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
TTLL8_chr22_50013575_50063298	50057552	G G	GGGGGTCA others(280): Show GGGGGTCAGGTCTGGGTTGGGGGATCAGGTCTGGGTTGGGGTCAGGTCTG GGCTCAGGTCTGGGTTGGGGTCAGGTCTGGGCTTGGGGGTCAGGTCTGGG TTTGGGGGTCAGGACTGGGTTTGGTGTCAGGTCTGGGTTGTGAGTCAGGT CCTGGGTTGGGGGATCAGGTCCTGGGTTGGGGTCAGGTCTGGGGGTTGGG CGGGGAGGTCTGGGTTGGGGGTCAGGTCTGGGTTGTGAGTCAGGTCTGGG TTGGGGGTCAGGTCTGGGGTTGGGGTCAGGTCTGGGTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	221	0.0045	287	c.-38 others(302): Show c.-38-580_-38-579insAACCCAGACCTGACCCCAACCCCAGACCTG ACCCCCAACCCAGACCTGACTCACAACCCAGACCTGACCCCCAACCCAGA CCTCCCCGCCCAACCCCCAGACCTGACCCCAACCCAGGACCTGATCCCCC AACCCAGGACCTGACTCACAACCCAGACCTGACACCAAACCCAGTCCTGA CCCCCAAACCCAGACCTGACCCCCAAGCCCAGACCTGACCCCAACCCAGA CCTGAGCCCAGACCTGACCCCAACCCAGACCTGATCCCCCAACCCAGACC TGACCCC	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	1/13			chr22	TogoVar
TUBB3_chr16_89918342_89941097	89934127	C C	CGCCTGTG others(280): Show CGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCCTGTGT CCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCG GGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGG ATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGT TCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCC TGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCAA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	328	0.0030	287	c.278 others(302): Show c.278-562_278-561insCGCCTGTGTCCTGGGGCGGGGCCGTGGATG CCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCC CACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGT GTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGG CGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGT GGATGCCACGTTCCCAAGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCAC GTTCCCA	TUBB3	ENSG00000258947.8	transcript	ENST00000315491.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
TUBB3_chr16_89918342_89941097	89934127	C C	CGCCTGTG others(280): Show CGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGT CCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCG GGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGG ATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGT TCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGCC TGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00609.hp1 others(27): Show HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG01175.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02165.hp1 HG03491.hp2 HG03492.hp1 NA18612.hp1 NA18940.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18967.hp1 NA18982.hp1 NA18984.hp2 NA18990.hp1 NA18994.hp2 NA19003.hp1 NA19062.hp1 NA19070.hp1 NA19074.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0024 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0044 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0195 a0001c0001t0001g0196	30	357	0.0840	287	c.278 others(302): Show c.278-562_278-561insCGTCTGTGTCCTGGGGCGGGGCCGTGGATG CCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCC CACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGT GTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGG CGGGGCCGTGGATGCCACGTTCCCACGCCTGTGTCCTGGGGCGGGGCCGT GGATGCCACGTTCCCAAGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCAC GTTCCCA	TUBB3	ENSG00000258947.8	transcript	ENST00000315491.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(280): Show TATAATAATATAATATATAATTATATAATATTATATATAATAATATAATA TATATTATTATATAATATTATATATAATAATATAATATATATTATATTAT TATATATAATAATATAATATATATTATTATATATTATTATATATAATAAT ATAATATATATTATTATATATTATTATATATAATAATATAATATATATTA TAATATATAATAATATATATATATTATTATATATTATTATATATAATAAT ATAATATATATTATATATATTATTATATATTATTATAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0006 a0009c0008t0006	a0009c0008t0006g0191 a0009c0008t0006g0191	1	99	0.0101	287	c.392 others(304): Show c.392+6154_392+6155insTTATAATAATATATAATAATATATATAA TATATATTATATTATTATATATAATAATATATAATAATATATATATATTA TTATATATTATAATATATATTATATTATTATATATAATAATATATAATAA TATATATTATATTATTATATATAATAATATATAATAATATATATTATATT ATTATATATAATAATATAATATATATTATATTATTATATATAATATTATA TAATAATATATATTATATTATTATATATAATATTATATAATTATATATTA TATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
VCX2_chrX_8164944_8176267	8169521	C C	CCACCTCT others(280): Show CCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTC CCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCC CCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCT CTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCAC ACACCTCCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCC CTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0003 a0002c0001t0001g0003	1	113	0.0088	287	c.51 others(296): Show c.510_*511insTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGT G	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		422		chrX	TogoVar
VCX_chrX_7838171_7849143	7844213	A A	AGGGAGGG others(280): Show AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0020 a0020	a0020c0027 a0020c0027	a0020c0027t0001 a0020c0027t0001	a0020c0027t0001g0001 a0020c0027t0001g0001	1	294	0.0034	287	c.19 others(296): Show c.197_*198insGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGT G	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		71		chrX	TogoVar
