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
MYRIP_chr3_39804609_40265321	40084638	T T	TATATCGA others(589): Show TATATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATAC ACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTA TCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACAT CTATGTATTATCTATCGATAGATAATACACATCTATGTATTATATATCGA TAATACACATCTATGTATTATATATCGATAATACACATCTATGTATTATA TATCGATAATACACATCTATGTATTATATATCGATAGATAATACACATCT ATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATA GATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGT ATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATA ATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTA TCTATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTAC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	134	0.0075	596	c.332 others(615): Show c.332+40376_332+40377insGATAATACACATCTATGTATTATCTA TCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACAT CTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGA TAGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTAT GTATTATATATCGATAATACACATCTATGTATTATATATCGATAATACAC ATCTATGTATTATATATCGATAATACACATCTATGTATTATATATCGATA GATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGT ATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATA ATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTA TATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTACATATCGATA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084638	T T	TATATCGA others(589): Show TATATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATAC ACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTA TCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACAT CTATGTATTATCTATCGATAGATAATACACATCTATGTATTATATATCGA TAATACACATCTATGTATTATATATCGATAATACACATCTATGTATTATA TATCGATAATACACATCTATGTATTATATATCGATATATAATACACATCT ATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATA GATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGT ATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATA ATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTA TATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTAC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0130 a0003c0007t0001g0130	1	134	0.0075	596	c.332 others(615): Show c.332+40376_332+40377insGATAATACACATCTATGTATTATCTA TCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACAT CTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGA TAGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTAT GTATTATATATCGATAATACACATCTATGTATTATATATCGATAATACAC ATCTATGTATTATATATCGATAATACACATCTATGTATTATATATCGATA TATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGT ATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATA ATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTA TATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTACATATCGATA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175670512	A A	AATTTATA others(589): Show AATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAA TGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATA TATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAA TTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATG TAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATA TTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATT TATATTAAATGTAAATTTAATATATTTATATTAAATGTAAATTTAATATA TTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATT TATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTA AATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATATT TATATTAAATTTATATTAAATGTAAAATTAATATATTTATATTAAATTTA TATTAAATGTAAAATTAATATATTTATATTAAATGTAAAATTAATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0019 a0003c0005t0007g0019	1	4	0.2500	596	c.189 others(617): Show c.1896+43150_1896+43151insATATTTATATTAAATTTATATTAA ATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAAT ATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAA ATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAAT GTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATAT ATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAAT TTATATTAAATGTAAATTTAATATATTTATATTAAATGTAAATTTAATAT ATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAAT TTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGT AAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATAT TTATATTAAATTTATATTAAATGTAAAATTAATATATTTATATTAAATTT ATATTAAATGTAAAATTAATATATTTATATTAAATGTAAAATTAATATAT TTATATTAAATGTAAATTTAAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEU4_chr2_241804193_241822413	241805963	T T	TCTGCAGG others(589): Show TCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGC CCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCTCAGCCCAGGGA CCTCCGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCTCAACCCAGGAACCTCTGCAGGCCACCCTCCCTCC CTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0005 a0002c0003t0002g0005	1	247	0.0040	596	c.-33 others(607): Show c.-3315_-3314insCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCTC AACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC TCCTCAGCCCAGGGACCTCCGCAGGCCACTCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGAACCTCTGCA GGCCACCCTCCCTCCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCA ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCAC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3229		chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(589): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATA CACAGTATGTATACTGTGTATGCAGTATGTATACAGTATACATACTGCAT GCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATATA TACACTATACAGTATGTATACTGTATATATACACTATACAGTATGTATAC TGTATATATACACACAGTATGTATACTGTATATATACACACAGTATGTAT ACTGTATATATACACACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0342 a0001c0001t0002g0342	1	118	0.0085	596	c.-75 others(615): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACA GTATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTA TGTATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGC ATACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACATACAGTATACATACATAC AGTATACATACATACAGTATACATGCTGTACACAGTATACATGCTGTACA CAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NRIP1_chr21_14956235_15070000	15031069	G G	GTGTATAC others(589): Show GTGTATACACTCTGGAAGGTGTTCAGAGGTTCACCACATTCCCTTTCTAT GTGTATACTCTGGAAGGCGGTTGGAGGTTCACTACATTCCCTTTCTATGT GTATACACTCTGGAAGGCGCACGGAGGATCACCACATTCCCTTTCTATGT GTGTACACTCTGGAAGGCGTTCAGAGGTTCACCACATTCCCTTTCTATGT GTATACACTCTGGAAGGTGGTTGGAGGTTCACCACATTCCCTTTCTATGT GTATACACTCTGGAAGGCGGTTGGAGGTTCACCACATTCCCTTTCTATGT GTATACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTGTGT GTATACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTATGT GTATACACTCTGGAAGGTGTTCAGAGGTTCACCACATTCCCTTTCTATGT GTGTACACTCTGGAAGGCGCTCGGAGGGTCACTACATTCCCTTTCTATGT GTGTACACTCTGGAAGGCACTCAGAGGATCACCACATTCCCTTTCTATGT GTATACACTCTGGAAGGTGTTCAGAGGTTCACCACATTCCCTTTCTA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0163 a0001c0002t0047g0163	1	396	0.0025	596	c.-45 others(617): Show c.