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
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(1045): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCC ACCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCT ATCCACCCCCCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCAT CCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCC CCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCCAC ATCCATCCTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCAC CCATCATCCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCAC CCATCATCCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCC GCCATCCACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATAC ATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCC ACCTACCCATCCATCCTATCCATCCACCCATCCACCCACCGTATCTATCC ACCCACCCACACTGTCCATCCACCCACCCACCCATCCACCCACCCACCTA TCCTATTCATCCATCCACCCACCCACCCTATCTATCCACCCACCCACCCA CACTATCCATCCACCCACCCAACCACCCATCCTATTCATCCATCCATCCA CCCACCCAGTCTATCCACCCACCCACCTATCCTATTCATCCATCCCCCCA CCCACCCTATCTATCCACCCACCCACACACCCACACTATCCACCCACCCA CACACCCTATCTACCCACCCAATATATCCACCCACCCACCTACACCATCC ACCCACCCACCCTATCTATCCACCCACCCACACTATCCATCCACCCACCT ATCCTATTCATCCATCCATCCACCTACCCAGCCAATTTATCCACCCACCC ACCTACCCTATCTATCCACCCATCCACCTATCCTATTCATCCATCCACCC ACC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	28	0.0357	1052	c.113 others(1071): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCCACCATCCCCCATCCTATCCACCC CCCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCA CCCACCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTAT CCACCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATC CTATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCC CATCCTATCCACCCCCCCCCACATCCATCCTATCCACCCACCCACCCACC ATCCACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCC CACACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCA TCCACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACC TACTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACC CACCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACC CATCCACCCACCGTATCTATCCACCCACCCACACTGTCCATCCACCCACC CACCCATCCACCCACCCACCTATCCTATTCATCCATCCACCCACCCACCC TATCTATCCACCCACCCACCCACACTATCCATCCACCCACCCAACCACCC ATCCTATTCATCCATCCATCCACCCACCCAGTCTATCCACCCACCCACCT ATCCTATTCATCCATCCCCCCACCCACCCTATCTATCCACCCACCCACAC ACCCACACTATCCACCCACCCACACACCCTATCTACCCACCCAATATATC CACCCACCCACCTACACCATCCACCCACCCACCCTATCTATCCACCCACC CACACTATCCATCCACCCACCTATCCTATTCATCCATCCATCCACCTACC CAGCCAATTTATCCACCCACCCACCTACCCTATCTATCCACCCATCCACC TATCCTATTCATCCATCCACCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TPCN2_chr11_69043932_69095597	69068342	C C	CTGGGAGC others(1045): Show CTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGG ACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACCGTCTGAGT CCTAGGAAGTGACCGCACTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTG ACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGGG AGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGT CTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAG GAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGC AGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACGGCAGTGGGAGCAG GACCGTCTGAGTCCTAGGAAGTGACCACAGGGGGAGCAGGACCGTCTGAG TCCTAGGAAGTGACCGCAGTGGGAGCAGGACCATCTGAGTCCTAGGAAGT GACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGG GAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCG TCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTA GGAAGTGACCGCAGTGGGAGCAGGACTGTCTGAGTCCTAGGAAGTGACCG CAGTGGGAGCAGGACTGTCTGAGTCCTAGGAAGTGACCACAGGGGGAGCA GGACTATCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTGTCTGA GTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTGTCTGAGTCCTAGCAAG TGACACAGGGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGG GAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACCG TCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTA GGAAGTTACCGCAGTGGGAGCAGGGCCGTCTGAGTCCTAAGAAGTGACCG CAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18945.hp1 NA18959.hp2 HG00438.hp2 NA18945.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0155 a0001c0001t0004g0039 a0001c0001t0004g0155	3	256	0.0117	1052	c.829 others(1067): Show c.829+853_829+854insCTGGGAGCAGGACCGTCTGAGTCCTAGGAA GTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACT GGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGAC CGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCC TAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGAC CGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACGGCAGTGGGAG CAGGACCGTCTGAGTCCTAGGAAGTGACCACAGGGGGAGCAGGACCGTCT GAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCATCTGAGTCCTAGGA AGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAC TGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGA CCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTC CTAGGAAGTGACCGCAGTGGGAGCAGGACTGTCTGAGTCCTAGGAAGTGA CCGCAGTGGGAGCAGGACTGTCTGAGTCCTAGGAAGTGACCACAGGGGGA GCAGGACTATCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTGTC TGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTGTCTGAGTCCTAGC AAGTGACACAGGGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAG TGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGA CCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTC CTAGGAAGTTACCGCAGTGGGAGCAGGGCCGTCTGAGTCCTAAGAAGTGA CCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGA GCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACCGTC TGAGTCCTAGGAAGTGACCGCA	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507379	T T	TACGTATA others(1045): Show TACGTATATATACATGTATTATACATACATAAATGTATATACGTATATAT ACATGTATTATACATACATAAATGTATATACGTATATATACATGTATTAT ACATACATAAATGTATATACGTATATATACATGTATTATACATACATAAA TGTATATACGTATATATACATGTATTATACATACATAAATGTATATACGT ATATATACATGTATTATACATACATAAATGTATATACGTATATATACATG TATTATACATACATAAATGTATATACGTATATATACATGTATTATACATA CATAAATGTATATACGTATATATACATGTATTATACATACATAAATGTAT ATACGTATATATACATGTATTATACATACATAAATGTATATACGTATATA TACATGTATTATACATACATAAATGTATATACGTATATATACATGTATTA TACATACATAAATGTATATACGTATATATACATGTATTATACATACATAA ATGTATATACGTATATATACATGTATTATACATACATAAATGTATATACG TATATATACATGTATTATACATACATAAATGTATATACGTATATATACAT GTATTATACATACATAAATGTATATACGTATATATACATGTATTATACAT ACGTAAATGTATATATACATTATACATACGTAAATGTATATATGTATATA TACATTATACATACGTAAATGTATATATGTATATATACATTATACATACG TAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTAT ATATACATTATACATACGTAAATGTATAATGTATATATACATTATACATA CGTAAATGTATATATGTATATATACATTATACATACGTAAATGTATATAT GTATATATACATTATACATACGTAAATGTATATATGTATATATACATTAT ACATACGTAAATGTATTATACATAAATGTATATATGTATATATACATGTA TTATACATACATAAATGTATATATGTATATATACATGTATTATACATACA TAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18612.hp1 HG03540.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0227 a0001c0001t0003g0245 a0001c0001t0003g0227 a0001c0001t0003g0245	2	362	0.0055	1052	c.-23 others(1069): Show c.-23+2668_-23+2669insTTATGTATGTATAATACATGTATATATA CATATATACATTTATGTATGTATAATACATGTATATATACATATATACAT TTATGTATAATACATTTACGTATGTATAATGTATATATACATATATACAT TTACGTATGTATAATGTATATATACATATATACATTTACGTATGTATAAT GTATATATACATATATACATTTACGTATGTATAATGTATATATACATTAT ACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTAT AATGTATATATACATTATACATTTACGTATGTATAATGTATATATACATA TATACATTTACGTATGTATAATGTATATATACATATATACATTTACGTAT GTATAATGTATATATACATTTACGTATGTATAATACATGTATATATACGT ATATACATTTATGTATGTATAATACATGTATATATACGTATATACATTTA TGTATGTATAATACATGTATATATACGTATATACATTTATGTATGTATAA TACATGTATATATACGTATATACATTTATGTATGTATAATACATGTATAT ATACGTATATACATTTATGTATGTATAATACATGTATATATACGTATATA CATTTATGTATGTATAATACATGTATATATACGTATATACATTTATGTAT GTATAATACATGTATATATACGTATATACATTTATGTATGTATAATACAT GTATATATACGTATATACATTTATGTATGTATAATACATGTATATATACG TATATACATTTATGTATGTATAATACATGTATATATACGTATATACATTT ATGTATGTATAATACATGTATATATACGTATATACATTTATGTATGTATA ATACATGTATATATACGTATATACATTTATGTATGTATAATACATGTATA TATACGTATATACATTTATGTATGTATAATACATGTATATATACGTATAT ACATTTATGTATGTATAATACATGTATATATACGTATATACATTTATGTA TGTATAATACATGTATATATACGT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(1045): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAACAACAACAACAAAGAAAAAAAAAAACAAATGAACA AAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTGT TTCACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCGGGGTTGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCAATAAGGTGTTTCACTCTTGTTGCCCGG GCTGTAGTGCAATGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCACCACCACGCCCCGCTAATTTTTCTATTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCTCCC GCCTCAGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCG ACCCGGTAGAGAATCTTAAGTATAAAACTTCTTTCTCTTATCATGTCATG ATAAAAACTATAAGGGCGGGGCTGGGCACGGTGGCTCACGCCTGTAATCC CAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	119	0.0084	1052	c.51 others(1063): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCGGTGGCTCATGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCTTATTGGC CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCAACCCCGCTAAAACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGG CGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGAGTGAAACACCATCTCAAAAACAACAACAACAACAAA AACTATCAGGGTGGTTTTTTGTTCATTTGTTTTTTTTTTTCTTTGTTGTT GTTGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCT GGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACC CGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGGTTT CACCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATCCACCCG CCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
ZNF605_chr12_132913306_132961306	132954429	A A	AGGAGAAG others(1045): Show AGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAGAAGGG TAGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGG AGAAGGGGCTTCAGTCACTCTTGCAGGTGAGGTGGGGAGGGGATGAGAAG GATGGGGGAGGAGAAGGGTGGGAGGGGAGGAGAAGGGTGGGAGGGGAGGA GAAGGGTGGGGAGGGGAGGAGAAGGGTAGGGAGGGGGGGAGAAGGGTGGG GAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTTGGGAGGGGAGGAAA AGGGTGGGGAGGGGAGGAGAAGTGTGGGGAGGGGGGAGAAGGGTGGGGAG GGGGGGAGAAGTGTGGGGACGGGGGGAGAAGTGTGGGGAGGGGGGAGAAG GGTGGGGAGGGGGGAGAAGTGTGGGGAGGGGGGGGAGAAGTGTGGGGACG GGGGGAGAAGTGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAG TGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGG GGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGT GGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGG AGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGG GGAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAG AAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGA GGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAG GGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGG GAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGT GGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGA GGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAAGGGGGAGAAGGGTG GGG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0091 a0001c0002t0040g0091	1	35	0.0286	1052	c.-28 others(1071): Show c.-286+1813_-286+1814insCCCCACCCTTCTCCCCCTTCCCCACC CTTCTCCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCC CCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCC TTCTCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCT CCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTC TCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCTCCCCTCC CCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCC CCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCCTCCCCA CCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCC CCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCC TTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCTCCCCT CCCCACCCTTCTCCCCCCCTCCCCACACTTCTCCCCCCCTCCCCACCCTT CTCCCCCCCTCCCCACACTTCTCCCCCCGTCCCCACACTTCTCCCCCCCC TCCCCACACTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACACTTC TCCCCCCGTCCCCACACTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCC CCACACTTCTCCTCCCCTCCCCACCCTTTTCCTCCCCTCCCAACCCTTCT CCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCCTCCCT ACCCTTCTCCTCCCCTCCCCACCCTTCTCCTCCCCTCCCACCCTTCTCCT CCCCTCCCACCCTTCTCCTCCCCCATCCTTCTCATCCCCTCCCCACCTCA CCTGCAAGAGTGACTGAAGCCCCTTCTCCCCCCTCCCCACCCTTCTCCCC CCTCCCCACCCTTCTCCCCCCTCCCTACCCTTCTCCTCCCCTCCCCACCC TTCTCCTCCCCTCCCCACCCTTCTCC	ZNF605	ENSG00000196458.11	transcript	ENST00000360187.9	protein_coding	1/4			chr12	TogoVar
ARHGAP18_chr6_129571132_129715177	129619467	A A	AGGGGGAG others(1046): Show AGGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGA AAAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGG AAGGGGAGGGGAAAGGGGAGGGGAAAGGGAGGAGAAACGGGAATGGAAGG GGAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGAAAACAG AGGAAGAGGATGAAGGGGAAGGGGGAAAACAGAGGGAGAGGATGAAGGGG AAGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGGA GGGGATGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCGA AGGGGGATGGGGAAGGGGGATGGGGGTGGGGAAGGGGGAGGGGGAGGGGA TGGGGAGGGGGGAGGGGAGGGGGATAGGGAAGGGGGATGGGGTGGGGAAG GGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGAGGGGAA GGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGGAAGGGGGATGAGG AAGGGGGAAGGGGGATGGGGAAGGGGGATAGGGAAGGGGGATGGGGAAGG GGGATAGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAA GGGGGATGGGAAGGGGGATGGGGAAGGGGGGAAGGGGGATGGGGAAGGGG GATGGGGAAGAGGGAAGGTCGATGGGGAAGGGGGATGGGGAAGGGGGATG GGGAAGGGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGAAGGTC GATGGGGAAGGGGGATGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGG GAAGGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGGATGGGGAAGG GGGGCAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGGA GATGGGGAAGGGGGGATGGGGAAGGGAGATGGGGAAGGGGAGGGGGAGGG GGAAGGGGAGGGGGAGGGGGAAGGGGGATGGGGAGGGGGAGGAGGAAGGG GGAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	236	0.0042	1053	c.787 others(1068): Show c.787-616_787-615insATCCCCCTTCCTCCTCCCCCTCCCCATCCC CCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCATCTCC CTTCCCCATCCCCCCTTCCCCATCTCCTCTTCCCCATCCCCCTTCCCCAT CCCCCTTCCCCATCCCCCTGCCCCCCTTCCCCATCCCCCTTCCCCATCCC CCTTCCACCCTTCCCCTCCCCTTCCCCATCCCCCTTCCACCCTTCCCCTC CCCTTCCCATCCCCCTTCCCCATCGACCTTCCCCCTTCCCCATCCCCCTT CCCCATCCCCCTTCCCCCCTTCCCCATCCCCCTTCCCCATCCCCCTTCCC CATCGACCTTCCCTCTTCCCCATCCCCCTTCCCCATCCCCCTTCCCCCCT TCCCCATCCCCCTTCCCATCCCCCTTCCCCATCCCCCTTCCCCATCCCCC TTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTTCCCTATCCC CCTTCCCCATCCCCCTTCCCCCTTCCTCATCCCCCTTCCCCCTTCCCCAT CCCCCTTCCACCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCC CCTTCCCCTCCCCCTCCCCTCCCCCTTCCCCACCCCATCCCCCTTCCCTA TCCCCCTCCCCTCCCCCCTCCCCATCCCCTCCCCCTCCCCCTTCCCCACC CCCATCCCCCTTCCCCATCCCCCTTCGCCTCCCCCTCCCCTCCACCTCCC CATCCCCTCCACCTCCCCATCCCCTCCACGTCCCCCTCCCCTCCAACCTC CCCCTCCCCTCCAACCTCCCCCTTCCCCTTCATCCTCTCCCTCTGTTTTC CCCCTTCCCCTTCATCCTCTTCCTCTGTTTTCCCCCTTCTCTTTCCCCTC CCCTTCCCCTCCCCTTTCTCCTCCCCTTCCATTCCCGTTTCTCCTCCCTT TCCCCTCCCCTTTCCCCTCCCCTTCCCCTCCCCTTTTGCCTCCCATTTCC CCTCCCGTTTCCCCTCCCCTTTTTTCTCTCCCCTTTTTCCTCTCCTTTTT CCCTCTCCCTCCTCCCCTCCCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