VCX_chrX_7838171_7849143	7844254	A A	AGGGAGGA others(280): Show AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 NA18950.hp2 NA19081.hp2 HG00423.hp2 NA18950.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	259	0.0116	287	c.23 others(296): Show c.238_*239insGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGA AGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA G	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		112		chrX	TogoVar
VPS35_chr16_46651132_46694178	46675092	C C	CCTCAATT others(280): Show CCTCAATTCATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGGAATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00733.hp1 others(21): Show HG00099.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp2 HG01256.hp2 HG01515.hp1 HG01517.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG03130.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0001c0001t0015 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0019 a0002c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0019 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0015g0142 a0001c0001t0019g0139 a0002c0007t0001g0134	24	197	0.1218	287	c.915 others(302): Show c.915-433_915-432insTTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTCCGCCACTGCAGTCCGCAGTCTGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATG AATTGAG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding	8/16			chr16	TogoVar
VRK2_chr2_58041806_58164871	58137182	C C	CATATATA others(280): Show CATATATATCATATATATGATACATGTATCATATATGATACATGTATCAT ATATATGATACATGTATCATATATATGATACATATATATCATATATATGA TACATATATATCATATATATGATACATATATATCATATATATGATACATA TATATCATATATATGATACATATATATCATATATATGATACATATATATC ATATATATGATACATATATATCATATATATGATACATATATATCATATAT ATGATACATATATATCATATATGATACATATATATCAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	236	0.0042	287	c.856 others(304): Show c.856+1989_856+1990insATCATATATATGATACATGTATCATATA TGATACATGTATCATATATATGATACATGTATCATATATATGATACATAT ATATCATATATATGATACATATATATCATATATATGATACATATATATCA TATATATGATACATATATATCATATATATGATACATATATATCATATATA TGATACATATATATCATATATATGATACATATATATCATATATATGATAC ATATATATCATATATATGATACATATATATCATATATGATACATATATAT CATATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
XRCC2_chr7_152639776_152681141	152674704	T T	TAATATAT others(280): Show TAATATATATTTTAAAATATATTTATATATAATATATTTTTAAATATATA TTATATATATTTTAAAATATATTTATATATATTTTTAAATATATATTATA TATAATATATTTTTAAATATATATTATATATAATATATATTTTAAAATAT ATTATATAAATATATTTTAAAATATGTATTATATATATTTTTAAATATAT ATTATATATAAATATATTTTTAAATATATATTATATATAAATATATTTTT AAATATATATTATATATAAATATATTTTTAAATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0195 a0001c0001t0020g0195	1	341	0.0029	287	c.39+ others(302): Show c.39+1336_39+1337insTATATATTTAAAAATATATTTATATATAAT ATATATTTAAAAATATATTTATATATAATATATATTTAAAAATATATTTA TATATAATATATATTTAAAAATATATATAATACATATTTTAAAATATATT TATATAATATATTTTAAAATATATATTATATATAATATATATTTAAAAAT ATATTATATATAATATATATTTAAAAATATATATAAATATATTTTAAAAT ATATATAATATATATTTAAAAATATATTATATATAAATATATTTTAAAAT ATATATT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
ZNF112_chr19_44321555_44361680	44337362	T T	TTATATAT others(280): Show TTATATATATTTTATATATAAAATATATATTATATATATTTTATATATAA AATATATATTATATATATTTTATATATATAATATATATTATATATATTTT ATATATATAATATATATTATATATATTTTATATATATAATATATATTATA TATATTTTATATATATAATATATATTATATATATTTTATATATATAATAT ATATTATATATATTTTATATATATAATATATATTATATATATTTTATATA TATAATATATATTATATATATTTTATATATATAATATA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA20905.hp2 NA18974.hp1 NA20905.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0015 a0001c0001 a0011c0015	a0001c0001t0001 a0011c0015t0001 a0001c0001t0001 a0011c0015t0001	a0001c0001t0001g0003 a0011c0015t0001g0098 a0001c0001t0001g0003 a0011c0015t0001g0098	2	233	0.0086	287	c.125 others(302): Show c.125-645_125-644insTATATTATATATATAAAATATATATAATAT ATATTATATATATAAAATATATATAATATATATTATATATATAAAATATA TATAATATATATTATATATATAAAATATATATAATATATATTATATATAT AAAATATATATAATATATATTATATATATAAAATATATATAATATATATT ATATATATAAAATATATATAATATATATTATATATATAAAATATATATAA TATATATTTTATATATAAAATATATATAATATATATTTTATATATAAAAT ATATATA	ZNF112	ENSG00000062370.17	transcript	ENST00000354340.9	protein_coding	2/3			chr19	TogoVar
ZNF112_chr19_44321555_44361680	44337362	T T	TTATATAT others(280): Show TTATATATATTTTATATATAAAATATATATTATATATATTTTATATATAT AATATATATTATATATATTTTATATATATAATATATATTATATATATTTT ATATATATAATATATATTATATATATTTTATATATATAATATATATTATA TATATTTTATATATATAATATATATTATATATATTTTATATATATAATAT ATATTATATATATTTTATATATATAATATATATTATATATATTTTATATA TATAATATATATTATATATATTTTATATATATAATATA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	232	0.0043	287	c.125 others(302): Show c.125-645_125-644insTATATTATATATATAAAATATATATAATAT ATATTATATATATAAAATATATATAATATATATTATATATATAAAATATA TATAATATATATTATATATATAAAATATATATAATATATATTATATATAT AAAATATATATAATATATATTATATATATAAAATATATATAATATATATT ATATATATAAAATATATATAATATATATTATATATATAAAATATATATAA TATATATTATATATATAAAATATATATAATATATATTTTATATATAAAAT ATATATA	ZNF112	ENSG00000062370.17	transcript	ENST00000354340.9	protein_coding	2/3			chr19	TogoVar
