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
CAPN11_chr6_44153820_44189401	44182328	A A	ACCACACC others(286): Show ACCACACCACACACACACACACATACAGACACAACCACACCACACACACA CACACATACACACTCACATACAGACACAACCACACCACACACACACATAC ACACTCACATACAGACACAACCACACCACACACACACACACACATACACA CTCACATACAGACACAACCACACCACACACACACACACACAGACACAACC ACACCACACACACACACACATACACACTCACATACAGATACAACCACACC ACACACACACACACACACACATACACACTCACATACAGATACAG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	458	0.0022	293	c.193 others(310): Show c.1939-595_1939-594insCACATACAGACACAACCACACCACACAC ACACACACATACACACTCACATACAGACACAACCACACCACACACACACA TACACACTCACATACAGACACAACCACACCACACACACACACACACATAC ACACTCACATACAGACACAACCACACCACACACACACACACACAGACACA ACCACACCACACACACACACACATACACACTCACATACAGATACAACCAC ACCACACACACACACACACACACATACACACTCACATACAGATACAGCCA CACCACACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CBLC_chr19_44772890_44805652	44778353	C C	CCAGACCC others(286): Show CCAGACCCAGGAACTTAGGCCCCCACCCCCTCCTCCCTCAGACCCAGGAA CTCAGGCCCCCACCACCTCCTCCCTCAGACCCAGGAACTCAGGCCCCCAT CCCCTCCTCCCTCAGACTCAGGGCTCCAGCCCCCAGCCCCTCCTCCCTCA GACCCAGGGGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAACTCA GGCCCCCACCCCCTCCTCCCTCAGACACAGGAACTCAGGCCCCCACCACC TCCTCCCTCAGACTCAGGGCTCCAGCCCCCAGCCCCTCCTCCCT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	342	0.0029	293	c.353 others(308): Show c.353+148_353+149insCCAGGAACTCAGGCCCCCATCCCCTCCTCC CTCAGACTCAGGGCTCCAGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGG TCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAACTCAGGCCCCCACC CCCTCCTCCCTCAGACACAGGAACTCAGGCCCCCACCACCTCCTCCCTCA GACTCAGGGCTCCAGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAACTTA GGCCCCCACCCCCTCCTCCCTCAGACCCAGGAACTCAGGCCCCCACCACC TCCTCCCTCAGAC	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC141_chr2_178824757_179055137	179015551	C C	CATATATC others(286): Show CATATATCTCATATATATGATATATATCTCATATATCTCATATATATGAT ATATATCTCATATATCTCATATATGATATATATATCTCATATATCTCATA TATATGATATATATATCTCATATATCTCATATATATGATATATATATCTC ATATATCTCATATATATGATATATATATCTCATATATCTCATATATATGA TATATATATCTCATATATCTCATATATATTATATATCTCATATATCTCAT ATATATGATATATATATCTCATATATATGATATATATATCTCAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0078 a0001c0032t0078	a0001c0032t0078g0087 a0001c0032t0078g0087	1	111	0.0090	293	c.225 others(312): Show c.225+31732_225+31733insATGAGATATATATATCATATATATGA GATATATATATCATATATATGAGATATATGAGATATATAATATATATGAG ATATATGAGATATATATATCATATATATGAGATATATGAGATATATATAT CATATATATGAGATATATGAGATATATATATCATATATATGAGATATATG AGATATATATATCATATATATGAGATATATGAGATATATATATCATATAT GAGATATATGAGATATATATCATATATATGAGATATATGAGATATATATC ATATATATGAGATATAT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(286): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTCCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCT CCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	18	0.0556	293	c.-22 others(304): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGGAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC6_chr10_59783747_59911556	59882522	G G	GGGGAGAA others(286): Show GGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGG AGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAA GGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAA GCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGG GAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	230	0.0043	293	c.303 others(312): Show c.303+23599_303+23600insGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCC TTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCT TCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTC CCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCC CGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGC TTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCKAR_chr4_26476396_26495484	26484866	A A	ACCCAATC others(286): Show ACCCAATCTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0111	1	345	0.0029	293	c.626 others(308): Show c.626+770_626+771insCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AATAGAGATTGGG	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding	3/4			chr4	TogoVar