-458+12425_-458+12426insTAGAAAGGGAATGTGGTGAACCTC TGAACACCTTCCAGAGTGTATACACATAGAAAGGGAATGTGGTGATCCTC TGAGTGCCTTCCAGAGTGTACACACATAGAAAGGGAATGTAGTGACCCTC CGAGCGCCTTCCAGAGTGTACACACATAGAAAGGGAATGTGGTGAACCTC TGAACACCTTCCAGAGTGTATACACATAGAAAGGGAATGTGGTGATCCTC CGAGCGCCTTCCAGAGTGTATACACACAGAAAGGGAATGTGGTGATCCTC CGAGCGCCTTCCAGAGTGTATACACATAGAAAGGGAATGTGGTGAACCTC CAACCGCCTTCCAGAGTGTATACACATAGAAAGGGAATGTGGTGAACCTC CAACCACCTTCCAGAGTGTATACACATAGAAAGGGAATGTGGTGAACCTC TGAACGCCTTCCAGAGTGTACACACATAGAAAGGGAATGTGGTGATCCTC CGTGCGCCTTCCAGAGTGTATACACATAGAAAGGGAATGTAGTGAACCTC CAACCGCCTTCCAGAGTATACACATAGAAAGGGAATGTGGTGAACCTCTG AACACCTTCCAGAGTGTATACA	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NTM_chr11_131365615_132341822	131681036	T T	TGTGTGTT others(589): Show TGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTG TGTTTCTGTGTCTGTCTCCCTGTGTGTGTGAGCATGTGTGTTTCTGTCTG TATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATG TCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATATCTC CCTGTGTATGTGAGCTTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTG TGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGCA TGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGAGCGTGTGTGTTTC TGTGTCTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTG TGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTATG TCTCCCTGTGTGTGAGCATGTGTGTTTCTGTGTCTGTATGTCTCCCTGTT TGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTG TGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	78	0.0128	596	c.83- others(615): Show c.83-230510_83-230509insGTGTATGTCTCCCTGTGTGTGTGAGC GTGTGTGTTTCTGTGTCTGTCTCCCTGTGTGTGTGAGCATGTGTGTTTCT GTCTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGT GTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTAT ATCTCCCTGTGTATGTGAGCTTGTTTCTGTGTCTGTGTGTATGTCTCCCT GTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGT GAGCATGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGAGCGTGTGT GTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGT GTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCT GTATGTCTCCCTGTGTGTGAGCATGTGTGTTTCTGTGTCTGTATGTCTCC CTGTTTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGT GTGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGA GCGTGTGTTTCTGTGTCTGT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(589): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	596	c.-26 others(607): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTC TATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTA TCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATC GATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTA TCTATAGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATA TGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(589): Show GCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTC ACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCCCTATCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCC CGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 NA18950.hp2 NA18960.hp1 others(2): Show HG02647.hp1 NA18950.hp2 NA18960.hp1 NA18970.hp1 NA19057.hp2	a0002 a0013 a0002 a0013	a0002c0002 a0013c0016 a0002c0002 a0013c0016	a0002c0002t0001 a0013c0016t0001 a0002c0002t0001 a0013c0016t0001	a0002c0002t0001g0004 a0002c0002t0001g0073 a0013c0016t0001g0078 a0002c0002t0001g0004 a0002c0002t0001g0073 a0013c0016t0001g0078	5	9	0.5556	596	c.15 others(607): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGG GTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCG GGATAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG GCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PHF2_chr9_93571584_93684587	93618890	T T	TGTGTTTC others(589): Show TGTGTTTCCATGTGTGTGTTTGCATATGTGGTATGTGTGATGTGTGTGTG CATGTGTCTGTTTTGTGTTTGCATGTGTGTTTTGTGTGTGTGCCTGGATG TGTGGTATGTGTGTGTGCCTGGAGGTGTGGTGTGTGTATGTGTACCTGTG TGTCTGTGTGTGTAATGTGTGTGGCTGCGTGTGTGGTGTTTGTGTGTCTG CGTGTGTGTGGTGTGTGTTGTGTGTTTGCCCGTGTGGTGGGTGTGTCTGT GTCTGCATGTGTGTGGTGTGTGTGTCTGTATGTATGTTGTATATTTCTGT GTGCATGTGTGGTGTGTTTCTGTGTGTGATGTGTGTGTGTCTGTGGGGTG TATGTGTCTGCGTGTGTATTTGTGTCTGCATATGTGTGGTGTGTTTGCGT GTTTGGGTATGTATGTGTGTCTGTGTGATGTGTATGTGTGTCTGCATGTG TGGTGTGTGTGCATGTTTGTGTCTGTGTGTAGTGTGTGTATGTATCTCTG AATGTGTGTTGTGTCTGTGTGTGTATTGTGTGTTTGTGTGTGGCATGTGT CCGCATGTGTGTTGTGTGTGTGTGTGTGGTGTGTCTGCATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp2 others(73): Show HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp2 HG01928.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02056.hp2 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp1 HG02451.hp1 HG02486.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG03209.hp2 HG03490.hp1 HG03669.hp2 HG04228.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18965.hp2 NA18967.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19057.hp2 NA19064.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19088.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0020 a0002c0002 others(1): Show a0001c0001 a0001c0020 a0002c0002 a0004c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0020t0002 a0002c0002t0001 a0004c0016t0009	a0001c0001t0001g0274 a0001c0001t0001g0287 a0001c0001t0001g0288 others(73): Show a0001c0001t0001g0274 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0002g0016 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0068 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0155 a0001c0001t0002g0183 a0001c0001t0002g0223 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0011g0230 a0001c0001t0011g0241 a0001c0001t0015g0113 a0001c0001t0021g0270 a0001c0001t0022g0311 a0001c0001t0024g0120 a0001c0020t0002g0119 a0002c0002t0001g0041 a0002c0002t0001g0121 a0002c0002t0001g0240 a0004c0016t0009g0069	76	319	0.2382	596	c.99- others(613): Show c.99-11076_99-11075insTTCCATGTGTGTGTTTGCATATGTGGTA TGTGTGATGTGTGTGTGCATGTGTCTGTTTTGTGTTTGCATGTGTGTTTT GTGTGTGTGCCTGGATGTGTGGTATGTGTGTGTGCCTGGAGGTGTGGTGT GTGTATGTGTACCTGTGTGTCTGTGTGTGTAATGTGTGTGGCTGCGTGTG TGGTGTTTGTGTGTCTGCGTGTGTGTGGTGTGTGTTGTGTGTTTGCCCGT GTGGTGGGTGTGTCTGTGTCTGCATGTGTGTGGTGTGTGTGTCTGTATGT ATGTTGTATATTTCTGTGTGCATGTGTGGTGTGTTTCTGTGTGTGATGTG TGTGTGTCTGTGGGGTGTATGTGTCTGCGTGTGTATTTGTGTCTGCATAT GTGTGGTGTGTTTGCGTGTTTGGGTATGTATGTGTGTCTGTGTGATGTGT ATGTGTGTCTGCATGTGTGGTGTGTGTGCATGTTTGTGTCTGTGTGTAGT GTGTGTATGTATCTCTGAATGTGTGTTGTGTCTGTGTGTGTATTGTGTGT TTGTGTGTGGCATGTGTCCGCATGTGTGTTGTGTGTGTGTGTGTGGTGTG TCTGCATGTGTGTGGTGT	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(589): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGGAGAAGGA AGAAGGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAA AGAAGAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGA AGAAGAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGA AGAAGAAGGAAGAAGAAGAAAGAAGAAGAAGAAGGAAGAAGGAAGAAGAA AGAAGAAGGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAG AAGAAGAAGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAA AAGAAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAA GAAGAAGAAAGAAAGAAGAAAGAAAGAAGAAAGAAGAAGAAAGAAGAAAG GAAGAAGAAAAAAGGAAGAGGAAGAAAAGAAGAAGGAAGAAGAAAGAAGG AAGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGAAGAAGGAAGA AGGAAGAAGAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03209.hp2 HG02280.hp1 HG03209.hp2	a0009 a0015 a0009 a0015	a0009c0013 a0015c0014 a0009c0013 a0015c0014	a0009c0013t0001 a0015c0014t0001 a0009c0013t0001 a0015c0014t0001	a0009c0013t0001g0163 a0015c0014t0001g0168 a0009c0013t0001g0163 a0015c0014t0001g0168	2	15	0.1333	596	c.147 others(615): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCTTCT TCCTTCTTCCTTCTTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTT CCTCTTCCTTTTTTCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTC TTTCTTCTTTCTTTCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCT TCTTCTTCCTTCTTCCTTCTTTTTCTTCCTTCTTGTTCCTTCTTCCTTCT TCTTCCTTCTTCCTTCTTCTTCTTTCTTCCTTCTTCCTTCTCCTTCCTTC TTCCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCTTC TTTCTTCTTCTTCCTTCTTCTTCTTTCTTCCTTCTTTTTCTTCCTTCTTT TTCCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTC CTTCTTCCTTCTTCTTCTTCTTTCTGCTTCTTCTTCCTTCTTCTTCCTTC TTCTTCTTTCTTCTTCCTTCTTCCTTCTCCCTTCTTCTTTCTATTTCTTT CTTCTTCTCTCTTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PRKAG2_chr7_151551127_151882115	151603423	A A	ACGCTCCG others(589): Show ACGCTCCGTCCTCACCGCACACGGAGGGACACGCTCCATACTCACCGCAC ACGGAGGGACACGCTCCGTCCTCACCGCACACGGAGGGACACGCTCCGTC CTCACCGCACACGGAGGGACACGCTCCGTCCTCACCGCACAGAGGGACAC GCTCCGTCCTCACCGCACACGGAGGGACACGCTCCGTCCTCACCGCACAC GGAGGGACACGCTCCGTCCTCACCGCACACGGAGGGACACGCTCCATACT CACCGCACACGGAGGGACACGCTCCGTCCTCACCGCACACGGAGGGACAC GCTCCGTCCTCACCGCACACGGAGGGACACGCTCCGTCCTCACCGCACAG AGGGACACGCTCCGTCCTCACCGCACACGGAGGGACACGCTCCGTCCTCA CCGCACACGGAGGGACACGCTCCGTCCTCACCGCACACGGAGGGACACGC TCCGTCCTCACCGCACACGGAGGGACACGCTCCGTCCTCACCGCACACGG AGGGACACGCTCCGTCCTCACCGCACACGGAGGGACACGCTCCGTCCTCA CCGCACACGGAGGCACCCGCTCCGTCCTCACCGCACACGGAGGCACC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	204	0.0049	596	c.755 others(613): Show c.755-7970_755-7969insGGTGCCTCCGTGTGCGGTGAGGACGGAG CGGGTGCCTCCGTGTGCGGTGAGGACGGAGCGTGTCCCTCCGTGTGCGGT GAGGACGGAGCGTGTCCCTCCGTGTGCGGTGAGGACGGAGCGTGTCCCTC CGTGTGCGGTGAGGACGGAGCGTGTCCCTCCGTGTGCGGTGAGGACGGAG CGTGTCCCTCCGTGTGCGGTGAGGACGGAGCGTGTCCCTCCGTGTGCGGT GAGGACGGAGCGTGTCCCTCTGTGCGGTGAGGACGGAGCGTGTCCCTCCG TGTGCGGTGAGGACGGAGCGTGTCCCTCCGTGTGCGGTGAGGACGGAGCG TGTCCCTCCGTGTGCGGTGAGTATGGAGCGTGTCCCTCCGTGTGCGGTGA GGACGGAGCGTGTCCCTCCGTGTGCGGTGAGGACGGAGCGTGTCCCTCCG TGTGCGGTGAGGACGGAGCGTGTCCCTCTGTGCGGTGAGGACGGAGCGTG TCCCTCCGTGTGCGGTGAGGACGGAGCGTGTCCCTCCGTGTGCGGTGAGG ACGGAGCGTGTCCCTCCGTGTGCGGTGAGTATGGAGCGTGTCCCTCCGTG TGCGGTGAGGACGGAGCG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	5/15			chr7	TogoVar