ZNF554_chr19_2814868_2841735	2818063	A A	ACCAAGGA others(280): Show ACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGA GCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAA GGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGG ATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGT GACAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGA GCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02615.hp1 HG02895.hp2 HG02109.hp2 HG02615.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0053 a0001c0001t0003 a0001c0001t0053	a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0053g0057 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0053g0057	3	404	0.0074	287	c.-20 others(298): Show c.-2009_-2008insCCAAGGATGACTAAGGTCAGAGCAGGTGACAAGG GTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGT GACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAG AGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACT AAGGTCAGAGCAGGTGACAAGGATAACTAAGGTCAGAGCAGGTGACAAGG GTGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGT GAC	ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding		1804		chr19	TogoVar
ABR_chr17_998519_1184981	1117885	A A	ACCCTGAG others(281): Show ACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTTCC CAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAG TTCCTCCCAGCGTTATTGCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCT GAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCG TTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCT CCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	249	0.0040	288	c.246 others(305): Show c.246+7297_246+7298insATAACGCTGGGAGGACTCAGGCTCAGGG ATAACGCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGG CTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGG AACTCAGGCTCAGGGTTAACGCTGGGGAGAACTCAGGCTCAGGCAATAAC GCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTCAG GGATAACGCTGGGAAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTC AGGCTCAGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ACACB_chr12_109111587_109273226	109209936	C C	CACATATA others(281): Show CACATATATGTGTATATATGTGTACACACACACATATGTGTATACACACA CATATATGTGTATATATACACACATACATGCATGTGTGTATATATGTGTA TATATACACACATACGTATGTGTGTATATATGTGTATATATACACATACA TATGTGTGTATATATGTGTATATATGTATATATACATATATACACACGTG TATATATACGTATATACACACACGTGTATATATGTATATATACACATATA TGTGTATATACACACGTACATATGTGTATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0075 a0001c0003t0004g0075	1	215	0.0047	288	c.324 others(305): Show c.3249+584_3249+585insCATATATGTGTATATATGTGTACACACA CACATATGTGTATACACACACATATATGTGTATATATACACACATACATG CATGTGTGTATATATGTGTATATATACACACATACGTATGTGTGTATATA TGTGTATATATACACATACATATGTGTGTATATATGTGTATATATGTATA TATACATATATACACACGTGTATATATACGTATATACACACACGTGTATA TATGTATATATACACATATATGTGTATATACACACGTACATATGTGTATA TATGTGTATA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1288401	T T	TCCCCCGT others(281): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	262	0.0038	288	c.51 others(299): Show c.5162_*5163insGGACGGAGCAGAGACACGGGGGACGGAGCAGAGA CACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGA CACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGGGACGGAG CAGAGACACGGGGGACGGAGCAGGGACACGGGGGACGGAGCAGAGACACG GGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3989		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289263	C C	CCGTGTCC others(281): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	260	0.0038	288	c.43 others(299): Show c.4300_*4301insACGGAGCAGGGACACGGGACGGAGCAGGGACACG GGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCA GAGACACGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGAC GGAGCAGGGACACGGGACGGGGCAGAGACACGGGACGGAGCAGGGACACG GGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGGGA CACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3127		chr1	TogoVar
ACE_chr17_63472061_63503373	63488529	T T	TATACAGT others(281): Show TATACAGTCACTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0104 a0001c0008t0001g0104	1	176	0.0057	288	c.230 others(305): Show c.2306-105_2306-104insTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATAC AGTCACTTTT	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAG others(281): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0014 a0014	a0014c0082 a0014c0082	a0014c0082t0007 a0014c0082t0007	a0014c0082t0007g0096 a0014c0082t0007g0096	1	236	0.0042	288	c.523 others(307): Show c.523-13463_523-13462insAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS19_chr5_129455298_129743683	129578103	C C	CATATGCA others(281): Show CATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATA TGTACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTA CATATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATG CATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGTACG TATACGTACATATACCTATATGCATGTATATGTACGTATACGTACATATA CCTATATGCATGTATATGTACGTATACGTACATATACCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02258.hp2 HG02602.hp2 others(1): Show HG00558.hp2 HG02258.hp2 HG02602.hp2 HG03491.