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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ATP9B_chr18_79064394_79383283	79326371	G G	GTACCCTT others(362): Show GTACCCTTCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTCC CTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCA CATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTT AGGGTGTCATCTCTGTACCCTTCCTCCCCTCACATGGTGTTAGTGTGTCA TCTCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTATAC CCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCC CCTCACATGGTGTTAGGGTGTCATCCCTGCACACTCCTTCCCCTCACATG GTGTTAGGGTGTCATCTCTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	298	0.0034	369	c.177 others(388): Show c.1774-2764_1774-2763insTCCTCCCCTCACATGGTGTTAGTGTG TCATCTCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTG TACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCC TCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTTCCTCCCCTCAC ATGGTGTTAGTGTGTCATCTCTGCACACTCCCTCCCCTCACATGGTGTTA GGGTGTCATCTCTATACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCAT CTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCCCTGCACA CTCCTTCCCCTCACATGGTGTTAGGGTGTCATCTCTATACCCT		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
AXDND1_chr1_179360971_179559735	179522820	A A	AATATCCT others(362): Show AATATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0301 a0004c0005t0001g0301	1	356	0.0028	369	c.249 others(388): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ATATATATATATATATATATATATATATATATATATCCTAATT		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
B3GAT1_chr11_134373508_134417242	134408804	G G	GATTCCAG others(362): Show GATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTCCACCGATTCCAGT GGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAGG AGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTG GGACAGCCTCCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCT GCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGACT CCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCTATTCCAGTGGGG TGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGG AGGTGGGATAGCCTCCACCT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0259 a0001c0001t0004g0259	1	352	0.0028	369	c.-28 others(388): Show c.-282+3002_-282+3003insAGGTGGAGGCTATCCCACCTCCCTCC TCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCAC TGGAATAGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTCGG TGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATCGGTGCAGGCTG TCCCACCTCCCTCCTCACCCCACTGGAATCGGTGGAGGCTGTCCCACCTC CCTCCTCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCAC CCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGA ATCGGTGGAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAAT		B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5						chr11	TogoVar
B4GALNT4_chr11_364499_387117	374967	A A	AAGGGAGG others(362): Show AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0141 a0002c0002t0001g0141	1	184	0.0054	369	c.784 others(384): Show c.784-453_784-452insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BBS9_chr7_33124564_33611069	33155705	A A	AAGAAATA others(362): Show AAGAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	268	0.0037	369	c.328 others(382): Show c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAGAAATATTTTT		BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr7	TogoVar
BDH1_chr3_197504783_197560968	197517199	A A	ACCCATCA others(362): Show ACCCATCAGTCACTTCCTGCTCTATGGTCTCTGTCCCCCCCTCAGGCCGA CCCCCACATCAGTCATTTCCTGCTCTATGGTCTCCATCCCCCCCTCAGGC CGACCCCCGCATCAGTCATTTCCTGCTCTATGGTCTCCATCCCCCCCTCA GGCCGACCCCATCAGTCACTTCCTGCTGTATGTCTCCATCCCCTCCTCAG GCTGACCCCCCCACCCCATCAGTCATTTCCTGCTCTATGGTCTCCATCCC CCCTCAGGCCGACCCCCTCATCAGTCATTTCCTGCTCTATGGTCTCCATC CCCCTTCAGGCCGACCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCCA TCCCCCTTCAGGCCGACCCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0250 a0001c0001t0088g0250	1	319	0.0031	369	c.410 others(386): Show c.410-2784_410-2783insGGGGTCGGCCTGAAGGGGGATGGAGACC ATAGAGCAGGAAGTGACTGATGGGGGGGTCGGCCTGAAGGGGGATGGAGA CCATAGAGCAGGAAATGACTGATGAGGGGGTCGGCCTGAGGGGGGATGGA GACCATAGAGCAGGAAATGACTGATGGGGTGGGGGGGTCAGCCTGAGGAG GGGATGGAGACATACAGCAGGAAGTGACTGATGGGGTCGGCCTGAGGGGG GGATGGAGACCATAGAGCAGGAAATGACTGATGCGGGGGTCGGCCTGAGG GGGGGATGGAGACCATAGAGCAGGAAATGACTGATGTGGGGGTCGGCCTG AGGGGGGGACAGAGACCATAGAGCAGGAAGTGACTGATGGG		BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7						chr3	TogoVar
C1orf21_chr1_184382029_184634019	184483602	T T	TTGCTTTT others(362): Show TTGCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0149 a0001c0001t0016g0149	1	232	0.0043	369	c.94+ others(384): Show c.94+6009_94+6010insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTGCTTTTCTT		C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CCR9_chr3_45881543_45908174	45890256	G G	GAAATATA others(362): Show GAAATATATATATATATTTATATAAATATATATATAACATATATATATAT TTATATAAATATATATATAACATATATATATATTTATATAAATATATATA TAACATATATATATTTATATAAATATATATATAACATATATATATTTATA TAAATATATATATAACATATATATATTTATATAAATATATATATAACATA TATATATATTTATATAAATATATATATAACATATATATATTTATATAAAT ATATATATAACATATATATATTTATATAAATATATATATAACATATATAT ATTTATATAAATATATATATAACATATATATATTTATATAAATATATATA TAACATATATATATTTATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	424	0.0024	369	c.-29 others(386): Show c.-29+3614_-29+3615insTATTTATATAAATATATATATAACATAT ATATATATTTATATAAATATATATATAACATATATATATATTTATATAAA TATATATATAACATATATATATTTATATAAATATATATATAACATATATA TATTTATATAAATATATATATAACATATATATATTTATATAAATATATAT ATAACATATATATATATTTATATAAATATATATATAACATATATATATTT ATATAAATATATATATAACATATATATATTTATATAAATATATATATAAC ATATATATATTTATATAAATATATATATAACATATATATATTTATATAAA TATATATATAACATATATATATTTATATAAATATATATATA		CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