ARHGAP18_chr6_129571132_129715177	129619468	G G	GGGGGAGG others(1046): Show GGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGAA AAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGGA AGGGGAGGGGAAAGGGGAGGGGAAAGGGAGGAGAAACGGGAATGGAAGGG GAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGAAAACAGA GGAAGAGGATGAAGGGGAAGGGGGAAAACAGAGGGAGAGGATGAAGGGGA AGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGGAG GGGATGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCGAA GGGGGATGGGGAAGGGGGATGGGGGTGGGGAAGGGGGGAGGGGGAGGGGA TGGGGAGGGGGGAGGGGAGGGGGATAGGGAAGGGGGATGGGGTGGGGAAG GGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGAGGGGAA GGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGGAAGGGGGATGAGG AAGGGGGAAGGGGGATGGGGAAGGGGGATAGGGAAGGGGGATGGGGAAGG GGGATAGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGAAG GGGGATGGGGAAGGGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGG GAAGGTCGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGGAA GGGGGATGGGGAAGGGGGATGGGGAAGGGGGAAGGTCGATGGGGAAGGGG GATGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGAGGGGA AGGGTGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGG GGGGCAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGGA GATGGGGAAGGGGGGATGGGGAAGGGAGATGGGGAAGGGGAGGGGGAGGG GGAAGGGGAGGGGGAGGGGGAAGGGGGATGGGGAGGGGGAGGAGGAAGGG GGAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	3	0.3333	1053	c.787 others(1068): Show c.787-617_787-616insATCCCCCTTCCTCCTCCCCCTCCCCATCCC CCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCATCTCC CTTCCCCATCCCCCCTTCCCCATCTCCTCTTCCCCATCCCCCTTCCCCAT CCCCCTTCCCCATCCCCCTGCCCCCCTTCCCCATCCCCCTTCCCCATCCC CCTTCCCCATCCCCCTTCCACCCTTCCCCTCCCCTTCCCCATCCCCCTTC CACCCTTCCCCTCCCCTTCCCATCCCCCTTCCCCATCGACCTTCCCCCTT CCCCATCCCCCTTCCCCATCCCCCTTCCCCCCTTCCCCATCCCCCTTCCC CATCCCCCTTCCCCATCGACCTTCCCTCTTCCCCATCCCCCTTCCCCATC CCCCTTCCCCCCTTCCCCATCCCCCTTCCCATCCCCCTTCCCCATCCCCC TTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTTCCCTATCCC CCTTCCCCATCCCCCTTCCCCCTTCCTCATCCCCCTTCCCCCTTCCCCAT CCCCCTTCCACCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCC CCTTCCCCTCCCCCTCCCCTCCCCCTTCCCCACCCCATCCCCCTTCCCTA TCCCCCTCCCCTCCCCCCTCCCCATCCCCTCCCCCTCCCCCCTTCCCCAC CCCCATCCCCCTTCCCCATCCCCCTTCGCCTCCCCCTCCCCTCCACCTCC CCATCCCCTCCACCTCCCCATCCCCTCCACGTCCCCCTCCCCTCCAACCT CCCCCTCCCCTCCAACCTCCCCCTTCCCCTTCATCCTCTCCCTCTGTTTT CCCCCTTCCCCTTCATCCTCTTCCTCTGTTTTCCCCCTTCTCTTTCCCCT CCCCTTCCCCTCCCCTTTCTCCTCCCCTTCCATTCCCGTTTCTCCTCCCT TTCCCCTCCCCTTTCCCCTCCCCTTCCCCTCCCCTTTTGCCTCCCATTTC CCCTCCCGTTTCCCCTCCCCTTTTTTCTCTCCCCTTTTTCCTCTCCTTTT TCCCTCTCCCTCCTCCCCTCCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
ARHGAP18_chr6_129571132_129715177	129619468	G G	GGGGGAGG others(1046): Show GGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGAA AAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGGA AGGGGAGGGGAAAGGGGAGGGGAAAGGGAGGAGAAACGGGAATGGAAGGG GAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGAAAACAGA GGAAGAGGATGAAGGGGAAGGGGGAAAACAGAGGGAGAGGATGAAGGGGA AGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGGAG GGGATGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCGAA GGGGGATGGGGAAGGGGGATGGGGGTGGGGGAAGGGGGAGGGGGAGGGGA TGGGGAGGGGGGAGGGGAGGGGGATAGGGAAGGGGGATGGGGTGGGGAAG GGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGAGGGGAA GGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGGAAGGGGGATGAGG AAGGGGGAAGGGGGATGGGGAAGGGGGATAGGGAAGGGGGATGGGGAAGG GGGATAGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGAAG GGGGATGGGGAAGGGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGG GAAGGTCGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGGAA GGGGGATGGGGAAGGGGGATGGGGAAGGGGGAAGGTCGATGGGGAAGGGG GATGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGAGGGGA AGGGTGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGG GGGGCAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGGA GATGGGGAAGGGGGGATGGGGAAGGGAGATGGGGAAGGGGAGGGGGAGGG GGAAGGGGAGGGGGAGGGGGAAGGGGGATGGGGAGGGGGAGGGGGAAGGG GGAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	3	0.3333	1053	c.787 others(1068): Show c.787-617_787-616insATCCCCCTTCCCCCTCCCCCTCCCCATCCC CCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCATCTCC CTTCCCCATCCCCCCTTCCCCATCTCCTCTTCCCCATCCCCCTTCCCCAT CCCCCTTCCCCATCCCCCTGCCCCCCTTCCCCATCCCCCTTCCCCATCCC CCTTCCCCATCCCCCTTCCACCCTTCCCCTCCCCTTCCCCATCCCCCTTC CACCCTTCCCCTCCCCTTCCCATCCCCCTTCCCCATCGACCTTCCCCCTT CCCCATCCCCCTTCCCCATCCCCCTTCCCCCCTTCCCCATCCCCCTTCCC CATCCCCCTTCCCCATCGACCTTCCCTCTTCCCCATCCCCCTTCCCCATC CCCCTTCCCCCCTTCCCCATCCCCCTTCCCATCCCCCTTCCCCATCCCCC TTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTTCCCTATCCC CCTTCCCCATCCCCCTTCCCCCTTCCTCATCCCCCTTCCCCCTTCCCCAT CCCCCTTCCACCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCC CCTTCCCCTCCCCCTCCCCTCCCCCTTCCCCACCCCATCCCCCTTCCCTA TCCCCCTCCCCTCCCCCCTCCCCATCCCCTCCCCCTCCCCCTTCCCCCAC CCCCATCCCCCTTCCCCATCCCCCTTCGCCTCCCCCTCCCCTCCACCTCC CCATCCCCTCCACCTCCCCATCCCCTCCACGTCCCCCTCCCCTCCAACCT CCCCCTCCCCTCCAACCTCCCCCTTCCCCTTCATCCTCTCCCTCTGTTTT CCCCCTTCCCCTTCATCCTCTTCCTCTGTTTTCCCCCTTCTCTTTCCCCT CCCCTTCCCCTCCCCTTTCTCCTCCCCTTCCATTCCCGTTTCTCCTCCCT TTCCCCTCCCCTTTCCCCTCCCCTTCCCCTCCCCTTTTGCCTCCCATTTC CCCTCCCGTTTCCCCTCCCCTTTTTTCTCTCCCCTTTTTCCTCTCCTTTT TCCCTCTCCCTCCTCCCCTCCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
ARHGAP18_chr6_129571132_129715177	129619468	G G	GGGGGAGG others(1046): Show GGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGAA AAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGGA AGGGGAGGGGAAAGGGGAGGGGAAAGGGAGGAGAAACGGGAATGGAAGGG GAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGAAAACAGA GGAAGAGGATGAAGGGGAAGGGGGGAAAACAGAGGGAGAGGATGAAGGGG AAGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGGA GGGGATGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCGA AGGGGGATGGGGAAGGGGGATGGGGGTGGGGAAGGGGGAGGGGGAGGGGA TGGGGAGGGGGGAGGGGAGGGGGATAGGGAAGGGGGATGGGGTGGGGAAG GGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGAGGGGAA GGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGGAAGGGGGATGAGG AAGGGGGAAGGGGGATGGGGAAGGGGGATAGGGAAGGGGGATGGGGAAGG GGGATAGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGAAG GGGGATGGGGAAGGGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGG GAAGGTCGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGGAA GGGGGATGGGGAAGGGGGATGGGGAAGGGGGAAGGTCGATGGGGAAGGGG GATGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGAGGGGA AGGGTGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGG GGGGCAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGGA GATGGGGAAGGGGGGATGGGGAAGGGAGATGGGGAAGGGGAGGGGGAGGG GGAAGGGGAGGGGGAGGGGGAAGGGGGATGGGGAGGGGGAGGAGGAAGGG GGAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	3	0.3333	1053	c.787 others(1068): Show c.787-617_787-616insATCCCCCTTCCTCCTCCCCCTCCCCATCCC CCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCATCTCC CTTCCCCATCCCCCCTTCCCCATCTCCTCTTCCCCATCCCCCTTCCCCAT CCCCCTTCCCCATCCCCCTGCCCCCCTTCCCCATCCCCCTTCCCCATCCC CCTTCCCCATCCCCCTTCCACCCTTCCCCTCCCCTTCCCCATCCCCCTTC CACCCTTCCCCTCCCCTTCCCATCCCCCTTCCCCATCGACCTTCCCCCTT CCCCATCCCCCTTCCCCATCCCCCTTCCCCCCTTCCCCATCCCCCTTCCC CATCCCCCTTCCCCATCGACCTTCCCTCTTCCCCATCCCCCTTCCCCATC CCCCTTCCCCCCTTCCCCATCCCCCTTCCCATCCCCCTTCCCCATCCCCC TTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTTCCCTATCCC CCTTCCCCATCCCCCTTCCCCCTTCCTCATCCCCCTTCCCCCTTCCCCAT CCCCCTTCCACCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCC CCTTCCCCTCCCCCTCCCCTCCCCCTTCCCCACCCCATCCCCCTTCCCTA TCCCCCTCCCCTCCCCCCTCCCCATCCCCTCCCCCTCCCCCTTCCCCACC CCCATCCCCCTTCCCCATCCCCCTTCGCCTCCCCCTCCCCTCCACCTCCC CATCCCCTCCACCTCCCCATCCCCTCCACGTCCCCCTCCCCTCCAACCTC CCCCTCCCCTCCAACCTCCCCCTTCCCCTTCATCCTCTCCCTCTGTTTTC CCCCCTTCCCCTTCATCCTCTTCCTCTGTTTTCCCCCTTCTCTTTCCCCT CCCCTTCCCCTCCCCTTTCTCCTCCCCTTCCATTCCCGTTTCTCCTCCCT TTCCCCTCCCCTTTCCCCTCCCCTTCCCCTCCCCTTTTGCCTCCCATTTC CCCTCCCGTTTCCCCTCCCCTTTTTTCTCTCCCCTTTTTCCTCTCCTTTT TCCCTCTCCCTCCTCCCCTCCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
ARHGAP18_chr6_129571132_129715177	129619468	G G	GGGGGAGG others(1046): Show GGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGAA AAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGGA AGGGGAGGGGAAAGGGGAGGGGAAAGGGAGGAGAAACGGGAATGGAAGGG GAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGAAAACAGA GGGAGAGGATGAAGGGGAAGGGGGAAAACAGAGGGAGAGGATGAAGGGGA AGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGGAG GGGATGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCGAA GGGGGATGGGGAAGGGGGATGGGGGTGGGGAAGGGGGAGGGGGAGGGGAT GGGGAGGGGGGAGGGGAGGGGGATAGGGAAGGGGGATGGGGTGGGGAAGG GGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGAGGGGAAG GGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGGAAGGGGGATGAGGA AGGGGGAAGGGGGATGGGGAAGGGGGATAGGGAAGGGGGATGGGGAAGGG GGATAGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGAAGG GGGATGGGGAAGGGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGGG AAGGTCGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGGAAG GGGGATGGGGAAGGGGGATGGGGAAGGGGGAAGGTCGATGGGGAAGGGGG ATGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGAGGGGAA GGGTGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGG GGGCAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGGAG ATGGGGAAGGGGGGGATGGGGAAGGGAGATGGGGAAGGGGAGGGGGAGGG GGAAGGGGAGGGGGAGGGGGAAGGGGGATGGGGAGGGGGAGGAGGAAGGG GGAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	3	0.3333	1053	c.787 others(1068): Show c.787-617_787-616insATCCCCCTTCCTCCTCCCCCTCCCCATCCC CCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCATCTCC CTTCCCCATCCCCCCCTTCCCCATCTCCTCTTCCCCATCCCCCTTCCCCA TCCCCCTTCCCCATCCCCCTGCCCCCCTTCCCCATCCCCCTTCCCCATCC CCCTTCCCCATCCCCCTTCCACCCTTCCCCTCCCCTTCCCCATCCCCCTT CCACCCTTCCCCTCCCCTTCCCATCCCCCTTCCCCATCGACCTTCCCCCT TCCCCATCCCCCTTCCCCATCCCCCTTCCCCCCTTCCCCATCCCCCTTCC CCATCCCCCTTCCCCATCGACCTTCCCTCTTCCCCATCCCCCTTCCCCAT CCCCCTTCCCCCCTTCCCCATCCCCCTTCCCATCCCCCTTCCCCATCCCC CTTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTTCCCTATCC CCCTTCCCCATCCCCCTTCCCCCTTCCTCATCCCCCTTCCCCCTTCCCCA TCCCCCTTCCACCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTC CCCTTCCCCTCCCCCTCCCCTCCCCCTTCCCCACCCCATCCCCCTTCCCT ATCCCCCTCCCCTCCCCCCTCCCCATCCCCTCCCCCTCCCCCTTCCCCAC CCCCATCCCCCTTCCCCATCCCCCTTCGCCTCCCCCTCCCCTCCACCTCC CCATCCCCTCCACCTCCCCATCCCCTCCACGTCCCCCTCCCCTCCAACCT CCCCCTCCCCTCCAACCTCCCCCTTCCCCTTCATCCTCTCCCTCTGTTTT CCCCCTTCCCCTTCATCCTCTCCCTCTGTTTTCCCCCTTCTCTTTCCCCT CCCCTTCCCCTCCCCTTTCTCCTCCCCTTCCATTCCCGTTTCTCCTCCCT TTCCCCTCCCCTTTCCCCTCCCCTTCCCCTCCCCTTTTGCCTCCCATTTC CCCTCCCGTTTCCCCTCCCCTTTTTTCTCTCCCCTTTTTCCTCTCCTTTT TCCCTCTCCCTCCTCCCCTCCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
ARHGAP18_chr6_129571132_129715177	129619468	G G	GGGGGAGG others(1046): Show GGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGAA AAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGGA AGGGGAGGGGAAAGGGGAGGGGAAAGGGAGGAGAAACGGGAATGGAAGGG GAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGGAAAACAG AGGAAGAGGATGAAGGGGAAGGGGGAAAACAGAGGGAGAGGATGAAGGGG AAGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGGA GGGGATGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCGA AGGGGGATGGGGAAGGGGGATGGGGGTGGGGAAGGGGGAGGGGGAGGGGA TGGGGAGGGGGGAGGGGAGGGGGATAGGGAAGGGGGATGGGGTGGGGAAG GGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGAGGGGAA GGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGGAAGGGGGATGAGG AAGGGGGAAGGGGGATGGGGAAGGGGGATAGGGAAGGGGGATGGGGAAGG GGGATAGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGAAG GGGGATGGGGAAGGGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGG GAAGGTCGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGGAA GGGGGATGGGGAAGGGGGATGGGGAAGGGGGAAGGTCGATGGGGAAGGGG GATGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGAGGGGA AGGGTGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGG GGGGCAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGGA GATGGGGAAGGGGGGATGGGGAAGGGAGATGGGGAAGGGGAGGGGGAGGG GGAAGGGGAGGGGGAGGGGGAAGGGGGATGGGGAGGGGGAGGAGGAAGGG GGAT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	3	0.3333	1053	c.787 others(1068): Show c.787-617_787-616insATCCCCCTTCCTCCTCCCCCTCCCCATCCC CCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCATCTCC CTTCCCCATCCCCCCTTCCCCATCTCCTCTTCCCCATCCCCCTTCCCCAT CCCCCTTCCCCATCCCCCTGCCCCCCTTCCCCATCCCCCTTCCCCATCCC CCTTCCCCATCCCCCTTCCACCCTTCCCCTCCCCTTCCCCATCCCCCTTC CACCCTTCCCCTCCCCTTCCCATCCCCCTTCCCCATCGACCTTCCCCCTT CCCCATCCCCCTTCCCCATCCCCCTTCCCCCCTTCCCCATCCCCCTTCCC CATCCCCCTTCCCCATCGACCTTCCCTCTTCCCCATCCCCCTTCCCCATC CCCCTTCCCCCCTTCCCCATCCCCCTTCCCATCCCCCTTCCCCATCCCCC TTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTTCCCTATCCC CCTTCCCCATCCCCCTTCCCCCTTCCTCATCCCCCTTCCCCCTTCCCCAT CCCCCTTCCACCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCC CCTTCCCCTCCCCCTCCCCTCCCCCTTCCCCACCCCATCCCCCTTCCCTA TCCCCCTCCCCTCCCCCCTCCCCATCCCCTCCCCCTCCCCCTTCCCCACC CCCATCCCCCTTCCCCATCCCCCTTCGCCTCCCCCTCCCCTCCACCTCCC CATCCCCTCCACCTCCCCATCCCCTCCACGTCCCCCTCCCCTCCAACCTC CCCCTCCCCTCCAACCTCCCCCTTCCCCTTCATCCTCTCCCTCTGTTTTC CCCCTTCCCCTTCATCCTCTTCCTCTGTTTTCCCCCCTTCTCTTTCCCCT CCCCTTCCCCTCCCCTTTCTCCTCCCCTTCCATTCCCGTTTCTCCTCCCT TTCCCCTCCCCTTTCCCCTCCCCTTCCCCTCCCCTTTTGCCTCCCATTTC CCCTCCCGTTTCCCCTCCCCTTTTTTCTCTCCCCTTTTTCCTCTCCTTTT TCCCTCTCCCTCCTCCCCTCCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(1046): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCAC CCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCC CCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGC CCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCT GGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCC CGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	223	0.0045	1053	c.36 others(1064): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTC CGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCG CAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGC GTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCA GCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