CCSER1_chr4_90122394_91610295	90579817	C C	CAAGACTT others(286): Show CAAGACTTCTTGTGGACAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGCCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19240.hp1 HG03209.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0007 a0001c0001t0013	a0001c0001t0007g0036 a0001c0001t0013g0035 a0001c0001t0007g0036 a0001c0001t0013g0035	2	37	0.0541	293	c.172 others(314): Show c.1725-48193_1725-48192insCAGCACTTTGGGAGGCCGAGGCGG GCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAA CCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAGACTTCTTGTGGA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CD226_chr18_69848274_69952873	69894547	A A	AGAGAAAG others(286): Show AGAGAAAGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGAGG GGAGGGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGAAG GGAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGCAGATGG GGGCAGGGGAGGGGAGTGGATGGGGGCAGGGGAGGGGAGGGGAGGGGGAG GGAGACCGGAAGGGGAGGGAGACGGGGAGGGGAGGGAGACGGGGAGGGGG AGGGCAGGGGAGGGGAAGGGCAGGGGAGGGGAAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA20129.hp2 HG02074.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0100 a0001c0001t0033 a0001c0001t0100	a0001c0001t0033g0134 a0001c0001t0100g0168 a0001c0001t0033g0134 a0001c0001t0100g0168	2	230	0.0087	293	c.727 others(310): Show c.727+1153_727+1154insCTCCCCTCCCCTTCCCCTCCCCTGCCCT TCCCCTCCCCTGCCCTCCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCC TCCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCA CTCCCCTCCCCTGCCCCCATCTGCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCT CCCTTCCCTCCCCTCCCCTCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCC CTCCCCTCCTTTCTC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CELSR1_chr22_46356174_46542620	46487657	A A	AGGGTGCA others(286): Show AGGGTGCAGGTGGGGGGTGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGA GGCGCGGGGGAGGGGAGTCCGGGGGGCGTGGGGGAGGGGAGTCCAGGGTG CAGGTGGGGGGTGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGAGGCGCG GGGGAGGGGAGTCCGGGGGGCGTGGGGGAGGGGAGTCCAGGGTGCAGGTG GGGGGTGCGGGGGAGGGGAGTCCAGGGTGCGGGGGAGGGGAGTCCAGGGT GCAGGTGGGGGGCACGGAGGAGGGGAGTCCAGGGTGCAGGTGGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	11	0.0909	293	c.354 others(314): Show c.3545-23313_3545-23312insCCCACCTGCACCCTGGACTCCCCT CCTCCGTGCCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCTGGA CTCCCCTCCCCCGCACCCCCCACCTGCACCCTGGACTCCCCTCCCCCACG CCCCCCGGACTCCCCTCCCCCGCGCCTCCCACCTGCACCCTGGACTCCCC TCCCCCGCACCCCCCACCTGCACCCTGGACTCCCCTCCCCCACGCCCCCC GGACTCCCCTCCCCCGCGCCTCCCACCTGCACCCTGGACTCCCCTCCCCC GCACCCCCCACCTGCACCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CENPJ_chr13_24877279_24927861	24881903	G G	GATATATA others(286): Show GATATATAATCTATATAGATATATAATCTATATAGATATATAGATACATA ATCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTAT ATAGATATATAGATACATCTATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0268 a0001c0002t0001g0268	1	411	0.0024	293	c.12 others(304): Show c.1273_*1274insAGATGTATCTATATATAGATGTATCTATATATAG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATAGATGTATCT ATATATCTATATAGATGTATCTATATATCTATATAGATGTATCTATATAT CTATATAGATTATGTATCTATATATCTATATAGATTATATATCTATATAG ATTATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		375		chr13	TogoVar
CHRM2_chr7_136863652_137025213	136972797	C C	CGATGGTG others(286): Show CGATGGTGACGGTGTTAGGGATGGTGGCAGGTGACGATGGTGACGGTGTT AGGGATGGTGGCAGGTGACGATGGTGACGGTGTTAGGGATGGTGGCAGGT GACGATGGTGACGGTGTTAGGGATGGTGGCAGGTGACGATGGTGACGGTG TTAGGGATGGTGGCAGGTGATGATGGTGACGGTGTTAGGGATGGTGGCAG GTGATGATGGTGACGGTGTTAGGGATGGTGGCAGGTGATGATGGTGACGG TGTTAGGGATGGTGGCGACGGTGTTAGGGATGGTGGCAGGTGAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0202 a0001c0001t0004g0202	1	318	0.0031	293	c.-12 others(314): Show c.-124-19221_-124-19220insTGATGGTGACGGTGTTAGGGATGG TGGCAGGTGATGATGGTGACGGTGTTAGGGATGGTGGCAGGTGATGATGG TGACGGTGTTAGGGATGGTGGCGACGGTGTTAGGGATGGTGGCAGGTGAT GATGGTGACGGTGTTAGGGATGGTGGCAGGTGACGATGGTGACGGTGTTA GGGATGGTGGCAGGTGACGATGGTGACGGTGTTAGGGATGGTGGCAGGTG ACGATGGTGACGGTGTTAGGGATGGTGGCAGGTGACGATGGTGACGGTGT TAGGGATGGTGGCAGGTGA	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTN6_chr3_1088024_1409217	1194127	G G	GAAAAAGC others(286): Show GAAAAAGCAACAATTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGG GCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0183 a0001c0006t0001g0183	1	230	0.0043	293	c.56- others(310): Show c.56-26546_56-26545insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAGCAACAATT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATCTATA others(286): Show AATCTATATATAAATATATAAATATATATAAATCTATATATAAATATATA AATATATATAAATCTATATATAAATATATAAATATATATAAATCTATATA TAAATATATAAATATATATAAATCTATATATAAATATATAAATATATATA AATCTATGTATAAATATATAAATATATATAAATATATGTATAAATATATA AATATATATAAATATATGTATAAATATATAAATATATATAAAAATATATA TATGAATATATAAAAAATATAAATATATAAATATATATAAATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0022 a0001c0024t0022	a0001c0024t0022g0147 a0001c0024t0022g0147	1	119	0.0084	293	c.181 others(312): Show c.1812+3391_1812+3392insATATTTATATATATTTATATATTTAT ATTTTTTATATATTCATATATATATTTTTATATATATTTATATATTTATA CATATATTTATATATATTTATATATTTATACATATATTTATATATATTTA TATATTTATACATAGATTTATATATATTTATATATTTATATATAGATTTA TATATATTTATATATTTATATATAGATTTATATATATTTATATATTTATA TATAGATTTATATATATTTATATATTTATATATAGATTTATATATATTTA TATATTTATATATAGAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255622	A A	AGGCAGGC