RPH3AL_chr17_207389_357807	234341	C C	CGAGCAGG others(589): Show CGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCCGAGCAGGGAGCG GCTACTTACCCTGACCAACTTCCCTGAGCAGGGAGCGGTTACTTACCCTG ACCAACTTTCCCCCAAGCGGGGAGCGGCTACTTACCCTGACCAACTTCCC TGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCCGAGCAGGGAGCG GCTACTTACCCTGACCAACTTCCCCGAGCAGGGAGCGGCTACTTACCCTG ACCAACTTCCCTGAGCAGGGAGCGGTTACTTACCCTGACCAACTTTCCCC CAAGCGGGGAGCGGCTACTTACCCTGACCAACTTCCCTGAGCAGGGAGCG GCTACTTACCCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTACCCTG ACCAACTTCCCTGAGCAGGGAGCGGCTACTTCCCCTGACCAACTTCCCTG AGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCTGAGCAGGGAGCGGC TACTTCCCCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTACCCTGAC CAACTTCCCCGAGCAGGGAGCGGCTACTTCCCCTGACCAACTTCCCT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0046 a0001c0004t0001g0046	1	95	0.0105	596	c.613 others(615): Show c.613+12769_613+12770insAGGGAAGTTGGTCAGGGGAAGTAGCC GCTCCCTGCTCGGGGAAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTCAG GGAAGTTGGTCAGGGGAAGTAGCCGCTCCCTGCTCAGGGAAGTTGGTCAG GGTAAGTAGCCGCTCCCTGCTCAGGGAAGTTGGTCAGGGGAAGTAGCCGC TCCCTGCTCAGGGAAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTCAGGG AAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTCAGGGAAGTTGGTCAGGG TAAGTAGCCGCTCCCCGCTTGGGGGAAAGTTGGTCAGGGTAAGTAACCGC TCCCTGCTCAGGGAAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTCGGGG AAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTCGGGGAAGTTGGTCAGGG TAAGTAGCCGCTCCCTGCTCAGGGAAGTTGGTCAGGGTAAGTAGCCGCTC CCCGCTTGGGGGAAAGTTGGTCAGGGTAAGTAACCGCTCCCTGCTCAGGG AAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTCGGGGAAGTTGGTCAGGG TAAGTAGCCGCTCCCTGCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
SART1_chr11_65956734_65985137	65971174	C C	CATGAGCT others(589): Show CATGAGCTGCTGAGGAGGGGGGTGGTGGGATTCATGAGCTGCTGAGGAGG GGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATG AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGG GGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGG ATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03098.hp2 HG01109.hp2 HG03098.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0112 a0001c0006t0001g0113 a0001c0006t0001g0112 a0001c0006t0001g0113	2	307	0.0065	596	c.157 others(615): Show c.1572+3354_1572+3355insTGAGCTGCTGAGGAGGGGGGTGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGTGGGATTCATGA	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SDCCAG8_chr1_243251041_243505091	243480604	A A	ATGGATGG others(589): Show ATGGATGGATGGATGGGTGGGATGGATGGGGGATGGATGGATGGGTGGGA TGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATGGATG GGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGAT GGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGATGGA TGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGA TGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGG TGGATGGATGGATGGGTGGTATGGATGGATGGGTGTGATGGATGGATGGA TGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGG ATGGATGGATGGATGGATGGATGGGATGGATGAATGGGGGATGGATGGAT GGGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATG GATGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATG GATGGATGGATGGGTGGATGGATGGGTGGGATGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG06807.hp2 HG03471.hp2 HG06807.hp2	a0003 a0004 a0003 a0004	a0003c0006 a0004c0005 a0003c0006 a0004c0005	a0003c0006t0001 a0004c0005t0001 a0003c0006t0001 a0004c0005t0001	a0003c0006t0001g0067 a0004c0005t0001g0036 a0003c0006t0001g0067 a0004c0005t0001g0036	2	3	0.6667	596	c.198 others(615): Show c.1986-8391_1986-8390insGATGGATGGGGGATGGATGGATGGGT GGGATGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATG GATGGGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGAT GGATGGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGA TGGATGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGA TGGATGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGA TGGGTGGATGGATGGATGGGTGGTATGGATGGATGGGTGTGATGGATGGA TGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGG ATGGATGGATGGATGGATGGATGGATGGGATGGATGAATGGGGGATGGAT GGATGGGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATG GATGGATGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGG GATGGATGGATGGATGGGTGGATGGATGGGTGGGATGGATGGATGGATGG GTGGATGGATGGATGGGTGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(589): Show GTATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATATTCCATATATA TATATATTCCATATATATATATATATTCCATATATATATATATTCCATAT ATATATATATATTCCATATATATATATATTCCATATATATATATATATTC CATATATATATATTCCATATATATATATATTCCATATATATATATTCCAT ATATATATATATTCCATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATTCCATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	283	0.0035	596	c.115 others(613): Show c.115-2552_115-2551insTATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATGGAATATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATATGGAATA TATATATATGGAATATATATATATGGAATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATGGAATATATATATATATGGAATATATATATATGGAATATATATATA TATGGAATATATATATATGGAATATATATATATATATGGAATATATATAT ATATGGAATATATATATATATATGGAATATATATATATATGGAATATATA TATATATATGGAATATATATATATATGGAATATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATGGAATA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SLC44A5_chr1_75197129_75616114	75280139	T T	TATATATT others(589): Show TATATATTGTATATCTAATATATATTATATATATTTTATATTGTATATAT AATATATATAGTATATATTATATATTGTATATAATATATATAGTATATAT TATATATTGTATATAATATATATAGTATATATTATATATTGTATATATTA TATATTGTATATATAATATATATATTGTATATATTATATATTGTATATAT AATATATATATTGTATATATTATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATT GTATATATAATATATATATTGTATATATTATATATTGTATATATAATATA TATATTGTATATATTATATATTGTATATATAATATATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATATTGTATATATTATATATTGTATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0144 a0001c0004t0001g0144	1	123	0.0081	596	c.176 others(613): Show c.176-5098_176-5097insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATATTATATATACAAT ATATAATATATACAATATATATATTATATATACAATATATAATATATACA ATATATATATTATATATACAATATATAATATATACAATATATATATTATA TATACAATATATAATATATACAATATATATATTATATATACAATATATAA TATATACAATATATATATTATATATACAATATATAATATATACAATATAT ATATTATATATACAATATATAATATATACAATATATAATATATACTATAT ATATTATATACAATATATAATATATACTATATATATTATATACAATATAT AATATATACTATATATATTATATATACAATATAAAATATATATAATATAT ATTAGATATACAATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC6A3_chr5_1387794_1450440	1422649	G G	GTGCTGGG others(589): Show GTGCTGGGTGCCCACCGCTGCCCACGGTGCTGCCCACGCTGCTGGGTGCC CACCGCTGCCCACGGTGCTGCCCAAGGTGCTGGGTACCCACCGCTGCCCA GTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGGT GCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCA CCGCTGCCCAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGT GCTGCCCACGCTGCTGGGTGCCCACCACTGCCCACAGTGCTGCCCACGCT GCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCA CCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACA GTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAGTGCTGCCCACGCT GCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGGTGCCCACC GCTGCCCAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGC TGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01952.hp1 HG02273.hp1 HG01167.hp1 HG01952.