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
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(465): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG AGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GAGGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGG GATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAA AGGAGGGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGG AAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0012 a0006c0016t0012	a0006c0016t0012g0201 a0006c0016t0012g0201	1	228	0.0044	472	c.259 others(493): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCCTCC CTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTC CCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCT CCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCC TTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTC CTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTC TCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADARB2_chr10_1172313_1742525	1558590	G G	GTGGGTGC others(465): Show GTGGGTGCTCAGCCCCCACGCACCCCATCTAAATCTGCATCCCACCTCTG TCCCCTTCTGTGGGTGCTCAGCCCCTGCATGCTCCATCTAAACTCGAATC CCACCTCTGCCCCCCTCCGTGGGTGCTCAGCCCCCCCATGCCCCATCTAA ATCCACATCCCACCTCTGCCCCCCTCCGTGGGTGCTCAGCCCCCACACAC CCCATCTAAATCTGCATCCCACCTCTGTCCCCTTCTGTGGGTGCTCAGCC CCCACGCACCCCATCTAAATCTGCATCCCACCTCTGTCCCCTTCTGTGGG TGCTCAGCCCCTGCATGCTCCGTCTAAACTCGAATCCCACCTCTGCCCCC CTCCATGGGTGCTCAGCCCCCGCATGCTCCATCTAAACTCGAATCCCACC TCTGCCCCCCTCCATGGGTGCTCAGCCCCCGCATGCTCCATCTAAACTCG AATCCCACCTCTGCCCCCCTCCA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0046 a0001c0003t0009g0046	1	106	0.0094	472	c.100 others(493): Show c.100+178460_100+178461insTGGAGGGGGGCAGAGGTGGGATTC GAGTTTAGATGGAGCATGCGGGGGCTGAGCACCCATGGAGGGGGGCAGAG GTGGGATTCGAGTTTAGATGGAGCATGCGGGGGCTGAGCACCCATGGAGG GGGGCAGAGGTGGGATTCGAGTTTAGACGGAGCATGCAGGGGCTGAGCAC CCACAGAAGGGGACAGAGGTGGGATGCAGATTTAGATGGGGTGCGTGGGG GCTGAGCACCCACAGAAGGGGACAGAGGTGGGATGCAGATTTAGATGGGG TGTGTGGGGGCTGAGCACCCACGGAGGGGGGCAGAGGTGGGATGTGGATT TAGATGGGGCATGGGGGGGCTGAGCACCCACGGAGGGGGGCAGAGGTGGG ATTCGAGTTTAGATGGAGCATGCAGGGGCTGAGCACCCACAGAAGGGGAC AGAGGTGGGATGCAGATTTAGATGGGGTGCGTGGGGGCTGAGCACCCA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
AFDN_chr6_167821911_167977023	167976167	C C	CAGGAGGC others(465): Show CAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAG GCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTG GGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTGGGGGTC ACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTGGGGGTCACTCCC CCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCA GTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTTG GGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGA AGACAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTG GGGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGGGGTCAT TCCCCCTGCAGTGTGCGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	326	0.0031	472	c.62 others(483): Show c.6232_*6233insAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTG TGTGGGGAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGG GAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAG GAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCA GTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTGGGG GTCACTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCC CCCTGCAGTGTGTTGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAG TGTGGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTTGG GAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAA GACAGTGGGGGTCATTCCCCCTGCAGTGTGCGGGGAGG	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4145		chr6	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(465): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGA GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG GGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAGGGAGGGGGAGGGGAG GGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGG AGGATGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGGAGGGGA GGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAG GGGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAG GGGAGGGGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0020 a0020	a0020c0042 a0020c0042	a0020c0042t0001 a0020c0042t0001	a0020c0042t0001g0337 a0020c0042t0001g0337	1	350	0.0029	472	c.248 others(487): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCGCCTCCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCT CGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTC CCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCC CCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCCCCT CCCCCTCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCTCCTCCC CTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTC CCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCT CCCACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(465): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGA GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG GGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGGGA GGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGG GAGGATGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGA GGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAG GGGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAG GGGAGGGGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01258.hp1 HG01346.hp2 others(26): Show HG01081.hp1 HG01258.hp1 HG01346.hp2 HG01496.hp2 HG02004.hp1 HG02040.hp2 HG02145.hp1 HG02809.hp1 HG03540.hp2 HG03704.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp1 NA18939.hp2 NA18952.hp2 NA18954.hp1 NA18957.hp2 NA19030.hp1 NA19030.hp2 NA19064.hp2 NA19065.hp1 NA19088.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0002 a0005 a0009 a0002 a0005 a0009	a0002c0002 a0002c0014 a0005c0005 others(1): Show a0002c0002 a0002c0014 a0005c0005 a0009c0012	a0002c0002t0001 a0002c0002t0022 a0002c0014t0001 others(3): Show a0002c0002t0001 a0002c0002t0022 a0002c0014t0001 a0002c0014t0009 a0005c0005t0001 a0009c0012t0001	a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 others(26): Show a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0027 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0106 a0002c0002t0001g0128 a0002c0002t0001g0131 a0002c0002t0001g0152 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0289 a0002c0002t0001g0306 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0314 a0002c0002t0022g0171 a0002c0014t0001g0150 a0002c0014t0009g0167 a0005c0005t0001g0031 a0009c0012t0001g0176	29	350	0.0829	472	c.248 others(487): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCGCCTCCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCT CGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTC CCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCC CCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCCCCTC CCCCTCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCTCCTCCC CTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTC CCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCT CCCACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(465): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGG GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG TCGACGAGTGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGTGGGAGGGGA GGGGGAGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAG GATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGA AGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGAG GGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGGAG GGGAGGGGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	350	0.0029	472	c.248 others(487): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCCT CCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTC CCCCTTCTCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCT CCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCTC CCACCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCACTCGTCGACTCCCCT CCCCCTCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCC CTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTC CCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCT CCCACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