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0113 a0001c0001t0001g0149 a0001c0001t0001g0168 others(1): Show a0001c0001t0001g0113 a0001c0001t0001g0149 a0001c0001t0001g0168 a0003c0005t0001g0145	4	60	0.0667	288	c.137 others(309): Show c.1373-18405_1373-18118dupGTACGTATACGTACATATACCTAT ATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGT ACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTACAT ATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATGCAT GTATATGTACGTATACGTACATATACCTATATGCATGTATATGTACGTAT ACGTACATATACCTATATGCATGTATATGTACGTATACGTACATATACCT ATATGCATGTATAT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADARB2_chr10_1172313_1742525	1209423	A A	ACCCATGC others(281): Show ACCCATGCCCACACCTACAGCCTGGCCCACACCCACACCATCACCCACAC CCATGCCCATGCCTACACTGTCGCCCATGCCCACACCTACAGCCTGGCCC ACACCCACACCATCACCCACACCCATGCCCATGCCTACACTGTCGCCCAT GCCCACACCTACAGCCTGGCCCACACCCACACCATCACCCACACCCATGC CCATGCCTACACTGTCGCCCATGCCCACACCTACAGCCTGGCCCACACCC ACACCATCACCCACACCCATGCCCGTGCCTACACTGTCG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp2 HG01934.hp1 others(20): Show HG01243.hp1 HG01433.hp2 HG01934.hp1 HG02040.hp2 HG02602.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02970.hp2 HG03041.hp1 HG04184.hp1 NA18522.hp2 NA18945.hp2 NA18982.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18998.hp2 NA19086.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 others(13): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 a0001c0001t0035 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0003t0009 a0001c0003t0032 a0001c0003t0039 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0062	a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0097 others(20): Show a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0102 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0011g0017 a0001c0001t0011g0026 a0001c0001t0018g0027 a0001c0001t0035g0079 a0001c0001t0056g0081 a0001c0001t0057g0103 a0001c0001t0058g0099 a0001c0001t0059g0092 a0001c0003t0009g0046 a0001c0003t0032g0071 a0001c0003t0039g0044 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0004g0101 a0002c0002t0006g0018 a0002c0002t0062g0093	23	104	0.2212	288	c.168 others(307): Show c.1682+7527_1682+7528insCGACAGTGTAGGCACGGGCATGGGTG TGGGTGATGGTGTGGGTGTGGGCCAGGCTGTAGGTGTGGGCATGGGCGAC AGTGTAGGCATGGGCATGGGTGTGGGTGATGGTGTGGGTGTGGGCCAGGC TGTAGGTGTGGGCATGGGCGACAGTGTAGGCATGGGCATGGGTGTGGGTG ATGGTGTGGGTGTGGGCCAGGCTGTAGGTGTGGGCATGGGCGACAGTGTA GGCATGGGCATGGGTGTGGGTGATGGTGTGGGTGTGGGCCAGGCTGTAGG TGTGGGCATGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	7/9			chr10	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(281): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0068 a0002c0002t0008g0068	1	138	0.0072	288	c.32- others(301): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
AK5_chr1_77277019_77564966	77367845	A A	ATTATATA others(281): Show ATTATATATAATATATGTTATATATATTATATATAATATATGTTATATAT ATTATATATTATATGTTATATATATTATATATAATATATGTTATATATAT TATATATTATATGTTATATATATTATATATAATATGTTATATATTATATA TAACATGTTATATATAATATATATGTTATATATAATATATGTTATATATA TTATATATAATATATGTTATATATATTATATATAATATATGTTATATATA ATATATATAACATGTTATATATATTATATATAACATATG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19079.hp2 NA19091.hp1 NA18968.hp2 NA19079.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0001 a0002c0004t0002 a0001c0003t0001 a0002c0004t0002	a0001c0003t0001g0244 a0001c0003t0001g0262 a0002c0004t0002g0245 a0001c0003t0001g0244 a0001c0003t0001g0262 a0002c0004t0002g0245	3	139	0.0216	288	c.891 others(307): Show c.891+27292_891+27293insGTTATATATATTATATATAATATATG TTATATATATTATATATTATATGTTATATATATTATATATAATATATGTT ATATATATTATATATTATATGTTATATATATTATATATAATATGTTATAT ATTATATATAACATGTTATATATAATATATATGTTATATATAATATATGT TATATATATTATATATAATATATGTTATATATATTATATATAATATATGT TATATATAATATATATAACATGTTATATATATTATATATAACATATGTTA TATATAATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALG13_chrX_111676170_111765649	111721071	A A	AAGAAGGA others(281): Show AAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAA TTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGA AGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCT TCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGA AGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCT TCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03540.hp2 HG02922.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0073 a0001c0001t0001g0075	2	22	0.0909	288	c.132 others(304): Show c.1327-329_1327-42dupAACTTAATTCTTCCTTCTTCATAGAAGGA AGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCT TCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAA ACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTT CATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTT AATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATA GAAGGAAGA	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	11/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