CAMK1D_chr10_12344547_12840545	12776122	A A	AGACTGTG others(1046): Show AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGC ATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACT GTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCA TTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTG TGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCAT TGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGT GAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATT GATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTG AGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTG ATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGA GAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGA TCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAG AAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGAT CAGC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	9	0.1111	1053	c.565 others(1070): Show c.565+6323_565+6324insGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTG AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGC ATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACT GTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCA TTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTG TGAGAAGGCTCAGGCATTGATCAGC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882314	G G	GGGAGAAG others(1046): Show GGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGA AAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAA AGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGG GGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAG AAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGG AAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGA AAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGC CGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGG GAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAG GAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGG AAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAG CCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGG GGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAG AAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGG AAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGA AAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGC CGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGG GGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGA AGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGA AAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAA AGCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0024 a0002c0004t0024	a0002c0004t0024g0142 a0002c0004t0024g0142	1	270	0.0037	1053	c.303 others(1072): Show c.303+23807_303+23808insGGCTTTCCTTTCCTTCTCCCCGCGGC TTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCT TTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCC TTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCC CCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGGCTTT CCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTT TCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCT TCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTC CCCGCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCG GCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGGCTTTC CTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTT CCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCT CCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTT CCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTT TCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTC TCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCC CGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGC TTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCT TTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTT CTCCCGCCGGCTTTCCTTTCCTTCTCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CFAP61_chr20_20047532_20365698	20320494	A A	AATATAAT others(1046): Show AATATAATATATGTAATATATATTATATATGTAATATATATTACATATAT TATATATGCAATATATATTATATATATTATATATGCAATATATATTATAT ATATTATATATGCAATATATATTATATATATTATATATGCAATATATATT ATATATGCAATATATATTATATATATTATATATGCAATATATATTATATA TATTACATATGTAATATATATTACATATGTAATATATAATATATTATATA TTACATATGTAATATATAATATATATTACATATGTAATATATAATATATA TTACATATGTAATATATAATATATATTACATATGTAATATATTATATATT ACATATGTAATATATTATATATTACATATGTAATATATAATATATTACAT ATGTAATATATAATATATTATATATGTAATATATATTACATATATAATAT ATATAATATATATGTAATATATTATATATATTATATATGTAATATATATT ACATATATAATATATATTATATATATTACATATATTATATATGTAATATA TATTACATATGTAATATATGTAATATATATTACATATGTAATATATATTA TATATGTAATATATATTACATATATTATATATGTAATATATATTATATAT ATTATATATGTAATGTATAATATATATATTATATATGTAATATATATTAT ATATAATATATGTAATATATATTATATATGTAATGTATATTATATATATT ATATATGTAATGTATATTATATATAATATATGTAATGTATATTATATATG TAATATATATTATATATATTATATATGTAATATATATTATATATATTATA TATGTAATATATATTATATATATTATATATGTAATATATATTATATATAT TATATATGTAATATATATTATATATATTATATATGTAATATATATTATAT ATATTATATATGTAATATATATTATATATATTATATATGTAATATATATT ATATATATTATATATGTAATATATATTATATATATTATATATGTAATATA TATT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0150	1	211	0.0047	1053	c.342 others(1074): Show c.3423-21332_3423-21331insATATATGTAATATATATTATATAT GTAATATATATTACATATATTATATATGCAATATATATTATATATATTAT ATATGCAATATATATTATATATATTATATATGCAATATATATTATATATA TTATATATGCAATATATATTATATATGCAATATATATTATATATATTATA TATGCAATATATATTATATATATTACATATGTAATATATATTACATATGT AATATATAATATATTATATATTACATATGTAATATATAATATATATTACA TATGTAATATATAATATATATTACATATGTAATATATAATATATATTACA TATGTAATATATTATATATTACATATGTAATATATTATATATTACATATG TAATATATAATATATTACATATGTAATATATAATATATTATATATGTAAT ATATATTACATATATAATATATATAATATATATGTAATATATTATATATA TTATATATGTAATATATATTACATATATAATATATATTATATATATTACA TATATTATATATGTAATATATATTACATATGTAATATATGTAATATATAT TACATATGTAATATATATTATATATGTAATATATATTACATATATTATAT ATGTAATATATATTATATATATTATATATGTAATGTATAATATATATATT ATATATGTAATATATATTATATATAATATATGTAATATATATTATATATG TAATGTATATTATATATATTATATATGTAATGTATATTATATATAATATA TGTAATGTATATTATATATGTAATATATATTATATATATTATATATGTAA TATATATTATATATATTATATATGTAATATATATTATATATATTATATAT GTAATATATATTATATATATTATATATGTAATATATATTATATATATTAT ATATGTAATATATATTATATATATTATATATGTAATATATATTATATATA TTATATATGTAATATATATTATATATATTATATATGTAATATATATTATA TATATTATATATGTAATATATATTATATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP74_chr1_1916957_2008786	1929384	G G	GGAGGGGA others(1046): Show GGAGGGGACAGGTCTGGGGAGGCAGGAGAGAGGGTGAGGGGAGGCAGGGG AGATGGTGAGGGGAGGGAGGGAGGGGAGAGGGTGGGGGAGGGAGGGGAGA GGGTAGGGGAGGGAGGAAGAGGAGGGGAGAGGGTAGGGAGGGAGAGGAGG GGAGAAGGGAGGGGACGCAGGGAGGGGAGAGGAAAGAGGAGGGAGGGGAG AGGGGAGGGAGGGGAGCGGGTAGGGGAGGGAAGGAGGGGAAATGGTATGG GAGGGAGGGAGGGGAGAGGGTAGGGGAGAGAGGGAGCAGAGGGGAAAGGG TAGGGGAGGGAAGGAAGGGAGAGGGTAGGGGAGGTAGGGAGGGAGGGGAG AGGGTAGGGGAGGGGAGAGGGTAGGGGAGGGAAGGAGGGGAGACGGTAGA GGAGGGAGGAGGGGAGAGGGTAGGGGAGGGAGGAAGAGGAGGGGAGAGGG TAGGGAGGGAGGGAGAGGAGAGGGGAGGGAGGGGAGGAGGGGAGAGGGTA GGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGGAGAGGG GAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGGAGAG GGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGGAG GGGAGAGGGTAGGGGAGGGAAGGAGGAGAGAGGGTAGAGGAGGGAGGAGG GGAGAGGGGAGGGGAGGGAGGAAGAGGAGGGGAGAGGGTAGGGAGGGAGA GGAGAGGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGG AGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGGAG AGGGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGA GGAGGGAGGGAGGGCAGGAGGGGAGAGGGTAGGGAGGGAGGGCAGGAGGG GAGAGGGTAGGGAGGGAGGGGAGGAAGGGAGAGGGTAGGGAGGGGAGGAG GGGAGAGGGTAGGGAGGGAGAGGAGGGGAGAGGGTAGGGAGGGAGAGGAG GGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0100 a0002c0001t0001g0100	1	8	0.1250	1053	c.328 others(1070): Show c.3289-503_3289-502insTCCCCTCCTCTCCCTCCCTACCCTCTCC CCTCCTCTCCCTCCCTACCCTCTCCCCTCCTCCCCTCCCTACCCTCTCCC TTCCTCCCCTCCCTCCCTACCCTCTCCCCTCCTGCCCTCCCTCCCTACCC TCTCCCCTCCTGCCCTCCCTCCCTCCTCTCTCCCTCCCTCCCTACCCTCT CCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCCTCCCTCCCTACCCT CTCCCCTCCTCCCCTCCCTCCCTCCTCCTCTCCCTCCCTCCCTACCCTCT CCCCTCCTCCCCTCCCTCCCCTCTCCTCTCCCTCCCTACCCTCTCCCCTC CTCTTCCTCCCTCCCCTCCCCTCTCCCCTCCTCCCTCCTCTACCCTCTCT CCTCCTTCCCTCCCCTACCCTCTCCCCTCCTCTCCCTCCCTCCCTACCCT CTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCCTCCCTCCCTACC CTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCCTCCCTCCCTA CCCTCTCCCCTCCTCCCCTCCCTCCCTACCCTCTCCCCTCCTCCCCTCCC TCCCCTCTCCTCTCCCTCCCTCCCTACCCTCTCCCCTCCTCTTCCTCCCT CCCCTACCCTCTCCCCTCCTCCCTCCTCTACCGTCTCCCCTCCTTCCCTC CCCTACCCTCTCCCCTCCCCTACCCTCTCCCCTCCCTCCCTACCTCCCCT ACCCTCTCCCTTCCTTCCCTCCCCTACCCTTTCCCCTCTGCTCCCTCTCT CCCCTACCCTCTCCCCTCCCTCCCTCCCATACCATTTCCCCTCCTTCCCT CCCCTACCCGCTCCCCTCCCTCCCCTCTCCCCTCCCTCCTCTTTCCTCTC CCCTCCCTGCGTCCCCTCCCTTCTCCCCTCCTCTCCCTCCCTACCCTCTC CCCTCCTCTTCCTCCCTCCCCTACCCTCTCCCCTCCCTCCCCCACCCTCT CCCCTCCCTCCCTCCCCTCACCATCTCCCCTGCCTCCCCTCACCCTCTCT CCTGCCTCCCCAGACCTGTCCCCTC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	26/38			chr1	TogoVar
CFAP97D2_chr13_114174257_114228085	114198654	T T	TGTACGGT others(1046): Show TGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGGGTACGGTCCC CACTGAGGCGTGACAGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGT GACGGCGCGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACGGCGCGTC CCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTAC GGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCG AGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCTGAGGCGTGACGG CGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGT GCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCC CCGCTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCTGAGGGG TGACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCGCGT CCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTA CGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCT GAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACG GCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCG TGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTC CCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGG GTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCG TCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGT ACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGC TGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTGAC GGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCC GTGC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0152 a0001c0001t0004g0152	1	376	0.0027	1053	c.172 others(1070): Show c.172-1671_172-1670insGTACGGTCCCCGCTGAGGGGTGACGGCG CGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACAGCGCGTCCCCGTGG GTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCC ACTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTG ACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCC CCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACG GTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGA GGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGC GCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTG GGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCC CGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGT GACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTC CCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTAC GGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTG AGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGG CGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGT GCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCC CCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGG TGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGT CCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTA CGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCT GAGGGGTGACGGCGCGTCCCCGTGC	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3			chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199905	A A	ACGGTCCC others(1046): Show ACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGC CGAGGCGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCCGAGGGGTGAC GGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCC GTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGT CCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGG CGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGC GTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGG TACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCG CCGAGGCGTGACGGCGCTTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGA CGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCC CGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGG TCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAG GCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCG CGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGG GTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCC GCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCTGAGGCGTG ACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGCGTGACAGCGCGTCC CCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGCTTACG GTCCCCGCTGAGGGGTGACAGTGGGTCCCTGTGTGTTCGGTCCCCGCTGA GGGGTGACGGCGTGTCCCCGTGTGTACGGTCCCCGCCGAGGCGTGACGGC GTGTCCCCGTGGGTACGGTCCCCGCTGAGGGGTGACAGTGGGTCCCTGTG TGTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0316 a0001c0001t0010g0317 a0001c0001t0001g0316 a0001c0001t0010g0317	2	398	0.0050	1053	c.172 others(1068): Show c.172-411_172-410insCCGAGGCGTGACGGCGCGTCCCCGTGGGTA CGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCC GAGGGGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACG GCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCG TGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTC CCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGC GTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCG TCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGT ACGGTCCCCGCCGAGGCGTGACGGCGCTTCCCCGTGGGTACGGTCCCCGC CGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGAC GGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCC GTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGT CCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGG CGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGC GTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGG TACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCG CTGAGGCGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGCGTGA CAGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCC CGTGCTTACGGTCCCCGCTGAGGGGTGACAGTGGGTCCCTGTGTGTTCGG TCCCCGCTGAGGGGTGACGGCGTGTCCCCGTGTGTACGGTCCCCGCCGAG GCGTGACGGCGTGTCCCCGTGGGTACGGTCCCCGCTGAGGGGTGACAGTG GGTCCCTGTGTGTTCGGTCCCCG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CHMP1A_chr16_89639435_89662708	89647826	C C	CGGGGTCG others(1046): Show CGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCG GTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAA AAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGC CGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGG AGACCCAGTGCGGGGATCGGTGGAGAAAAGGCCGCCGACGTGGACACCCA GTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGACACCCAGTGCGGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACAC CCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCG GGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGT GGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAA GGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCG ACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAG ACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTG CGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCG GTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAA AAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGC CGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGG ACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG TGCG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	385	0.0026	1053	c.253 others(1068): Show c.253-496_253-495insCGCACTGGGTCTCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCA CTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGT CCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCG GCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTT TTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCAC CGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCG CACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGT CTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGT CGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCC TTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCC ACCGACCCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTC TCCACCGATCCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCA CTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCT CCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCG GCGGCCTTTTCTCCACCGACCCC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CLPTM1L_chr5_1312752_1350099	1333251	C C	CGGATGAG others(1046): Show CGGATGAGGATAAGGGGGGGACTACTGTATACACACCGGATGAGGATAAG GGGGGACTACTGTATACACACCGGATGAGGATAAGGGGAGACTACTGTAT ACACACGGGATGAGGATGAGGGACTATTGTATACACACCAGATGAGGATA AGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGGACTACTG TAGACACACGGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATG AGGATAAGGGGGGGACTACTGTAGATACACGGGATGAGGATAAGGGGGGA CTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACAC CGGATGAGGATAAGGGGGGACTACTGTATACACACACGGGATGAGGATAA GGGGGGACTACTGTATACACACGGGATGAGGATGAGGGACTATTGTATAC ACACCAGATGAGGATAAGGGGGGACTACTGTAGACACACCGGATGAGGAT AAGGGGGGACTACTGTATACACACCAGATGAAGATAAGGGGGGACTACTG TAGATACACGGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATG AGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGAC TACTGTAGATACACGGGATGAGGATAAGGGGGGACTACTGTATACACACC GGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGG GGGACTACTGTAAACACACGGGATGAGGATGAGGGACTATTGTATACACA CTAGATGAGGATAAGGGGGGACTACTGTAGATACACGGGATGAGGATAAG GGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTAT ACACACCGGATGAGGATAAGGGGGGACTACTGTATACACATTGGATGAGG ATAAGGGGGGACTATTGTATACACACCAGATGAGGATAAGGGGGGACTAC TGTATACACACCGGATGAGGATAAGGGGGGGACTACTGTATACACACCGG ATGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	302	0.0033	1053	c.891 others(1070): Show c.891+1037_891+1038insTCATCCGGTGTGTATACAGTAGTCCCCC CCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTG GTGTGTATACAATAGTCCCCCCTTATCCTCATCCAATGTGTATACAGTAG TCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTC ATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTATCTAC AGTAGTCCCCCCTTATCCTCATCTAGTGTGTATACAATAGTCCCTCATCC TCATCCCGTGTGTTTACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTAT ACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCT TATCCTCATCCCGTGTATCTACAGTAGTCCCCCCTTATCCTCATCTGGTG TGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCC CCCCTTATCCTCATCCCGTGTATCTACAGTAGTCCCCCCTTATCTTCATC TGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTCTACAGT AGTCCCCCCTTATCCTCATCTGGTGTGTATACAATAGTCCCTCATCCTCA TCCCGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTGTATA CAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTT ATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGT ATCTACAGTAGTCCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCC CCCCTTATCCTCATCCCGTGTGTCTACAGTAGTCCCCCCCTTATCCTCAT CTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAA TAGTCCCTCATCCTCATCCCGTGTGTATACAGTAGTCTCCCCTTATCCTC ATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATAC AGTAGTCCCCCCCTTATCCTCATCC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
COL18A1_chr21_45400165_45518720	45500919	T T	TGTGTTGG others(1046): Show TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTCTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG TGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGT TGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT GTAGTGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT GTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0069 a0001c0003t0001g0069	1	284	0.0035	1053	c.268 others(1072): Show c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTCTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTG TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTT GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTG TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
DCDC2C_chr2_3698575_3853008	3725401	G G	GGCAGAGA others(1046): Show GGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGGAGACGAGCAGA GAGGGAGGAGGCTGCCAGGTGGATCCTGGAGGGAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATG GCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAGTGAGGAGGCTGCCAGG TGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATC CCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAG GGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGGAGAC GAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAG AGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGG AGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGTGAGGAGGCTGCCA GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGA TCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGA GGGAGATGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGA CGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCA GAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGAGAGGG AGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCA GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGA TCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAG ACGA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA19081.hp2 HG02074.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0250 a0001c0001t0006g0251 a0001c0001t0006g0250 a0001c0001t0006g0251	2	175	0.0114	1053	c.340 others(1070): Show c.340-1594_340-1593insGGAGGAGGCTGCCAGGTGGATCCCGGAG GGAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCTGGAGGGAGAC GAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCAG AGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAGTGA GGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGAT CCCAGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGA GGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGA CGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCA GAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGT GAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCA GGTGGATCCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCAGGTGGA TCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGG AGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGA TGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCA GAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGG GAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC AGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGG ATCCCAGAGGAAGACGAGCAGAGAG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725401	G G	GGCAGAGA others(1046): Show GGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGGAGACGAGCAGA GAGGGAGGAGGCTGCCAGGTGGATCCTGGAGGGAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATG GCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAGTGAGGAGGCTGCCAGG TGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATC CCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAG GGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGGAGAC GAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAG AGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGG AGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGTGAGGAGGCTGCCA GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGA TCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGA GGGAGATGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGA CGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCA GAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGAGAGGG AGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCA GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGA TCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAG ACGA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0252 a0001c0001t0004g0252	1	174	0.0057	1053	c.340 others(1070): Show c.340-1594_340-1593insGGAGGAGGCTGCCAGGTGGATCCCGGAG GGAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCTGGAGGGAGAC GAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCAG AGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAGTGA GGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGAT CCCAGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGA GGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGA CGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCA GAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGT GAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCA GGTGGATCCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCAGGTGGA TCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGG AGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGA TGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCA GAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGG GAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC AGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGG ATCCCAGAGGAAGACGAGCAGAGAG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1046): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGGGAGGAGGAGGAGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGAGGAGGGAGGAGGAGGGGGGAGGAGGAGGGGGGAGGAG GAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGAGGA GGAGGGAGGAGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGG GAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGGGGAG GAGGGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGA GGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGA GGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG GAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGG AGGGAGGAGGAGGAGGGAGGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAG GAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAG GAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAG GGAGGAAGGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAG GAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGGGGA GGAGGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGAGGAGGGAGGAGGAG GAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGA GGAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0219 a0007c0010t0001g0219	