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0001g0085 a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0001g0085	3	170	0.0176	596	c.654 others(611): Show c.654-636_654-635insGCGTGGGCAGCACTGTGGGCAGCGGTGGGC ACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGT GGGCAGCACTGGGCAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGGGC AGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCACCC AGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGC AGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGC AGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGTGGTGGGCAC CCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGG GCAGCACTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGC AGCGGTGGGCACCCAGCACCGTGGGCAGCACTGGGCAGCGGTGGGTACCC AGCAGCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCACCTTGGGCAG CACCGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACCGTGGGCAG CGGTGGGCACCCAGCA	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(589): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATTTTATAATATATAATATATTATATATTATAATATATAATA TATAATATATTATAATATATAATATATTATATATTATAATATATAATATA TTATATATTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAAAATATTATATTTTATAATATATAAAATATTATAT TTTATAATATATAAAATATATTATATTTTATAATATATAAAATATATTAT ATTTTATAATATATAATATATATTATATTTTATAATATATAATATATATT ATATTTTATAATATATAATATATATTATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG04228.hp2 NA18969.hp2 others(1): Show HG02056.hp1 HG04228.hp2 NA18969.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0058 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0058 a0001c0001t0001g0074	4	164	0.0244	596	c.17 others(615): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATATTATATATTATAAAATATAATATATTTTATATATTATAAAATATA ATATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATA ATATTTTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTATATATTATAATATATAATATATTATATATTATAATATATAATATAT TATATATTATAATATATTATATATTATATATTATAATATATAATATATTA TATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATA TATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATA TTATAAAATATAATATATTATATATTATAAAATATAATATATTATATATT ATAAAATATAATATATATTATATATTATAAAATATAATATATATTATATA TTATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(589): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATATTATAATATATAATATATAATATATTATAATATATAATATA TTATATATTATAATATATAATATATTATATATTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAAAATATTATATTTTATAATATATAAAATATTATAT TTTATAATATATAAAATATATTATATTTTATAATATATAAAATATATTAT ATTTTATAATATATAATATATATTATATTTTATAATATATAATATATATT ATATTTTATAATATATAATATATATTATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	161	0.0062	596	c.17 others(615): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATATTATATATTATAAAATATAATATATTTTATATATTATAAAATATA ATATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATA ATATTTTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAATATATAATAT ATTATATATTATAATATATAATATATTATATATTATAATATATTATATAT TATATATTATAATATATAATATATTATATATTATAAAATATAATATATTA TATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATA TATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATA TTATAAAATATAATATATTATATATTATAAAATATAATATATTATATATT ATAAAATATAATATATATTATATATTATAAAATATAATATATATTATATA TTATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMYD3_chr1_245744347_246512279	246324972	A A	AGGAGAAG others(589): Show AGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCG GGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGG GGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGG AGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGG AGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGG AAGGAGGGAGAAGGAGTCGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGGG GGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGG AGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGG AGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGA AGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGG GCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAG TCGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0099 a0002c0003t0001g0099	1	144	0.0069	596	c.531 others(613): Show c.531+2228_531+2229insCTCCTTCCCGCCCCCCGACTCCTTCTCC CTCCTTCCCGCCCCCGCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACT CCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCC CCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCC TGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCC TTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCG CGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCC TGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCT TCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCG ACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGC CCCCCCGACTCCTTCTCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SPAAR_chr9_35904490_35916686	35913714	G G	GAGTGTGT others(589): Show GAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGT GAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGT GAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGT GAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGT GAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGT GAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGT GAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGT GAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGT GAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGT GAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGT GAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGT GAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	596	c.30 others(607): Show c.3023_*3024insAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG CTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG CTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG CTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG CTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG CTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG CTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG CTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG CTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG CTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG CTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG CTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG CTGTATGTGTGT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2029		chr9	TogoVar
SPNS3_chr17_4428940_4493204	4462382	C C	CACCAATC others(589): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA TCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATC CATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAA TCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCAATC TATCCATCCATCCATCCACCCATCCGCCAATCCATCCATCCATCCATCCA TCCACCAATCCATCCACCCACCCATCCACCAATCCATCCATCCACCCACC CACCCACCCACCCACCAATGCATCCATCCACCCACCCACCCACCCACCCA CCCATCCATCCACCAGTCTGTCAATCCATCTATCCATCCATCCACCA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18983.hp2 NA18962.hp1 NA18983.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0071 a0001c0004t0001g0075 a0001c0004t0001g0071 a0001c0004t0001g0075	2	314	0.0064	596	c.111 others(615): Show c.1113+9178_1113+9179insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACC TACCCACCCATCCATCCACCAATCTATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCACCAATCTATCCATCCATCCATCCACCCATCCGCC AATCCATCCATCCATCCATCCATCCACCAATCCATCCACCCACCCATCCA CCAATCCATCCATCCACCCACCCACCCACCCACCCACCAATGCATCCATC CACCCACCCACCCACCCACCCACCCATCCATCCACCAGTCTGTCAATCCA TCTATCCATCCATCCACCAA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