ANK3_chr10_60021298_60394875	60365086	T T	TAAAAAAT others(281): Show TAAAAAATAGATGCTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCG GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTG GGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01496.hp1 HG02622.hp2 others(4): Show HG00323.hp2 HG01496.hp1 HG02622.hp2 HG03492.hp2 NA19000.hp2 NA19005.hp1 NA19043.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0012c0077	a0001c0001t0003 a0001c0001t0004 a0001c0001t0042 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0042 a0001c0002t0003 a0001c0002t0005 a0001c0005t0004 a0012c0077t0001	a0001c0001t0003g0113 a0001c0001t0004g0112 a0001c0001t0042g0145 others(4): Show a0001c0001t0003g0113 a0001c0001t0004g0112 a0001c0001t0042g0145 a0001c0002t0003g0139 a0001c0002t0005g0134 a0001c0005t0004g0140 a0012c0077t0001g0146	7	136	0.0515	288	c.114 others(307): Show c.114+24338_114+24339insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAG CATCTATTTTTT	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	1/43			chr10	TogoVar
ANO10_chr3_43360848_43627011	43571009	C C	CAAAAAGT others(281): Show CAAAAAGTGGGCGAAGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGG GTGGATCATGAGGTCAGGAGATCGAGACCACGGTGAAACCCCGTCTCTAC TAAAAATAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTGAGCCGAGACTGCGCCACTGTACTCCAGCCTGGGTGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02818.hp1 others(3): Show HG02559.hp1 HG02572.hp2 HG02818.hp1 HG03130.hp2 HG03579.hp2 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0131 a0003c0003t0002g0132 a0003c0003t0002g0133 others(3): Show a0003c0003t0002g0131 a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 a0003c0003t0002g0135 a0003c0003t0002g0197	6	220	0.0273	288	c.121 others(307): Show c.1218+3799_1218+3800insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGTCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTT TTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCTT CGCCCACTTTTT	ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	7/12			chr3	TogoVar
ANO2_chr12_5557655_5950259	5931897	T T	TAAGGAAG others(281): Show TAAGGAAGGAAGACTGGTAGGAAAGTGACTAATAAGGAAAGAAGGTAGAC GAGTGAGGAAAGAAGATAGACTAGTAAGGAAGGAAGACTGGTAAGAAAGT GACTAATAAGGAAAGAAGGCAGACGAGTAAGGAAAGAAGACAGAAAAGGA AGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGTAGACGAGTGA GGAAAGAAGATAGACTAGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAA TAAGGAAAGAAGGCAGACGAGTAAGGAAAGAAGACAGAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	160	0.0063	288	c.23- others(303): Show c.23-9094_23-9093insTTCTGTCTTCTTTCCTTACTCGTCTGCCTT CTTTCCTTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTAT CTTCTTTCCTCACTCGTCTACCTTCTTTCCTTATTAGTCACTTTCTTACC AGTCTTCCTTCCTTTTCTGTCTTCTTTCCTTACTCGTCTGCCTTCTTTCC TTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTATCTTCTT TCCTCACTCGTCTACCTTCTTTCCTTATTAGTCACTTTCCTACCAGTCTT CCTTCCTT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ANXA2_chr15_60342151_60402986	60349957	C C	CAGGGGAA others(281): Show CAGGGGAAGGCAAGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	134	0.0075	288	c.838 others(303): Show c.838-761_838-760insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCTTGC CTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350051	G G	GGAAGGCA others(281): Show GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGAGAGGGAGGGGAAGGCAAGGAGGCAGGA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	332	0.0030	288	c.838 others(303): Show c.838-855_838-854insTCCTGCCTCCTTGCCTTCCCCTCCCTCTCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(281): Show AATATATAATATATATTATATATAATTGTATATATAATATATATTATATA TAATTGTATATATAATATATATTATATATAATTGTATATATAATATATAT TATATATAATTGTATATATAATATATATTATATATAATTGTATATATAAT ATATATTATATATAATTGTATATATAATATATATTATATATATAATTGTA TATATAATATATATTATATATATAATTGTATATATAATATATATTATATA TATAATTGTATATATAATATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	34	0.0294	288	c.-12 others(299): Show c.-1255_-1254insATATATAATATATATTATATATAATTGTATATAT AATATATATTATATATAATTGTATATATAATATATATTATATATAATTGT ATATATAATATATATTATATATAATTGTATATATAATATATATTATATAT AATTGTATATATAATATATATTATATATAATTGTATATATAATATATATT ATATATATAATTGTATATATAATATATATTATATATATAATTGTATATAT AATATATATTATATATATAATTGTATATATAATATATATTATATATATAA TTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(281): Show AATATATAATATATATTATATATACAATTGTATATATAATATATATTATA TACAATTGTATATATAATATATATTATATATAATTGTATATATAATATAT ATTATATATAATTGTATATATAATATATATTATATATAATTGTATATATA ATATATATTATATATAATTGTATATATAATATATATTATATATATAATTG TATATATAATATATATTATATATATAATTGTATATAATATATATTATATA TATAATTGTATATATAATATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	34	0.0294	288	c.-12 others(299): Show c.-1255_-1254insATATATAATATATATTATATATACAATTGTATAT ATAATATATATTATATACAATTGTATATATAATATATATTATATATAATT GTATATATAATATATATTATATATAATTGTATATATAATATATATTATAT ATAATTGTATATATAATATATATTATATATAATTGTATATATAATATATA TTATATATATAATTGTATATATAATATATATTATATATATAATTGTATAT AATATATATTATATATATAATTGTATATATAATATATATTATATATATAA TTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(281): Show AATATATAATATATATTATATATACAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATAATTGTATATATAATATAT ATTATATATAATTGTATATATAATATATATTATATATAATTGTATATATA ATATATATTATATATAATTGTATATATAATATATATTATATATATAATTG TATATATAATATATATTATATATATAATTGTATATAATATATATTATATA TATAATTGTATATATAATATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	34	0.0294	288	c.-12 others(299): Show c.