): Show c.417-7347_417-7346insCTCACTGTGAGTGCTCTAGAGTGTACCT CGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGT ACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGA GTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTC TAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGT GCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGT GAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCA CTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGA CTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTC CCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGT GTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGC GTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGT GTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCA TTGTGTGCGTGTGTTCCCG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EXOC2_chr6_480154_698139	519116	A A	AAACCACC others(640): Show AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCAACACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	272	0.0037	647	c.238 others(668): Show c.2380+13352_2380+13353insCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTG TCGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTG TCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTG TCGGCGCTCGGTGGGTGGTGGTTTTCGTCTCCGAGTGTGGACGGTGAGTG TCGGCGCTCGGTGGGTGGTGGTT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(640): Show TAATATATATATGGAATATATACGGAATATATATATAATATATATGGAAT ATATATATACGGAATATATATAATATATATACGGAATATATATATACGGA ATATATATAATATATATACGGAATATATATATAATATATATATAATATAT ATACGGAATATATATATAATATATAAATGGAATATATATACGGAATATAT ATATAATATATAAATGGAATATATATATACGGAATATATATATAATATAT AAATGGAATATATATATACGGAATATATATATAATATATATATGGAATAT ATATATACGGAATATATATATAATATATATATGGAATATATATATACGGA ATATATATATAATATATATATGGAATATATATATACGGAATATATATATT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATACGGAATATATATATATGGATATATATACGGAATATATATAT ATGGAATATATATATATGGAATGTGTATATATGGAATATATATATATGGA ATGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAATATA TATATGGAATGTGTATATATGGAATATATATATGGAATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0156 a0001c0001t0002g0151 a0001c0001t0002g0156	2	323	0.0062	647	c.-21 others(658): Show c.-2147_-2146insAATATATATATGGAATATATACGGAATATATATA TAATATATATGGAATATATATATACGGAATATATATAATATATATACGGA ATATATATATACGGAATATATATAATATATATACGGAATATATATATAAT ATATATATAATATATATACGGAATATATATATAATATATAAATGGAATAT ATATACGGAATATATATATAATATATAAATGGAATATATATATACGGAAT ATATATATAATATATAAATGGAATATATATATACGGAATATATATATAAT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATATACGGAATATATATATAATATATATATGGAATATATATATA CGGAATATATATATTATATATATGGAATATATATATACGGAATATATATA TAATATATATATGGAATATATATACGGAATATATATATATGGATATATAT ACGGAATATATATATATGGAATATATATATATGGAATGTGTATATATGGA ATATATATATATGGAATGTGTATATATGGAATATATATATATGGAATGTG TATATATGGAATATATATATGGAATGTGTATATATGGAATATATATATGG AATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323165	A A	ATATATAT others(640): Show ATATATATATGTGGAATATATATGTGGAATATATATATGGAATATATATG TGGAATATATATATATGGAATATGTATATATGGAATATATATATATGGAA TATATATACATGGAATATATATACATGGAATATATATACATGGAATATAT ATACATGGAATATATATACATGGAATATATATACATGGAATATATATACA TGGAATATATATACATGGAATATATATACATGGAATATATATACATGGAA TATATACATGGAATATATATACATGGAATATATACATGGAATGTATACAT GGAATATATATACATGGAATGTATACATGGAATATATATACATGGAATGT ATACATGGAATATATATATGGAATGTATACATATGGAATATATATATATG GAATGTATACATATGGAATATATATATGGAATGTATACATATGGAATATA TATATGGAATGTATACATATGGAATATATATATGGAATGTATACATATGG AATATATATATGGAATGTATACATATGGAATATATATATGGAATGTATAT ATATGGAATATATATATGGAATGTATATATATGGAATGTATATATATGGA ATGTATATATATGGAATGTATATATATGGAATGTATATATATGGAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	323	0.0031	647	c.-18 others(658): Show c.-1891_-1890insTATATATATGTGGAATATATATGTGGAATATATA TATGGAATATATATGTGGAATATATATATATGGAATATGTATATATGGAA TATATATATATGGAATATATATACATGGAATATATATACATGGAATATAT ATACATGGAATATATATACATGGAATATATATACATGGAATATATATACA TGGAATATATATACATGGAATATATATACATGGAATATATATACATGGAA TATATATACATGGAATATATACATGGAATATATATACATGGAATATATAC ATGGAATGTATACATGGAATATATATACATGGAATGTATACATGGAATAT ATATACATGGAATGTATACATGGAATATATATATGGAATGTATACATATG GAATATATATATATGGAATGTATACATATGGAATATATATATGGAATGTA TACATATGGAATATATATATGGAATGTATACATATGGAATATATATATGG AATGTATACATATGGAATATATATATGGAATGTATACATATGGAATATAT ATATGGAATGTATATATATGGAATATATATATGGAATGTATATATATGGA ATGTATATATATGGAATGTATATATATGGAATGTATATATATGGAATGTA TATATATGGAATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1804		chr21	TogoVar