CD247_chr1_167425640_167523529	167435100	C C	TCAGCCCT others(362): Show TCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTCCTCC GGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCC AGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCA GCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGG AGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAG CCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGC CCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAG CCCTCCTCCAGCCCTTCCTC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0283 a0001c0001t0003g0283	1	374	0.0027	369	c.336 others(384): Show c.336+299_336+300insAGGAAGGGCTGGAGGAGGGCTCCGGAGGAA GGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAG GGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGG CTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGG GCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGG CTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCT CCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAGGGCT GGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGA		CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7						chr1	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(362): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCC CTCCCCCCCTCCCCTCCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCTCC CCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCTCTCCCTCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0240 a0001c0001t0009g0240	1	256	0.0039	369	c.-45 others(390): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCCCTCCCCCCTCCC CTCCCCTCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCC CTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTCTCCCTTCCCCTCCTCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC		CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPJ_chr13_24877279_24927861	24882133	G G	GATATATA others(362): Show GATATATAGATACATCATCTATATAGATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTAGATATATAGATACATCTATATAGAT ATATAGATACATCTATATAGATATATAGATACATCTATATAGATATATAA TCTATATAGATACATCTATATAGATATATAATCTATATAGATACATCTAT ATAGATATATAGATACATCTATATAGATATATAGATACATCTATATAGAT ATATAGATACATCTATATAGATACATCTATATAGATACATCTATATAGAT ATATAGATACATCTATATAGATATATAGATACATCTATATAGATATATAG ATACATCTATATATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0071 a0002c0003t0009g0071	1	440	0.0023	369	c.10 others(380): Show c.1043_*1044insATATCTATATATAGATGTATCTATATATCTATAT AGATGTATCTATATATCTATATAGATGTATCTATATATCTATATAGATGT ATCTATATAGATGTATCTATATAGATGTATCTATATATCTATATAGATGT ATCTATATATCTATATAGATGTATCTATATATCTATATAGATGTATCTAT ATAGATTATATATCTATATAGATGTATCTATATAGATTATATATCTATAT AGATGTATCTATATATCTATATAGATGTATCTATATATCTATATAGATGT ATCTATATATCTAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATCTATATAGATGATGTATCTATATAT		CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding					145		chr13	TogoVar
CEP72_chr5_607340_658553	650586	G G	GTGAGGCG others(362): Show GTGAGGCGTGGACTGTGAGGCGTGACTGAGGCGTGACTGTGAGGCGTGAC TGTGAGGCGTGGACTGTGAGGCGTGACTGTGAGGCGTGACTGTGAGGTGT GCCTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGGGTGACTGTGAG GTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGA GGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACT GTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTG GACTGTGAGGCGTGGACTGTGTGGTGTGACTGTGAGGCGTGGACTGTGAG GTGTGACTGTGAGGTGTGAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	91	0.0110	369	c.177 others(388): Show c.1779-2400_1779-2399insAGGCGTGGACTGTGAGGCGTGACTGA GGCGTGACTGTGAGGCGTGACTGTGAGGCGTGGACTGTGAGGCGTGACTG TGAGGCGTGACTGTGAGGTGTGCCTGTGAGGCGTGGACTGTGAGGCGTGG ACTGTGAGGGGTGACTGTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTG GACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGG TGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGT GAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGTGGTGTGA CTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTG		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP61_chr20_20047532_20365698	20355435	G G	GTACTCAC others(362): Show GTACTCACACTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTAGTGACACTGTGAGCAGAGATGGTCACACTGTGAGGG GAGGGGGTCACACTGTGAGGGGGAAGGTGGTCACACTGTGAGAGGGGAGA AGGTCACACTAAGGGGAGGTAGTCACACTGTGAGGGGAGGTGATCACACT AAGGGGAGGTGGTCACACTGTGAGAGGAGGTGGTCACACTGTGAGAGGAG GTGGTCACACTGTGAGGGGAGGTCACACTGAGGGGAGGTAGTGACACTAT GAGCAGAGATGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGGGAGGT AGTGACACTGTGAGCAGAGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	236	0.0042	369	c.351 others(388): Show c.3514-4774_3514-4773insACTCACACTGTGAGGGGAGGTGGTCA CACTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTAGTGACACTGTGAGC AGAGATGGTCACACTGTGAGGGGAGGGGGTCACACTGTGAGGGGGAAGGT GGTCACACTGTGAGAGGGGAGAAGGTCACACTAAGGGGAGGTAGTCACAC TGTGAGGGGAGGTGATCACACTAAGGGGAGGTGGTCACACTGTGAGAGGA GGTGGTCACACTGTGAGAGGAGGTGGTCACACTGTGAGGGGAGGTCACAC TGAGGGGAGGTAGTGACACTATGAGCAGAGATGGTCACACTGTGAGGGGA GGTGGTCACACTGAGGGGAGGTAGTGACACTGTGAGCAGAGAT		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
CMIP_chr16_81439808_81716762	81704284	C C	CCTCTTCC others(362): Show CCTCTTCCCTGCCCCCTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCC TGCCCCCTCCCCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCTTC ACCCTCCTCCCTGCTCCCCTCACCCTCTTCCCTGCCCCCTCACCCTCCTC CCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCC CTTACTCTCCTCCCTGCCCCTTCACCCTCCTCCCTGTCCCCCTTACTCTC CTCCCTGCCCCCTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCC CCCTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCC TCCTCCCTGTCCCCCTTACT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	268	0.0037	369	c.209 others(386): Show c.2091+202_2091+203insTTCCCTGCCCCCTCACCCTCCTCCCTGT CCCCCTTACTCTCCTCCCTGCCCCCTCCCCCTCCTCCCTGTCCCCCTTAC TCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTCCCCTCACCCTCTTCCC TGCCCCCTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTC ACCCTCCTCCCTGCCCCCCTTACTCTCCTCCCTGCCCCTTCACCCTCCTC CCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCCTGTCCCC CTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCCTGTCCCCCTTACTCTC CTCCCTGCCCCCTCACCCTCCTCCCTGTCCCCCTTACTCTC		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CNBD1_chr8_86861415_87387859	87136902	A A	ATAAATTA others(362): Show ATAAATTATATATTATATTTATATTATATATAAATTATATATTATATTTA TATTATATATAAATTATATATTTATATTATATATAAATTATATATTTATA TTATATATAAATATATATATTTATATAAAATATAAATATATATATTATAT ATAATATAAATATATATATTTATATATGTATATTTATATATAATATAAAT TATATAATTTATATTATATATAAATTATATAATTTATATTATATATAAAT ATATATATTTATATTCTATATAAATTATATAATTTATATTCTATATAAAT TATATAATTTATATTCTATATAAATTATATAATTTATATTCTATATAAAT ATATATATTTATATTCTATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02451.hp2 HG00140.