-1255_-1254insATATATAATATATATTATATATACAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATAATT GTATATATAATATATATTATATATAATTGTATATATAATATATATTATAT ATAATTGTATATATAATATATATTATATATAATTGTATATATAATATATA TTATATATATAATTGTATATATAATATATATTATATATATAATTGTATAT AATATATATTATATATATAATTGTATATATAATATATATTATATATATAA TTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(281): Show AATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATAATTGTATATATAATATAT ATTATATATAATTGTATATATAATATATATTATATATAATTGTATATAAT ATATATTATATATAATTGTATATATAATATATATTATATATATAATTGTA TATATAATATATATTATATATATAATTGTATATATAATATATATTATATA TATAATTGTATATATAATATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	34	0.0294	288	c.-12 others(299): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATAATT GTATATATAATATATATTATATATAATTGTATATATAATATATATTATAT ATAATTGTATATAATATATATTATATATAATTGTATATATAATATATATT ATATATATAATTGTATATATAATATATATTATATATATAATTGTATATAT AATATATATTATATATATAATTGTATATATAATATATATTATATATATAA TTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
ARHGAP39_chr8_144524179_144690846	144612388	A A	ACCAGCCA others(281): Show ACCAGCCAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACTC CAGCCAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACTCCA GCCAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACTCCAGC CAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACACCAGCCA GGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACTCCAGCCAGG GCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	69	0.0145	288	c.-81 others(305): Show c.-81-6981_-81-6694dupAGTGCAGCGGCGCAGCCGTGGCTCACCT CACTCTGTCGCCCTGGCTGGAGTGCAGCGGCGCAGCCGTGGCTCACCTCA CTCTGTCGCCCTGGCTGGTGTGCAGCGGCGCAGCCGTGGCTCACCTCACT CTGTCGCCCTGGCTGGAGTGCAGCGGCGCAGCCGTGGCTCACCTCACTCT GTCGCCCTGGCTGGAGTGCAGCGGCGCAGCCGTGGCTCACCTCACTCTGT CGCCCTGGCTGGAGTGCAGCGGCGCAGCCGTGGCTCACCTCACTCTGTCG CCCTGGCTGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144612580	A A	ACCAGCCA others(281): Show ACCAGCCAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACTC CAGCCAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACTCCA GCCAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACTCCAGC CAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACTCCAGCCA GGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACACCAGCCAGG GCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0062 a0002c0008t0001g0062	1	243	0.0041	288	c.-81 others(305): Show c.-81-6886_-81-6885insAGTGCAGCGGCGCAGCCGTGGCTCACCT CACTCTGTCGCCCTGGCTGGTGTGCAGCGGCGCAGCCGTGGCTCACCTCA CTCTGTCGCCCTGGCTGGAGTGCAGCGGCGCAGCCGTGGCTCACCTCACT CTGTCGCCCTGGCTGGAGTGCAGCGGCGCAGCCGTGGCTCACCTCACTCT GTCGCCCTGGCTGGAGTGCAGCGGCGCAGCCGTGGCTCACCTCACTCTGT CGCCCTGGCTGGAGTGCAGCGGCGCAGCCGTGGCTCACCTCACTCTGTCG CCCTGGCTGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144612765	G G	GCTGCACT others(281): Show GCTGCACTCCAGCCAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGC TGCACACCAGCCAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTG CACTCCAGCCAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCA CTCCAGCCAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACT CCAGCCAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACTCC AGCCAGGGGGATAGAGTGAAGTGAGCCACGGCTGCACCA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	244	0.0041	288	c.-81 others(305): Show c.-81-7071_-81-7070insTGGTGCAGCCGTGGCTCACTTCACTCTA TCCCCCTGGCTGGAGTGCAGCGGCGCAGCCGTGGCTCACCTCACTCTGTC GCCCTGGCTGGAGTGCAGCGGCGCAGCCGTGGCTCACCTCACTCTGTCGC CCTGGCTGGAGTGCAGCGGCGCAGCCGTGGCTCACCTCACTCTGTCGCCC TGGCTGGAGTGCAGCGGCGCAGCCGTGGCTCACCTCACTCTGTCGCCCTG GCTGGTGTGCAGCGGCGCAGCCGTGGCTCACCTCACTCTGTCGCCCTGGC TGGAGTGCAG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1839636	G G	GGTGTGGA others(281): Show GGTGTGGAAGCTGTCTGGTGTCGGGACAGTCTGGTGTGGAAGCTGTCTGG TGTGGAAGCTGTCTGGTGTGGGCACTGTCTGGTGTGGGGACTGTCCGGTG TGGGGACTGTCCGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTG GAAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTCTGGTGTGGG GACTGTCTTGTGTGGAAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGGGA CTGTCTGGTGTGGGGACTGTATGGTGTGGGGACTGTCTA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0051 a0001c0009t0051	a0001c0009t0051g0274 a0001c0009t0051g0274	1	362	0.0028	288	c.-47 others(305): Show c.-47-3711_-47-3710insAAGCTGTCTGGTGTCGGGACAGTCTGGT GTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGCACTGTCTGGTGT GGGGACTGTCCGGTGTGGGGACTGTCCGGTGTGGGGACTGTCCGGTGTGG AAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGGG ACTGTCTGGTGTGGGGACTGTCTTGTGTGGAAGCTGTCTGGTGTGGGGAC TGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTATGGTGTGGGGACTG TCTAGTGTGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARID2_chr12_45724706_45913037	45894840	A A	ACCTCTTT others(281): Show ACCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTTCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0287 a0001c0001t0013g0287	1	316	0.0032	288	c.536 others(307): Show c.5363+1129_5363+1130insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTTCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCTTTTTT	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARL13A_chrX_100964708_100995831	100972874	A A	AGTAGGGG others(281): Show AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCT GGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCGCGGCT GGCCAGGCGGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	97	0.0103	288	c.-14 others(303): Show c.