AP2A2_chr11_920870_1017240	964776	C C	CAAAGGAA others(465): Show CAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGTGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	268	0.0037	472	c.136 others(489): Show c.136+5301_136+5302insGGTGGAAAGCATGGAACGGGCGGGAAAT TAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGTGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGA	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARFRP1_chr20_63693647_63712976	63693729	A A	ACCACCTC others(465): Show ACCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTC CACACCACCACCTCCACCTCCACCACCTCCACCACCTCCACCACCACCAC CTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCACCACCA CCTCCACCTCCACCACCACCACCTCCACCACCACCACCTCCACCTCCACC ACCACCACCTCCACCTCCACCACCACCTCCACCACCACCTCCACCACCTC CACCACCTCCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCT CCACCACCACCTCCACCACCTCCACCACCACCACCACCACCTCCACCACC TCCACCTCCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCACCTC CACCACCTCCACCACCACCTCCACACCTCCACCACCACCTCCACCACCAC CTCCACCACCACCTCCTCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	296	0.0034	472	c.67 others(483): Show c.6713_*6714insAGGTGGAGGAGGTGGTGGTGGAGGTGGTGGTGGA GGTGGTGGTGGAGGTGTGGAGGTGGTGGTGGAGGTGGTGGAGGTGGTGGA GGTGGAGGTGGTGGAGGTGGAGGTGGAGGTGGAGGTGGAGGTGGTGGAGG TGGTGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGAGGTGGAGGTG GAGGTGGTGGAGGTGGAGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGGA GGTGGTGGTGGAGGTGGTGGTGGAGGTGGAGGTGGTGGTGGTGGAGGTGG AGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGAGGTGGTGGTGGTG GAGGTGGTGGTGGTGGAGGTGGAGGTGGTGGAGGTGGAGGTGGTGGTGGT GGAGGTGGTGGAGGTGGTGGAGGTGGAGGTGGTGGTGTGGAGGTGGAGGT GGTGGTGGTGGAGGTGGAGGTGGTGGTGGTGGAGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4917		chr20	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(465): Show ATATATATAGTTTATATATATATAGTTTATATATATATACTATATATATA GTTTATATATACTATATATATAGTTTATATATATATACTATATATAGTTT ATATATATATACTATATATAGTATATATATACTATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTTTATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTTTATATATATATATACTAT ATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATATA AACTATATATATAGTTTATATATATATATACTATATATATAGTATATATA TATACTATATATATAGTTTATATATATATACTATATATATAGTTTATATA TATATACTATATATATAGTTTATATATATATACTATATATATTTTATATA TATATATACTATATATATAGTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	304	0.0033	472	c.331 others(491): Show c.3314-1170_3314-1169insAAACTATATATATAGTATATATATAT ATAAAATATATATAGTATATATATATAAACTATATATATAGTATATATAT ATAAACTATATATATAGTATATATATATAAACTATATATATAGTATATAT ATATACTATATATATAGTATATATATATATAAACTATATATATAGTTTAT ATATATATAAACTATATATATAGTTTATATATATATAAACTATATATATA GTATATATATATATAAACTATATATATAGTATATATATATAAACTATATA TATAGTATATATATAAACTATATATATAGTATATATATATAAACTATATA TATAGTATATATATAGTATATATATACTATATATAGTATATATATATAAA CTATATATAGTATATATATATAAACTATATATATAGTATATATAAACTAT ATATATAGTATATATATATAAACTATATATATATAAACTATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(465): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACAT ATCTGTATACATATGTATACATATCTGTATACATATGTGTATACAGATCT GTATACATATGTATACAGATCTGTATACATATGTGTATACATATCTGTAT ACATATGTGTATACATATCTGTATACATATGTATACATATCTGTATACAT ATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	342	0.0029	472	c.366 others(489): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACACATATGTATACA GATATGTATACACATATGTATACAGATCTGTATACATATGTATACAGATC TGTATACACATATGTATACAGATATGTATACATATGTATACAGATATGTA TACAGATATGTATACACATATGTATACAGATATGTATACACATATGTATA CAGATATGTATACACATATGTATATACAGATATGTATACACATATGTATA TACAGATATGTATACACATATGTATACAGATATGTATACATATGTATACA GATATGTATATACATATGTATACAGATATGTATATACATATGTATACAGA TATGTATACATATGTATACAGATATGTATATACATATGTATACAGATATG TATATACAGATATGTATACAGATATGTATATACAGATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176941	C C	CCGTATAC others(465): Show CCGTATACATATGTGTACATATCCGTATACATATGTGTACATATCCGTAT ACATATGTGTACATATCCGTATACATATGTGTACATATCCGTATACATAT GTGTACATATCCGTATACATATGTGTACATATCCGTATACATATGTGTAC ATATCCGTATACATATGTGTACATATCCGTATACATATGTGTACATATCC GTATACATATGTGTACATATCCGTATACATATGTGTACATATCCGTATAC ATATGTGTACATATCCGTATACATATGTGTACATATCCGTATACATATGT GTACACATCCGTATACATATGTGTACATATCCGTATACAGATCTGTACAC ATCCGTATACAGATCTGTACACATCCGTATACAGATCTGTACATATCCGT ATACAGATCTGTACATATCTGTATACAGATCTGTACATATCTGTATACAT ATGTGTACACATCTGTATACATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	342	0.0029	472	c.366 others(489): Show c.366+3803_366+3804insTATGTATACAGATGTGTACACATATGTA TACAGATATGTACAGATCTGTATACAGATATGTACAGATCTGTATACGGA TATGTACAGATCTGTATACGGATGTGTACAGATCTGTATACGGATGTGTA CAGATCTGTATACGGATATGTACACATATGTATACGGATGTGTACACATA TGTATACGGATATGTACACATATGTATACGGATATGTACACATATGTATA CGGATATGTACACATATGTATACGGATATGTACACATATGTATACGGATA TGTACACATATGTATACGGATATGTACACATATGTATACGGATATGTACA CATATGTATACGGATATGTACACATATGTATACGGATATGTACACATATG TATACGGATATGTACACATATGTATACGGATATGTACACATATGTATACG GATATGTACACATATGTATACGGATATGTACACATATGTATACG	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(465): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTC CTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCT TCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTC CCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCC TCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTC CCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTC CCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0023 a0001c0001t0007g0023	1	142	0.0070	472	c.244 others(491): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAA GGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGG AGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAAGGAGGGAA GGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGAA GGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(465): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTC CCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTC CTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTC CCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0132 a0001c0001t0051g0132	1	142	0.0070	472	c.244 others(491): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAA GGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGG AGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAA GGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGG AGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAG GGAAGGAAGGAGGGAAGGAGGGAAGGACGGAGGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CCDC170_chr6_151489017_151626193	151499142	A A	ATACTAGG others(465): Show ATACTAGGCACTCTGTATAAGTGGAATCAGACTGTAGTTGACTATTCTAG GCATGCTGTATAAGTGGAATCATACTGTATTTGACTATTTTAGGCACGGT