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0136 a0001c0001t0001g0137	2	152	0.0132	369	c.432 others(388): Show c.432-69067_432-69066insATATATAAATTATATATTATATTTAT ATTATATATAAATTATATATTTATATTATATATAAATTATATATTTATAT TATATATAAATATATATATTTATATAAAATATAAATATATATATTATATA TAATATAAATATATATATTTATATATGTATATTTATATATAATATAAATT ATATAATTTATATTATATATAAATTATATAATTTATATTATATATAAATA TATATATTTATATTCTATATAAATTATATAATTTATATTCTATATAAATT ATATAATTTATATTCTATATAAATTATATAATTTATATTCTATATAAATA TATATATTTATATTCTATGTAAATTATATATTATATTTATATT		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
COL4A1_chr13_110143963_110312157	110255884	A A	AAGGGGGA others(362): Show AAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAGGGGGGAAGGCAGGAAGGGAGGGGGGAAGGCAGGAAGGGAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0137 a0004c0005t0001g0137	1	344	0.0029	369	c.85- others(386): Show c.85-13151_85-13150insCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCCTCCCTTCCTGCCTTCCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCT		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51						chr13	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(362): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGG AGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAG GGGGAGGGGAAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGA AGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0080 a0003c0003t0005g0080	1	216	0.0046	369	c.923 others(388): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTC CCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCT CCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC		DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9						chr6	TogoVar
DLGAP2_chr8_732628_1713476	1035058	G G	GCTCATCC others(362): Show GCTCATCCCGACCCCACGTGTCACCGCGAGTGGGTTCACACGCTCATCCC GACCCCGCGTGTCACCGCGAGTGGGTTCACAGCCTCATCCCGACCCCGCG TGTCACCGCGAGTGGATTCACACGCTCATCCCGGCCCCGCGTGTCACCGC GAGTGGGTTCACAGCCTCATCCCGACCCCGCGTGTCACCGCGAGTGGACT CACACCCTCATCCCGACCCCACGTGTCACCGCGAGTGGACTCACACGCTC ATCCCGACCCCGCGTGTCACCGTGAGTGGACTCACACCCTCATCCCGACC CCGCGTGTCACCGCGAGTGGATTCACACACTCATCCCGACCCCGCGTGTC ACCGGGAGTGGGTTCACAGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp2 HG02976.hp2 others(3): Show HG02258.hp2 HG02922.hp2 HG02976.hp2 HG03516.hp1 NA18906.hp1 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0001c0011 others(2): Show a0001c0002 a0001c0003 a0001c0011 a0002c0001 a0004c0008	a0001c0002t0001 a0001c0003t0006 a0001c0003t0013 others(3): Show a0001c0002t0001 a0001c0003t0006 a0001c0003t0013 a0001c0011t0015 a0002c0001t0019 a0004c0008t0016	a0001c0002t0001g0015 a0001c0003t0006g0033 a0001c0003t0013g0007 others(3): Show a0001c0002t0001g0015 a0001c0003t0006g0033 a0001c0003t0013g0007 a0001c0011t0015g0002 a0002c0001t0019g0030 a0004c0008t0016g0029	6	40	0.1500	369	c.73+ others(388): Show c.73+127106_73+127107insACGTGTCACCGCGAGTGGGTTCACAC GCTCATCCCGACCCCGCGTGTCACCGCGAGTGGGTTCACAGCCTCATCCC GACCCCGCGTGTCACCGCGAGTGGATTCACACGCTCATCCCGGCCCCGCG TGTCACCGCGAGTGGGTTCACAGCCTCATCCCGACCCCGCGTGTCACCGC GAGTGGACTCACACCCTCATCCCGACCCCACGTGTCACCGCGAGTGGACT CACACGCTCATCCCGACCCCGCGTGTCACCGTGAGTGGACTCACACCCTC ATCCCGACCCCGCGTGTCACCGCGAGTGGATTCACACACTCATCCCGACC CCGCGTGTCACCGGGAGTGGGTTCACAGCCTCATCCCGACCCC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1035058	G G	GCTCATCC others(362): Show GCTCATCCCGACCCCACGTGTCACCGCGAGTGGGTTCACACGCTCATCCC GACCCCGCGTGTCACCGCGAGTGGGTTCACAGCCTCATCCCGACCCCGCG TGTCACCGCGAGTGGATTCACACGCTCATCCCGGCCCCGCGTGTCACCGC GAGTGGGTTCACAGCCTCATCCCGACCCCGCGTGTCACCGCGAGTGGACT CACACCCTCATCCCGACCCCACGTGTCACCGCGAGTGGACTCACATGCTC ATCCCGACCCCGCGTGTCACCGTGAGTGGACTCACACCCTCATCCCGACC CCGCGTGTCACCGCGAGTGGATTCACACACTCATCCCGACCCCGCGTGTC ACCGGGAGTGGGTTCACAGC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0018 a0002c0004t0018	a0002c0004t0018g0010 a0002c0004t0018g0010	1	40	0.0250	369	c.73+ others(388): Show c.73+127106_73+127107insACGTGTCACCGCGAGTGGGTTCACAC GCTCATCCCGACCCCGCGTGTCACCGCGAGTGGGTTCACAGCCTCATCCC GACCCCGCGTGTCACCGCGAGTGGATTCACACGCTCATCCCGGCCCCGCG TGTCACCGCGAGTGGGTTCACAGCCTCATCCCGACCCCGCGTGTCACCGC GAGTGGACTCACACCCTCATCCCGACCCCACGTGTCACCGCGAGTGGACT CACATGCTCATCCCGACCCCGCGTGTCACCGTGAGTGGACTCACACCCTC ATCCCGACCCCGCGTGTCACCGCGAGTGGATTCACACACTCATCCCGACC CCGCGTGTCACCGGGAGTGGGTTCACAGCCTCATCCCGACCCC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1508391	C C	CCCCTTAC others(362): Show CCCCTTACCACCCCCCGCAAACCCCCGCAAACCCCCGCCACCCCCTGCAA ACGCCCACCACCCCCCACCCCCCCCACCCCTCACCACCCCCTGCAAACCC CCCCCCGCAAACCCCCGCCACCCTCTGCAAACCCCCGCCACCCCCTGCAA ACGCCCACCACCCCCCACCCCTCACCACCCCCTGCAAACCCCCGCCACCC CCTGCAAACGCCCACCACCCCCCACCCCTCACCACCCCCTGCAAACCCCC GCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCAGCCCCTGCA AACCCCCACCCCTCCCACAAACCCCCGCCACCCCCTGCAAACCCCCGCCA CCCCCTGCAAACGCCCACCA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	40	0.0250	369	c.172 others(386): Show c.172+6963_172+6964insTTACCACCCCCCGCAAACCCCCGCAAAC CCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCCCCCACCCCTC ACCACCCCCTGCAAACCCCCCCCCGCAAACCCCCGCCACCCTCTGCAAAC CCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACCCCC TGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCAC CACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCAC CCCTCACCAGCCCCTGCAAACCCCCACCCCTCCCACAAACCCCCGCCACC CCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1710711	C C	CAGCACCA others(362): Show CAGCACCACTGGTTACCTAGCTATAATGAACACCTAACACCCTACTTCAT CCAACTACAGTGGAACACACATGCTTCCCAAGCTATACTCTGGGCTACGA AACACACCTTAAAAATGTAAAAGAAGCACCACTGGTTACCTAGCTATAAT