others(286): Show AGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGAGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGC AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0036 a0001c0007t0001g0036	1	322	0.0031	293	c.85- others(310): Show c.85-12889_85-12888insCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCT GCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCT TCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTGCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL6A1_chr21_45976770_46010048	45990459	A A	AGGAGGGA others(286): Show AGGAGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGG GATGGGGTGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGG ACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTG TGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAG ATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGG GTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	1	20	0.0500	293	c.100 others(308): Show c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAA GGTGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGGAATGGGG CGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGA TGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGG AGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC CGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGG AGGGACGGGGAGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	13/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	46006229	G G	GAGGCGGT others(286): Show GAGGCGGTGGGCGGGGCCCGGGGCAGATGGAGTGAGGCGGTGGGCGGGGC CCGGGGCAGACGCAGTGAGGCGGTGGGAGGGGCCCGGGGCAGACGCAGTG AGGCGGTGGGCGGGGCCCGGGGCAGAGGCAGCGGGTGGTGGGCGGGGCCC GGGGCAGACGCAGTGAGGCGGTGGGCGGGGCCGGGGTAGTCGCAGTAGGT GGTGGGCGGGGCCCGGGGCAGACGCAGTGAGGCGGTGGGCGGGGCCGGGG TAGTCGCAGTAGGTGGTGGGCGGGGCCCGGGGCAGACGCAGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0118 a0002c0002t0008g0118	1	95	0.0105	293	c.22 others(304): Show c.2216_*2217insAGGCGGTGGGCGGGGCCCGGGGCAGATGGAGTGA GGCGGTGGGCGGGGCCCGGGGCAGACGCAGTGAGGCGGTGGGAGGGGCCC GGGGCAGACGCAGTGAGGCGGTGGGCGGGGCCCGGGGCAGAGGCAGCGGG TGGTGGGCGGGGCCCGGGGCAGACGCAGTGAGGCGGTGGGCGGGGCCGGG GTAGTCGCAGTAGGTGGTGGGCGGGGCCCGGGGCAGACGCAGTGAGGCGG TGGGCGGGGCCGGGGTAGTCGCAGTAGGTGGTGGGCGGGGCCCGGGGCAG ACGCAGTGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		1182		chr21	TogoVar
CPED1_chr7_120983711_121302442	121047646	T T	TTTCTTCT others(286): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCC TCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCCTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0009 a0001c0003t0013g0009	1	20	0.0500	293	c.540 others(308): Show c.540+687_540+688insCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCTTCCTCTTCCTCT TCCTCTTCCTCTTCCTCTTCCTCCTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CRHBP_chr5_76948045_76974471	76974447	A A	AGGCTGCT others(286): Show AGGCTGCTTGCTATTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCC CAGGCGGGAGTGCTGTGCGCGATCTCCGCTCACTGCAAGCTCCGCCTTCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	298	0.0034	293	c.55 others(304): Show c.5562_*5563insGGCTGCTTGCTATTTTTTTTTTTTTGAGACGGAG TCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGCGCGATCTCCGCTCACTG CAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	CRHBP	ENSG00000145708.11	transcript	ENST00000274368.9	protein_coding		4977		chr5	TogoVar
CROCC2_chr2_240901336_240998311	240924307	C C	CCCCCACA others(286): Show CCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCG GCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTGACC CGGCCCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCCCCACACTA ACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGTCCCCACACT AACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACA CTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02970.hp2 HG02647.hp2 HG02970.hp2	a0020 a0042 a0020 a0042	a0020c0028 a0042c0027 a0020c0028 a0042c0027	a0020c0028t0001 a0042c0027t0003 a0020c0028t0001 a0042c0027t0003	a0020c0028t0001g0048 a0042c0027t0003g0047 a0020c0028t0001g0048 a0042c0027t0003g0047	2	266	0.0075	293	c.489 others(310): Show c.489-1413_489-1412insACACTAACCCAGTCCCCACACTGACCCA GCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCC GGCCCCCCACACTGACCCGGCCCCCCACACTGACCCAGTCCCCACACTAA CCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACT AACCCGGTCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACA CTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCA CACTAACCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(286): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAG GGAGGGGAGGGGGAGGGGAGGGAGAGGGGAGGGAGAGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0019 a0019	a0019c0082 a0019c0082	a0019c0082t0051 a0019c0082t0051	a0019c0082t0051g0097 a0019c0082t0051g0097	1	16	0.0625	293	c.416 others(314): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCTCCCCCT CCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCCTCCCCTCTCC CTCCCCTCCCCCTCCCCTCCCTCTCCCCTCCCCCTCCTCTCCCCCTCCCC TCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCACATCCC CCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(286): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02083.hp2 HG02735.hp2 HG01070.hp1 HG02083.