1	98	0.0102	1053	c.118 others(1072): Show c.11806-562_11806-561insCTCCTCCTCCTCCTCCCTCCTCCTCC TCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTC CCCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCCTCCTCCTCCTCCTCC TCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCC TCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCC CTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTCCTCCTCCCTCCTCCTC CTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCC TCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCT CCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCT CCTCCCTCCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCC TCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCC TCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCC TCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCC CTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCC CTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCC TCCCCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCCTCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTC CTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCC TCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1046): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGA GAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGG AGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGG AGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGG GGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGGGG AGGAGGGGGAGGAGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAG GGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAG GAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGGAGGAG GGAGGAGGAGGGAGGGAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGA GGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGA GGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGAGGAG GAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGG AGGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGAGG AGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAG GAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGA GGAGGAGGAGGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGGGGAGGAG GAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGA GGAG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0007 a0007	a0007c0051 a0007c0051	a0007c0051t0001 a0007c0051t0001	a0007c0051t0001g0182 a0007c0051t0001g0182	1	98	0.0102	1053	c.118 others(1072): Show c.11806-562_11806-561insCTCCTCCTCCTCCCCCCTCCTCCTCC TCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CCTCCTCCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCC TCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCC TCCTCCTTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCT CCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCCTCCT CCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCC TCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTC CTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCC CTCCTCCTCCCTCCCTCCCTCCTCCTCCCTCCTCCCTCCCTCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCT CCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCC CTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCC TCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCC CTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCT CCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTC CCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCT CCTCCCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCC TCCTCCCTCCTCCTCCTCCTCCTCCCTCTCCTCCTCCTCCCTCCTCCTCC TCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCC TCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DOCK8_chr9_209865_470255	400070	T T	TCACCATC others(1046): Show TCACCATCACCACCACCTCCACTATCACCACCACCACCACCTCCACCATC ACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCACCAC CTCCACTATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCA CCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCC ACCATCACCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCAC CATCACCACCACCTCCACTATCACCACCACCTCCACCATCACCACCACCA CCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATC ACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCA CCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCAC CACCTCCACCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCCA CCATCACCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACC ACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCAC CACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCA CCATCACCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACC ATCACCACCACCTCCACCATCACCACCACCACCACCTCCACCATCACCAC CTCCTTCACCATCACCATCACCTCCACCTCCACCATCACCACCACCACCT CCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACC TCCTTCACCATCACCATCACCTCCACCTCCACCATCACCACCACCACCTC CACCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCA CCTC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0005 a0005	a0005c0160 a0005c0160	a0005c0160t0005 a0005c0160t0005	a0005c0160t0005g0129 a0005c0160t0005g0129	1	209	0.0048	1053	c.323 others(1070): Show c.3234+832_3234+833insTATCACCACCACCACCACCTCCACCATC ACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCACCAC CTCCACTATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCA CCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCC ACCATCACCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCAC CATCACCACCACCTCCACTATCACCACCACCTCCACCATCACCACCACCA CCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATC ACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCA CCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCAC CACCTCCACCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCCA CCATCACCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACC ACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCAC CACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCA CCATCACCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACC ATCACCACCACCTCCACCATCACCACCACCACCACCTCCACCATCACCAC CTCCTTCACCATCACCATCACCTCCACCTCCACCATCACCACCACCACCT CCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACC TCCTTCACCATCACCATCACCTCCACCTCCACCATCACCACCACCACCTC CACCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCA CCTCCACCATCACCACCACCTCCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DYSF_chr2_71448561_71691763	71618373	A A	ATGTGTGG others(1046): Show ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTCTGGGGT ACAGTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGTGTGT GTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGT GGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGG AGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA GAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTG TGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGG GGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGT GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT GTGTGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA GAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGG GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGT TTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAG GTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGG TGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTG TGTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0027 a0027	a0027c0028 a0027c0028	a0027c0028t0004 a0027c0028t0004	a0027c0028t0004g0047 a0027c0028t0004g0047	1	108	0.0093	1053	c.441 others(1072): Show c.4410+4978_4410+4979insTGTGTGTGGTAGAGGTGGTGTGTGTG TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT AGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTG TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG TCTGGGGTACAGTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAG GTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGG GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGT GTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT GTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGG TAGAGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGT GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT AGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGA GTGTGTGTGTGTGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT GTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTA GAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGAT GTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG TGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGT GGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAG TAGAGGTGTGTGTGTGTGGTAGAGGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71618373	A A	ATGTGTGG others(1046): Show ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGT ACAGTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGTGTGT GTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGT GGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGG AGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA GAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTG TGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGG GGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGT GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT GTGTGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA GAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGG GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGT TTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAG GTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGG TGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTG TGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0018 a0018	a0018c0068 a0018c0068	a0018c0068t0004 a0018c0068t0004	a0018c0068t0004g0100 a0018c0068t0004g0100	1	108	0.0093	1053	c.441 others(1072): Show c.4410+4978_4410+4979insTGTGTGTGGTAGAGGTGGTGTGTGTG TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT AGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTG TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG TGTGGGGTACAGTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAG GTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGG GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGT GTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT GTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGG TAGAGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGT GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT AGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGA GTGTGTGTGTGTGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT GTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTA GAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGAT GTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG TGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGT GGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAG TAGAGGTGTGTGTGTGTGGTAGAGGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618373	A A	ATGTGTGG others(1046): Show ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTCTGGGGT ACAGTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGTGTGT GTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGT GGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGG AGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA GAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTG TGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGG GGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGT GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT GTGTGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA GAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGG GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGT TTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAG GTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGG TGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTG TGTG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0029 a0029	a0029c0029 a0029c0029	a0029c0029t0005 a0029c0029t0005	a0029c0029t0005g0083 a0029c0029t0005g0083	1	120	0.0083	1053	c.446 others(1072): Show c.4465-2159_4465-2158insTGTGTGTGGTAGAGGTGGTGTGTGTG TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT AGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTG TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG TCTGGGGTACAGTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAG GTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGG GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGT GTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT GTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGG TAGAGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGT GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT AGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGA GTGTGTGTGTGTGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT GTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTA GAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGAT GTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG TGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGT GGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAG TAGAGGTGTGTGTGTGTGGTAGAGGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618373	A A	ATGTGTGG others(1046): Show ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGT ACAGTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGTGTGT GTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGT GGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGG AGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA GAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTG TGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGG GGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGT GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT GTGTGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA GAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGG GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGT TTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAG GTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGG TGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTG TGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0019 a0019	a0019c0071 a0019c0071	a0019c0071t0005 a0019c0071t0005	a0019c0071t0005g0077 a0019c0071t0005g0077	1	120	0.0083	1053	c.446 others(1072): Show c.4465-2159_4465-2158insTGTGTGTGGTAGAGGTGGTGTGTGTG TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT AGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTG TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG TGTGGGGTACAGTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAG GTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGG GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGT GTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT GTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGG TAGAGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGT GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT AGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGA GTGTGTGTGTGTGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT GTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTA GAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGAT GTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG TGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGT GGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAG TAGAGGTGTGTGTGTGTGGTAGAGGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72543424	T T	TGAGATAT others(1046): Show TGAGATATTATTATTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTT TTAAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGG ATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACA AGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCCGCGGCCTTCC GCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCT TAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCAC CGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAG CACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGA ATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTT CTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTC CCGCCTTTCTATTCCACAATGCCGCCATTGTCATCCTGGCCCGTTCTCAA TGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCAGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGCGGCTGGCCGGGCAGG GGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0071 a0001c0002t0003g0071	1	99	0.0101	1053	c.915 others(1072): Show c.915+16028_915+16029insGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCTT CCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACC CCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGGATGACA ATGGCGGCATTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAG AAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACT TTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTT GATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGT CCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAA CAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAAT CTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCGGGGTCCTCTGC CTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCT CCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCA AGAATTATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAGAAAAAA AAAAAAAAAAAAAAATAATAATATCTC	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	8/21			chr2	TogoVar
GALR1_chr18_77244848_77282900	77252854	A A	ACACCACC others(1046): Show ACACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CATCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCATCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACC ATCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCATC ACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCA CCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCAC CATCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCAT CACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCA CCAC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0040 a0001c0001t0044g0040	1	275	0.0036	1053	c.666 others(1070): Show c.666+1666_666+1667insCCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCA TCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCAC CACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCATCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(1046): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATATTATATATT TTATATATAATATATATTTTATATATAATATATATTTTATATATATTATA TATTTTATATATAATATATATTTTATATATATTATATATTTTATATATAA TATATATATATTATATATAATATATATTATATATAATATATATATTATAT AAAATATATAATATATATCTTATATATATCATATATTTTATATATATCAT ATATTTTATATATATCATATATTTTATATATAATATATATTATATATACA TTATATAATATATATTATATTATATATAATATATTATATAATATATATTA TATATTATACGTAATATATAATGTATATTATATATAATATACATTATATA ATGTATATTATATATAATATACATTATATAATGTATATTATATATAATAT ACATTGTATACAATGTATATTATATATAATATACATTGTATATAATGTAT ATTACATATAATATACATTATATAATGTATATTACATATAATATACATTG TATATAATGTATATTACATATAATATACATTGTATATAATGTATATTACA TATAATATACATTGTATATAATGTATATTACATATAATATACATTATATA TAATGTGTATATTACATGTAATATACATTATATATAATGTATATTATATG TAATATATACATTATATAATGTGTATATTATATGTAATATATACATTATA TATAATGTGTATATTATATGTAATATATACATTATATATAATGTATATAT TACATGTAATATATACATTATATATAATGTATATTATATGTAATATATAC ATTATATATAATGTATATTATATGTAATATATACATTATATATAATGTAT ATTATATGTAATATATACATTATATAATGTATACATTGTATATAATGTAT ATTA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA19066.hp2 NA19085.hp1 NA18998.hp1 NA19066.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200	3	134	0.0224	1053	c.94- others(1066): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATAATATATATTTTATATATAATATAT ATTTTATATATATTATATATTTTATATATAATATATATTTTATATATATT ATATATTTTATATATAATATATATATATTATATATAATATATATTATATA TAATATATATATTATATAAAATATATAATATATATCTTATATATATCATA TATTTTATATATATCATATATTTTATATATATCATATATTTTATATATAA TATATATTATATATACATTATATAATATATATTATATTATATATAATATA TTATATAATATATATTATATATTATACGTAATATATAATGTATATTATAT ATAATATACATTATATAATGTATATTATATATAATATACATTATATAATG TATATTATATATAATATACATTGTATACAATGTATATTATATATAATATA CATTGTATATAATGTATATTACATATAATATACATTATATAATGTATATT ACATATAATATACATTGTATATAATGTATATTACATATAATATACATTGT ATATAATGTATATTACATATAATATACATTGTATATAATGTATATTACAT ATAATATACATTATATATAATGTGTATATTACATGTAATATACATTATAT ATAATGTATATTATATGTAATATATACATTATATAATGTGTATATTATAT GTAATATATACATTATATATAATGTGTATATTATATGTAATATATACATT ATATATAATGTATATATTACATGTAATATATACATTATATATAATGTATA TTATATGTAATATATACATTATATATAATGTATATTATATGTAATATATA CATTATATATAATGTATATTATATGTAATATATACATTATATAATGTATA CATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(1046): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATATTATATATT TTATATATAATATATATTTTATATATAATATATATTTTATATATATTATA TATTTTATATATAATATATATTTTATATATATTATATATTTTATATATAA TATATATATATTATATATAATATATTTTATATATAATATATATATTATAT AAAATATATAATATATATCTTATATATATCATATATTTTATATATATCAT ATATTTTATATATATCATATATTTTATATATAATATATATTATATATACA TTATATAATATATATTATATTATATATAATATATTATATAATATATATTA TATATTATACGTAATATATAATGTATATTATATATAATATACATTATATA ATGTATATTATATATAATATACATTATATAATGTATATTATATATAATAT ACATTGTATACAATGTATATTATATATAATATACATTGTATATAATGTAT ATTACATATAATATACATTATATAATGTATATTACATATAATATACATTG TATATAATGTATATTACATATAATATACATTGTATATAATGTATATTACA TATAATATACATTGTATATAATGTATATTACATATAATATACATTATATA TAATGTGTATATTACATGTAATATACATTATATATAATGTATATTATATG TAATATATACATTATATAATGTGTATATTATATGTAATATATACATTATA TATAATGTATATATTATATGTAATATATACATTATATATAATGTATATAT TACATGTAATATATACATTATATATAATGTATATTATATGTAATATATAC ATTATATATAATGTATATTATATGTAATATATACATTATATATAATGTAT ATTATATGTAATATATACATTATATAATGTATACATTGTATATAATGTAT ATTA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	132	0.0076	1053	c.94- others(1066): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATAATATATATTTTATATATAATATAT ATTTTATATATATTATATATTTTATATATAATATATATTTTATATATATT ATATATTTTATATATAATATATATATATTATATATAATATATTTTATATA TAATATATATATTATATAAAATATATAATATATATCTTATATATATCATA TATTTTATATATATCATATATTTTATATATATCATATATTTTATATATAA TATATATTATATATACATTATATAATATATATTATATTATATATAATATA TTATATAATATATATTATATATTATACGTAATATATAATGTATATTATAT ATAATATACATTATATAATGTATATTATATATAATATACATTATATAATG TATATTATATATAATATACATTGTATACAATGTATATTATATATAATATA CATTGTATATAATGTATATTACATATAATATACATTATATAATGTATATT ACATATAATATACATTGTATATAATGTATATTACATATAATATACATTGT ATATAATGTATATTACATATAATATACATTGTATATAATGTATATTACAT ATAATATACATTATATATAATGTGTATATTACATGTAATATACATTATAT ATAATGTATATTATATGTAATATATACATTATATAATGTGTATATTATAT GTAATATATACATTATATATAATGTATATATTATATGTAATATATACATT ATATATAATGTATATATTACATGTAATATATACATTATATATAATGTATA TTATATGTAATATATACATTATATATAATGTATATTATATGTAATATATA CATTATATATAATGTATATTATATGTAATATATACATTATATAATGTATA CATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
IL18R1_chr2_102350796_102403776	102352800	T T	TAATATAA others(1046): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATGAATAATATAATATATAATATATAA TATATAATATAATATATAATATAATATATAATATAATATATAATATAATA TATAATATATAATATATAATATAATATATAATATATAATATAATATATAA TGTAATATATAATATATAATATAATATATAATATATAATATATAATATAT AATATAATATATAATATACAATACATAATATATAATGTATAATATAATAT ATAATATAATATAAAATATATAATATATAATATATAATATTATATATTTT ATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACT GGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCAAACACTCTTTT CATATTACAAATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAG CTCAACAATGTGCCACATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCA GTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAGATG CTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGTGTGACAACATA CTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAATGCATGTCCTCTGAC CTTTCCTCAACCAAAATAAATGAAACCCAACAACACCAAACTTCACTCTT CACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCTATAGTCTCATGCA ACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTCACCACCACTCCAT CCAGTGGCCCTGGGTGGCTGATCATCATGGAATCCATTGCACCCTTGTCC TCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATATATATTATATATGA TATATATTTTATATATTATTTTATATGTGATATATATTTTATATATCTAT ACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02965.hp1 HG02970.hp1 others(3): Show HG02572.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0019 a0001c0003t0007 a0001c0001t0019 a0001c0003t0007	a0001c0001t0019g0075 a0001c0003t0007g0190 a0001c0003t0007g0191 others(3): Show a0001c0001t0019g0075 a0001c0003t0007g0190 a0001c0003t0007g0191 a0001c0003t0007g0192 a0001c0003t0007g0193 a0001c0003t0007g0194	6	254	0.0236	1053	c.-36 others(1064): Show c.-3629_-3628insAATATAATATGTATTTTATATATTATATTATATA AAATATAGTATATTATATATAATATAATAAATAATATAATATATAATATA TAATATAATAAATAATATAATATATAATATAATATATAATGAATAATATA ATATATAATATATAATATATAATATAATATATAATATAATATATAATATA ATATATAATATAATATATAATATATAATATATAATATAATATATAATATA TAATATAATATATAATGTAATATATAATATATAATATAATATATAATATA TAATATATAATATATAATATAATATATAATATACAATACATAATATATAA TGTATAATATAATATATAATATAATATAAAATATATAATATATAATATAT AATATTATATATTTTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTC CCCCATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGCT CTCAAACACTCTTTTCATATTACAAATGTACTCAAGAACCTGCAGGGACT CCTGTTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCACAAGCTCTTC ACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCTC AGCCAAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCA ATGTGTGACAACATACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAA TGCATGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAACCCAACAACA CCAAACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTAAGGTACTGT CTATAGTCTCATGCAACTTATCTTGCATTTGCCCCATCAAAATCCTCTCT TCACCACCACTCCATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATCC ATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCAT ATATATTATATATGATATATATTTTATATATTATTTTATATGTGATATAT ATTTTATATATCTATACAA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		2995		chr2	TogoVar