KIAA0930_chr22_45187244_45245894	45228863	C C	CCACCAAA others(640): Show CCACCAAACACTCACCCGAGAGATCCCTCTCCACCCCCCAACCACCAAAC ACTCACCTGAGAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCCG AGAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCC TCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCC CCCAACCACCAAACACTCACCCGAGAGATCCCTCTCCACCCCCCAACCAC CAAACACTCACCTGAGAGATCCCTCTCCACCCCCCAACCACCAAACACTC ACCCGAGAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAG ATCCCTCTCCACCCCCCAACCACCAAACACTCACCCGAGAGATCCCTCTC CACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCCA ACCACCAAACACTCACCCGAGAGATCCCTCTCCACCCCCCAACCACCAAA CACTCACCCGAGAGATCCCTCTCCACCCCCCAACCACTCACCTGAGAGAT CCCTCTCCACCCCCCCACCAAACACTCACCCGAGAGATCCCTCTCCACCC CGCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0049 a0001c0001t0018g0049	1	398	0.0025	647	c.64+ others(664): Show c.64+11776_64+11777insATGGCGGGGGTGGAGAGGGATCTCTCAG GTGAGTGTTTGGTGGTTGCGGGGTGGAGAGGGATCTCTCGGGTGAGTGTT TGGTGGGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGGGGGTGGAG AGGGATCTCTCGGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTC TCGGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCTCAGGTGAG TGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCTCGGGTGAGTGTTTGGTG GTTGGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGG TGGAGAGGGATCTCTCGGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGG ATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCTCGG GTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTT TGGTGGTTGGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTG GGGGGTGGAGAGGGATCTCTCGGGTGAGTGTTTGGTGGTTGGGGGGTGGA GAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCT CTCGGGTGAGTGTTTGGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KLHDC4_chr16_87702812_87770986	87738936	C C	CACACCAG others(640): Show CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAG CACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCA CCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCCC ATCCATCCACACACCAGCACCTCATCCATCCACACACCAGTATCTCAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0037 a0002c0002t0001g0037	1	380	0.0026	647	c.507 others(664): Show c.507-8293_507-8292insATGAGATACTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGT GTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGG TGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGT GCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGG ATGGATGAGGTGCTGGTGT	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87738936	C C	CACACCAG others(640): Show CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAG CACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACA CACCAGCATCTCATCCATCCACACACCAGCACCTCATCCATCCACACACC AGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCA CCTCATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTC ATCCATCCACACACCAGTATCTCATCCACACACCAGCACCTCATCCAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03710.hp2 HG03688.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0165 a0002c0002t0002g0200 a0002c0002t0002g0165 a0002c0002t0002g0200	2	380	0.0053	647	c.507 others(664): Show c.507-8293_507-8292insATGGATGAGGTGCTGGTGTGTGGATGAG ATACTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGGGATGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGG TGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGT GCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGG ATGGATGAGGTGCTGGTGT	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KREMEN1_chr22_29068035_29151820	29120084	T T	TGGAGGAG others(640): Show TGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGA AGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGG TGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGG GAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGG AGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAA ACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATG ATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAG AGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATAATGGAAACAGGGAGG AGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAA TGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGA AGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGG TGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGG GAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0265 a0001c0001t0016g0265	1	368	0.0027	647	c.353 others(664): Show c.353-1247_353-1246insCAGGGAGGAGGGAGAGGTGATGAAGGAA ATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATG AAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAG GTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAG GGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGG GAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGA AACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTG ATGAAGGAAATGGAGGAGGGAGAGGTGATAATGGAAACAGGGAGGAGGGA GAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAG GAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAA ATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATG AAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAG GTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAG GGAGAGGTGATGAAGGAAA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LHFPL3_chr7_104323603_104913561	104824213	T T	TATAATAT others(640): Show TATAATATATATATTATATATTATATATATAATATATATTATATATTATA TATATAATATATATTATATTATATATAATATATTATATATTATATATATA ATATATTATATATTATATATATAATATATTATATATTATATATTATATAT ATTATATTATATATTATATATAATTATATATATTTATATATTATTATATA TATTATATATTATATATTATATATATTATATATTATATATTATATATTAT ATATATTATATATTATATATACAATTATATATATTATATATATTATATAT TATATAATATATTATATATATAATATATATTATATATTTATTATTATATA ATATATTATATATATATAATATATATATATTATATATTATATAATATATT ATATATTATATATATTATATATTATATATTATATATTATATATATAATAT ATATTATATATTATATATTATATATATTATATATATTATATATATTATAT ATAATATATATAATTGTATATATAATATATAATATATAATATATAATATA TAATATATAATATATAATATATAATATATATAATATATTATATATAATAT ATAATATATAATATATATAATATATTATATATAATATATAATATATAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	86	0.0116	647	c.683 others(666): Show c.683-81974_683-81973insATAATATATATATTATATATTATATA TATAATATATATTATATATTATATATATAATATATATTATATTATATATA ATATATTATATATTATATATATAATATATTATATATTATATATATAATAT ATTATATATTATATATTATATATATTATATTATATATTATATATAATTAT ATATATTTATATATTATTATATATATTATATATTATATATTATATATATT ATATATTATATATTATATATTATATATATTATATATTATATATACAATTA TATATATTATATATATTATATATTATATAATATATTATATATATAATATA TATTATATATTTATTATTATATAATATATTATATATATATAATATATATA TATTATATATTATATAATATATTATATATTATATATATTATATATTATAT ATTATATATTATATATATAATATATATTATATATTATATATTATATATAT TATATATATTATATATATTATATATAATATATATAATTGTATATATAATA TATAATATATAATATATAATATATAATATATAATATATAATATATAATAT ATATAATATATTATATATAATATATAATATATAATATATATAATATATTA TATATAATATATAATATATAA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LHPP_chr10_124456823_124619141	124471627	T T	TATGTATT others(640): Show TATGTATTTATATATATATTTATATATATATTTATATATATTTATATATA TTTATATATATATTTATATATATTTATATATATATATTTATATATATTTA TATATATATTTTTATATATATTTATATATATTTTTATATATAGTTATATA TATTTATATATAGTTATATATATTTATGTATAGTTATATATAGTTATGTA TAGTTATATATAGTTATATATATAGTTATATATAGTTATATATATAGTTA TATATATATTTTTATATATATTTATATATATATATTTTTATATATATATT TATATATATATTTATATATATATTTATATATATTTATATATATATTTATA TATATATTTATATATATAAATATATATATTTATATATATATTTATATATA TAAATATATATATAAATATATATATTTATATATATATTTATATATTTATA TATGTATTTATATATATTTATATATGTATTTATATATATTTATATATATT TATATGTATTTATATATATTTATATATATTTATATATATAAATATAAATA TATTTATATATATAAATATAAATATATTTATATATAAATATATTTATATA TATTTATATAAATATATTTATGTATATTTATATATATTTATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	260	0.0039	647	c.125 others(664): Show c.125+9640_125+9641insATGTATTTATATATATATTTATATATAT ATTTATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATATTTATATATATTTATATATATATTTTTATATATATTTATATAT ATTTTTATATATAGTTATATATATTTATATATAGTTATATATATTTATGT ATAGTTATATATAGTTATGTATAGTTATATATAGTTATATATATAGTTAT ATATAGTTATATATATAGTTATATATATATTTTTATATATATTTATATAT ATATATTTTTATATATATATTTATATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATATTTATATATATAAATATATATAT TTATATATATATTTATATATATAAATATATATATAAATATATATATTTAT ATATATATTTATATATTTATATATGTATTTATATATATTTATATATGTAT TTATATATATTTATATATATTTATATGTATTTATATATATTTATATATAT TTATATATATAAATATAAATATATTTATATATATAAATATAAATATATTT ATATATAAATATATTTATATATATTTATATAAATATATTTATGTATATTT ATATATATTTATATATATA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
MED27_chr9_131855112_132084867	131964326	G G	GAGGTGAT others(640): Show GAGGTGATGGTGGTGGTGGTGCTGGTGATGGTGGTGGTGATGGTGGTGGG GGGTGGTGGTGGGGATGGAGGTGGTGATGGTGATGGTGGTGGTGGAGGTG CTGGTGGTAGAGGTTATGGTGGTGGTGGTGATGGTGGGGGTGGAGGTGAT GGTGATAGAGGTGATGGTGATGGTGGTGGTGGGGGTGATGGTGACAGGAG GTGGTGGCGATGATGGAAATGATGGTGGTAGTGAAGGTGATGGTGGTGGT GGTGATGGTAGTCGAGGTGATGGTGGTAGTGATGGTGGTGGTGGTGGAGG TGATGGTAGTGGAGGTGATGGTGGTGGAGATGATCATGATGGTGGTGGTG GTGATGGTGGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGA GGTGATGGTAATGGTGGAGGTGATGGTGGTGATGGTGGTAGTGAAAGTGA TGGTGGTGATGGTGGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTG GTGATGGCAGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGA GGTGATGGTAGAGGTGATGGTAATGGTGGAGGTGATGGTGGTGATGATGG TGGTAGTGAAAGTGATGGTGGTGATGGTTGAGGGTGTGGTGGTAGTGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01256.hp2 HG01433.hp2 others(2): Show HG01109.hp2 HG01256.hp2 HG01433.hp2 HG02258.