GTATAAGTGGAATCATACTGTATTTGACTATTCTAGGCATGCTGTATAAG TGGAATCAGACTGTATTTGACTATTCTAGGCATGGTGTATAAGTGGAATC ATACTGTATTTAACTATTCTACGCATGCTGTATAAGTGGAATCAGACTGT ATTTGACTATTCTAGGCACGCTGTATAAGTGGAGTCAGAGTGTATTTAAC TATTCTAGCCATTCTGTGTAAGTGGAATCATGCTGTATTTGACTCTTCTA GGCATTCTGTATAAGTGGAATCAGACTGTATTGACTATTCTAGGCACGCT GTATAAGTGGAATCAGACTGTATTTGACTATTCTAGGCACTCTGTATAAG TGGAATCAGACTGTAGTTGACTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG06807.hp1 others(2): Show HG01891.hp2 HG02109.hp2 HG06807.hp1 NA19030.hp2 NA19043.hp1	a0003 a0007 a0003 a0007	a0003c0004 a0003c0008 a0007c0011 a0003c0004 a0003c0008 a0007c0011	a0003c0004t0007 a0003c0008t0007 a0007c0011t0008 a0003c0004t0007 a0003c0008t0007 a0007c0011t0008	a0003c0004t0007g0113 a0003c0004t0007g0114 a0003c0008t0007g0112 others(2): Show a0003c0004t0007g0113 a0003c0004t0007g0114 a0003c0008t0007g0112 a0007c0011t0008g0115 a0007c0011t0008g0116	5	320	0.0156	472	c.57+ others(487): Show c.57+4958_57+4959insACTAGGCACTCTGTATAAGTGGAATCAGAC TGTAGTTGACTATTCTAGGCATGCTGTATAAGTGGAATCATACTGTATTT GACTATTTTAGGCACGGTGTATAAGTGGAATCATACTGTATTTGACTATT CTAGGCATGCTGTATAAGTGGAATCAGACTGTATTTGACTATTCTAGGCA TGGTGTATAAGTGGAATCATACTGTATTTAACTATTCTACGCATGCTGTA TAAGTGGAATCAGACTGTATTTGACTATTCTAGGCACGCTGTATAAGTGG AGTCAGAGTGTATTTAACTATTCTAGCCATTCTGTGTAAGTGGAATCATG CTGTATTTGACTCTTCTAGGCATTCTGTATAAGTGGAATCAGACTGTATT GACTATTCTAGGCACGCTGTATAAGTGGAATCAGACTGTATTTGACTATT CTAGGCACTCTGTATAAGTGGAATCAGACTGTAGTTGACTCT	CCDC170	ENSG00000120262.10	transcript	ENST00000239374.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC170_chr6_151489017_151626193	151499142	A A	ATACTAGG others(465): Show ATACTAGGCACTCTGTATAAGTGGAATCAGACTGTAGTTGACTATTCTAG GCATGCTGTATATGTGGAATCATACTGTATTTGACTATTTTAGGCACGGT GTATAAGTGGAATCATACTGTATTTGACTATTCTAGGCATGCTGTATAAG TGGAATCAGACTGTATTTGACTATTCTAGGCATGGTGTATAAGTGGAATC ATACTGTATTTAACTATTCTACGCATGCTGTATAAGTGGAATCAGACTGT ATTTGACTATTCTAGGCACGCTGTATAAGTGGAGTCAGAGTGTATTTAAC TATTCTAGCCATTCTGTGTAAGTGGAATCATGCTGTATTTGACTCTTCTA GGCATTCTGTATAAGTGGAATCAGACTGTATTGACTATTCTAGGCACGCT GTATAAGTGGAATCAGACTGTATTTGACTATTCTAGGCACTCTGTATAAG TGGAATCAGACTGTAGTTGACTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01884.hp2 HG02257.hp1 others(6): Show HG01175.hp2 HG01884.hp2 HG02257.hp1 HG02280.hp2 HG03098.hp1 HG03471.hp2 HG03540.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0005 a0002c0002 a0002c0003 others(3): Show a0001c0005 a0002c0002 a0002c0003 a0003c0004 a0003c0008 a0007c0011	a0001c0005t0058 a0002c0002t0045 a0002c0003t0014 others(5): Show a0001c0005t0058 a0002c0002t0045 a0002c0003t0014 a0002c0003t0060 a0003c0004t0007 a0003c0008t0007 a0003c0008t0035 a0007c0011t0011	a0001c0005t0058g0124 a0002c0002t0045g0120 a0002c0003t0014g0118 others(6): Show a0001c0005t0058g0124 a0002c0002t0045g0120 a0002c0003t0014g0118 a0002c0003t0014g0119 a0002c0003t0060g0122 a0003c0004t0007g0123 a0003c0008t0007g0210 a0003c0008t0035g0121 a0007c0011t0011g0117	9	320	0.0281	472	c.57+ others(487): Show c.57+4958_57+4959insACTAGGCACTCTGTATAAGTGGAATCAGAC TGTAGTTGACTATTCTAGGCATGCTGTATATGTGGAATCATACTGTATTT GACTATTTTAGGCACGGTGTATAAGTGGAATCATACTGTATTTGACTATT CTAGGCATGCTGTATAAGTGGAATCAGACTGTATTTGACTATTCTAGGCA TGGTGTATAAGTGGAATCATACTGTATTTAACTATTCTACGCATGCTGTA TAAGTGGAATCAGACTGTATTTGACTATTCTAGGCACGCTGTATAAGTGG AGTCAGAGTGTATTTAACTATTCTAGCCATTCTGTGTAAGTGGAATCATG CTGTATTTGACTCTTCTAGGCATTCTGTATAAGTGGAATCAGACTGTATT GACTATTCTAGGCACGCTGTATAAGTGGAATCAGACTGTATTTGACTATT CTAGGCACTCTGTATAAGTGGAATCAGACTGTAGTTGACTCT	CCDC170	ENSG00000120262.10	transcript	ENST00000239374.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC178_chr18_32932406_33445721	33116804	A A	ATTAGGTC others(465): Show ATTAGGTCAGATTCACTCCGGATAATGTCCTCATCCTAAAAATCAACTGA TTTGGGACTTTAATTACATGTGCAAAATTCCTTCACAGCAACTCCTCAGC AAATGTTAATTGAATGACTGGAAAATGTGTGTGTGTGTATATATATATAT ATATATACACATATGTCCTGGAATCAATCCGCAAAGCAGAATCAGTAGGA TGCAGAGCTAGATAACAGGTGATGATGATGATAGATAGATAGATGCATAG ACAGACATAGATATAGACTATCTATCTATCTATCTAAAGTAATTAACTTT TGCAATTGTCAGGGAGGCTAAGTAAATTCAAAGTCTATCATCAGGAAGGA TCACAGGAAGGCTAGAAACCGTGAGTATGGGCTAAAACTGTTGTCCACAG ATAGAAGTTAGAATGTCTTCTTTCTCTCAGTCCACTCCTGTGTTCTCATA GGAGTTCTCCTACAACCTGGTTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18960.hp1 NA18988.hp2 others(1): Show HG01433.hp1 NA18960.hp1 NA18988.hp2 NA19043.hp2	a0002 a0012 a0002 a0012	a0002c0002 a0012c0004 a0002c0002 a0012c0004	a0002c0002t0001 a0012c0004t0001 a0002c0002t0001 a0012c0004t0001	a0002c0002t0001g0019 a0002c0002t0001g0021 a0002c0002t0001g0033 others(1): Show a0002c0002t0001g0019 a0002c0002t0001g0021 a0002c0002t0001g0033 a0012c0004t0001g0005	4	58	0.0690	472	c.223 others(493): Show c.2239-23895_2239-23894insCAACCAGGTTGTAGGAGAACTCCT ATGAGAACACAGGAGTGGACTGAGAGAAAGAAGACATTCTAACTTCTATC TGTGGACAACAGTTTTAGCCCATACTCACGGTTTCTAGCCTTCCTGTGAT CCTTCCTGATGATAGACTTTGAATTTACTTAGCCTCCCTGACAATTGCAA AAGTTAATTACTTTAGATAGATAGATAGATAGTCTATATCTATGTCTGTC TATGCATCTATCTATCTATCATCATCATCACCTGTTATCTAGCTCTGCAT CCTACTGATTCTGCTTTGCGGATTGATTCCAGGACATATGTGTATATATA TATATATATATACACACACACACATTTTCCAGTCATTCAATTAACATTTG CTGAGGAGTTGCTGTGAAGGAATTTTGCACATGTAATTAAAGTCCCAAAT CAGTTGATTTTTAGGATGAGGACATTATCCGGAGTGAATCTGACCTAA	CCDC178	ENSG00000166960.17	transcript	ENST00000383096.8	protein_coding	20/22			chr18	TogoVar
CCDC183_chr9_136791338_136812741	136802876	G G	GGGGGCCC others(465): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	398	0.0025	472	c.666 others(487): Show c.666+224_666+225insCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803290	C C	CCCAGGGC others(465): Show CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCGGGGGCCCT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	398	0.0025	472	c.666 others(487): Show c.666+511_666+512insCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(465): Show CACTATATATAGTAGTTATATATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTTTATATATACTATATA TACACTATATATAGTAGTTATATATACTACTATATATACTACTATATATA GTATATACTATATATACACTATATATAGTAGTATATATACTACTATATAT ACTACTATATATAGTATATACTATATATACACTATATATACACTATATAT AGCATATATACTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTT ATATATACTATATATACTATATATAGTTTATATATACTATATATACTATA TATAGTTTATATATACTATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18977.hp1 NA18968.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0358 a0001c0001t0001g0323 a0001c0001t0001g0358	2	396	0.0051	472	c.349 others(487): Show c.349+948_349+949insTACACTATATAGTAGTTATATATACTACAT ATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTA GTTATATATACTATATATACACTATATATAGTTTATATATACTATATATA CACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGT ATATACTATATATACACTATATATAGTAGTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGTAGTTATATATACTATATATA CACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTTAT ATATACTATATATACTATATATAGTTTATATATACTATATATACTATATA TAGTTTATATATACTATATATACTATATATAGTAGTTATATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(465): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCC TCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	256	0.0039	472	c.-45 others(493): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(465): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCA CTTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCT TCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCCTTCCCCCTCT TCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTT CCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGC CTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTT CTCCCCCCCTCCCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACT CTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCCCCTCCCCACTCC CCACTCCCTCCCTCTTCCCCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01074.hp1 others(20): Show HG00099.