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0144 a0001c0001t0001g0184 a0001c0001t0002g0359 a0001c0001t0001g0144 a0001c0001t0001g0184 a0001c0001t0002g0359	3	275	0.0109	293	c.-27 others(314): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAATTTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GTCACCAC others(286): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGCTGCCACCACTACCTGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0097 a0002c0002t0001g0097	1	314	0.0032	293	c.513 others(308): Show c.513-927_513-926insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACC CGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCCCACCAC CATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCG CCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232275	T T	TATTACTG others(286): Show TATTACTGTCACCACTACCTGCCCACCACTATTACTGTCACCACTACCTG CCCACCACCATTACTGCTGCCACCACTACCTGCCCACCACCATTACTGTC ACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCA TTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCC CACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCAC TACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	36	0.0278	293	c.513 others(308): Show c.513-895_513-894insTCACCACTACCTGCCCACCACTATTACTGT CACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCTGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCAT TACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCC ACCACCATTACTG	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CYP4F12_chr19_15668087_15702174	15677051	C C	CACACACT others(286): Show CACACACTCATTCCTCACTCACTCGTTCATCTACCCACTCAACCTTTCCT CTTGTCATGTACTCATTCCTCTACCCACACACTCATTCCTCTCCTCACTC ACTCATTCCTCTACCCATGCACTCATTCCTCTCACTCATTCCTTCCTCTC CTCACTCACTCATTCTTCTGCTCACTCAATCATTCCTTCCTCTCCTCACT CACTCATTCTTCTGCTCACTCACTCATTCCTCTACCCGTGCACCCACTCC TCTCCTCACTCATTCCTTCCTCTCCTCACTCACTCATTCTTCTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02818.hp2 HG03486.hp1 others(1): Show HG02257.hp2 HG02818.hp2 HG03486.hp1 NA19030.hp2	a0005 a0012 a0014 a0005 a0012 a0014	a0005c0007 a0012c0022 a0014c0021 a0005c0007 a0012c0022 a0014c0021	a0005c0007t0004 a0012c0022t0007 a0014c0021t0004 a0005c0007t0004 a0012c0022t0007 a0014c0021t0004	a0005c0007t0004g0229 a0005c0007t0004g0230 a0012c0022t0007g0225 others(1): Show a0005c0007t0004g0229 a0005c0007t0004g0230 a0012c0022t0007g0225 a0014c0021t0004g0224	4	404	0.0099	293	c.199 others(310): Show c.199-1210_199-1209insACACACTCATTCCTCACTCACTCGTTCA TCTACCCACTCAACCTTTCCTCTTGTCATGTACTCATTCCTCTACCCACA CACTCATTCCTCTCCTCACTCACTCATTCCTCTACCCATGCACTCATTCC TCTCACTCATTCCTTCCTCTCCTCACTCACTCATTCTTCTGCTCACTCAA TCATTCCTTCCTCTCCTCACTCACTCATTCTTCTGCTCACTCACTCATTC CTCTACCCGTGCACCCACTCCTCTCCTCACTCATTCCTTCCTCTCCTCAC TCACTCATTCTTCTG	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12			chr19	TogoVar
CYSLTR1_chrX_78266468_78332611	78269067	A A	ATTATATA others(286): Show ATTATATATTATATATATTATATAATATATATAATATATATATAATATAT AATATATAATATATTATTATATATATTATAAATTATATAATATATATAAT ATATATATTATATATAATATATTATATATTATATAATATATAATATATAT AATATATAATATATTATATATAATATATTATATATTATATAATATATATA TAATATATAATATATTATATATAATATATTATATATTATATAATATATAT ATAATATATAATATATAATATATATATTATATATAATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	164	0.0061	293	c.36 others(304): Show c.3665_*3666insATTATATATTATATATAATATATATATTATATAT TATATATTATATATATATTATATAATATATAATATATTATATATAATATA TTATATATTATATATATATTATATAATATATAATATATTATATATAATAT ATTATATATTATATATATTATATATTATATAATATATAATATATTATATA TAATATATATATTATATATATTATATAATTTATAATATATATAATAATAT ATTATATATTATATATTATATATATATTATATATATTATATAATATATAT AATATATAA	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2400		chrX	TogoVar
DCDC1_chr11_30858603_31374739	31213100	C C	CTCTCTCT others(286): Show CTCTCTCTCGTCTCTCTCTCTCTCTCTCTCTCCATCTCTCTCTCTCCTCT CTTCTCTCTCTCTTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTTCTCTCTCTCTCCTCTCCTCTCCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0116 a0006c0007t0001g0116	1	12	0.0833	293	c.122 others(314): Show c.1221+28349_1221+28350insAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGGAGAGGAGAGGAGAGAGAGAGAAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAG AGAGAGAAGAGAGAGAGAAGAGAGGAGAGAGAGAGATGGAGAGAGAGAGA GAGAGAGAGACGAGAGAGA	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	9/38			chr11	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(286): Show GCTATAACCACCACTACCACCACTACCACTATGATAACCATCACCAACAC CACTATAACCACCAATGCCAAGAAGTGTTCATAGCAGGAGTCATAAACAC AGGACCAACCAGGGATAGGACCAACCAGGACCAACCAGGACCAACACCAC CACCACTACTACCACTACTATAACCATCACCACCATCACTGCTATAATCA CCACCACCACCACCATCACTATAACCATCACCATCATCACCACTATAACC ACCACTACCACCACCACCACCAGTTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0225 a0001c0006t0005g0225	1	83	0.0120	293	c.724 others(312): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGATGGTGATGGTTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(286): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGG GGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAG TCGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	164	0.0061	293	c.