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 others(2): Show a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227	5	274	0.0183	647	c.480 others(666): Show c.480-24853_480-24852insTCACTACCACCACACCCTCAACCATC ACCACCATCACTTTCACTACCACCATCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCTGCCATCACCACCACCACCATCACCTTCACTACCACC ACACCCTCCACCATCACCACCATCACTTTCACTACCACCATCACCACCAT CACCTCCACCATTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCCACCATCACCACCACCACCATCATGATCATCTCCACC ACCATCACCTCCACTACCATCACCTCCACCACCACCACCATCACTACCAC CATCACCTCGACTACCATCACCACCACCACCATCACCTTCACTACCACCA TCATTTCCATCATCGCCACCACCTCCTGTCACCATCACCCCCACCACCAC CATCACCATCACCTCTATCACCATCACCTCCACCCCCACCATCACCACCA CCACCATAACCTCTACCACCAGCACCTCCACCACCACCATCACCATCACC ACCTCCATCCCCACCACCACCCCCCACCACCATCACCACCACCATCACCA GCACCACCACCACCATCACCT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(640): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGCCCC CCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCT CCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGC CCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCT CCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGG GCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCCTGGCG AGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCC CCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0003 a0012c0016t0003	a0012c0016t0003g0180 a0012c0016t0003g0180	1	292	0.0034	647	c.218 others(662): Show c.2189-97_2189-96insAGGCGTGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGG GGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCG CCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGGGGGGGCACACTCGCCAGGAGCCTATGTGAGGCACAG GGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGTGGGGGGCACACTCG CCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCTATGTGAGGCA CAGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCAC ACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCC CATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGG GGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGGGGGGCACACTCGC CAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MLPH_chr2_237482251_237560322	237542778	G G	GGTGAGTG others(640): Show GGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGT AGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGCAC AGTGGTGAGTGGAGACAGTGGTGAGTTGGGGGACAGTAGTGAGTGGGGGG ACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGAGACAGTGGTGAGTGGGG ACAGTGGTGAGTGGGGGTACAGTGGTGAGTGGGCACAGTAGTGAGTAGGG GGACAGTGGTGAATGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGG GGGCACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGT GGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGA GGGGACAGTAGTGAGTAGGGGACAGTGGTGAGTTGGGGCACAGTGGTGAG TGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGA GTGGGGGGACAGTGGTGAGTGGGCATGGTAGTGAGTGGGGGGACAGTGGT GAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTGGGCATGGTA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0096	1	286	0.0035	647	c.153 others(664): Show c.1539+129_1539+130insACAGTGGTGAGTGGGGGGACAGTGGTGA GTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTG AGTGGGGGCACAGTGGTGAGTGGAGACAGTGGTGAGTTGGGGGACAGTAG TGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGAGACAGT GGTGAGTGGGGACAGTGGTGAGTGGGGGTACAGTGGTGAGTGGGCACAGT AGTGAGTAGGGGGACAGTGGTGAATGGGGGACAGTGGTGAGTGGGGGACA GTGGTGAGTGGGGGCACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGCA CGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGG GACAGTGGTGAGGGGACAGTAGTGAGTAGGGGACAGTGGTGAGTTGGGGC ACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGG ACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGG GACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCATGGTAGTGAGTGGG GGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTG GGCATGGTAGTGAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(640): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCTCCCCTCCCCTCTTCCCCTCCTCCCCTCCTCCCCTC TCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCCTCCTCCCCTCCCCTCCCCTCCTCCT CTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCC TCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0069 a0003c0003t0001g0069	1	140	0.0071	647	c.114 others(666): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCTTC CCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCC TCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCT CCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCC TCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCT CCCCTCCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(640): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTAACCCGGCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	394	0.0025	647	c.-8+ others(660): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCGGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(640): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTAACCCGGCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCACCGGCTCTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	394	0.0025	647	c.-8+ others(660): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGTGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(640): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTAACCCGGCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(44): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00673.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp2 HG01257.hp1 HG01261.hp2 HG01516.hp2 HG01952.hp1 HG01975.