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01255.hp2 HG02129.hp2 HG02523.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03130.hp2 HG03239.hp2 HG03453.hp2 HG03540.hp2 NA19086.hp1 NA19240.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0017 a0001c0001t0043 a0001c0001t0050 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0002t0029 a0001c0003t0002 a0001c0003t0005 a0001c0003t0039 a0001c0004t0012 a0001c0004t0013	a0001c0001t0001g0183 a0001c0001t0002g0172 a0001c0001t0003g0007 others(20): Show a0001c0001t0001g0183 a0001c0001t0002g0172 a0001c0001t0003g0007 a0001c0001t0003g0169 a0001c0001t0005g0006 a0001c0001t0013g0083 a0001c0001t0017g0004 a0001c0001t0043g0008 a0001c0001t0050g0173 a0001c0002t0001g0067 a0001c0002t0001g0088 a0001c0002t0001g0167 a0001c0002t0003g0105 a0001c0002t0005g0005 a0001c0002t0015g0143 a0001c0002t0016g0035 a0001c0002t0018g0084 a0001c0002t0029g0106 a0001c0003t0002g0082 a0001c0003t0005g0009 a0001c0003t0039g0034 a0001c0004t0012g0182 a0001c0004t0013g0074	23	194	0.1186	472	c.75- others(489): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC TCCCCCTTCCCACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTC CTACTCCCCCTTCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTT TCTACTCTCCCTTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTC CCTACTCCCTCCATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCC CTACTCCCCACTCCCTCCTTCTCCCCCCCTCCCCACTCCCTCCCTCTCCC CCTCTCCCTCTCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCC CTCTCCCCCCTCCCCACTCCCCACTCCCTCCCTCTTCCCCCCCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11107987	C C	CTTCCCTC others(465): Show CTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCAC TTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCTT CCGACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCCTTCCCCCTCTT CCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTC CCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCC TCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTC TCCCCCCCTCCCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACTC TCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCCCCTCCCCACTCCC CACTCCCTCCCTCTTCCCCCCCG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0053 a0001c0005t0053	a0001c0005t0053g0185 a0001c0005t0053g0185	1	194	0.0052	472	c.75- others(489): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC TCCCCCTTCCCACTCCCCCTTCCGACTTCCCACTCCCCCCTTCCCCCTTC CTACTCCCCCTTCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTT TCTACTCTCCCTTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTC CCTACTCCCTCCATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCC CTACTCCCCACTCCCTCCTTCTCCCCCCCTCCCCACTCCCTCCCTCTCCC CCTCTCCCTCTCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCC CTCTCCCCCCTCCCCACTCCCCACTCCCTCCCTCTTCCCCCCCG	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12			chr10	TogoVar
CIP2A_chr3_108544864_108594438	108575597	T T	CGTATATA others(465): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTA TATACACGTATATATACTCATATACATGTGTGTATATACACGTATATATA CTCATATACGTGTGTATATACACGTATATATACTCATATACGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACGT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	372	0.0027	472	c.894 others(487): Show c.894+674_894+675insCGTATATACACACATGTATATGAGTATATA TACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACA CGTATATGAGTATATATACGTGTATATACACACGTATATGAGTATATATA CGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACACA TGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATA TACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACA CATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATA TATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACA CACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTA TATATACGTGTATATACACACATGTATATGAGTATATATACG	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(465): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATACATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATCAGATATATATATCA TATATATCATATATATCATTTGTATCATATATATATCATATATATCATAT GTATCATATATATCATGTATATATCATATATATCATATATATCATATATG TATTCATATATATCATATATATTCATATATATCATATATTCATATATATC ATATATATTCATATATATCATATATTCATATATATCATATATATTCATAT ATATATCATATATATTCATATATATATCATATATATTCATATATATATCA TATATATTCATATATATATCATA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0002 a0012c0016t0002	a0012c0016t0002g0054 a0012c0016t0002g0054	1	182	0.0055	472	c.267 others(489): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATACATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATCAGATATATATATCATA TATATCATATATATCATTTGTATCATATATATATCATATATATCATATGT ATCATATATATCATGTATATATCATATATATCATATATATCATATATGTA TTCATATATATCATATATATTCATATATATCATATATTCATATATATCAT ATATATTCATATATATCATATATTCATATATATCATATATATTCATATAT ATATCATATATATTCATATATATATCATATATATTCATATATATATCATA TATATTCATATATATATCATATATATTCATATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(465): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATATATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATCATATGTATCATATATATCATGTATATATCATA TATATCATATATATCATATATGTATTCATATATATCATATATATTCATAT ATCATATATATTCATATATATCATATATTCATATATATCATATATATTCA TATATATCATATATTCATATATATCATATATATTCATATATATATCATAT ATATTCATATATATATCATATATATTCATATATATATCATATATATTCAT ATATATATCATATATATTCATATATATATCATATATATTCATATATATAT CATATATATTCATATATATCATA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	182	0.0055	472	c.267 others(489): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATATATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATCATATGTATCATATATATCATGTATATATCATATA TATCATATATATCATATATGTATTCATATATATCATATATATTCATATAT CATATATATTCATATATATCATATATTCATATATATCATATATATTCATA TATATCATATATTCATATATATCATATATATTCATATATATATCATATAT ATTCATATATATATCATATATATTCATATATATATCATATATATTCATAT ATATATCATATATATTCATATATATATCATATATATTCATATATATATCA TATATATTCATATATATCATATATATTCATATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL4A2_chr13_110302284_110518209	110481803	T T	TTGCTGGA others(465): Show TTGCTGGAGACACACTGTTCTGTCCCTCTGTGCTGGAGACACACTGTTCT GTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACA CACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCGTT GCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGT CCCTCCGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACA CTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTG GAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCC TCCGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTG TTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGG AGACACACTGTTCTGTCCCTCCG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0012 a0002c0034t0012	a0002c0034t0012g0328 a0002c0034t0012g0328	1	372	0.0027	472	c.275 others(489): Show c.2759-697_2759-696insTTCTGTCCCTCTGTGCTGGAGACACACT GTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGG AGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTT CCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGC TCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAG ACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCG TGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCT GTCCCTCCGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACA CACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATT GCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CPNE4_chr3_131528569_132040014	131978428	T T	TTATATAT others(465): Show TTATATATATATTTATATATATTTATATATATATTTATATATATATTTAT ATATATATTTATATATATTTATATATTTATATATATTTATATATATATTT ATATATTTATATATATTTATATATATATTTATATATTTATATATATATTT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATTT ATATATATATTTATATATTTATATATATTTATATATTTATATATATTTAT ATATATTTATATATATATTTATATATTTATATATATTTATATATATTTAT ATATATATTTATATATTTATATATATTTATATATATTTATATATATATTT ATATATTTATATATATTTATATATATTTATATATATATTTATATATTTAT ATATATTTATATATATTTATATATATATTTATATATTTATATATATTTAT ATATATATTTATATATATTTATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0063 a0001c0002t0003g0063	1	94	0.0106	472	c.