-14-801_-14-800insTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGCGCGGCTGGCCAGGCGGGGGGGCTGACCCCTCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTC CCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASAP1_chr8_130047104_130448674	130049371	G G	GGGGGGCA others(281): Show GGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAG AGGGGAACACATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGAGAACA CATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGG GCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGA ACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGA GGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	288	0.0035	288	c.53 others(299): Show c.5359_*5360insATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTC TGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCA TGTGTTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCTCC TCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCC CCATGTGTTCTCCTCTGCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTT CCCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGC CCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2732		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049911	A A	AGGGCAGA others(281): Show AGGGCAGAGGAGAACACATGTGGGCAGAGGGGAATACATGGGGGGCAGAG GAGAACACATGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACAT GGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAG AGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAAC ACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGG GCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	207	0.0048	288	c.48 others(299): Show c.4819_*4820insCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCC TCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCC CATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTT CTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTG CCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCATGTG TTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCACATGTGTTCTCCTCT GCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2192		chr8	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(281): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACATATATAA ATATATGTTGTATATACGTATATACTATATATGTTGTATATACGTATATA CAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTG TATATACGTATATACAACATAAATATATGTTGTATATACGTATATACAAC ATAAATATATGTTGTATATACGTATATACATATATAAAT	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18954.hp2 NA18971.hp1 others(2): Show HG02273.hp2 NA18954.hp2 NA18971.hp1 NA18991.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0003g0099 others(2): Show a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0003g0099 a0001c0001t0003g0102 a0001c0001t0003g0160	5	102	0.0490	288	c.676 others(305): Show c.676-4666_676-4665insATTTATATATGTATATACGTATATACAA CATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTAT ATACGTATATACAACATATATTTATGTTGTATATACGTATATACAACATA TATTTATGTTGTATATACGTATATACAACATATATAGTATATACGTATAT ACAACATATATTTATATATGTATATACGTATATACAACATATATTTATAT ATGTATATACGTATATACAACATATATTTATATATGTATATACGTATATA CAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(281): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACC TCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCC ACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCC CCCCACCGCCCACCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCA CCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0050 a0001c0009t0050	a0001c0009t0050g0045 a0001c0009t0050g0045	1	5	0.2000	288	c.39+ others(305): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCC ACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCC ACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCC CACCTCCCCCCACCGCCCACCCCCCACCCCCTACCCCCCACCCCCCACCT CCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCC ACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79309050	A A	AGCAGGTA others(281): Show AGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGT CAGAGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAG TGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGG TAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGG TGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCC CCAGCAGGTAGAAGGTCAGGGGCTGAGTAGTGATCCTCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0191 a0002c0005t0001g0191	1	284	0.0035	288	c.177 others(307): Show c.1773+1835_1773+1836insCTGAGGAGTGATCCCCAGCAGGTAGA AGGTCAGAGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGA GGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAG CAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCA GGGGTGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTG ATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGTAGTGATCCTCCGCAGGTA GAAGGTCAGGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309050	A A	AGCAGGTA others(281): Show AGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGT CAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAG TGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCAGCAGG TAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGG CTGAGTAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCC CCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCTCC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	284	0.0035	288	c.177 others(307): Show c.1773+1835_1773+1836insCTGAGGAGTGATCCCCAGCAGGTAGA AGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGA GGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCAG CAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCA GGGGCTGAGTAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCTGAGGAGTG ATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCTCCGCAGGTA GAAGGTCAGGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309179	T T	GGAGGAGT others(281): Show GGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCC CAGCAGGTAGAAGGTCAGGGGCTGAGTAGTGATCCTCCGCAGGTAGAAGG TCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGA GTGATCCTCCGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAG GTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGG GTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18984.hp2 NA18943.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0009 a0001c0001t0001g0015	2	239	0.0084	288	c.177 others(307): Show c.1773+1944_1773+1945insGGAGGAGTGATCCCCAGCAGGTAGAA GGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAG TAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGC AGGTAGAAGGTCAGGGGCTGAGGAGTGATCCTCCGCAGGTAGAAGGTCAG GGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGA TCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAG AAGGTCAGGGGC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309322	C C	CTGAGTAG others(281): Show CTGAGTAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCC CCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAG GTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGG AGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCA GGTAGAAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGG GATGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0173 a0002c0005t0004g0173	1	223	0.0045	288	c.177 others(307): Show c.1773+2092_1773+2093insTAGTGATCCTCCGCAGGTAGAAGGTC AGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGT GATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGT AGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGC TGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCCC CAGCAGGTAGAAGGTCAGGGATGGAGGAGTGATCCCCAGCAGGTAGAAGG TCAGGGGTTGAG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	82970672	C C	CGTGGACG others(281): Show CGTGGACGCGACCTCCGCACCCAGCGTGGACGCGACCTCCGCACCCAGCG TGGACGCGACCTCCCCACCCAGCGTGGCCGCGACCTCCCCACCCAGCGTG GCCGCGACCTCCGCACACAGCGTGGCCGCGACCTCCGCACACAGCGTGGC CGTGACCTCCGCACCCGGTGTGGCCGTGACCTCCGCACATGGTGTGGCCG TGACCTCCGCACATGGTGTGGCCGTGACCTCCCCACCCGGTGTGGCCGTG ACCTCTGCACACAGCGTGGCCATGACCTCCGCACCCAGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0255 a0001c0001t0005g0255	1	108	0.0093	288	c.460 others(305): Show c.460-4927_460-4926insACTGGGTGCGGAGGTCATGGCCACGCTG TGTGCAGAGGTCACGGCCACACCGGGTGGGGAGGTCACGGCCACACCATG TGCGGAGGTCACGGCCACACCATGTGCGGAGGTCACGGCCACACCGGGTG CGGAGGTCACGGCCACGCTGTGTGCGGAGGTCGCGGCCACGCTGTGTGCG GAGGTCGCGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGGGTGGGGA GGTCGCGTCCACGCTGGGTGCGGAGGTCGCGTCCACGCTGGGTGCGGAGG TCGCGTCCAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970672	C C	CGTGGACG others(281): Show CGTGGACGCGACCTCCGCACCCAGCGTGGACGCGACCTCCGCACCCAGCG TGGACGCGACCTCCCCACCCAGCGTGGCCGCGACCTCCCCACCCAGCGTG GCCGCGACCTCCGCACACAGCGTGGCCGCGACCTCCGCACACAGCGTGGC CGTGACCTCCGCACCCGGTGTGGCCGTGACCTCCGCACATGGTGTGGCCG TGACCTCCGCACATGGTGTGGCCGTGACCTCCGCACCCGGTGTGGCCGTG ACCTCTGCACACAGCGTGGCCATGACCTCCGCACCCAGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03540.hp1 NA18906.hp1 HG03486.hp2 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0014 a0001c0003t0034 a0001c0001t0004 a0001c0001t0014 a0001c0003t0034	a0001c0001t0004g0250 a0001c0001t0014g0251 a0001c0003t0034g0201 a0001c0001t0004g0250 a0001c0001t0014g0251 a0001c0003t0034g0201	3	110	0.0273	288	c.460 others(305): Show c.460-4927_460-4926insACTGGGTGCGGAGGTCATGGCCACGCTG TGTGCAGAGGTCACGGCCACACCGGGTGCGGAGGTCACGGCCACACCATG TGCGGAGGTCACGGCCACACCATGTGCGGAGGTCACGGCCACACCGGGTG CGGAGGTCACGGCCACGCTGTGTGCGGAGGTCGCGGCCACGCTGTGTGCG GAGGTCGCGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGGGTGGGGA GGTCGCGTCCACGCTGGGTGCGGAGGTCGCGTCCACGCTGGGTGCGGAGG TCGCGTCCAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970672	C C	CGTGGCCG others(281): Show CGTGGCCGCGACCTCCGCACCCAGCGTGGCCGCGACCTCCCCACCCAGCG TGGCCGCGACCTCCGCACCCAGCGTGGCCGCGACCTCCCCACCCAGCGTG GCCGCGACCTCCCCACCCAGCGTGGCCGCGACCTCCGCACACAGCGTGGC CGCGACCTCCGCACACAGCGTGGCCGTGACCTCCGCACACGGTGTGGCCG TGACCTCCGCACATGGTGTGGCCGTGACCTCCCCACCCGGTGTGGCCGTG ACCTCTGCACACAGCGTGGCCATGACCTCCGCACCCAGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	108	0.0093	288	c.460 others(305): Show c.460-4927_460-4926insACTGGGTGCGGAGGTCATGGCCACGCTG TGTGCAGAGGTCACGGCCACACCGGGTGGGGAGGTCACGGCCACACCATG TGCGGAGGTCACGGCCACACCGTGTGCGGAGGTCACGGCCACGCTGTGTG CGGAGGTCGCGGCCACGCTGTGTGCGGAGGTCGCGGCCACGCTGGGTGGG GAGGTCGCGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGGGTGCGGA GGTCGCGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGGGTGCGGAGG TCGCGGCCAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar

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