IL18R1_chr2_102350796_102403776	102352800	T T	TAATATAA others(1046): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATGAATAATATAATATATAATATATAA TATATAATATAATATATAATATAATATATAATATAATATATAATATATAA TATAATATATAATATATAATATAATATATAATATATAATATAATATATAA TGTAATATATAATATATAATATAATATATAATATATAATATATAATATAT AATATAATATATAATATACAATACATAATATATAATGTATAATATAATAT ATAATATAATATAAAATATATAATATATAATATATAATATTATATATTTT ATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACT GGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCAAACACTCTTTT CATATTACAAATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAG CTCAACAATGTGCCACATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCA GTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAGATG CTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGTGTGACAACATA CTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAATGCATGTCCTCTGAC CTTTCCTCAACCAAAATAAATGAAACCCAACAACACCAAACTTCACTCTT CACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCTATAGTCTCATGCA ACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTCACCACCACTCCAT CCAGTGGCCCTGGGTGGCTGATCATCATGGAATCCATTGCACCCTTGTCC TCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATATATATTATATATGA TATATATTTTATATATTATTTTATATGTGATATATATTTTATATATCTAT ACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0006c0007 a0001c0003 a0006c0007	a0001c0003t0007 a0006c0007t0019 a0001c0003t0007 a0006c0007t0019	a0001c0003t0007g0043 a0001c0003t0007g0189 a0006c0007t0019g0083 a0001c0003t0007g0043 a0001c0003t0007g0189 a0006c0007t0019g0083	3	251	0.0120	1053	c.-36 others(1064): Show c.-3629_-3628insAATATAATATGTATTTTATATATTATATTATATA AAATATAGTATATTATATATAATATAATAAATAATATAATATATAATATA TAATATAATAAATAATATAATATATAATATAATATATAATGAATAATATA ATATATAATATATAATATATAATATAATATATAATATAATATATAATATA ATATATAATATATAATATAATATATAATATATAATATAATATATAATATA TAATATAATATATAATGTAATATATAATATATAATATAATATATAATATA TAATATATAATATATAATATAATATATAATATACAATACATAATATATAA TGTATAATATAATATATAATATAATATAAAATATATAATATATAATATAT AATATTATATATTTTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTC CCCCATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGCT CTCAAACACTCTTTTCATATTACAAATGTACTCAAGAACCTGCAGGGACT CCTGTTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCACAAGCTCTTC ACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCTC AGCCAAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCA ATGTGTGACAACATACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAA TGCATGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAACCCAACAACA CCAAACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTAAGGTACTGT CTATAGTCTCATGCAACTTATCTTGCATTTGCCCCATCAAAATCCTCTCT TCACCACCACTCCATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATCC ATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCAT ATATATTATATATGATATATATTTTATATATTATTTTATATGTGATATAT ATTTTATATATCTATACAA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		2995		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352800	T T	TAATATAA others(1046): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATGAATAATATAATATATAATATATAA TATATAATATAATATATAATATAATATATAATATAATATATAATATAATA TATAATATATAATATATAATATAATATATAATATATAATATAATATATAA TGTAATATATAATATATAATATAATATATAATATATAATATATAATATAT AATATAATATATAATATACAATACATAATATATAATGTATAATATAATAT ATAATATAATATAAAATATATAATATATAATATATAATATTATATATTTT ATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACT GGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCAAACACTCTTTT CATATTACAAATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAG CTCAACAATGTGCCACATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCA GTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAGATG CTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGTGTGACAACATA CTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAATGCATGTCCTCTGAC CTTTCCTCAACCAAAATAAATGAAACCCAACAACACCAAACTTCACTCTT CACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCTATAGTCTCATGCA ACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTCACCACCACTCCAT CCAGTGGCCCTGGGTGGCTGATCATCATGGAATCCATTGCACCCTTGTCC TCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATATATATTATATATGA TATATATTTTATATATTATTTTATATGTGATATATATTTTATATATCTAT ACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02965.hp2 HG03139.hp1 others(1): Show HG02572.hp1 HG02965.hp2 HG03139.hp1 HG03471.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0049 a0002c0005t0003g0050 a0002c0005t0003g0051 others(1): Show a0002c0005t0003g0049 a0002c0005t0003g0050 a0002c0005t0003g0051 a0002c0005t0003g0052	4	238	0.0168	1053	c.87 others(1062): Show c.879_*880insAATATAATATGTATTTTATATATTATATTATATAAA ATATAGTATATTATATATAATATAATAAATAATATAATATATAATATATA ATATAATAAATAATATAATATATAATATAATATATAATGAATAATATAAT ATATAATATATAATATATAATATAATATATAATATAATATATAATATAAT ATATAATATAATATATAATATATAATATATAATATAATATATAATATATA ATATAATATATAATGTAATATATAATATATAATATAATATATAATATATA ATATATAATATATAATATAATATATAATATACAATACATAATATATAATG TATAATATAATATATAATATAATATAAAATATATAATATATAATATATAA TATTATATATTTTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCC CCATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCT CAAACACTCTTTTCATATTACAAATGTACTCAAGAACCTGCAGGGACTCC TGTTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCACAAGCTCTTCAC CTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAG CCAAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAAT GTGTGACAACATACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAATG CATGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAACCCAACAACACC AAACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCT ATAGTCTCATGCAACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTC ACCACCACTCCATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATCCAT TGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATAT ATATTATATATGATATATATTTTATATATTATTTTATATGTGATATATAT TTTATATATCTATACAA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		764		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352800	T T	TAATATAA others(1046): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATGAATAATATAATATATAATATATAA TATATAATATAATATATAATATAATATATAATATAATATATAATATATAA TATAATATATAATATATAATATAATATATAATATATAATATAATATATAA TGTAATATATAATATATAATATAATATATAATATATAATATATAATATAT AATATAATATATAATATACAATACATAATATATAATGTATAATATAATAT ATAATATAATATAAAATATATAATATATAATATATAATATTATATATTTT ATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACT GGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCAAACACTCTTTT CATATTACAAATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAG CTCAACAATGTGCCACATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCA GTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAGATG CTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGTGTGACAACATA CTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAATGCATGTCCTCTGAC CTTTCCTCAACCAAAATAAATGAAACCCAACAACACCAAACTTCACTCTT CACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCTATAGTCTCATGCA ACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTCACCACCACTCCAT CCAGTGGCCCTGGGTGGCTGATCATCATGGAATCCATTGCACCCTTGTCC TCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATATATATTATATATGA TATATATTTTATATATTATTTTATATGTGATATATATTTTATATATCTAT ACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0172 a0002c0005t0003g0172	1	235	0.0043	1053	c.87 others(1062): Show c.879_*880insAATATAATATGTATTTTATATATTATATTATATAAA ATATAGTATATTATATATAATATAATAAATAATATAATATATAATATATA ATATAATAAATAATATAATATATAATATAATATATAATGAATAATATAAT ATATAATATATAATATATAATATAATATATAATATAATATATAATATAAT ATATAATATATAATATAATATATAATATATAATATAATATATAATATATA ATATAATATATAATGTAATATATAATATATAATATAATATATAATATATA ATATATAATATATAATATAATATATAATATACAATACATAATATATAATG TATAATATAATATATAATATAATATAAAATATATAATATATAATATATAA TATTATATATTTTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCC CCATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCT CAAACACTCTTTTCATATTACAAATGTACTCAAGAACCTGCAGGGACTCC TGTTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCACAAGCTCTTCAC CTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAG CCAAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAAT GTGTGACAACATACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAATG CATGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAACCCAACAACACC AAACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCT ATAGTCTCATGCAACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTC ACCACCACTCCATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATCCAT TGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATAT ATATTATATATGATATATATTTTATATATTATTTTATATGTGATATATAT TTTATATATCTATACAA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		764		chr2	TogoVar
IQSEC3_chr12_61767_183455	163272	C C	CCCTCCCT others(1046): Show CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAC CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAA CCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTC CTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGG ACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCC CTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCC CCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTC CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCT CCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCC CTCT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0265 a0002c0001t0002g0265	1	213	0.0047	1053	c.258 others(1070): Show c.2584-202_2584-201insGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCC TCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGA CCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCC CTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGA ACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCT CCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCG GACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTC CCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGC CCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTC CACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTC CCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACA GAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCT CCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCC TCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCC TCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCC CCTCTCCTCCCTCCACAGAACCGGA	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163272	C C	CCCTCCCT others(1046): Show CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAA CCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTC CTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGG ACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCC CTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCC CCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTC CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCT CCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCC CTCT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0032 a0001c0004t0032	a0001c0004t0032g0030 a0001c0004t0032g0030	1	213	0.0047	1053	c.258 others(1070): Show c.2584-202_2584-201insGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCC TCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCC CTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGA ACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCT CCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCG GACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTC CCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGC CCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTC CACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTC CCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACA GAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCT CCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCC TCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCC TCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCC CCTCTCCTCCCTCCACAGAACCGGA	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KIF25_chr6_167992671_168050091	167997507	T T	TGGGGCGA others(1046): Show TGGGGCGACGGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAG AGATGGGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCA GAGATGGGGGCGGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCA GAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGGAATCTGCAGAGATGGGGGGCGGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGGTGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGATGGGGGGGCGGGGGAATCTGCAGAG ATGGGGCGACGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGG TGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGAT GGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAGTCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGATGGGGGGGCGGGGGAGTCTGCAGAG GTGGGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAGTCTGCAGA GATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0223 a0003c0004t0001g0223	1	306	0.0033	1053	c.-19 others(1064): Show c.-1962_-1961insGGGGCGACGGGGGGAATCTGCAGAGATGGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGGAATCTGCAGAGATGGGGGGT CGGGGGAATCTGCAGAGATGGGGGGGCGGGGGAATCTGCAGAGATGGGGG TCGGGGGAATCTGCAGAGATGGGGGCGGGGGGAATCTGCAGAGATGGGGG GCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGGAATCTGCAGAGATGGG GGGCGGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGGTGGGGGGTCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGGCG GGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGTC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGG GGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGG GGGAGTCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGGCG GGGGAGTCTGCAGAGGTGGGGGGGCGGGGGAATCTGCAGAGATGGGGGCC GGGGGAGTCTGCAGAGATG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		163		chr6	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(1046): Show ATGTATATATATGTGTGTATATATACATATATGTATATGTATGTGTGTAT ATATGCATATATGTATATGTATATGTGTATATATGCATATATGTATATGC ATATGTGTGTATATATGCATATATATGTATATGCATATGTGTGTATATAT ACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATAT GCATATGTGTGTATATATACATATATATGGATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTATATATACATAGGATATGTATATGCATATGTGTGTA TATATACATATATGTATATGCATATGTGTGTATATATACATATATATGTA TATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTA TATATACACATATACGTATATGCATATGTGTGTATATATACACATATACG TATATGCATATGTGTGTATATATACACATATACGTATATGCATATGTGTG TAAATATACACATATACGTATATGCATATGTGTGTATATATACACATATA CGTATATGCATATGTGTGTATATATACACATATACGTATATGCATATGTG TGTATATATACACATATACGTATATGCATATGTGTGTATATATACACATA TACGTATATGCATATGTGTGTATATATACACATATACGTATATGCATATG TGTGTATATATACACATATACGTATATGCATATGTGTGTATATATACACA TATACGTATATGCATATGTGTGTATATATACACATATACGTATATGCATA TGTGTGTATATATACACATATACGTATATGCATATGTGTGTATATATACA CATATACATATATATGCATATATGTGTATATATACATATACATATATATG CATATATGTGTATACATATACATATATATGCATATATGTGTATATATACA CATATATATGTGTGTGTATATATATGTGTGTGTATATATACACATATATA TGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	135	0.0074	1053	c.31 others(1064): Show c.3116_*3117insTGTATATATATGTGTGTATATATACATATATGTA TATGTATGTGTGTATATATGCATATATGTATATGTATATGTGTATATATG CATATATGTATATGCATATGTGTGTATATATGCATATATATGTATATGCA TATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATA CATATATATGTATATGCATATGTGTGTATATATACATATATATGGATATG CATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATA TACATATATATGTATATGCATATGTGTGTATATATACATAGGATATGTAT ATGCATATGTGTGTATATATACATATATGTATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTATATATACACATATACGTATATGCATATGTGTGTAT ATATACACATATACGTATATGCATATGTGTGTATATATACACATATACGT ATATGCATATGTGTGTAAATATACACATATACGTATATGCATATGTGTGT ATATATACACATATACGTATATGCATATGTGTGTATATATACACATATAC GTATATGCATATGTGTGTATATATACACATATACGTATATGCATATGTGT GTATATATACACATATACGTATATGCATATGTGTGTATATATACACATAT ACGTATATGCATATGTGTGTATATATACACATATACGTATATGCATATGT GTGTATATATACACATATACGTATATGCATATGTGTGTATATATACACAT ATACGTATATGCATATGTGTGTATATATACACATATACGTATATGCATAT GTGTGTATATATACACATATACATATATATGCATATATGTGTATATATAC ATATACATATATATGCATATATGTGTATACATATACATATATATGCATAT ATGTGTATATATACACATATATATGTGTGTGTATATATATGTGTGTGTAT ATATACACATATATATGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