-2+ others(489): Show c.-2+56138_-2+56139insTATAAATATATATAAATATATATATAAA TATATATAAATATATAAATATATATATAAATATATATAAATATATATAAA TATATAAATATATATATAAATATATATAAATATATATAAATATATAAATA TATATATAAATATATATAAATATATATAAATATATAAATATATATATAAA TATATATAAATATATATAAATATATAAATATATATATAAATATATATAAA TATATATAAATATATAAATATATATAAATATATAAATATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATAAATATATAAATA TATATATAAATATATAAATATATATATAAATATATATAAATATATAAATA TATATATAAATATATATAAATATATAAATATATATAAATATATATATAAA TATATATATAAATATATATATAAATATATATAAATATATATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CROCC2_chr2_240901336_240998311	240924115	C C	CCCCCCAC others(465): Show CCCCCCACACTAACGCAGTCCCCCACACTAACCCAGTCCCCCACACTAAC CCAGCCCCCACACTGACCCGGCCCCCAACACTAACCCAGCCCCCCACACT AACCCAGTCCCCACACTAACCCGGCCCCCACACTGACCCAGTCCCCACAC TAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCAC ACTAACCCAGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCC CACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTGACCCAGT CCCCACACTGACCCGGCCCCCACACTGACCCGGTCCCCACACTAACCCGG CCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTGACC CGGCCCCCACACTGACCCGGCCCCCACACTAACCCAGTCCCCCACACTAA CCCGGCCCCCCACACTAACCCGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0012 a0012	a0012c0080 a0012c0080	a0012c0080t0001 a0012c0080t0001	a0012c0080t0001g0178 a0012c0080t0001g0178	1	350	0.0029	472	c.488 others(489): Show c.488+1483_488+1484insGCAGTCCCCCACACTAACCCAGTCCCCC ACACTAACCCAGCCCCCACACTGACCCGGCCCCCAACACTAACCCAGCCC CCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTGACCCAGT CCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCG GCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCACACTAACC CGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACT GACCCAGTCCCCACACTGACCCGGCCCCCACACTGACCCGGTCCCCACAC TAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCA CACTGACCCGGCCCCCACACTGACCCGGCCCCCACACTAACCCAGTCCCC CACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAAC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924445	C C	CCCCCACA others(465): Show CCCCCACACTAACCCGGTCCCCACACTAACCCAGCCCCCCACACTAACCC GGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCCACACTAA CCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACAC TAACCCAGCCCTCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCAC ACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCC ACACTGACCCAGCCCCCACACTAACCCTAACCCCACACTAACCCGGCCCC CACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGC CCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCG GCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAAC CCGGCCCCCCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	350	0.0029	472	c.489 others(489): Show c.489-1265_489-1264insGGTCCCCACACTAACCCAGCCCCCCACA CTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCC ACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCC CCCACACTAACCCAGCCCTCACACTAACCCAGCCCCCACACTAACCCGGC CCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCC GGCCCCCACACTGACCCAGCCCCCACACTAACCCTAACCCCACACTAACC CGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTA ACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACAC TAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCA CACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924568	C C	CCTCACAC others(465): Show CCTCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCG GCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTGACC CAGCCCCCACACTAACCCTAACCCCACACTAACCCGGCCCCCACACTAAC CCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACT AACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACA CTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCC ACACTAACCCAGCCCCCAACACTAACCCGGCCCCCCACACTAACCCGGCC CCCAACACTAACCCGGCCCCCACACTAACCCAGCCCCCCACACTAACCCA GCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAAC CCGGCCCCCCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0336 a0001c0002t0002g0336	1	350	0.0029	472	c.489 others(489): Show c.489-1155_489-1154insTCACACTAACCCAGCCCCCACACTAACC CGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTA ACCCGGCCCCCACACTGACCCAGCCCCCACACTAACCCTAACCCCACACT AACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCA CACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCC CCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCAACACTAACCCGG CCCCCCACACTAACCCGGCCCCCAACACTAACCCGGCCCCCACACTAACC CAGCCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTA ACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(465): Show TGAGGAAGAGGGATGTGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGA TGTGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGG AGGGGGAGAGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGG GAGGGGAGAGGGAGAGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGAGGA GGGGGAGAGGAGGGGGAGGGGAGGGGGAGGGGGAGAGGACGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0008 a0008	a0008c0029 a0008c0029	a0008c0029t0011 a0008c0029t0011	a0008c0029t0011g0054 a0008c0029t0011g0054	1	126	0.0079	472	c.416 others(493): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC CCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCGTCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCT CCTCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCTCTCCCTCTCCCCTCC CCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCCTC CCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCACAT CCCCCTCACATCCCCCTCACATCCCTCTTCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(465): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGG GAGAGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGG GAGAGGGAGAGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGG AGAGGAGGGGGAGGGGAGGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGGGGAGGG GGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGG GAGGGGGAGGGTAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0032 a0032	a0032c0024 a0032c0024	a0032c0024t0077 a0032c0024t0077	a0032c0024t0077g0104 a0032c0024t0077g0104	1	126	0.0079	472	c.416 others(493): Show c.416-142659_416-142658insCCCCTCCCCCTACCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCC CCTCCCCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCGTCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCTCTC CCCCTCCTCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCTCTCCCTCTCC CCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCTCTCC CCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCACATCCCCCTCACATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(465): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	367	0.0027	472	c.-42 others(483): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DECR2_chr16_396885_417482	397733	T T	TGGGGGTG others(465): Show TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGCTGAGGGAGTCGGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	367	0.0027	472	c.-42 others(483): Show c.-4231_-4230insGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGGGGTG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4151		chr16	TogoVar