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG02129.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02896.hp2 HG03017.hp1 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp2 HG04228.hp1 NA18939.hp2 NA18952.hp1 NA18966.hp2 NA18998.hp2 NA19074.hp1 NA19079.hp1 NA19088.hp1 NA19089.hp2 NA19240.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 others(2): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0008c0011t0002	a0001c0001t0002g0002 a0001c0001t0002g0030 a0001c0001t0002g0176 others(6): Show a0001c0001t0002g0002 a0001c0001t0002g0030 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0010g0021 a0001c0001t0012g0181 a0001c0001t0013g0177 a0008c0011t0002g0180	47	394	0.1193	647	c.-8+ others(660): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(640): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCTGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTAACCCGGCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	394	0.0025	647	c.-8+ others(660): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCAGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(640): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCGCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTAACCCGGCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	394	0.0025	647	c.-8+ others(660): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGCGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(640): Show GCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCTCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0152 a0001c0010t0001g0152	1	394	0.0025	647	c.-8+ others(660): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGG GGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGT AGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGC CGGGGGCCGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
NFILZ_chr19_8625633_8686151	8656420	C C	CTTCTCTC others(640): Show CTTCTCTCTGAAGCCCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCC CCCTTCTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCCTACA GCCCACCTTGTGCACAAAGCCAGTGTTCTCCCTGCAGCCCACCTTCTCCC AGAAACCCTCCTGCCTTCTCCACGCAGCCCATCTTCTCTCTGAAGCCCAC CTTCTCCCCACAGCCCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCC CCCTTCTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCCTGAA GCCCACCTCCTCCCACAGCCCACCTCCTCCCTGAAGCCCACCTTCTCTCT GAAGCCCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCCCCCTTCTTC CTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCCTACAGCCCACCTT GTGCACAAAGCCAGTGTTCTCCCTGCAGCCCACCTTCTCCCAGAAACCCT CCTGCCTTCTCCACGCAGCCCATCTTCTCTCTGAAGCCCACCTTCTCCCC ACAGCCCACCTCCTCCCGCAGCCCACCTCCTCCCTGAAGCCCACCTCCTC CCACAGCCCACCTCCTCCCTGAAGCCCACCTCCTCCCTGAAGCCCCCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03492.hp2 HG02735.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0005 a0001c0001t0014	a0001c0001t0005g0322 a0001c0001t0014g0233 a0001c0001t0005g0322 a0001c0001t0014g0233	2	366	0.0055	647	c.-16 others(668): Show c.-163-18130_-163-18129insTCTCTCTGAAGCCCACCTCCTCCC GCAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTC CCTGAAGCCCACCTTCTCCCTACAGCCCACCTTGTGCACAAAGCCAGTGT TCTCCCTGCAGCCCACCTTCTCCCAGAAACCCTCCTGCCTTCTCCACGCA GCCCATCTTCTCTCTGAAGCCCACCTTCTCCCCACAGCCCACCTCCTCCC GCAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTC CCTGAAGCCCACCTTCTCCCTGAAGCCCACCTCCTCCCACAGCCCACCTC CTCCCTGAAGCCCACCTTCTCTCTGAAGCCCACCTCCTCCCGCAGCGCAC CTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCCCTGAAGCC CACCTTCTCCCTACAGCCCACCTTGTGCACAAAGCCAGTGTTCTCCCTGC AGCCCACCTTCTCCCAGAAACCCTCCTGCCTTCTCCACGCAGCCCATCTT CTCTCTGAAGCCCACCTTCTCCCCACAGCCCACCTCCTCCCGCAGCCCAC CTCCTCCCTGAAGCCCACCTCCTCCCACAGCCCACCTCCTCCCTGAAGCC CACCTCCTCCCTGAAGCCCCCTT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NKAIN2_chr6_123798865_124830640	124687566	T T	TATATTCC others(640): Show TATATTCCATACATATACATACATGGTATATATTCCATATATACATACAT GGTATATATTCCTATATATACATACATGGTATATATTCCATATATATACA TACATGGTATATATTCCATATATATATACACATACATGGTATATATTCCA TATATATATACACATACATGGTATATATTCCATATATACATACATGGTAT ATATTCCTATATATACATACATGGTATATATTCCTATATATACATACATG GTATATATTCCATATATATACATACATGGTATATATTCCATATATATATA CATACATGGTATATATTCCATATATATACATACATGGAATATATATATTC CATACATGGAATATATATATTCCATATATACATATATATATTCCATATAT ACACATATATATATTCCATATATACACATATACATGGAATATATATCTGT ATATATATGGAATATATATATGTATATATATGAAATATATATGTATATGT ATTTATATTATGTATTTATATTATAAATATATATTATGTATATATATTTA TATTATAAATATATATTATGTATATATATTTATAATATAAATATATATTA TGTATATATATTTATATTATAAATATATATTATGTATATATATTTATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03540.hp2 HG01346.