THEG_chr19_356747_381026	376715	T T	TCTGTACC others(589): Show TCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCCCCGTGCCTCCACCCAGCCTCTCCCCCTGTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCC TCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCC AGCCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCTGTGTGCCCCA CCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCC CCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCGTGTG CCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGT GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCGTG TGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	356	0.0028	596	c.-74 others(605): Show c.-746_-745insGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGC TGGGTGGGGCACACGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAG GCTGGGTGGGGCACACGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGG GAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGGGGCACACAG GGGGAGAGGCTGGGTGGAGGCACGGGGGGGGAGAGGCTGGGTGGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGA GGCACGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGG TGGGGTACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		690		chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(589): Show CTCTCCCCTCCCCTCTCCCCCCCCTCCCCTCTCCTCTCTCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTC TCCCCTCCCCCTCCCCTCTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTC CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCT CCCCTACCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCTCCCCTCCCCTTCTCTGTCCTCCCCTCCTCTCTCTTCCC CTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCC TCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTC CCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTC ATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTC CCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCC CTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0073 a0003c0009t0002g0073	1	46	0.0217	596	c.-25 others(615): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCCCCCTCCCC TCTCCTCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCTCCCCTC TCCCCTCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCT CCCCTCTCCCCTCTCCCCTCTCCCCTACCCTCTCCCCTCTCCCCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTGT CCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCT CTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCC CTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCC TCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCC CTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCC TCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCT CCCCCTCCCCCTCCCCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(589): Show CTCTCCCCTCCCCTCTCCCCCCCCTCCCCTCTCCTCTCTCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCTCCCCTCTCCCCTCT CCCCTCCCCCTCCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCT CCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTC TCCCCTACCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCTCCCCTCCCCTTCTCTGTCCTCCCCTCCTCTCTCTTCC CCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCCTCCCCTCT CCTCTCTCCTCCCCTCTCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTT CCCCTCTTCCCTCCCCTCTCCCTCTCCCCTCCCCTCCCATCTCCCCTCTC ATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTC CCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCC CTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	46	0.0217	596	c.-25 others(615): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCCCCCTCCCC TCTCCTCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCTCCCTCCCCTCTCCCCTCTCCCCTCCCCCTCCCCCTCTCCCCTCCCCT CTCCCCTCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCTCCCCTCTCCCCTACCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTG TCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCC TCTCCTCCCCTCCTCCCCTCTCCTCTCTCCTCCCCTCTCCCTCCCCTCGC CCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCTCTCCCC TCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCC CTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCC TCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCT CCCCCTCCCCCTCCCCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TRAF6_chr11_36478769_36515272	36507456	A A	ATATGTAT others(589): Show ATATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATA TACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTA TACATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAA ATGTATATATGTATATATACATGTATTATACATACGTAAATGTATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA ATGTATATATACATTATACATACGTAAATGTATAATGTATATATACATTA TACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTA TAATGTATATATACATTATACATACGTAAATGTATAATGTATATATATTA TACATACGTAAATGTATATATATACATTATACATACGTAAATGTATATAT ATATACATTATACATACGTAAATGTATTATACATAAATGTATATATG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03471.hp1 HG02976.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0040 a0001c0001t0007 a0001c0001t0040	a0001c0001t0007g0253 a0001c0001t0040g0252 a0001c0001t0007g0253 a0001c0001t0040g0252	2	31	0.0645	596	c.-23 others(613): Show c.-23+2591_-23+2592insCATATATACATTTATGTATAATACATTT ACGTATGTATAATGTATATATATATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATATATATACATTATACATTTACGTATGT ATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATACA TTATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATACATGTATA TATACATATATACATTTACGTATGTATAATACATGTATATATACATATAT ACATTTACGTATGTATAATACATGTATATATACATATATACATTTACGTA TGTATAATACATGTATATATACATATACATTTACGTATGTATAATACATG TATATATACATATATACATTTACGTATGTATAATACATGTATATATACAT ATATACATTTACGTATGTATAATACATGTATATATACATATATACATTTA CGTATGTATAATACATGTATATATACATATATACATTTACGTATGTATAA TACATGTATATATACATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIML1_chr4_188134441_188152743	188152097	A A	AGAAGGGG others(589): Show AGAAGGGGAGTGAGGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGATGA GAAGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGCTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAAGGG GAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGA GTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGCTGAGAAGGGGAGT GAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAAGGAAGTGA GAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGGGGTTGAGAAGGGAGTGAGAGTGG GGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGG GTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGGTGAGAGGGGTTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	217	0.0046	596	c.47 others(607): Show c.4725_*4726insGAAGGGGAGTGAGGAGTGGGGGTGAGAAGGGGAG TGAGAGTGGGGATGAGAAGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGA GAGTGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGA GTGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTG GGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGG GCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGG GTGAGAAGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGGGGTTGAGA AGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAG TGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGGT GAGAGGGGTTGG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4355		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188152291	A A	AAGGGGAG others(589): Show AAGGGGAGTGAGAGAGGGGGTGTGAGAGGAAGTGAGAGTGGGGCTGAGAA GGGGAGTGAGTGTGGGGGTGAGGAGGGGAGTGAGAGTGGGGGTGAGAAGG GAAGTGAGAGTGGGGGTTGAGAAGGGGTGTGAGAGAGGGGTGAGAAGGGG AGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGGGGGTTGAGAAGGGGAGT GAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGA GAGTGGGGGTGAGAAGGGGAGTGAGGTGGGGGTGTGAAGGGGAGTGAGTG TGGGGGTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAAGGGGAGTGAGAGA GGGGTTGAGAAGGGGAGTGAGGTGGGGGTGTGAAGGGGAGGGAGAGAGGG GTTGAGAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGT GAGAAGGGGAGTGAGAGTGGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTG AGAGGGGAGTGAGAGTGGGGGGTGAGAAGGGGAGTGAGTGTGGGGGTGAG AAGGGGTGTGAGAGGGGGGTGAGAAGGGGAGTGAGTGTGGGGGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	226	0.0044	596	c.49 others(607): Show c.4919_*4920insAGGGGAGTGAGAGAGGGGGTGTGAGAGGAAGTGA GAGTGGGGCTGAGAAGGGGAGTGAGTGTGGGGGTGAGGAGGGGAGTGAGA GTGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGTGTGAGAG AGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGGGG GTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGT TGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGGTGGGGGTGT GAAGGGGAGTGAGTGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGGTGAG AAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGGTGGGGGTGTGAAG GGGAGGGAGAGAGGGGTTGAGAGGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAAGGGGA GTGAGAGTGGGGGTGAGAGGGGAGTGAGAGTGGGGGGTGAGAAGGGGAGT GAGTGTGGGGGTGAGAAGGGGTGTGAGAGGGGGGTGAGAAGGGGAGTGAG TGTGGGGGTGAG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4549		chr4	TogoVar
TRPM7_chr15_50552158_50691797	50564248	A A	AAAAATAA others(589): Show AAAAATAAAAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAATAAAATAAAATA AAATAAAATAAAATAAATAAAATAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0021 a0001c0001t0020g0021	1	121	0.0083	596	c.546 others(615): Show c.5468-2441_5468-2440insATTTTATTTTATTTTATTTTATTTAT TTTATTTATTTTATTTTATTTTATTTTATTTTATTTTTTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATTTTA TTTTATTTTATTTTTATTTT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	38/38			chr15	TogoVar