DGKD_chr2_233349494_233477098	233397118	G G	GGCCAGAG others(465): Show GGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCA GAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAG CGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGGTGTCAGA GTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGTG AGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGTGCCAGAGTG AGAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGG ACACCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACC AGAGGGGAGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGG GGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGA CCAGGGTGGCTGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02074.hp1 HG02165.hp1 others(2): Show HG01346.hp1 HG02074.hp1 HG02165.hp1 NA19010.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0269 a0001c0001t0001g0296 a0001c0001t0001g0307 others(2): Show a0001c0001t0001g0269 a0001c0001t0001g0296 a0001c0001t0001g0307 a0001c0001t0009g0087 a0001c0001t0009g0331	5	336	0.0149	472	c.348 others(489): Show c.348+6662_348+6663insGCAGGGTGGCTGGCAGAGGCCAGAGTGA GAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAG GACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGGTGTCAGAGTGAGA GGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGTGAGAGGA CTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGTGCCAGAGTGAGAGGA CTCCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGGACACCA GAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGG GAGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCA GGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGG TGGCTGGGGGGGGGGGTGCCAGAGTGAGAGGACACCAGAGGGGA	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233397118	G G	GGCCAGAG others(465): Show GGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCA GAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAG CGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGTGTCAGAG TGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGTGA GAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGGTGCCAGAGTG AGAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGG ACACCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACC AGAGGGGAGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGG GGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGA CCAGGGTGGCTGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01261.hp1 NA18948.hp2 others(6): Show HG01168.hp2 HG01261.hp1 NA18948.hp2 NA18950.hp2 NA18970.hp2 NA19002.hp1 NA19011.hp1 NA19056.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0001 a0001c0001t0032	a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0265 others(6): Show a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0265 a0001c0001t0001g0271 a0001c0001t0001g0280 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0305 a0001c0001t0032g0284	9	336	0.0268	472	c.348 others(489): Show c.348+6662_348+6663insGCAGGGTGGCTGGCAGAGGCCAGAGTGA GAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAG GACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGTGTCAGAGTGAGAG GACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGTGAGAGGAC TCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGGTGCCAGAGTGAGAGGA CTCCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGGACACCA GAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGG GAGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCA GGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGG TGGCTGGGGGGGGGGGTGCCAGAGTGAGAGGACACCAGAGGGGA	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233397118	G G	GGCCAGAG others(465): Show GGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCA GAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAG CGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGTGTCAGAG TGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGTGA GAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGTGCCAGAGTGA GAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGGA CACCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCA GAGGGGAGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGG GACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGAC CAGGGTGGCTGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01515.hp2 NA18945.hp1 others(5): Show HG00738.hp2 HG01515.hp2 NA18945.hp1 NA18945.hp2 NA18954.hp1 NA18984.hp2 NA19007.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0012 a0001c0001t0001 a0001c0001t0002 a0001c0002t0012	a0001c0001t0001g0251 a0001c0001t0001g0273 a0001c0001t0001g0286 others(5): Show a0001c0001t0001g0251 a0001c0001t0001g0273 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0329 a0001c0001t0002g0268 a0001c0001t0002g0281 a0001c0002t0012g0043	8	336	0.0238	472	c.348 others(489): Show c.348+6662_348+6663insGCAGGGTGGCTGGCAGAGGCCAGAGTGA GAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAG GACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGTGTCAGAGTGAGAG GACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGTGAGAGGAC TCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGTGCCAGAGTGAGAGGAC TCCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGGACACCAG AGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGG AGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAG GGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGT GGCTGGGGGGGGGGGGTGCCAGAGTGAGAGGACACCAGAGGGGA	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233397118	G G	GGCCAGAG others(465): Show GGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCA GAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAG CGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGTGTCAGAG TGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGTGA GAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGTGCCAGAGTGA GAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGGA CACCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCA GAGGGGAGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGG GACCAGGGTGGCTGCGGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGA CCAGGGTGGCTGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0293 a0001c0001t0011g0293	1	336	0.0030	472	c.348 others(489): Show c.348+6662_348+6663insGCAGGGTGGCTGGCAGAGGCCAGAGTGA GAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAG GACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGTGTCAGAGTGAGAG GACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGTGAGAGGAC TCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGTGCCAGAGTGAGAGGAC TCCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGGACACCAG AGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGG AGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAG GGTGGCTGCGGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGG TGGCTGGGGGGGGGGGTGCCAGAGTGAGAGGACACCAGAGGGGA	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIDO1_chr20_62872743_62931505	62875272	C C	CCACCCGC