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0004 a0001c0001t0001g0011	2	66	0.0303	647	c.474 others(666): Show c.474+29184_474+29185insTCCATACATATACATACATGGTATAT ATTCCATATATACATACATGGTATATATTCCTATATATACATACATGGTA TATATTCCATATATATACATACATGGTATATATTCCATATATATATACAC ATACATGGTATATATTCCATATATATATACACATACATGGTATATATTCC ATATATACATACATGGTATATATTCCTATATATACATACATGGTATATAT TCCTATATATACATACATGGTATATATTCCATATATATACATACATGGTA TATATTCCATATATATATACATACATGGTATATATTCCATATATATACAT ACATGGAATATATATATTCCATACATGGAATATATATATTCCATATATAC ATATATATATTCCATATATACACATATATATATTCCATATATACACATAT ACATGGAATATATATCTGTATATATATGGAATATATATATGTATATATAT GAAATATATATGTATATGTATTTATATTATGTATTTATATTATAAATATA TATTATGTATATATATTTATATTATAAATATATATTATGTATATATATTT ATAATATAAATATATATTATGTATATATATTTATATTATAAATATATATT ATGTATATATATTTATAATAT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(640): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCG TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGA GCCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCC CCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCC AGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCC CACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAG AGCCCGAGTCCGTCCCCACAGAGCCCCCACTCCCTCCCCACAGAGCCCCC AAGTCCGTCCCCACAGGCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCC CCCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCC CACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp1 others(96): Show HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01192.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02630.hp2 HG02735.hp1 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02970.hp1 HG03017.hp2 HG03130.hp1 HG03225.hp1 HG03579.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18943.hp1 NA18945.hp2 NA18950.hp2 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18964.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18982.hp1 NA18985.hp1 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA20129.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0007 a0009 a0011 a0014 a0015 a0018 a0024 a0029 a0033	a0001c0001 a0001c0002 a0001c0003 others(23): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0012 a0001c0013 a0001c0023 a0001c0026 a0001c0046 a0001c0069 a0002c0010 a0003c0015 a0005c0054 a0007c0022 a0009c0048 a0011c0031 a0014c0055 a0015c0062 a0018c0033 a0024c0035 a0029c0041 a0033c0053	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0032 a0001c0001t0034 a0001c0002t0010 a0001c0003t0001 a0001c0004t0003 a0001c0004t0005 a0001c0004t0010 a0001c0005t0009 a0001c0005t0010 a0001c0006t0003 a0001c0006t0007 a0001c0008t0001 a0001c0008t0003 a0001c0008t0008 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0001c0013t0003 a0001c0013t0004 a0001c0013t0031 a0001c0023t0003 a0001c0026t0001 a0001c0046t0001 a0001c0069t0010 a0002c0010t0001 a0002c0010t0002 a0003c0015t0001 a0005c0054t0023 a0007c0022t0004 a0009c0048t0007 a0011c0031t0008 a0014c0055t0001 a0015c0062t0029 a0018c0033t0007 a0024c0035t0003 a0029c0041t0001 a0033c0053t0001	a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0201 others(95): Show a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0201 a0001c0001t0001g0213 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0256 a0001c0001t0001g0267 a0001c0001t0001g0303 a0001c0001t0001g0315 a0001c0001t0002g0133 a0001c0001t0003g0003 a0001c0001t0003g0189 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0225 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0247 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0296 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0305 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0004g0157 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0007g0212 a0001c0001t0007g0215 a0001c0001t0007g0216 a0001c0001t0007g0217 a0001c0001t0007g0227 a0001c0001t0007g0239 a0001c0001t0007g0262 a0001c0001t0007g0274 a0001c0001t0007g0301 a0001c0001t0007g0306 a0001c0001t0011g0132 a0001c0001t0011g0153 a0001c0001t0032g0194 a0001c0001t0034g0321 a0001c0002t0010g0250 a0001c0002t0010g0302 a0001c0003t0001g0249 a0001c0004t0003g0316 a0001c0004t0003g0317 a0001c0004t0005g0155 a0001c0004t0005g0156 a0001c0004t0010g0196 a0001c0004t0010g0270 a0001c0005t0009g0246 a0001c0005t0010g0278 a0001c0005t0010g0279 a0001c0006t0003g0234 a0001c0006t0007g0277 a0001c0008t0001g0273 a0001c0008t0003g0314 a0001c0008t0008g0025 a0001c0011t0001g0260 a0001c0011t0001g0261 a0001c0011t0001g0264 a0001c0011t0001g0266 a0001c0012t0001g0263 a0001c0013t0001g0231 a0001c0013t0003g0226 a0001c0013t0004g0154 a0001c0013t0031g0238 a0001c0023t0003g0192 a0001c0026t0001g0202 a0001c0046t0001g0198 a0001c0069t0010g0268 a0002c0010t0001g0187 a0002c0010t0002g0152 a0002c0010t0002g0158 a0002c0010t0002g0159 a0002c0010t0002g0160 a0002c0010t0002g0161 a0002c0010t0002g0162 a0003c0015t0001g0190 a0003c0015t0001g0265 a0003c0015t0001g0297 a0005c0054t0023g0134 a0007c0022t0004g0175 a0009c0048t0007g0214 a0011c0031t0008g0026 a0014c0055t0001g0269 a0015c0062t0029g0179 a0018c0033t0007g0197 a0024c0035t0003g0258 a0029c0041t0001g0259 a0033c0053t0001g0203	99	324	0.3056	647	