GCACACCTAACACCCTACTTCGTCCAACTGCAGCAGAACACACATGCTTC CCAAGCTACACTCTGGGCTATGAAACACACTTTAAAAATGTAAAAGAAGC ACCACTGGTTACCTAGCTATAATGAACACCTAACACCCTACTTCATCCAA CTACAGCAGAACACACATGCTTCCCAAGCTACACTCTGGGCTATGAAACA CACTTTAAAAATGTAAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02818.hp1 HG01361.hp2 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0027 a0001c0002t0023 a0001c0002t0027	a0001c0002t0023g0005 a0001c0002t0027g0023 a0001c0002t0023g0005 a0001c0002t0027g0023	2	40	0.0500	369	c.93 others(380): Show c.9305_*9306insAGCACCACTGGTTACCTAGCTATAATGAACACCT AACACCCTACTTCATCCAACTACAGTGGAACACACATGCTTCCCAAGCTA TACTCTGGGCTACGAAACACACCTTAAAAATGTAAAAGAAGCACCACTGG TTACCTAGCTATAATGCACACCTAACACCCTACTTCGTCCAACTGCAGCA GAACACACATGCTTCCCAAGCTACACTCTGGGCTATGAAACACACTTTAA AAATGTAAAAGAAGCACCACTGGTTACCTAGCTATAATGAACACCTAACA CCCTACTTCATCCAACTACAGCAGAACACACATGCTTCCCAAGCTACACT CTGGGCTATGAAACACACTTTAAAAATGTAAAAGA		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding					2236		chr8	TogoVar
DOCK3_chr3_50669927_51389198	50841728	T T	TTATTGTT others(362): Show TTATTGTTACCTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA19081.hp1 NA18993.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0167 a0001c0001t0001g0042 a0001c0001t0001g0167	2	212	0.0094	369	c.162 others(382): Show c.162+29_162+30insTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTATTGTTACCTTTTCT		DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52					INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK8_chr9_209865_470255	400154	C C	CCACCACC others(362): Show CCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCAT CACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCA CCACCTCCACCACCACCACCATCACCTCCACCATCACCACCACCTCCACC ATCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCAC CTCCTTCACCATCACCATCACCATCACCACCACCTCCACCATCACCACCA CCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACC ATCACCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0077 a0002c0077	a0002c0077t0003 a0002c0077t0003	a0002c0077t0003g0018 a0002c0077t0003g0018	1	256	0.0039	369	c.323 others(386): Show c.3234+902_3234+903insTCCACCATCACCACCACCACCTCCACCA TCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCTCC TTCACCATCACCATCACCATCACCACCACCTCCACCATCACCACCACCAC CTCCACCATCACCACCACCTCCACCACCACCACCATCACCTCCACCATCA CCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCACC TCCACCATCACCACCTCCTTCACCATCACCATCACCATCACCACCACCTC CACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCA CCACCACCTCCACCATCACCACCACCTCCACCATCACCACC		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCACCA others(362): Show CACCACCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCT CCACCACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACC ACCTCCTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCAC CACCATCTTCACCATCACCACCACCACCTCCATCACCACCACCACCACCA CCACCACCACTTCCACCATCACCACCTCCTTCACCATCACCACCACCACC ACCACCACCACCACCTCCACCACCACCGTCACCACCTTCTCCACCACCAC CATCTTCACCATCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCA CCTTTCCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0053 a0053	a0053c0082 a0053c0082	a0053c0082t0001 a0053c0082t0001	a0053c0082t0001g0228 a0053c0082t0001g0228	1	256	0.0039	369	c.323 others(388): Show c.3234+1717_3234+1718insCCACCACCTCCTCCACCATCACCACC AGCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATCACCAC CTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCACCTCCA CCACCACCTCCTCCACTACCACCACCATCTTCACCATCACCACCACCACC TCCATCACCACCACCACCACCACCACCACCACTTCCACCATCACCACCTC CTTCACCATCACCACCACCACCACCACCACCACCACCTCCACCACCACCG TCACCACCTTCTCCACCACCACCATCTTCACCATCACCACCATCGCCCTG CCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATA		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(362): Show ATATATACTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATACTATATATATAGTATA TATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATA GTATATATATAGTATATATATAGTATATATATAGTATATATATAGTATAT ATATAGTATATATATATAGTATATATATAGTATATATATAGTATATATAT ATAGTATATATATAGTATATATATATAGTGTATATATATAGTATATATAT ATAGTGTATATATATAGTATATATATAGTATATATATAGTATATATAGTA TATATGTATATATATATAGT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	316	0.0032	369	c.355 others(388): Show c.355-25704_355-25703insTATATACTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTAT ATATATACTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTATA TATATAGTATATATATAGTATATATATAGTATATATATATAGTATATATA TAGTATATATATAGTATATATATATAGTATATATATAGTATATATATATA GTGTATATATATAGTATATATATATAGTGTATATATATAGTATATATATA GTATATATATAGTATATATAGTATATATGTATATATATATAGT		DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13						chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(362): Show ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATATAGTATATATATAGTATATATATAG TATATATATATAGTATATATATAGTATATATATATAGTGTATATATATAG TATATATATATAGTGTATATATATAGTATATATATAGTATATATATAGTA TATATAGTATATATGTATATATATATAGTATATATATAGTATATATATAT AGTATATATATATAGTATATATATAGTATATATATATAGTATATATATAG TATATATATAGTATATATATATAGTATATATATAGTATATATATAGTATA TATATATAGTATATATATAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0150	1	316	0.0032	369	c.355 others(388): Show c.355-25607_355-25606insGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATATAGTATATAT ATAGTATATATATAGTATATATATATAGTATATATATAGTATATATATAT AGTGTATATATATAGTATATATATATAGTGTATATATATAGTATATATAT AGTATATATATAGTATATATAGTATATATGTATATATATATAGTATATAT ATAGTATATATATATAGTATATATATATAGTATATATATAGTATATATAT ATAGTATATATATAGTATATATATAGTATATATATATAGTATATATATAG TATATATATAGTATATATATATAGTATATATATAGTATATATA		DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