TWIST2_chr2_238843085_238915534	238870575	C C	CACCACAC others(589): Show CACCACACCCCACACACACCACACCCCCCCACACACCACACCCCATACAC ACCACACCCCACACACACCACACACCCCCCACACACCACACACCCCACAC ACACCACACCCCATACACACCACACCCCACACACACCACACACCCCCCAC ACACCACACACCCCACACACACCACACCCCATACACACCACACCCCACAC ACACCACACACCCCCCACACACCACACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCCATAC ACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACACCCCATACACACCACACACCCCCCACACACCACACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACACCCCATACACACCACACACCCCCC ACACACCACACCCCATACACACCACACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACCACACCCCACACACACCACACACCCCA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	272	0.0037	596	c.35 others(615): Show c.35+21842_*35+21843insACCACACCCCACACACACCACACCCC CCCACACACCACACCCCATACACACCACACCCCACACACACCACACACCC CCCACACACCACACACCCCACACACACCACACCCCATACACACCACACCC CACACACACCACACACCCCCCACACACCACACACCCCACACACACCACAC CCCATACACACCACACCCCACACACACCACACACCCCCCACACACCACAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACCCCATACACACCACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACACCCCATACACACCACACAC CCCCCACACACCACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACAC CCCATACACACCACACACCCCCCACACACCACACCCCATACACACCACAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACCACACCC CACACACACCACACACCCCA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UBE2J2_chr1_1248912_1278854	1249037	G G	GCGAGGGA others(589): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACAACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCC ACTCCGCCCTACAGGCCGGGACAACGGGCAGCCCTGGGAGGCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	83	0.0120	596	c.61 others(607): Show c.6165_*6166insGTCCAGCCTCCCAGGGCTGCCCGTTGTCCCGGCC TGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGC TGCCCGTTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCG GTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGA GGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCG	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4874		chr1	TogoVar
UBE2J2_chr1_1248912_1278854	1249322	A A	ACTCCGCC others(589): Show ACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAG GGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCT GGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCG GGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCAC TCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGG AGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGG GAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGG ACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTC CGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAG GCTGGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGG AGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCGGGAC ACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	322	0.0031	596	c.58 others(607): Show c.5880_*5881insAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCC CAGGGCTGCCCGTGTCCCGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCC CTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGT GGGAGGCCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCC GGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCA GGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCC TCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTG GGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGG CCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGG GCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTC GGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGG AGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCC TGTAGGGCGGAG	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4589		chr1	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(589): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	177	0.0056	596	c.53+ others(611): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATA GATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
ARHGAP39_chr8_144524179_144690846	144687228	C C	CCCCGTGA others(590): Show CCCCGTGACCACTCATTTACAGCGAGCACTTCTCACCCCGTGACCACACA CTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCAC TTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGAC CACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTG AGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCC GTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAG CGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCC ACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACAC ACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCAC TTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGA CCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGG TGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0013 a0001c0003t0001g0013	1	209	0.0048	597	c.-16 others(608): Show c.-1625_-1624insTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGG GTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCA CCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGT CACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAG TGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTG GGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGC TAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACG GGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTC ACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAA GTGCTCGCCGCCAGTGTGTGGTCACGGGGTGAGAAGTGCTCGCTGTAAAT GAGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1383		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687405	A A	ACCCCGTG others(590): Show ACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCACAC ACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCAC TTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGAC CACACATTTACAGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTG AGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCC GTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGG CGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCC ACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACA CACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCA CTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGA CCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACAGT GAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	211	0.0047	597	c.-18 others(608): Show c.-1802_-1801insGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGG GGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGT CACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGT GCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGT GTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTG GGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGC CAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACG GGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTC ACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAG TGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCTGTAAATG AGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1560		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687423	G G	GGCGGTGA others(590): Show GGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTC CCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCAC ACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGC ACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTG ACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGG TGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACC CCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACAC TAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTT CCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCA CACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGA GCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCG TGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	184	0.0054	597	c.-18 others(608): Show c.-1820_-1819insTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCG CTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCAC GGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGC TCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGT GGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGA AGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAG TGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTC ACGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTG CTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTG TGGTCACGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGG AAGTGCTCACCGC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1578		chr8	TogoVar