-42 others(304): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGG GGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DGKB_chr7_14140049_14907751	14212111	T T	TTTTATTT others(286): Show TTTTATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATAT TTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCT CATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTATTTACTCTCATG TTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGT GATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTA TTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	103	0.0097	293	c.212 others(314): Show c.2123-33961_2123-33960insTATCACAAAACATGAGAGTAAATA TCACAAAACATGAGAGTAAATAAAATCACAAAACATGAGAGTAAATATCA CAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACA TGAGAGTAAATATCACAAAACATGAGAGTAAATAAAATCACAAAACATGA GAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAA ATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACA AAACATGAGAGTAAATAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DIP2C_chr10_269201_694668	478371	G G	GGGAGGGG others(286): Show GGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAG GGGAGAGGGGAGGGGAGAGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAGG AGGCGAGGGGAGAAGAAGGGAGGGGAGGGAGGGGAGGGGAGGGGAGAAGA AGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGAAGAAGGGAAGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGGGAGGGGA GAGGAGGAGAGAAGGAGAGGGGCGGGGCGGGGCAGGGCGGGGCA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0058 a0001c0002t0003g0058	1	80	0.0125	293	c.158 others(310): Show c.158-5823_158-5822insTGCCCCGCCCTGCCCCGCCCCGCCCCTC TCCTTCTCTCCTCCTCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCTTCTTCTCCCTTCTTCTCCCCTCCC CTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCTCCCCTCCCT TCTTCTCCCCTCGCCTCCTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCTC TCCCCTCCCCTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCC CTTCTTCTCCCCTCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	ATATATAT others(286): Show ATATATATATATATATATATATACACATACATATACATATATACACATAC ATATACATATATACACATACATATACATATATACACATACATATATATAT ACATATATATATACATATATATATACGTATATATACGTGTATATATATAT ACATATATATATATACGTGTGTATATATATACACATATATATATACACGT ATATATATACACATATATATATATACACATATATATATATACACACATAT ATATATATACACATATATATATATACACATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0117 a0002c0002t0001g0117	1	82	0.0122	293	c.730 others(312): Show c.7305+1447_7305+1448insGTATATATATATATATGTGTATATAT ATATATGTGTATATATATATATGTGTGTATATATATATATGTGTATATAT ATATATGTGTATATATATACGTGTATATATATATGTGTATATATATACAC ACGTATATATATATATGTATATATATATACACGTATATATACGTATATAT ATATGTATATATATATGTATATATATATGTATGTGTATATATGTATATGT ATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGTATAT ATATATATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DPYSL2_chr8_26509031_26663175	26556316	A A	AGTATATA others(286): Show AGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTATA TATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATA TAGTATATATATAGTATATATATATAGTATATATATAGTATATATATAGT ATATATATAGTATATATATAGTGTATATATATAGTATATATATAGTGTAT ATATATAGTATATATATAGTATATATAGTATATATATAGTATATATATAG TATATATAGTATATATATGTATATATATATAGTATATATATAGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0162	1	297	0.0034	293	c.355 others(312): Show c.355-25653_355-25652insGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATATATAG TATATATATAGTATATATATAGTATATATATAGTATATATATAGTGTATA TATATAGTATATATATAGTGTATATATATAGTATATATATAGTATATATA GTATATATATAGTATATATATAGTATATATAGTATATATATGTATATATA TATAGTATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(286): Show ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATATAGTATATATATAGTATATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATAGTGTATATATATAGTA TATATATAGTGTATATATATAGTATATATATAGTATATATAGTATATATA TAGTATATATATAGTATATATAGTATATATATGTATATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATATAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	248	0.0040	293	c.355 others(312): Show c.355-25620_355-25619insGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAG TGTATATATATAGTATATATATAGTGTATATATATAGTATATATATAGTA TATATAGTATATATATAGTATATATATAGTATATATAGTATATATATGTA TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(286): Show ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATAT ATAGTATATATATAGTATATATATATAGTGTATATATATAGTATATATAT AGTGTATATAGTATATATATAGTATATATATAGTGTATATAGTATATATA TAGTATATATATAGTATATATAGTATATATATGTATATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATATAG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0190 a0001c0002t0006g0190	1	248	0.0040	293	c.355 others(312): Show c.355-25620_355-25619insGTATATATATAGTATATATATAGTAT ATATATAGTATATATATATAGTATATATATAGTATATATATATAGTATAT ATATAGTATATATATATAGTATATATATAGTATATATATATAGTGTATAT ATATAGTATATATATAGTGTATATAGTATATATATAGTATATATATAGTG TATATAGTATATATATAGTATATATATAGTATATATAGTATATATATGTA TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
EIPR1_chr2_3183970_3382818	3316029	C C	CACCACCA others(286): Show CACCACCATCACCACCATCCCCATACACACCCCCTACCACCACCATCACC ACCATCCCCATACACACCCCCTACCACCACCATCACCACCATCCCCATAC ACACCCCCTACCACCATCCTCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCATACACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCCT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	231	0.0043	293	c.259 others(312): Show c.259+21987_259+21988insAGGGGGTGTGTATGGGGATGGTGGTG ATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAG GGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGG GGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAG GATGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGG GGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGG ATGGTGGTGATGGTGGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EML1_chr14_99788413_99947060	99927953	G G	GATGGTGG others(286): Show GATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG ATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0004 a0004c0008t0004	a0004c0008t0004g0268 a0004c0008t0004g0268	1	285	0.0035	293	c.190 others(312): Show c.1909+7076_1909+7077insATGGTGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGAGGTG GTGGTGGTGGTGGTGGT	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(286): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03669.hp1 HG03017.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0060 a0001c0001t0001g0061	2	377	0.0053	293	c.83+ others(306): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGCA TTTAAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
F13B_chr1_197033741_197072260	197042728	G G	GAAGAATC others(286): Show GAAGAATCTCTTGACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp2 HG02027.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0101 a0001c0001t0001g0083 a0001c0001t0001g0101	2	143	0.0140	293	c.173 others(312): Show c.1739-1994_1739-1993insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGTCAAGAGATTCTT	F13B	ENSG00000143278.5	transcript	ENST00000367412.2	protein_coding	10/11			chr1	TogoVar
FADS2_chr11_61823300_61872354	61852833	G G	GGGAGGGA others(286): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAAGAAAGAGAAAGAAAGA GAAGAAAGAAAGAGTGACTACACTTTTTTTCTGTTTGTTTTGTTTTGTTT TGTTGTTGTTGTTGTTGTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGC TGGAGTGCAGTGGTGCTATCTCAGCTCACTGCAACCTCCGCCTCCCAGGT TCAAGCGATTCTCTTGCCTCAGCCTCCAGAGTAGCCGAGACTACAGGCGT GTGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAATCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	278	0.0036	293	c.745 others(310): Show c.745-4178_745-4177insGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAAAGAAAGAGAAAGAAAGAGAAGAAAGAAAGAGTGACTACACTTTTTT TCTGTTTGTTTTGTTTTGTTTTGTTGTTGTTGTTGTTGTTTTGAGACGGA GTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTCAGCTCAC TGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCAG AGTAGCCGAGACTACAGGCGTGTGCCACCATGCCCAGCTAATTTTTTGTA TTTTTAGTAGAATCC	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding	5/11			chr11	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(286): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0257 a0001c0003t0001g0257	1	260	0.0038	293	c.189 others(312): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCG CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCT CCCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FMN1_chr15_32760544_33199714	32821096	T T	TCACAGAT others(286): Show TCACAGATTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTAGTAGAGACGGG GTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0134 a0004c0010t0001g0134	1	151	0.0066	293	c.392 others(314): Show c.3929-16765_3929-16764insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAGAAAATCTGTG	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	17/20			chr15	TogoVar