ELOVL6_chr4_110040846_110203615	110084414	C C	CATGATAT others(362): Show CATGATATATGACATATGACATACATGATATATCACATATATCATATATG ATATATCACATATATCATATATGATATATCACATATCATATATGATATAT CACATATATCATATATATCACATATATCATATATATCACATATATCATAT ATATCACATATATCATATATATCACATATATCATATATGATATATCACAT ATATCATATATGATATATCACATATATCATATATGATATATCACATATAT CATATATGATATATCACATATATCATATATGATATATCACATATATCATA TATGATATATCACATATATCATATATGATATATCACATATATCATATATG ATATATCACATATATCATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19066.hp2 NA18951.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0258 a0001c0001t0004g0176 a0001c0001t0004g0258	2	338	0.0059	369	c.221 others(388): Show c.221+21082_221+21083insATATGATATATGTGATATATCATATA TGATATATGTGATATATCATATATGATATATGTGATATATCATATATGAT ATATGTGATATATCATATATGATATATGTGATATATCATATATGATATAT GTGATATATCATATATGATATATGTGATATATCATATATGATATATGTGA TATATCATATATGATATATGTGATATATATGATATATGTGATATATATGA TATATGTGATATATATGATATATGTGATATATATGATATATGTGATATAT CATATATGATATGTGATATATCATATATGATATATGTGATATATCATATA TGATATATGTGATATATCATGTATGTCATATGTCATATATCAT		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3						chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084414	C C	CATGATAT others(362): Show CATGATATATGACATATGACATACATGATATATCACATATATCATATATG ATATATCACATATATCATATATGATATATCACATATCATATATGATATAT CACATATATCATATATGATATATCACATATATCATATATGATATATCACA TATATCATATATGATATATCACATATATCATATATATCACATATATCATA TATATCACACATATCATATATATCACATATATCATATATATCACATATAT CATATATGATATATCACATATATCATATATGATATATCACATATATCATA TATGATATATCACATATATCATATATGATATATCACATATATCATATATG ATATATCACATATATCATAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	338	0.0030	369	c.221 others(388): Show c.221+21082_221+21083insATATGATATATGTGATATATCATATA TGATATATGTGATATATCATATATGATATATGTGATATATCATATATGAT ATATGTGATATATCATATATGATATATGTGATATATCATATATGATATAT GTGATATATATGATATATGTGATATATATGATATGTGTGATATATATGAT ATATGTGATATATATGATATATGTGATATATCATATATGATATATGTGAT ATATCATATATGATATATGTGATATATCATATATGATATATGTGATATAT CATATATGATATGTGATATATCATATATGATATATGTGATATATCATATA TGATATATGTGATATATCATGTATGTCATATGTCATATATCAT		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3						chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084414	C C	CATGATAT others(362): Show CATGATATATGACATATGACATACATGATATATCACATATATCATATATG ATATATCACATATATCATATATGATATATCACATATCATATATGATATAT CACATATATCATATATGATATATCACATATATCATATATGATATATCACA TATATCATATATGATATATCACATATATCATATATATCACATATATCATA TATATCACATATATCATATATATCACATATATCATATATATCACATATAT CATATATGATATATCACATATATCATATATGATATATCACATATATCATA TATGATATATCACATATATCATATATGATATATCACATATATCATATATG ATATATCACATATATCATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18966.hp1 NA19011.hp2 NA18964.hp1 NA18966.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0246 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0246	3	338	0.0089	369	c.221 others(388): Show c.221+21082_221+21083insATATGATATATGTGATATATCATATA TGATATATGTGATATATCATATATGATATATGTGATATATCATATATGAT ATATGTGATATATCATATATGATATATGTGATATATCATATATGATATAT GTGATATATATGATATATGTGATATATATGATATATGTGATATATATGAT ATATGTGATATATATGATATATGTGATATATCATATATGATATATGTGAT ATATCATATATGATATATGTGATATATCATATATGATATATGTGATATAT CATATATGATATGTGATATATCATATATGATATATGTGATATATCATATA TGATATATGTGATATATCATGTATGTCATATGTCATATATCAT		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3						chr4	TogoVar
EML1_chr14_99788413_99947060	99927901	T T	TGGTGGTA others(362): Show TGGTGGTATTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGAG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGT GGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGGGGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0111 a0001c0003t0001g0111	1	288	0.0035	369	c.190 others(388): Show c.1909+7030_1909+7031insATTGGTGGTGGTGGTGATGGTGGTGA TGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGAT GGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGGGGTGGGGGTGGGGGTGGT		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928008	G G	GTGATGGT others(362): Show GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGT GATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0019 a0003c0002t0001g0019	1	288	0.0035	369	c.190 others(388): Show c.1909+7133_1909+7134insATGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGAT GGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928009	T T	TGGTGGAG others(362): Show TGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGAGGTGGT GGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTG GTGGTGGTGGAGGTGGTGGA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0278 a0002c0001t0002g0278	1	288	0.0035	369	c.190 others(388): Show c.1909+7137_1909+7138insAGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGT GGAGGTGGTGGAGGTGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGGTG GAGGTGGTGGAGGTGGTGGTGGTGGTGGAGGTGGTGGAGGTGG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
FAM234A_chr16_229821_271096	267540	C C	CATGCATG others(362): Show CATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCACAC GTGCTATGCATACACACCACACGTGTGCCTCACAGTGCTACACATGCCTC ATACACATGACACGTGCACACACCACATATGCATGCCTCAGTACACCTGC ACACGTGCACTAAACACAATCACACATGCTATGCGTACACACCACACGTG TGCCTCACAGTGCTACACATGCATCCTACACGACACGTGCACACACACCA CACATGCATGCCTCACAGTACACCTGCACACGTGCACTACAATCACACAT GCTATGTGTACACACCACACGTGTGCCTCAGTGCTACACATGCCTCATAC GACACGTGCACACACCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG03471.hp2 NA19043.hp2 others(1): Show HG02055.hp2 HG03471.hp2 NA19043.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0001c0001t0013 a0004c0007t0001 a0001c0001t0002 a0001c0001t0013 a0004c0007t0001	a0001c0001t0002g0126 a0001c0001t0002g0249 a0001c0001t0013g0035 others(1): Show a0001c0001t0002g0126 a0001c0001t0002g0249 a0001c0001t0013g0035 a0004c0007t0001g0049	4	408	0.0098	369	c.25 others(380): Show c.2518_*2519insATGCATGCCTCACAGTACACCTGCACACGTGCAC TACACACAATCACACGTGCTATGCATACACACCACACGTGTGCCTCACAG TGCTACACATGCCTCATACACATGACACGTGCACACACCACATATGCATG CCTCAGTACACCTGCACACGTGCACTAAACACAATCACACATGCTATGCG TACACACCACACGTGTGCCTCACAGTGCTACACATGCATCCTACACGACA CGTGCACACACACCACACATGCATGCCTCACAGTACACCTGCACACGTGC ACTACAATCACACATGCTATGTGTACACACCACACGTGTGCCTCAGTGCT ACACATGCCTCATACGACACGTGCACACACCACAT		FAM234A	ENSG00000167930.17	transcript	ENST00000399932.8	protein_coding					1445		chr16	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(362): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACACATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCA CCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCC TCCCGCCTCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGCCC CCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCC CAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCAGCCT ACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCC GCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0014 a0013c0025t0014	a0013c0025t0014g0000 a0013c0025t0014g0000	1	406	0.0025	369	c.33 others(380): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACACATCCCTCCTCCCGCCCCCCTCCAGCCTAC CCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCC CCCACCCACCTCTCCTCCCGCCTCCCCCCAGCCTACCCCCTCCCCCGCCC ACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTC CTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCC CGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAG CCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(362): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCCCAGCCTACCCCTCCCCCCGCCCAC CCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCT CCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGCCC CCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCC CAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCAGCCT ACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCC GCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0000 a0002c0004t0001g0000	1	406	0.0025	369	c.33 others(380): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCCAGCCTACC CCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCC ACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTC CTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCC CGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAG CCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
GALR1_chr18_77244848_77282900	77253016	C C	CCATCACC others(362): Show CCATCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCAC CATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCATCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0075 a0002c0003t0075	a0002c0003t0075g0127 a0002c0003t0075g0127	1	366	0.0027	369	c.666 others(386): Show c.666+1804_666+1805insTCACCACCACCACCACCATCACCACCAT CACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCA CCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACC ACCACCACCACCACCATCACCACCACCACCACCATCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACCACCACCATCACCATCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCATCACCACCATCACCACCACCACCACCACCACCATCA		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GEMIN7_chr19_45074260_45096518	45092813	T T	TTCCCTGG others(362): Show TTCCCTGGGCTCTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTT TTTTTTTTGTTTTTTTTTTTTGTTTTGTTTTGTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCAAGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	420	0.0024	369	c.23 others(380): Show c.2303_*2304insTCCCTGGGCTCTTTTTTTTTTTTTTTTTTTTTTT TAATTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTGTTTTGTTTTGTTT TTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAA TCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCAAGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC		GEMIN7	ENSG00000142252.11	transcript	ENST00000270257.9	protein_coding					1296		chr19	TogoVar
GEMIN7_chr19_45074260_45096518	45092813	T T	TTCCCTGG others(362): Show TTCCCTGGGCTCTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTT TTTTTTTTGTTTTTTTTTTTTGTTTTGTTTTGTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCAAGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG02717.hp2 HG01261.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0192 a0001c0001t0001g0194	2	420	0.0048	369	c.23 others(380): Show c.2303_*2304insTCCCTGGGCTCTTTTTTTTTTTTTTTTTTTTTTT TTAATTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTGTTTTGTTTTGTTT TTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAA TCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCAAGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC		GEMIN7	ENSG00000142252.11	transcript	ENST00000270257.9	protein_coding					1296		chr19	TogoVar
GNG4_chr1_235542685_235654784	235587634	A A	ATGTGTGT others(362): Show ATGTGTGTGTGAGAGTATGGGTGTGTGTGGGTGTGTGTCTGGGTGTGGGG TAGGGGTGAGGGCGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGTGAGTGT GGGAGGGTGTGGGGTGGGGGTGAGCATGAGTGTGGGAGGGTGTGGGGGTG TGAGTGTGGGAGGGTGTGGGGTGGGGTGAGAGCATGGGAGGGTGTGGGGT GGGGGTGAGTGTGACTGTGGGAGAGTGTGGGGTGGGGGTGAATGTGAGTG TGGGAGGGTGTGGGGTGGGGGTGTGAGTGTGGGAGGGTGTGGGGTGGGGT GTGTGAATGTGTGGGGTGGATGTGTGTGTGAGCGTGGGTTTGTGGGTGTG TGTCAGGGTGTGTGGTGTGG	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0237 a0001c0001t0066g0237	1	330	0.0030	369	c.-10 others(386): Show c.-10-3787_-10-3786insCCACACCACACACCCTGACACACACCCA CAAACCCACGCTCACACACACATCCACCCCACACATTCACACACCCCACC CCACACCCTCCCACACTCACACCCCCACCCCACACCCTCCCACACTCACA TTCACCCCCACCCCACACTCTCCCACAGTCACACTCACCCCCACCCCACA CCCTCCCATGCTCTCACCCCACCCCACACCCTCCCACACTCACACCCCCA CACCCTCCCACACTCATGCTCACCCCCACCCCACACCCTCCCACACTCAC ACCCCCACCCCACACCCTCCCACACTCACGCCCTCACCCCTACCCCACAC CCAGACACACACCCACACACACCCATACTCTCACACACACA		GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	2/3						chr1	TogoVar
GOLGA6L22_chr15_22453903_22474226	22465850	G G	GGAGAAGG others(362): Show GGAGAAGGTGTGGAGGCAGGAGGAGAAGATACGGGAGCAGGAGGAAAAGA GGCAGGAGCAGGAGGAGAAGATGTGGAAGCAGGAGGAGAAGATAAGGGAG CAGGAGGAGAAGATACGGGAGCAGGAGGAGAAGATGCGGAGGCAGGAGGA GATGATGTGGGAGAAGGAGGAGAAGATGCGGAGGCAGGAGGAGATGATGT GGGAGAAGGAGGAGAAGATACGGGAGCTGGAAGAGAAGATGCACGAGCAG GAGAAGATACGGGAGCAGGAAGAGAAGAGGCAGGAGGAGGAGAAGATACG CGAGCAGGAGAAGAGGCAGGAGCAGGAGGCGAAGATGTGGAGGCAGGAGG AGAAGATACGGGAGCAGGAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02040.hp2 HG02040.hp2	a0027 a0027	a0027c0053 a0027c0053	a0027c0053t0005 a0027c0053t0005	a0027c0053t0005g0059 a0027c0053t0005g0059	1	226	0.0044	369	c.159 others(378): Show c.1596_1597insGTGTGGAGGCAGGAGGAGAAGATACGGGAGCAGGAG GAAAAGAGGCAGGAGCAGGAGGAGAAGATGTGGAAGCAGGAGGAGAAGAT AAGGGAGCAGGAGGAGAAGATACGGGAGCAGGAGGAGAAGATGCGGAGGC AGGAGGAGATGATGTGGGAGAAGGAGGAGAAGATGCGGAGGCAGGAGGAG ATGATGTGGGAGAAGGAGGAGAAGATACGGGAGCTGGAAGAGAAGATGCA CGAGCAGGAGAAGATACGGGAGCAGGAAGAGAAGAGGCAGGAGGAGGAGA AGATACGCGAGCAGGAGAAGAGGCAGGAGCAGGAGGCGAAGATGTGGAGG CAGGAGGAGAAGATACGGGAGCAGGAAGAGAAG	p.Lys others(382): Show p.Lys532_Ile533insValTrpArgGlnGluGluLysIleArgGluGl nGluGluLysArgGlnGluGlnGluGluLysMetTrpLysGlnGluGluL ysIleArgGluGlnGluGluLysIleArgGluGlnGluGluLysMetArg ArgGlnGluGluMetMetTrpGluLysGluGluLysMetArgArgGlnGl uGluMetMetTrpGluLysGluGluLysIleArgGluLeuGluGluLysM etHisGluGlnGluLysIleArgGluGlnGluGluLysArgGlnGluGlu GluLysIleArgGluGlnGluLysArgGlnGluGlnGluAlaLysMetTr pArgGlnGluGluLysIleArgGluGlnGluGluLys	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	1688/4401	1597/2565	533/854		INFO_REALIGN_3_PRIME	chr15	TogoVar