others(465): Show CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCCACCCCCACCCGCA CCCGCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACC CGCACCCCCACCCCCCACCCCCCACCCCCACCCCCACCCGCACCGGCACC CCCACCCGCACCGGCACCCCCACCCCCCACCCCCACCCCCACCCCCACCC CCACCCCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCC CACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCA CCCCCACCCGCACCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCC GCACCCTCACCCCCACCCCCACCCTCACCCCCACCCCCACCCGCACCCGC ACCCGCACCCCCACCCCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0029 a0029	a0029c0045 a0029c0045	a0029c0045t0001 a0029c0045t0001	a0029c0045t0001g0242 a0029c0045t0001g0242	1	320	0.0031	472	c.39 others(483): Show c.3960_*3961insAGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGG TGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGAGGGTGCGGGTGGGGGTG GGGGTGGGGGTGGGGGTGGGGGTGGGGTGCGGGTGGGGGTGGGGGTGGGG GTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGT GCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGGTGGGGGTGGGGGTG GGGGTGGGGGTGGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTGC GGGTGGGGGTGGGGGTGGGGGGTGGGGGGTGGGGGTGCGGGTGGGGGTGG GGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGG GTGGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2470		chr20	TogoVar
DPEP1_chr16_89608642_89643433	89634589	T T	TCCTTTCC others(465): Show TCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC TCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	250	0.0040	472	c.105 others(489): Show c.105-1304_105-1303insCCTTTCCCTTCCTTCCCTTTCCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC TCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634700	C C	CCCTTTCC others(465): Show CCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCCTTCCTTCTCCTTTCTCTTCCTTCCCTTTCCCCTTCCTTCTCCTT CCCATCCTTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC CTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCTTTCCCCCTT CCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	250	0.0040	472	c.105 others(489): Show c.105-1178_105-1177insCCTTTCCCTTCCTTCTCCTTTCCCCTTC CTTCTCCTTTCTCTTCCTTCCCTTTCCCCTTCCTTCTCCTTCCCATCCTT TCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCT CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCTTTCCCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCC TTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(465): Show ATATATATACTATATATATAGTATATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATATAGTGTATATATATAGTATATATATAGTGTATATATATAGTATATA TATAGTATATATATAGTATATATAGTATATATGTATATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATATAGTATATA TATAGTATATATATATAGTATATATATAGTATATATATATAGTATATATA TAGTATATATATAGTATATATATATAGTATATATATAGTATATATATAGT ATATATATATAGTATATATATAG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0109 a0001c0003t0009g0109	1	316	0.0032	472	c.355 others(491): Show c.355-25620_355-25619insCTATATATATAGTATATATATATAGT ATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAG TATATATATATAGTATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATATAGTGTATATATATAGTATATATATAGTGTA TATATATAGTATATATATAGTATATATATAGTATATATAGTATATATGTA TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATATAGTATATATATAGTATATATATAGTATATATATATAGTATATATA TAGTATATATATAGTATATATATATAGTATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DTD1_chr20_18583054_18771644	18675822	A A	ATATGTGT others(465): Show ATATGTGTAAATATACCTATGTGTATATTTACACATATATATGTAAATAT ACCTATGTGTATATTTACACATATATATGTAAATATACCTATGTGTATGT TTACACATATATATGTAAATATACCTATGTGTATGTTTACACATATATAT GTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATATAC CTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGT TTACACATATATGTAAATATACCTATGTGTATGTTTACACATATATGTAA ATATACCTATGTGTATGTTTACACATATATGTAAATATACCTATGTGTAT GTTTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT GTGTAAATATACCTATATGTTTACACATATATATGTGTAAATATACCTAT GTGTATGTTTACACATATATATG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0205 a0002c0002t0012g0205	1	398	0.0025	472	c.477 others(491): Show c.477+47590_477+47591insATGTGTAAATATACCTATGTGTATAT TTACACATATATATGTAAATATACCTATGTGTATATTTACACATATATAT GTAAATATACCTATGTGTATGTTTACACATATATATGTAAATATACCTAT GTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTAC ACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATATATGT GTAAATATACCTATGTGTATGTTTACACATATATGTAAATATACCTATGT GTATGTTTACACATATATGTAAATATACCTATGTGTATGTTTACACATAT ATGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCT ATGTGTATGTTTACACATATATGTGTAAATATACCTATATGTTTACACAT ATATATGTGTAAATATACCTATGTGTATGTTTACACATATATATGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
EPHA8_chr1_22558489_22608595	22599827	G G	GAAGGGGA others(465): Show GAAGGGGAGGGAAGAGGAGAGGAGGGGAGGGAAGGGAGGAAGGGAAGGAA GGAAGGAGGGAAGGAGGGAGGGAAGGGAGAGAAGGAGGGAGGGAGTGGGG GAGGAAGGAAGGAAGGGAGGGAAGGAGAGAAGGAACGAGGGAGGGAGTGG GGGAGGGAGGGAGGGAGGGAGGAAGGACAAGAAGGAAGGAGAGAAGGAGG AAAGGAGGGACGGAGGGAAGGAAGGAGGGAAGGGAGAGAAGGAGGGAGGG AGTGGAGGAGGAAGGAAGGGGGGATGGAGGGAGGAAGGAAGGGAGGGAGG GAGGAAGGAGAGAAGGAGGAAGGAAGGAGGGAAGGAGAGAAGGAAGGAGG AGGGAGGGAGGGAAGGAGGGAGGCAGGAAGGAAGGAAAGAAGGAGGGAAG GAAAGGAGGGAGGGAGGAAGGTGGGAGGGAAAGAAGAAAGGAGGGAAGGA AGGAGAAAGAAGAAAGGAAGGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG02258.hp2 others(8): Show HG00323.hp2 HG00621.hp1 HG02258.hp2 HG02451.hp2 HG02602.hp1 HG02735.hp2 HG03209.hp2 HG03688.hp1 NA18960.hp2 NA18979.hp2 NA18994.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0066 others(2): Show a0001c0001 a0001c0002 a0001c0066 a0004c0016 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0002t0008 a0001c0066t0019 a0004c0016t0003 a0004c0016t0008 a0005c0007t0003	a0001c0001t0001g0202 a0001c0001t0003g0186 a0001c0001t0003g0190 others(8): Show a0001c0001t0001g0202 a0001c0001t0003g0186 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0260 a0001c0001t0019g0261 a0001c0002t0008g0121 a0001c0066t0019g0047 a0004c0016t0003g0206 a0004c0016t0008g0130 a0005c0007t0003g0197	11	342	0.0322	472	c.238 others(489): Show c.2388+781_2388+782insAGGGGAGGGAAGAGGAGAGGAGGGGAGG GAAGGGAGGAAGGGAAGGAAGGAAGGAGGGAAGGAGGGAGGGAAGGGAGA GAAGGAGGGAGGGAGTGGGGGAGGAAGGAAGGAAGGGAGGGAAGGAGAGA AGGAACGAGGGAGGGAGTGGGGGAGGGAGGGAGGGAGGGAGGAAGGACAA GAAGGAAGGAGAGAAGGAGGAAAGGAGGGACGGAGGGAAGGAAGGAGGGA AGGGAGAGAAGGAGGGAGGGAGTGGAGGAGGAAGGAAGGGGGGATGGAGG GAGGAAGGAAGGGAGGGAGGGAGGAAGGAGAGAAGGAGGAAGGAAGGAGG GAAGGAGAGAAGGAAGGAGGAGGGAGGGAGGGAAGGAGGGAGGCAGGAAG GAAGGAAAGAAGGAGGGAAGGAAAGGAGGGAGGGAGGAAGGTGGGAGGGA AAGAAGAAAGGAGGGAAGGAAGGAGAAAGAAGAAAGGAAGGGAA	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT17_chr7_71127144_71718599	71680620	C C	CTTCCTCC others(465): Show CTTCCTCCCTCCCTCTCTCCCTTCCCCCTCCCTCTCTTCCTCCCTCCCTC TCTCCCTTCCTCCCTCCCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCTCCCTCCCTCTCTCCCTT CCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCTCCCTCCCTCTC TTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTC CCTCTCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCC TCCCTCCCTTTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCTCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCC TCTCTCCCTTCCTCCCTCCCTTTCTTCCTCCCTCCCTCTCTCCCTCCCTC CCTCTCTCCCTTCCTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	76	0.0132	472	c.150 others(491): Show c.1500+3315_1500+3316insTCCTCCCTCCCTCTCTCCCTTCCCCC TCCCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCTC CCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTC TTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTC CCTCTCTTCCTCCCTCCCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCTCCCTCCCTCTCTCTCTT CCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTTTCTTCCTCCCTCCCTCTC TCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCTCCCTC CCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTTTCTTCC TCCCTCCCTCTCTCCCTCCCTCCCTCTCTCCCTTCCTCCCTTCCTT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALR1_chr18_77244848_77282900	77248111	T T	TGTGGGTT others(465): Show TGTGGGTTTTTATTTTTTATTTTTTATTTTTTATTTTTTATTTATTTTTT TAAAAAAATTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACA TTGTGCAGGTTAGTTACATATGTATATATGTGCCATGCTGGTGCGCTGCA CCCACCAACGTGTCATCTATCATTAGGTATATCTCCCACTGCTATCCCTC CCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCTCTTCC TGTGCCCTTGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATG CGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTC CAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGG CTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCT ATCATTGTTGGACATTTGGGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0048 a0001c0004t0048	a0001c0004t0048g0325 a0001c0004t0048g0325	1	366	0.0027	472	c.-24 others(483): Show c.-2438_-2437insGTGGGTTTTTATTTTTTATTTTTTATTTTTTATT TTTTATTTATTTTTTTAAAAAAATTTTTTTTTATTATACTTTAAGTTTTA GGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATATATGTGCCA TGCTGGTGCGCTGCACCCACCAACGTGTCATCTATCATTAGGTATATCTC CCACTGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTG TGATATTCCTCTTCCTGTGCCCTTGTGATCTCATTGTTCAATTCCCACCT ATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACT GAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACT CATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATT TTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		1736		chr18	TogoVar
GALR1_chr18_77244848_77282900	77248111	T T	TGTGGGTT others(465): Show TGTGGGTTTTTATTTTTTATTTTTTATTTTTTATTTTTTATTTATTTTTT TTAAAAAATTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACA TTGTGCAGGTTAGTTACATATGTATATATGTGCCATGCTGGTGCGCTGCA CCCACCAACGTGTCATCTATCATTAGGTATATCTCCCACTGCTATCCCTC CCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCTCTTCC TGTGCCCTTGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATG CGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTC CAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGG CTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCT ATCATTGTTGGACATTTGGGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02717.hp1 HG01243.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0052 a0001c0004t0052	a0001c0004t0052g0323 a0001c0004t0052g0324 a0001c0004t0052g0323 a0001c0004t0052g0324	2	366	0.0055	472	c.-24 others(483): Show c.-2438_-2437insGTGGGTTTTTATTTTTTATTTTTTATTTTTTATT TTTTATTTATTTTTTTTAAAAAATTTTTTTTTATTATACTTTAAGTTTTA GGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATATATGTGCCA TGCTGGTGCGCTGCACCCACCAACGTGTCATCTATCATTAGGTATATCTC CCACTGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTG TGATATTCCTCTTCCTGTGCCCTTGTGATCTCATTGTTCAATTCCCACCT ATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACT GAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACT CATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATT TTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		1736		chr18	TogoVar
GALR1_chr18_77244848_77282900	77248111	T T	TGTGGGTT others(465): Show TGTGGGTTTTTATTTTTTATTTTTTATTTTTTATTTTTTATTTATTTTTT TTTAAAATTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACA TTGTGCAGGTTAGTTACATATGTATATATGTGCCATGCTGGTGCGCTGCA CCCACCAACGTGTCATCTATCATTAGGTATATCTCCCACTGCTATCCCTC CCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCTCTTCC TGTGCCCTTGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATG CGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTC CAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGG CTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCT ATCATTGTTGGACATTTGGGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02630.hp1 HG03098.hp2 HG02451.hp2 HG02630.hp1 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0028 a0001c0004t0048 a0001c0004t0028 a0001c0004t0048	a0001c0004t0028g0320 a0001c0004t0028g0321 a0001c0004t0048g0322 a0001c0004t0028g0320 a0001c0004t0028g0321 a0001c0004t0048g0322	3	366	0.0082	472	c.-24 others(483): Show c.-2438_-2437insGTGGGTTTTTATTTTTTATTTTTTATTTTTTATT TTTTATTTATTTTTTTTTAAAATTTTTTTTTTATTATACTTTAAGTTTTA GGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATATATGTGCCA TGCTGGTGCGCTGCACCCACCAACGTGTCATCTATCATTAGGTATATCTC CCACTGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTG TGATATTCCTCTTCCTGTGCCCTTGTGATCTCATTGTTCAATTCCCACCT ATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACT GAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACT CATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATT TTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		1736		chr18	TogoVar
GMEB2_chr20_63582605_63632101	63607574	C C	CCACATCC others(465): Show CCACATCCATTTCTAGAAACATGCCCCTGTGACCTCACCTCCATTTCTAG AAACATGCCCCTGTGACCCCACATCCATTTCTAGAAACATGCCCCTGACC CCACATCCATTTCTAGAAACAGGCCCCTCTGACCCACACCTCCATTTCTA GAAACATGCCCCTCTGACCCCACATCCATTTCTAGAAACATGCCCCTTTG ACCCACCTCCATTTCTAGAAACATGCCCCTCTGACCCCACCTCCATTTCT AGAAACATGCCCCTCTGACCCCACATCCATTTCTAGAAACATGTCCCTCT GACCCCACATCCATTTCTAGAAACATGCCCCTCTGACCCACCTCCATTTC TAGAAACATGCCCCTCTGACCCACCTCCATTTCTAGAAACATGCCCCTCT GACCCCACATCCATTTCTAGAAACATGCCCCTCTGACCCCACCTCCATTT CTAGAAACATGCCCCTGTGACCT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	330	0.0030	472	c.132 others(489): Show c.132-2735_132-2734insAGGTCACAGGGGCATGTTTCTAGAAATG GAGGTGGGGTCAGAGGGGCATGTTTCTAGAAATGGATGTGGGGTCAGAGG GGCATGTTTCTAGAAATGGAGGTGGGTCAGAGGGGCATGTTTCTAGAAAT GGAGGTGGGTCAGAGGGGCATGTTTCTAGAAATGGATGTGGGGTCAGAGG GACATGTTTCTAGAAATGGATGTGGGGTCAGAGGGGCATGTTTCTAGAAA TGGAGGTGGGGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGGGTCAAAG GGGCATGTTTCTAGAAATGGATGTGGGGTCAGAGGGGCATGTTTCTAGAA ATGGAGGTGTGGGTCAGAGGGGCCTGTTTCTAGAAATGGATGTGGGGTCA GGGGCATGTTTCTAGAAATGGATGTGGGGTCACAGGGGCATGTTTCTAGA AATGGAGGTGAGGTCACAGGGGCATGTTTCTAGAAATGGATGTG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(465): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATAGAAATAAATATAAATATATATATTTATATGTATATAT ATAAATATATATATTTATATATATATATTTTATACATATAAATATATATT ATAAATATATATTATAAATATATATTTATACATATAAATATATATTATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTTATATAT ATAAATATATATATTTATATATATAAATATATATATTTATATTTATTTAT ATATATATAAATATATATATTTATATATAAATATATATATTTATATTTAT TTCTATATATAAATATATATATTTATATATAAATATATATATTTATATAT ATAAATATATATATTTATATTTATAAATATATATATTTATATATATTTAT ATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0002 a0005c0015t0002	a0005c0015t0002g0164 a0005c0015t0002g0164	1	208	0.0048	472	c.-97 others(489): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATAGAAATAAATATAAATATATATATTTATATGTAT ATATATAAATATATATATTTATATATATATATTTTATACATATAAATATA TATTATAAATATATATTATAAATATATATTTATACATATAAATATATATT ATAAATATATATATTTATATTTATTTATATATATAAATATATATATTTAT ATATATAAATATATATATTTATATATATAAATATATATATTTATATTTAT TTATATATATATAAATATATATATTTATATATAAATATATATATTTATAT TTATTTCTATATATAAATATATATATTTATATATAAATATATATATTTAT ATATATAAATATATATATTTATATTTATAAATATATATATTTATATATAT TTATATTTATATATATTTATATATATTTATATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar

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