PGBD5_chr1_230309490_230431332	230332040	A A	ACACACCA others(1046): Show ACACACCACACACACACACACCATACCCATAACATAGACATGCACGTGTA TACACACCACACAAACATACAGACTACACACACCACACTATGTAAACATA CATATACACACACCACACAGACCACACACACACCATGCCCATAACATAGA CAAACACGTGTATACACACCACACAACATACAGACCACACACACCATACA AACTTACCACACAACAATACACACACACCACACCCACCATACCACACATA CCATACCACATACACACTCCACACCACAGTACACCACACCAATATAGACA CACACCACACCCACTATACCACACATACCATACCACATACACACTCCACA CCACAGTACACCGCGCCAATATATACACACACCACACCCACCATACCACA AATACATATCACATACACACTCCACACCAAATATATACACACGCTGACAT CACAGAAACATACGTATCACATACTCCACACCGCATACAAAACACCAACA TAGACACACACACCACACCCACCATACCACACATACCATACCACATACAC ACTCCACACCACAGTACACACCAATATATACACACACACTGCAGCCACCA TACCACAAATACATATCACATCCACACTCCACACCACACACACAAATATA TACACACATGTCACAGAAACATACATATCACATACTCCACACCACATACA ACACACCAACATACACACACACCACACCCACCATACCACACATACCATAC CACATACACACTCCACACCACAGTACACCACACCAATATAGACACACACA CACCACACCCACCATACTACAAATACATATCACATCCACACTCCACACCA CACAAATATATACACACGTCACAGAAACATACATATCACATTCTCCACAC CGCATACAACACACCAACATATACACACACACCGCACCCACCATACCACA CATACCATACCACATACACACTCCACACCACAGTACACCACACCAATATA TACACACACACCACACACACCATGCCACCAAAAATACATATCACATACAC ACTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0016 a0001c0001t0012g0016	1	136	0.0074	1053	c.127 others(1070): Show c.1273+803_1273+804insGAGTGTGTATGTGATATGTATTTTTGGT GGCATGGTGTGTGTGGTGTGTGTGTATATATTGGTGTGGTGTACTGTGGT GTGGAGTGTGTATGTGGTATGGTATGTGTGGTATGGTGGGTGCGGTGTGT GTGTATATGTTGGTGTGTTGTATGCGGTGTGGAGAATGTGATATGTATGT TTCTGTGACGTGTGTATATATTTGTGTGGTGTGGAGTGTGGATGTGATAT GTATTTGTAGTATGGTGGGTGTGGTGTGTGTGTGTCTATATTGGTGTGGT GTACTGTGGTGTGGAGTGTGTATGTGGTATGGTATGTGTGGTATGGTGGG TGTGGTGTGTGTGTATGTTGGTGTGTTGTATGTGGTGTGGAGTATGTGAT ATGTATGTTTCTGTGACATGTGTGTATATATTTGTGTGTGTGGTGTGGAG TGTGGATGTGATATGTATTTGTGGTATGGTGGCTGCAGTGTGTGTGTATA TATTGGTGTGTACTGTGGTGTGGAGTGTGTATGTGGTATGGTATGTGTGG TATGGTGGGTGTGGTGTGTGTGTCTATGTTGGTGTTTTGTATGCGGTGTG GAGTATGTGATACGTATGTTTCTGTGATGTCAGCGTGTGTATATATTTGG TGTGGAGTGTGTATGTGATATGTATTTGTGGTATGGTGGGTGTGGTGTGT GTATATATTGGCGCGGTGTACTGTGGTGTGGAGTGTGTATGTGGTATGGT ATGTGTGGTATAGTGGGTGTGGTGTGTGTCTATATTGGTGTGGTGTACTG TGGTGTGGAGTGTGTATGTGGTATGGTATGTGTGGTATGGTGGGTGTGGT GTGTGTGTATTGTTGTGTGGTAAGTTTGTATGGTGTGTGTGGTCTGTATG TTGTGTGGTGTGTATACACGTGTTTGTCTATGTTATGGGCATGGTGTGTG TGTGGTCTGTGTGGTGTGTGTATATGTATGTTTACATAGTGTGGTGTGTG TAGTCTGTATGTTTGTGTGGTGTGTATACACGTGCATGTCTATGTTATGG GTATGGTGTGTGTGTGTGTGGTGTG	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	5/6			chr1	TogoVar
PGBD5_chr1_230309490_230431332	230332040	A A	ACACACCA others(1046): Show ACACACCACACACACACACACCATACCCATAACATAGACATGCACGTGTA TACACACCACACAAACATACAGACTACACACACCACACTATGTAAACATA CATATACACACACCACACAGACCACACACACACCATGCCCATAACATAGA CAAACACGTGTATACACACCACACAACATACAGACCACACACACCATACA AACTTACCACACAACAATACACACACACCACACCCACCATACCACACATA CCATACCACATACACACTCCACACCACAGTACACCACACCAATATAGACA CACACCACACCCACTATACCACACATACCATACCACATACACACTCCACA CCACAGTACACCGCGCCAATATATACACACACCACACCCACCATACCACA AATACATATCACATACACACTCCACACCAAATATATACACACGCTGACAT CACAGAAACATACGTATCACATACTCCACACCGCATACAACACACCAACA TAGACACACACACCACACCCACCATACCACACATACCATACCACATACAC ACTCCACACCACAGTACACACCAATATATACACACACACTGCAGCCACCA TACCACAAATACATATCACATCCACACTCCACACCACACACACAAATATA TACACACATGTCACAGAAACATACATATCACATACTCCACACCACATACA ACACACCAACATACACACACACCACACCCACCATACCACACATACCATAC CACATACACACTCCACACCACAGTACACCACACCAATATAGACACACACA CACCACACCCACCATACTACAAATACATATCACATCCACACTCCACACCA CACAAATATATACACACGTCACAGAAACATACATATCACATTCTCCACAC CGCATACAACACACCAACATATACACACACACCGCACCCACCATACCACA CATACCATACCACATACACACTCCACACCACAGTACACCACACCAATATA TACACACACACCACACACACCATGCCACCAAAAATACATATCACATACAC ACTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01109.hp2 others(3): Show HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01243.hp1 HG02615.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0012 a0001c0008t0044 a0001c0001t0012 a0001c0008t0044	a0001c0001t0012g0001 a0001c0001t0012g0039 a0001c0001t0012g0040 others(2): Show a0001c0001t0012g0001 a0001c0001t0012g0039 a0001c0001t0012g0040 a0001c0008t0044g0015 a0001c0008t0044g0116	6	141	0.0426	1053	c.127 others(1070): Show c.1273+803_1273+804insGAGTGTGTATGTGATATGTATTTTTGGT GGCATGGTGTGTGTGGTGTGTGTGTATATATTGGTGTGGTGTACTGTGGT GTGGAGTGTGTATGTGGTATGGTATGTGTGGTATGGTGGGTGCGGTGTGT GTGTATATGTTGGTGTGTTGTATGCGGTGTGGAGAATGTGATATGTATGT TTCTGTGACGTGTGTATATATTTGTGTGGTGTGGAGTGTGGATGTGATAT GTATTTGTAGTATGGTGGGTGTGGTGTGTGTGTGTCTATATTGGTGTGGT GTACTGTGGTGTGGAGTGTGTATGTGGTATGGTATGTGTGGTATGGTGGG TGTGGTGTGTGTGTATGTTGGTGTGTTGTATGTGGTGTGGAGTATGTGAT ATGTATGTTTCTGTGACATGTGTGTATATATTTGTGTGTGTGGTGTGGAG TGTGGATGTGATATGTATTTGTGGTATGGTGGCTGCAGTGTGTGTGTATA TATTGGTGTGTACTGTGGTGTGGAGTGTGTATGTGGTATGGTATGTGTGG TATGGTGGGTGTGGTGTGTGTGTCTATGTTGGTGTGTTGTATGCGGTGTG GAGTATGTGATACGTATGTTTCTGTGATGTCAGCGTGTGTATATATTTGG TGTGGAGTGTGTATGTGATATGTATTTGTGGTATGGTGGGTGTGGTGTGT GTATATATTGGCGCGGTGTACTGTGGTGTGGAGTGTGTATGTGGTATGGT ATGTGTGGTATAGTGGGTGTGGTGTGTGTCTATATTGGTGTGGTGTACTG TGGTGTGGAGTGTGTATGTGGTATGGTATGTGTGGTATGGTGGGTGTGGT GTGTGTGTATTGTTGTGTGGTAAGTTTGTATGGTGTGTGTGGTCTGTATG TTGTGTGGTGTGTATACACGTGTTTGTCTATGTTATGGGCATGGTGTGTG TGTGGTCTGTGTGGTGTGTGTATATGTATGTTTACATAGTGTGGTGTGTG TAGTCTGTATGTTTGTGTGGTGTGTATACACGTGCATGTCTATGTTATGG GTATGGTGTGTGTGTGTGTGGTGTG	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	5/6			chr1	TogoVar
RAB11FIP3_chr16_420649_528011	458604	G G	GGGTTCAC others(1046): Show GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGA TGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCC TTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTT CACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCC ACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGG GGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCT CGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCG ATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGG GCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGC CTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGT TCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCC CACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTG GGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCC TCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACC GATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAG GGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGG CCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGC CCACAGGGCCTGGAGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCT GGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTC CTCA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0139 a0001c0001t0048g0139	1	207	0.0048	1053	c.715 others(1070): Show c.715-2787_715-2786insCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGC TCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCT GGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGAT GCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGC CTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCT TCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTC ACCGATGCCCACAGGGCCTGGAGGGCCTTCCTCGGGTTCACCGATGCTCA CAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGG GGGCCTTCCTCAGGTTCACCGATGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492455	T T	TCCCCGGG others(1046): Show TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0147 a0001c0002t0031g0147	1	269	0.0037	1053	c.126 others(1072): Show c.1265+3455_1265+3456insCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RAB40B_chr17_82649973_82703698	82671976	C C	CACACCCT others(1046): Show CACACCCTGTACTCACTGACACACCCCACCCCGTCACTCTAAAACACACA CACTCACACACCCTGTACCCACTGACACACCCCACCCCTGTAACTCTAAC ACACACTCACATGCTCCCTGTACCCACTGACACAGCTCACCCTGTAACTC TAACACACACACTCACATGCTCCCTGTACCCACTGACACAGCTCACCCCT GTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTGACACACCC CACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTGA CACACCCCAACCCTGTAACCCTAACACACACAGTCACACATCCTGTACTC ACTGACACACTTCACCCTGTAACTCTAACACACTCACACGCTCTCTGTAC TGACACACCTCACCCCTGTAACTCTAACACACACACTCTCACACACATCC TGTACTCACTGACACACTTCACCCTGTAACTCTAACACACACACGCTCCC TGTACTCACTGACACACCCCACCCCTGTAACTCTAACACACACTCACATG CTCCCTGTACTCACTGACACACCCCACCCCTGTAACTCTAACACACACTC ACATGCTCCCTGTACTCACTGACACACCTCACCCCGTAACTCTAACACAC ACACTCACACCCTGTACTCACTGACACACCCCACCCCGTCACTCTAAAAC ACACACACTCACACACCCTGTACCCACTGACACACCTCACCCCTGTAACT CAAACCACACACACACCCTGTACTCACTGACACACCCCACCCCTGTAACT CTAACACACACACTCACACGCTCCCTGTACTCACTGACACAGCTCACCCC TGTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTGACACACC CCACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACCCACTG ACACAGCTCACCCCTGTAACTCTAACACACACTCACACGCTCCCTGTACT CACTGACACACCCCACCCGTGTAACTCTAACACACACACTCACACGCTCC CTGT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	131	0.0076	1053	c.143 others(1070): Show c.143-7421_143-7420insACAGGGAGCGTGTGAGTGTGTGTGTTAG AGTTACACGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGAGTGTGT GTTAGAGTTACAGGGGTGAGCTGTGTCAGTGGGTACAGGGAGCGTGTGAG TGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGC GTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGCTGTGTCAGTGAGTAC AGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAG TGAGTACAGGGTGTGTGTGTGGTTTGAGTTACAGGGGTGAGGTGTGTCAG TGGGTACAGGGTGTGTGAGTGTGTGTGTTTTAGAGTGACGGGGTGGGGTG TGTCAGTGAGTACAGGGTGTGAGTGTGTGTGTTAGAGTTACGGGGTGAGG TGTGTCAGTGAGTACAGGGAGCATGTGAGTGTGTGTTAGAGTTACAGGGG TGGGGTGTGTCAGTGAGTACAGGGAGCATGTGAGTGTGTGTTAGAGTTAC AGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGTGTGTTAGAGTTA CAGGGTGAAGTGTGTCAGTGAGTACAGGATGTGTGTGAGAGTGTGTGTGT TAGAGTTACAGGGGTGAGGTGTGTCAGTACAGAGAGCGTGTGAGTGTGTT AGAGTTACAGGGTGAAGTGTGTCAGTGAGTACAGGATGTGTGACTGTGTG TGTTAGGGTTACAGGGTTGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGA GTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAG CGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGCTGTGTCAGTGGGTA CAGGGAGCATGTGAGTGTGTGTGTTAGAGTTACAGGGTGAGCTGTGTCAG TGGGTACAGGGAGCATGTGAGTGTGTGTTAGAGTTACAGGGGTGGGGTGT GTCAGTGGGTACAGGGTGTGTGAGTGTGTGTGTTTTAGAGTGACGGGGTG GGGTGTGTCAGTGAGTACAGGGTGT	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(1046): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0130 a0001c0001t0015g0130	1	174	0.0057	1053	c.66+ others(1068): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RPH3AL_chr17_207389_357807	355823	A A	AACAGTCG others(1046): Show AACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACA GTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCG CACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACA CTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGC CTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCG ACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCA CACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCAC AGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCA CAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGC GCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACAC ACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01361.hp2 HG01358.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0001t0013g0107 a0001c0001t0013g0108	2	114	0.0175	1053	c.-33 others(1064): Show c.-3325_-3324insGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCG CCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGC GACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTG TGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCG CGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGT GGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTG TGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGT GGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTC GCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGG CGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGT GTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGC GCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTG TGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACT GTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTG TGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGT CGCCTGTGGAGGCGACTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3017		chr17	TogoVar
S1PR4_chr19_3173769_3185332	3178051	A A	ATCGGGCT others(1046): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCC CCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGCCCTCAGTTTC CCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 NA20129.hp1 HG02895.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	259	0.0077	1053	c.-74 others(1062): Show c.-742_-741insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCT CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTG GGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTT CCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCA ACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGC TCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCT CAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCT TCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCA TCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCT GGCCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTT TCCCCTTCTGCAACGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		717		chr19	TogoVar

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