FOXP1_chr3_70949708_71588728	71139606	A A	ATGGGAAA others(286): Show ATGGGAAATGAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02723.hp2 HG03041.hp2 HG02622.hp1 HG02723.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0064 a0001c0001t0071 a0001c0001t0005 a0001c0001t0064 a0001c0001t0071	a0001c0001t0005g0009 a0001c0001t0064g0088 a0001c0001t0071g0067 a0001c0001t0005g0009 a0001c0001t0064g0088 a0001c0001t0071g0067	3	90	0.0333	293	c.181 others(312): Show c.181-26970_181-26969insGCACTTTGGGAGGCCGAGGCGGGCGG ATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAGAGTTCATTTCCCA	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	6/20			chr3	TogoVar
FRK_chr6_115926149_116065891	115985917	T T	TAGAATGC others(286): Show TAGAATGCTGAGTGCTTGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCTGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCACCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0065 a0002c0002t0002g0065	1	183	0.0055	293	c.467 others(312): Show c.467-17179_467-17178insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CAAGCACTCAGCATTCT	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	2/7			chr6	TogoVar
FRK_chr6_115926149_116065891	115985917	T T	TAGAATGC others(286): Show TAGAATGCTGAGTGCTTGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCTGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(45): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG01069.hp2 HG01099.hp2 HG01109.hp2 HG01346.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG02040.hp1 HG02040.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02602.hp2 HG02683.hp1 HG02886.hp1 HG03041.hp1 HG03239.hp2 HG03492.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 NA18959.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18978.hp2 NA18983.hp2 NA18989.hp2 NA18993.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19068.hp1 NA19074.hp1 NA19087.hp1 NA20129.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0009 a0002c0002 others(2): Show a0001c0001 a0001c0009 a0002c0002 a0002c0006 a0006c0008	a0001c0001t0012 a0001c0001t0026 a0001c0009t0012 others(14): Show a0001c0001t0012 a0001c0001t0026 a0001c0009t0012 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0009 a0002c0002t0019 a0002c0002t0021 a0002c0002t0036 a0002c0002t0040 a0002c0002t0041 a0002c0002t0045 a0002c0002t0048 a0002c0002t0053 a0002c0006t0012 a0006c0008t0002	a0001c0001t0012g0111 a0001c0001t0026g0245 a0001c0009t0012g0120 others(45): Show a0001c0001t0012g0111 a0001c0001t0026g0245 a0001c0009t0012g0120 a0002c0002t0001g0015 a0002c0002t0001g0029 a0002c0002t0001g0053 a0002c0002t0001g0090 a0002c0002t0002g0020 a0002c0002t0002g0022 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0030 a0002c0002t0002g0035 a0002c0002t0002g0037 a0002c0002t0002g0040 a0002c0002t0002g0042 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0051 a0002c0002t0002g0056 a0002c0002t0002g0060 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0074 a0002c0002t0002g0077 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0083 a0002c0002t0002g0129 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0175 a0002c0002t0004g0033 a0002c0002t0004g0088 a0002c0002t0004g0171 a0002c0002t0009g0099 a0002c0002t0019g0054 a0002c0002t0019g0176 a0002c0002t0021g0007 a0002c0002t0021g0008 a0002c0002t0036g0045 a0002c0002t0040g0011 a0002c0002t0041g0082 a0002c0002t0045g0078 a0002c0002t0048g0089 a0002c0002t0053g0061 a0002c0006t0012g0097 a0006c0008t0002g0048	48	230	0.2087	293	c.467 others(312): Show c.467-17179_467-17178insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CAAGCACTCAGCATTCT	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	2/7			chr6	TogoVar
FRMPD4_chrX_12133473_12729523	12332041	C C	CTATATAT others(286): Show CTATATATAAATTATATATATTTATATACTATATATAAATTATATATATT TATATACTATATATAAATATATATATTTATATACTATATATAAATTATAT ATATTTATATACTATATATAAATATATATATTTATATACTATATATAAAT TATATATATTTATATACTATATATAAATTATATAATTTATATACTATATA TAAATTATATATATTTATATACTATATATAAATTATATATATTATATATT TATATACTATATATAAATTATATATATTATATATTTATATACTA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02965.hp1 HG03195.hp2 others(1): Show HG01074.hp1 HG02965.hp1 HG03195.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0002 a0001c0006t0001 a0001c0007t0001 a0001c0001t0002 a0001c0006t0001 a0001c0007t0001	a0001c0001t0002g0025 a0001c0001t0002g0038 a0001c0006t0001g0016 others(1): Show a0001c0001t0002g0025 a0001c0001t0002g0038 a0001c0006t0001g0016 a0001c0007t0001g0018	4	167	0.0240	293	c.42- others(312): Show c.42-166623_42-166622insATATTTATATACTATATATAAATTAT ATATATTTATATACTATATATAAATATATATATTTATATACTATATATAA ATTATATATATTTATATACTATATATAAATATATATATTTATATACTATA TATAAATTATATATATTTATATACTATATATAAATTATATAATTTATATA CTATATATAAATTATATATATTTATATACTATATATAAATTATATATATT ATATATTTATATACTATATATAAATTATATATATTATATATTTATATACT ATATATATAAATTATAT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FTCD_chr21_46131779_46160579	46145767	C C	CCGCCCTC others(286): Show CCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCCCTCCCCTT CCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCC CTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCTTCCCCCCACCC CGCGCTCCCCCCAACAGCGCCCTCCCCCCCAACAGCGCCCTCCCCCCAAC AGCGCCCTCCCCCCCAACAACTGTGCCCTCCCCTTCCCCCTCCCCGCCCT CCCCCCAACAGCGCCCTTCCCCCTCCCCGCCCTCCCCCCAACAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0015 a0015	a0015c0028 a0015c0028	a0015c0028t0002 a0015c0028t0002	a0015c0028t0002g0162 a0015c0028t0002g0162	1	170	0.0059	293	c.109 others(308): Show c.1098+50_1098+51insCTGTTGGGGGGAGGGCGGGGAGGGGGAAGG GCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCACAGTTGTTG GGGGGGAGGGCGCTGTTGGGGGGAGGGCGCTGTTGGGGGGGAGGGCGCTG TTGGGGGGAGCGCGGGGTGGGGGGAAGGCGCTGTTGGGGGGAGGGCGGGG AGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGA GGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGT TGGGGGGAGGGCG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
GAL3ST2_chr2_241771822_241809287	241805963	T T	TCTGCAGG others(286): Show TCTGCAGGCCACCCTCCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCT CCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	245	0.0041	293	c.17 others(304): Show c.1797_*1798insCTGCAGGCCACCCTCCCTCCCTCCCCCTCAACCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAG GCCACCCTC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1677		chr2	TogoVar
GLB1L3_chr11_134271379_134324564	134308253	T T	TCACCACC others(286): Show TCACCACCACCACCATCATCACCATCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCAAATACCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCAAATACCACCACCACCACCATGTCCACCACCAC TACCACCACCATCACCATCACCACCACCACCACCACCATCACCATCACCA TCATCACCATCACCTCCACCACCACCACCACTATCACCACCATCACCATC ACCACCATCACCACCATCACCATCACCACCACCACCACCATCAC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0054 a0001c0003t0001g0054	1	304	0.0033	293	c.961 others(310): Show c.961+1059_961+1060insTCATCACCATCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCAAATACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCAAATACCACCACCACCACCATGTCCA CCACCACTACCACCACCATCACCATCACCACCACCACCACCACCATCACC ATCACCATCATCACCATCACCTCCACCACCACCACCACTATCACCACCAT CACCATCACCACCATCACCACCATCACCATCACCACCACCACCACCATCA CCACCACCACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLIS3_chr9_3819127_4305068	4237129	C C	CAAAAATA others(286): Show CAAAAATAATCCTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCA GGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00558.hp1 others(27): Show HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00642.hp2 HG01071.hp1 HG01071.hp2 HG01175.hp2 HG01361.hp1 HG01517.hp2 HG01981.hp1 HG02027.hp2 HG02300.hp1 HG03239.hp1 HG03239.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG04115.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18971.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA19007.hp2 NA19062.hp1 NA20752.hp2	a0001 a0002 a0011 others(2): Show a0001 a0002 a0011 a0014 a0022	a0001c0001 a0001c0012 a0002c0002 others(4): Show a0001c0001 a0001c0012 a0002c0002 a0002c0015 a0011c0017 a0014c0013 a0022c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0017 a0001c0001t0027 a0001c0001t0031 a0001c0001t0041 a0001c0001t0058 a0001c0001t0061 a0001c0001t0069 a0001c0001t0081 a0001c0012t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0009 a0002c0002t0011 a0002c0002t0056 a0002c0002t0072 a0002c0002t0073 a0002c0015t0005 a0011c0017t0063 a0014c0013t0001 a0022c0021t0002	a0001c0001t0001g0104 a0001c0001t0003g0110 a0001c0001t0003g0181 others(27): Show a0001c0001t0001g0104 a0001c0001t0003g0110 a0001c0001t0003g0181 a0001c0001t0005g0099 a0001c0001t0005g0149 a0001c0001t0005g0151 a0001c0001t0008g0130 a0001c0001t0017g0070 a0001c0001t0027g0134 a0001c0001t0027g0139 a0001c0001t0031g0165 a0001c0001t0041g0055 a0001c0001t0058g0164 a0001c0001t0061g0145 a0001c0001t0069g0118 a0001c0001t0081g0188 a0001c0012t0001g0115 a0002c0002t0001g0096 a0002c0002t0001g0105 a0002c0002t0003g0123 a0002c0002t0003g0135 a0002c0002t0009g0014 a0002c0002t0011g0066 a0002c0002t0056g0053 a0002c0002t0072g0167 a0002c0002t0073g0119 a0002c0015t0005g0166 a0011c0017t0063g0174 a0014c0013t0001g0129 a0022c0021t0002g0154	30	187	0.1604	293	c.388 others(312): Show c.388+48908_388+48909insATTTTATTTTTTTTTTTTTTGAGACA GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCAGGATTATTTTT	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	2/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	4237129	C C	CAAAAATA others(286): Show CAAAAATAATCCTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0078 a0001c0001t0016g0078	1	158	0.0063	293	c.388 others(312): Show c.388+48908_388+48909insATTTTATTTTTTTTTTTTTTGAGACA GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCAGGATTATTTTT	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	2/10			chr9	TogoVar

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