GPIHBP1_chr8_143208218_143222170	143218047	A A	ACACCACC others(362): Show ACACCACCCAACACCGCCCCCACACCACCCACCACCACCCACCACAAGCC CCAACACCACCCACACACCACCCCCCACACCACCCCCAACACCACCCCAA CACCACCCCCAACACCACCCAACACCACCCACCACCACCCACCACCACCC ACCACAAGGCCCAACACCACCCACAACTCCACCCCCCACACCACCCCCCA CACCACCCCCCACACCATCCCCAACACCACCCCAACACCACCCCCAACAC CACCCCAACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACC CCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAA CACCACCCAACACCACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG03225.hp2 NA19240.hp1 HG02809.hp2 HG03225.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	3	106	0.0283	369	c.25 others(380): Show c.2529_*2530insCACCACCCAACACCGCCCCCACACCACCCACCAC CACCCACCACAAGCCCCAACACCACCCACACACCACCCCCCACACCACCC CCAACACCACCCCAACACCACCCCCAACACCACCCAACACCACCCACCAC CACCCACCACCACCCACCACAAGGCCCAACACCACCCACAACTCCACCCC CCACACCACCCCCCACACCACCCCCCACACCATCCCCAACACCACCCCAA CACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCCCAACACC ACCCCCAACACCACCCCAACACCACCCCAACACCACCCCCAACACCACCC CAACACCACCCCCAACACCACCCAACACCACCCAC		GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding					878		chr8	TogoVar
GRAMD4_chr22_46615386_46684785	46635361	A A	AGGCCGTA others(362): Show AGGCCGTATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGC CCTATCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCCTA TCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCTT CCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGAGGCTGTATCCTCCCT GCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCC CCGACCCCGGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCGC CCCCGGCCACTCCTGTCCTGGGAGGCCGTATCCTCCCTGCCCCCGCCCCC GGCCACTCCTGTCCTGGGAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	328	0.0031	369	c.163 others(386): Show c.163-2478_163-2477insGCCGTATCCTCCCTGCCCCCACCCCTGG CCACTCCTGTCCTGGGAGGCCCTATCCTCCCTGCCCCCGCCCCCGGCCAC TCCTGTCCTGGGAGGCCCTATCCTCCCTGCCCCCGCCCCCGGCCACTCCT GTCCTGGGAGGCCGTGTCTTCCCTGCCCCCGACCCCGGCCACTCCTGTCC TGGGAGGCTGTATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGG GAACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGGAC CGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTA TCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGG		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635429	G G	GACCCCGG others(362): Show GACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTGCCTGTCCCCGCCC CCGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCTGG CCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCGCCCCTGGCCAC TCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCT GTCCTGGGAGGCCGTATCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCC TGGGAGGCCGTGTCCTCCCTGCCCCCGCCCCTGGCCACTCCTGTCCTGGG GAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGAGGG CCGTATCCTCCCTGCCCCCA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0195 a0001c0001t0006g0195	1	328	0.0031	369	c.163 others(386): Show c.163-2411_163-2410insACCCCGGCCACTCCTGTCCTGGGGAACC GTGTCCTGCCTGTCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTGT CCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCCTC CCTGCCCCCGCCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTG CCTCCACCCCTGGCCACTCCTGTCCTGGGAGGCCGTATCCTCCCTGCCCC CGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCGCC CCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTG GCCACTCCTGTCCTGGGAGGGCCGTATCCTCCCTGCCCCCA		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18						chr22	TogoVar
GRIN2A_chr16_9748408_10187428	9848712	A A	ATATTTAA others(362): Show ATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAAT ACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTA AATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGT TTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATAT AAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATAT ATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATAC ACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAA TATATAAAATACACTGTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02572.hp2 others(1): Show HG02257.hp2 HG02258.hp2 HG02572.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0056 a0001c0001t0002 a0001c0001t0008 a0001c0001t0056	a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0008g0122 others(1): Show a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0008g0122 a0001c0001t0056g0126	4	168	0.0238	369	c.132 others(388): Show c.1328+1043_1328+1044insAAAACAGTGTATTTTATATATTTAAA TATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTT TATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAA AACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATAT TTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTG TATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATA TATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTA TATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATA		GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12						chr16	TogoVar