ATP10B_chr5_160558120_160857211	160652904	T T	TGTATTGC others(590): Show TGTATTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATATA GATTGTACATACGTGTACATACAATGTATTGCATATAGATTGTACATACG TGTACATACAATGTATTGCATATAGATTGTACATACGTGTACATACAATG TATTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATATAGA TTGTACATACGTGTACATACAATGTATTGCATATAGATTGTACATACGTG TACATACAATGTATTGCATATAGATTGTACATACGTGTACATACAATGTA TTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATATAGATT GTACATACGTGTACATACAATGTATTGCATATAGATTGTACATACGTGTA CATACAATGTATTGCATATAGATTGTACATACGTGTACATACAATGTATT GCATATAGATTGTACATACGTGTACATACAATGTATTGCATAGATTGTAC ATACGTGTACATACAATGTATTGCATATAGATTGTACATACGTGTACATA CAATGTATTGCATATAGATTGTACATACGTGTACATACAATGTATTGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0017 a0017	a0017c0022 a0017c0022	a0017c0022t0046 a0017c0022t0046	a0017c0022t0046g0056 a0017c0022t0046g0056	1	228	0.0044	597	c.676 others(614): Show c.676-3649_676-3648insGCAATACATTGTATGTACACGTATGTAC AATCTATATGCAATACATTGTATGTACACGTATGTACAATCTATATGCAA TACATTGTATGTACACGTATGTACAATCTATGCAATACATTGTATGTACA CGTATGTACAATCTATATGCAATACATTGTATGTACACGTATGTACAATC TATATGCAATACATTGTATGTACACGTATGTACAATCTATATGCAATACA TTGTATGTACACGTATGTACAATCTATATGCAATACATTGTATGTACACG TATGTACAATCTATATGCAATACATTGTATGTACACGTATGTACAATCTA TATGCAATACATTGTATGTACACGTATGTACAATCTATATGCAATACATT GTATGTACACGTATGTACAATCTATATGCAATACATTGTATGTACACGTA TGTACAATCTATATGCAATACATTGTATGTACACGTATGTACAATCTATA TGCAATACATTGTATGTACACGTATGTACAATCTATATGCAATACATTGT ATGTACACGTATGTACAATCTATATGCAATACATTGTATGTACACGTATG TACAATCTATATGCAATAC	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(590): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCC ACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCCACC CCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCTCCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCCACCTCCCCCCACCCCCACCTCCCCCCACCCCCACCCAC CTCCCCCCACCCCCACCTCCCCCCACCTCCCCCACCTCCCCCCACCCCCC ACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCTCCCCCCACCT CCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCTCCCC CCACCCCCCACCCCCACCCCCCACCCCCCACCTCCCCCCACCCCCCCACC TCCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0178 a0001c0014t0003g0178	1	5	0.2000	597	c.39+ others(614): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCC ACCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCC CCCCACCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCT CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCTCCCCCCACCCC CACCCACCTCCCCCCACCCCCACCTCCCCCCACCTCCCCCACCTCCCCCC ACCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCTCCC CCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCA CCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCA CCTCCCCCCACCCCCCACCCCCACCCCCCACCCCCCACCTCCCCCCACCC CCCCACCTCCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCC CACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(590): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATATTTATAT ATATATAATTATATATATATATAAAATTATATATATAATTATATATATTA TATATAATTATATATATAATTTTATATATATAATTATATATATTTATATA TATATATATAATTATATATATATAAAATTATATATATAATTATATATATA TTATATATAATTATATATATATATTATATATAATTTTATATATATAATTA TATATATAATTTTATATATATAATTTTATATATATAATTTTATATATATA ATTTTATATATATAATTATATATATAATTTTATATATATATAATTATATA TATAATTTTATATATATATAATTATATATATAATTTTATATATATATAAT TATATATATAATTTTATATATATATAATTATATATATAATTATATATATA ATTTTATATATATAATTATATATATAATTTTATATATATATAATTATATA TATAATTTTATATATATAATTATATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	94	0.0106	597	c.907 others(612): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAAAATTATATATATAAAATTATA TATATAAAATTATATATATAATTATATATATAAAATTATATATAATATAT ATATATAATTATATATAATATATATATAATTATATATATAATTTTATATA TATATAATTATATATATATATATAAATATATATAATTATATATATAAAAT TATATATATAATTATATATAATATATATAATTATATATATAATTTTATAT ATATATATAATTATATATATATAAATATATATATAATTATATATATATAA AATTATATATATAATTATATATATATAAAATTATATATATAATTATATAT ATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(590): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATTTATATAT ATATAATTATATATATATATAAAATTATATATATAATTATATATATTATA TATAATTATATATATAATTTTATATATATAATTATATATATTTATATATA TATATATAATTATATATATATATAAAATTATATATATAATTATATATATA TTATATATAATTATATATATATATTATATATAATTTTATATATATAATTA TATATATAATTTTATATATATAATTTTATATATATAATTTTATATATATA ATTTTATATATATAATTATATATATAATTTTATATATATATAATTATATA TATAATTTTATATATATATAATTATATATATAATTTTATATATATATAAT TATATATATAATTTTATATATATATAATTATATATATAATTTTATATATA TATAATTATATATATAATTATATATATAATTTTATATATATAATTATATA TATAATTTTATATATATATAATTATATATATAATTTTATATATATAAT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0291 a0001c0001t0007g0291	1	94	0.0106	597	c.907 others(612): Show c.907+327_907+328insATTATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATAAAATTATATATATA ATTATATATATAATTATATATATATAAAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAAAATTATATATATAAAATTATA TATATAAAATTATATATATAATTATATATATAAAATTATATATAATATAT ATATATAATTATATATAATATATATATAATTATATATATAATTTTATATA TATATATAATTATATATATATATATAAATATATATAATTATATATATAAA ATTATATATATAATTATATATAATATATATAATTATATATATAATTTTAT ATATATATATAATTATATATATATAAATATATATAATTATATATATATAA AATTATATATATAATTATATATATATAAAATTATATATATAATTATATAT ATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(590): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGCTACTCCCTGGGTGGGGTGA GGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGGTG GGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGGGG GAAGGGTGTGGGTGGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTGT GTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGGC TGGGGAGGGGTGGGGTGGGGTGGGAGGGGAGGGGTGGGGTGGAGTGGGGG CTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGGAAGGGTGCAG GTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGGAGGGAGGGGTGGGGT GGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGG GGTGGAGTGGGGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGTGGGG GGAAGGGTGTGGGTGGGGTGGGGGAGGGTGTGGGTGGGGTGGGGTGGGAG GGGTGGGGAGGGGTGGGAGGGGGTGGGGTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	4	0.2500	597	c.712 others(614): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCTCCCC CACCCCACCCACACCCTTCCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACTCCACCCCACCCCCTCCCACCCCACCCCACCCCTCC CCCACCCACACCCTTCCCCCACCCCACCCCTCCCTCCCCCCACCCCTCCT CCACCCCTCCTCCACCCCACCTGCACCCTTCCCCCCACCCCACCCCTCCT CCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCTCCCCTCCCA CCCCACCCCACCCCTCCCCAGCCCCACCCATACCCTTCCCCCACTCCACC CCACCCCTCCCCAGCCCCACACACACCCTTCCCCCACCCCAACCCTCCCC AGCCCCCACCCACACCCTTCCCCCACCCCACCCCACCCCTCCCCCACCCC ACCCCAACCCTCCCCCACCCCACCCCAACCCTCCCCAGCCCCACACACCC TTCCCCCACCCCAACCCTCCTCACCCCACCCAGGGAGTAGCCCCACTCCA CCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(590): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGAGGGGTGGGGTGGGGTGGG GGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTGT GTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGGC TGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGG GCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAG GTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTG GGGGAAGGGTGTGGGTGGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGG GGTGGAGTGGGGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGTGGGG GAAGGGTGTGGGTGGGGTGGGGGAGGGGTGTGGGTGGGGTGGGGTGGGAG GGGTGGGGAGGGGTGGGAGGGGGTGGGGTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	4	0.2500	597	c.712 others(614): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACTCCACCCCACCCCCTCCCACCCCACCCCACCCCTCC CCCCACCCACACCCTTCCCCCACCCCACCCCTCCCTCCCCCACCCCTCCT CCACCCCTCCTCCACCCCACCTGCACCCTTCCCCCACCCCACCCCTCCTC CACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCTCCCCCTCCCA CCCCACCCCACCCCTCCCCAGCCCCACCCATACCCTTCCCCCACTCCACC CCACCCCTCCCCAGCCCCACACACACCCTTCCCCCACCCCAACCCTCCCC AGCCCCACCCACACCCTTCCCCCACCCCACCCCACCCCTCCCCACCCCAC CCCAACCCTCCCCCACCCCACCCCAACCCTCCCCAGCCCCACACACCCTT CCCCCACCCCAACCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCA CCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(590): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGT GGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGG GGTGGAGTGGGGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGTGGGG GAAGGGTGTGGGTGGGGTGGGGGAGGGGTGTGGGTGGGGTGGGGTGGGAG GGGTGGGGAGGGGTGGGAGGGGGTGGGGTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG00642.hp2 others(58): Show HG00099.