c.140 others(664): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCT GTGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTTGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTG GGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGG CTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(640): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCG TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGA GCCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCC CCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCC AGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCC CACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAG AGCCCGAGTCCGTCCCCACAGAGCCCCCACTCCCTCCCCACAGAGCCCCC AAGTCCGTCCCCACAGGCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCC CCCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCC CACAGAGCCCCTGAGTCTGTCCCCACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0313 a0001c0006t0003g0313	1	324	0.0031	647	c.140 others(664): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCAGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCT GTGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTTGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTG GGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGG CTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(640): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCG TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGA GCCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCC CCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCC AGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCC CACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAG AGCCGAGTCCGTCCCCACAGAGCCCCCACTCCCTCCCCACAGAGCCCCCA AGTCCGTCCCCACAGGCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC CCCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCC CACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0245 a0001c0004t0009g0245	1	324	0.0031	647	c.140 others(664): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTG GGGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCT CTGTGGGGACGGACTCGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCT GTGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTTGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTG GGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGG CTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(640): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCG TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGA GCCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCC CCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCC AGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCC CACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAG AGCCTGAGTCCGTCCCCACAGAGCCCCCACTCCCTCCCCACAGAGCCCCC AAGTCCGTCCCCACAGGCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCC CCCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCC CACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0244 a0001c0004t0009g0244	1	324	0.0031	647	c.140 others(664): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCAGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCT GTGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTTGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTG GGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGG CTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(640): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCG TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGA GCCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCC CCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCC AGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCCAGTCCTTCCCCACAGAGCCCCCGAGTCCCTCCC CACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAG AGCCCGAGTCCGTCCCCACAGAGCCCCCACTCCCTCCCCACAGAGCCCCC AAGTCCGTCCCCACAGGCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCC CCCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCC CACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02630.hp1 NA18952.hp1 others(2): Show HG00673.hp1 HG02630.hp1 NA18952.hp1 NA18980.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0011 a0001c0001 a0001c0008 a0001c0011	a0001c0001t0001 a0001c0001t0033 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0033 a0001c0008t0001 a0001c0011t0001	a0001c0001t0001g0257 a0001c0001t0033g0307 a0001c0008t0001g0208 others(2): Show a0001c0001t0001g0257 a0001c0001t0033g0307 a0001c0008t0001g0208 a0001c0011t0001g0284 a0001c0011t0001g0285	5	324	0.0154	647	c.140 others(664): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAAGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCT GTGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTTGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTG GGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGG CTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCAACC others(640): Show CCCCAACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTAACCCGGCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	376	0.0027	647	c.15 others(658): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTTGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(640): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTAACCCGGCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(46): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00673.