GSE1_chr16_85608322_85681200	85653187	G G	GCCCCCCT others(362): Show GCCCCCCTCCGCCCCCCTCCTCCTCCCCCCCCTCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCCC TCCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTC CCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCC CCCTCCTCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	290	0.0035	369	c.427 others(386): Show c.427-1082_427-1081insGCCCCCCTCCTCCTCCCCCCCCTCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC CCTCCCCCCCCCTCCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCT CCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCC TCCCCCCTCCTCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCC CCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCC		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
HECTD4_chr12_112155195_112387431	112339310	C C	CAAGAAAA others(362): Show CAAGAAAATGCAAGTCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG AAAAAAAAGAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	270	0.0037	369	c.178 others(388): Show c.178-19569_178-19568insTTTTTTTTTTTCTTTTTTTTCTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCGTGACTTGCATTTTCTT		HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75						chr12	TogoVar
HSD17B14_chr19_48808018_48841491	48835044	G G	GGCCTGGA others(362): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGGGGGCTTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGT CTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGAAGGAG GGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCT GGACTCCTGGCTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTC TGAGGGAGGAAGGGCTGGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG03041.hp2 HG02109.hp1 HG02647.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0376 a0002c0002t0001g0377 a0002c0002t0001g0378 a0002c0002t0001g0376 a0002c0002t0001g0377 a0002c0002t0001g0378	3	394	0.0076	369	c.128 others(384): Show c.128-687_128-686insTCCCAGCCCTTCCTCCCTCAGACCCAGGAG TCCAGGCCCCCAGGCCCTACTTCCTCGGAGCCAGGAGTCCAGGCTCCCAG CCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTTCCTC AGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTC CAGGCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGACCTCAGCCC CTCCTCCCTCAGACCCAGGAGTCCAAGCCCCCAGCCCCTCCTCCCTCAGA CCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG GCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGC		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
INF2_chr14_104684618_104727535	104720785	C C	CGTCCTCG others(362): Show CGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCTCGTGTGGATG CTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCT GCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGT GGATGCTGCTGTGGACGTCTGCGTCGTCCTCCTGTGGATGCTGCTGTGGA CGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTGTGGAT GCTGCTGTGGACGTCTGCGTAGTCTCGTGTGGATGCTGCTGTGGACGTCT GCGTCATCCTCGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATG CTGCTATGGACGTCTGCGTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0080 a0001c0004t0080	a0001c0004t0080g0021 a0001c0004t0080g0021	1	380	0.0026	369	c.19 others(380): Show c.1995_*1996insCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGT CTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTG CTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCG TCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCCTGTGGA TGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGT CTGCGTGTGGATGCTGCTGTGGACGTCTGCGTAGTCTCGTGTGGATGCTG CTGTGGACGTCTGCGTCATCCTCGATGCTGCTGTGGACGTCTGCGTCGTC CTCGTGTGGATGCTGCTATGGACGTCTGCGTAGTC		INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	23/23				5450	INFO_REALIGN_3_PRIME	chr14	TogoVar
INSIG2_chr2_118083471_118115997	118094233	A A	AGATGATG others(362): Show AGATGATGATGATGATGATGATGATGATGATGATGATGAAGGAGAGTTCT GTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGATGATGATGAAGG AGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGATGAT GATGATGATGATGATGATGATGATGGAGAGTTCTGTAGCTACTGAACCTT GCTGAAAGCAACCAGATGATGATGATGAGGAGGAGGAGGAGGAGGAGGAG GAGAGTTCTGTAGCTACTGAACCTTGCTAAAAGCAACCAGATGATGATGA TGATGAGGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAA AGCAACCAGATGATGATGAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02886.hp2 others(4): Show HG02451.hp1 HG02486.hp2 HG02886.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0046 a0001c0001t0004g0169 a0001c0001t0004g0185 others(4): Show a0001c0001t0004g0046 a0001c0001t0004g0169 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0006g0046	7	440	0.0159	369	c.-13 others(388): Show c.-138-2151_-138-2150insTGAAGGAGAGTTCTGTAGCTACTGAA CCTTGCCAAAAGCAACCAGATGATGATGATGATGAAGGAGAGTTCTGTAG CTACTGAACCTTGCCAAAAGCAACCAGATGATGATGATGATGATGATGAT GATGATGATGATGGAGAGTTCTGTAGCTACTGAACCTTGCTGAAAGCAAC CAGATGATGATGATGAGGAGGAGGAGGAGGAGGAGGAGGAGAGTTCTGTA GCTACTGAACCTTGCTAAAAGCAACCAGATGATGATGATGATGAGGAGGA GGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATG ATGATGATGATGATGATGATGATGATGATGATGATGATGATGA		INSIG2	ENSG00000125629.16	transcript	ENST00000245787.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
INSIG2_chr2_118083471_118115997	118094233	A A	AGATGATG others(362): Show AGATGATGATGATGATGATGATGATGATGATGATGATGATGAAGGAGAGT TCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGATGATGATGA AGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGAT GATGATGATGATGATGATGATGATGATGATGGAGAGTTCTGTAGCTACTG AACCTTGCTGAAAGCAACCAGATGATGATGATGAGGAGGAGGAGGAGGAG GAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCTAAAAGCAACCAGATGA TGATGATGATGAGGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTT GCCAAAAGCAACCAGATGAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0051 a0001c0001t0008g0051	2	440	0.0046	369	c.-13 others(388): Show c.-138-2151_-138-2150insTGATGAAGGAGAGTTCTGTAGCTACT GAACCTTGCCAAAAGCAACCAGATGATGATGATGATGAAGGAGAGTTCTG TAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGATGATGATGATGAT GATGATGATGATGATGATGGAGAGTTCTGTAGCTACTGAACCTTGCTGAA AGCAACCAGATGATGATGATGAGGAGGAGGAGGAGGAGGAGGAGGAGAGT TCTGTAGCTACTGAACCTTGCTAAAAGCAACCAGATGATGATGATGATGA GGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAAC CAGATGATGATGATGATGATGATGATGATGATGATGATGATGA		INSIG2	ENSG00000125629.16	transcript	ENST00000245787.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr2	TogoVar

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