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01952.hp2 HG02027.hp1 HG02040.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02293.hp2 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02818.hp1 HG03017.hp1 HG03195.hp2 HG03209.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18944.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18970.hp2 NA18983.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0001 a0001c0003 a0002c0004 others(3): Show a0001c0001 a0001c0003 a0002c0004 a0003c0007 a0006c0013 a0008c0023	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0003t0001 a0002c0004t0001 a0003c0007t0001 a0006c0013t0001 a0008c0023t0001	a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 others(58): Show a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0001g0185 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0236 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0265 a0001c0001t0001g0278 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0009g0150 a0001c0001t0009g0156 a0001c0001t0010g0011 a0001c0001t0010g0170 a0001c0001t0016g0081 a0001c0003t0001g0251 a0002c0004t0001g0157 a0003c0007t0001g0143 a0003c0007t0001g0144 a0006c0013t0001g0091 a0008c0023t0001g0279	61	64	0.9531	597	c.712 others(614): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACTCCACCCCACCCCCTCCCACCCCACCCCACCCCTCC CCCACCCACACCCTTCCCCCACCCCACCCCTCCCTCCCCCACCCCTCCTC CACCCCTCCTCCACCCCACCTGCACCCTTCCCCCACCCCACCCCTCCTCC ACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCTCCCCCTCCCAC CCCACCCCACCCCTCCCCAGCCCCACCCATACCCTTCCCCCACTCCACCC 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(590): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGT GGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGG GGTGGAGTGGGGGAGGGGTGGGGTGGGGGAAGGGTGCGGGTGGGGTGGGG GAAGGGTGTGGGTGGGGTGGGGGAGGGGTGTGGGTGGGGTGGGGTGGGAG GGGTGGGGAGGGGTGGGAGGGGGTGGGGTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	4	0.2500	597	c.712 others(614): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCCGCACCCTTCCCCCACCC CACCCCTCCCCCACTCCACCCCACCCCCTCCCACCCCACCCCACCCCTCC CCCACCCACACCCTTCCCCCACCCCACCCCTCCCTCCCCCACCCCTCCTC CACCCCTCCTCCACCCCACCTGCACCCTTCCCCCACCCCACCCCTCCTCC ACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCTCCCCCTCCCAC CCCACCCCACCCCTCCCCAGCCCCACCCATACCCTTCCCCCACTCCACCC CACCCCTCCCCAGCCCCACACACACCCTTCCCCCACCCCAACCCTCCCCA GCCCCACCCACACCCTTCCCCCACCCCACCCCACCCCTCCCCCACCCCAC CCCAACCCTCCCCCACCCCACCCCAACCCTCCCCAGCCCCACACACCCTT CCCCCACCCCAACCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCA CCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CCDC57_chr17_82096470_82217842	82148365	G G	GTGGGTGG others(590): Show GTGGGTGGATGGGTAGATGGATGGATGGATGGTTGGGTGGGTGGGTGGAT GGATGGGTGGATGGATACATGGATGCGTGGGTGGGTGAAATGATGAATGG GTGGGTGGATGGATGGATAGATAGGTGGGTGGATGGATGGGTGGGTGAAT GGTAGATGGATGGATGGATGGGTGGGTGGGTAGATGGATAGATGGATGGG TGGGCAGATAGATGAATGGGTGGGTGGATGGGTAGATGGATGGATGGTTG GGTGGGTGGACAGATGGACGGGTGGATGAATACATGGATGGGTGGGTGGA TGGATGGATGGAAGGATAGATAGGTGGGTGGATGGATGGGTGGTGGGTGG GTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTAGATGGGT GGATGGATAGATGGATGGGTGGGGGGGATAAGTGGTTGGATGGTTAGACG GATGGATGGATGGATGAATAGATAGGTGGGTGGATGGATGGGTGGGTGGA TAGTGGATGGATGGATGGGTGGGTGGGTAGATGGGTAGATGGATGGATGG ATGGGTGGGTGGATGGATGGTAGATGGATGGATGGGTGGGTGGATACA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0202 a0002c0002t0001g0202	1	122	0.0082	597	c.245 others(616): Show c.2455+3194_2455+3195insTGTATCCACCCACCCATCCATCCATC TACCATCCATCCACCCACCCATCCATCCATCCATCTACCCATCTACCCAC CCACCCATCCATCCATCCACTATCCACCCACCCATCCATCCACCCACCTA TCTATTCATCCATCCATCCATCCGTCTAACCATCCAACCACTTATCCCCC CCACCCATCCATCTATCCATCCACCCATCTACCCACCCACCCATCCATCC ACCCACCCACCCATCCATCCACCCACCCACCACCCATCCATCCACCCACC TATCTATCCTTCCATCCATCCATCCACCCACCCATCCATGTATTCATCCA CCCGTCCATCTGTCCACCCACCCAACCATCCATCCATCTACCCATCCACC CACCCATTCATCTATCTGCCCACCCATCCATCTATCCATCTACCCACCCA CCCATCCATCCATCCATCTACCATTCACCCACCCATCCATCCACCCACCT ATCTATCCATCCATCCACCCACCCATTCATCATTTCACCCACCCACGCAT CCATGTATCCATCCACCCATCCATCCACCCACCCACCCAACCATCCATCC ATCCATCTACCCATCCACCCA	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18			chr17	TogoVar
CDC42SE2_chr5_131259053_131399672	131278725	C C	CCCCTCTC others(590): Show CCCCTCTCCCCTCCCCATCCCCTCCCCCTCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTC CCCTTCCCCCTCCCCTCCCCTCCCCCTCCCTCCCCTCCCCTCCCTCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCC TCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	237	0.0042	597	c.-45 others(618): Show c.-455+14562_-455+14563insTCTCCCCTCCCCATCCCCTCCCCC TCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTC CCTCCCCTCCCCTCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCC CTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCC CCCTCCTCTCCCCCTCCCTTCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(590): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCTCCCCTCTCC CCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCC CCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	12	0.0833	597	c.-45 others(618): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCC CCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCTCCC CTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCT CTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP61_chr20_20047532_20365698	20357793	G G	GTACGGGA others(590): Show GTACGGGAGGTGGTCATACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGT GGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTG AGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTG GTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGA GGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGT GGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTG AGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTG GTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCATAGTGT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGT GGTCACACTGAGGAGAGGTGGTCATAGTGTGCGGGGAGGTGGTCACAC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	201	0.0050	597	c.351 others(616): Show c.3514-2416_3514-2415insACGGGAGGTGGTCATACTGAGGGGAG GTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGT GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTG TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGG TGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGT GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACAT TGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGT GTGCGGGGAGGTGGTCACACT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(590): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCTTCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCC TCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTC CTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCT CCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTC TCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03225.hp2 HG01884.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0267 a0001c0002t0026g0269 a0001c0002t0026g0267 a0001c0002t0026g0269	2	3	0.6667	597	c.162 others(618): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCC CCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCCTTCCTCCCCCTC TTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTT CCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCC CCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCC TTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCT CCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar

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