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01167.hp2 HG01257.hp2 HG01261.hp2 HG01516.hp2 HG01952.hp2 HG01975.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp2 HG02129.hp1 HG02145.hp2 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02896.hp1 HG03017.hp1 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp1 NA18939.hp1 NA18966.hp2 NA18998.hp1 NA19074.hp2 NA19079.hp1 NA19088.hp2 NA19089.hp1 NA19240.hp2 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0014 a0019	a0001c0001 a0002c0002 a0002c0005 others(5): Show a0001c0001 a0002c0002 a0002c0005 a0002c0010 a0003c0003 a0005c0015 a0014c0030 a0019c0022	a0001c0001t0004 a0002c0002t0001 a0002c0002t0004 others(7): Show a0001c0001t0004 a0002c0002t0001 a0002c0002t0004 a0002c0005t0001 a0002c0010t0001 a0003c0003t0001 a0003c0003t0004 a0005c0015t0001 a0014c0030t0004 a0019c0022t0001	a0001c0001t0004g0055 a0001c0001t0004g0056 a0002c0002t0001g0006 others(26): Show a0001c0001t0004g0055 a0001c0001t0004g0056 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0012 a0002c0002t0001g0132 a0002c0002t0001g0136 a0002c0002t0001g0161 a0002c0002t0004g0048 a0002c0005t0001g0169 a0002c0010t0001g0036 a0003c0003t0001g0002 a0003c0003t0001g0034 a0003c0003t0001g0108 a0003c0003t0001g0109 a0003c0003t0001g0110 a0003c0003t0001g0146 a0003c0003t0001g0148 a0003c0003t0001g0151 a0003c0003t0001g0154 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0004g0007 a0003c0003t0004g0100 a0005c0015t0001g0141 a0014c0030t0004g0091 a0019c0022t0001g0156	49	376	0.1303	647	c.15 others(658): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(640): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCTGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTAACCCGGCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0018 a0018	a0018c0020 a0018c0020	a0018c0020t0001 a0018c0020t0001	a0018c0020t0001g0131 a0018c0020t0001g0131	1	376	0.0027	647	c.15 others(658): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCAGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(640): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCGCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTAACCCGGCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0134 a0002c0002t0001g0134	1	376	0.0027	647	c.15 others(658): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGCGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(640): Show GCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCTCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0166 a0004c0006t0001g0166	1	376	0.0027	647	c.15 others(658): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(640): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTG TGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGG TGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGA GTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGG GGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACT GAGTCTGGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGG GGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCAC TGAGTCTGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGG CGGGGCGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGCGTGGGGATG CACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18999.hp2 NA19011.hp2 NA18962.hp1 NA18999.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0083 a0001c0002t0001g0116 a0001c0002t0001g0078 a0001c0002t0001g0083 a0001c0002t0001g0116	3	282	0.0106	647	c.299 others(662): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCA GTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCCCCCTCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACT CAGTGCATCCCCACACCCCCCCCTCCCCAGACTCAGTGCATCCCCACGCC CCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGAC TCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACA CCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAG ACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCA CACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCC AGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCC CACGCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCC CCAGACTCAGTGCATCCCCATGCCCCGCCCTCTCCCCAGACTCAGTGCAT CCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar

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