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
NOTCH1_chr9_136489433_136551048	136528443	G G	GGGGGGAT others(276): Show GGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACAGTGAGGG GGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGCGATGGGCA GGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGT GGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGG GATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGG CAGGGACAGTGCGGGGGATGGGCAGGGACAGTGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19030.hp2 HG03041.hp2 NA19030.hp2	a0001 a0023 a0001 a0023	a0001c0006 a0023c0045 a0001c0006 a0023c0045	a0001c0006t0004 a0023c0045t0002 a0001c0006t0004 a0023c0045t0002	a0001c0006t0004g0031 a0023c0045t0002g0037 a0001c0006t0004g0031 a0023c0045t0002g0037	2	324	0.0062	283	c.141 others(300): Show c.141-4465_141-4464insTCACTGTCCCTGCCCATCCCCCGCACTG TCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTG CCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATC CCCCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATCCCCCTCAC TGTCCCTGCCCATCGCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGC CCATCCCCCTCACTGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCAT CCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOX4_chr11_89319353_89496375	89463708	C C	CCAGTTAG others(276): Show CCAGTTAGGTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC CGGATTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0166 a0001c0001t0019g0166	1	288	0.0035	283	c.154 others(302): Show c.154-11814_154-11813insATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGTGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAATCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATAAC CTAACTG	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	2/17			chr11	TogoVar
NPHP4_chr1_5857811_5997425	5874228	T T	TAAAGAAA others(276): Show TAAAGAAAATTAGGTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCTGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCAACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp2 HG02451.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0052 a0001c0003t0001g0065 a0001c0003t0001g0052 a0001c0003t0001g0065	2	208	0.0096	283	c.323 others(300): Show c.3231+242_3231+243insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC AGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAACCTAATTT TCTTT	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	22/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5874228	T T	TAAAGAAA others(276): Show TAAAGAAAATTAGGTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCTGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01071.hp1 others(10): Show HG00140.hp2 HG00639.hp2 HG01071.hp1 HG01081.hp1 HG01123.hp1 HG02083.hp2 HG02258.hp1 HG02735.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp1 HG04184.hp2 NA18960.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0030 a0001c0002 a0001c0003 a0001c0030	a0001c0002t0001 a0001c0003t0001 a0001c0030t0001 a0001c0002t0001 a0001c0003t0001 a0001c0030t0001	a0001c0002t0001g0090 a0001c0003t0001g0021 a0001c0003t0001g0053 others(10): Show a0001c0002t0001g0090 a0001c0003t0001g0021 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0061 a0001c0003t0001g0064 a0001c0003t0001g0066 a0001c0003t0001g0068 a0001c0003t0001g0133 a0001c0003t0001g0193 a0001c0030t0001g0062	13	208	0.0625	283	c.323 others(300): Show c.3231+242_3231+243insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC AGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAACCTAATTT TCTTT	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	22/29			chr1	TogoVar
NRCAM_chr7_108142649_108461436	108299110	A A	AGAAAGAA others(276): Show AGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0153 a0002c0005t0003g0153	1	208	0.0048	283	c.-10 others(304): Show c.-107+13554_-107+13555insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTCTTT CTTTCTTTC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NRXN2_chr11_64601174_64728197	64706110	A A	ATATATAT others(276): Show ATATATATAATATATATAATATATATTATATATATTATATATATACTTTA TATATATAATATATATAATATATATTATATATATAAAGTATATATATAAT ATATATAATATATATTATATATAAAGTATATATATAATATATATAATATA TATTATATATAAAGTATATATATAATATATATAATATATATTATATATAT AAAGTATATATATAATATATATAATATATATTATATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0020 a0020	a0020c0030 a0020c0030	a0020c0030t0003 a0020c0030t0003	a0020c0030t0003g0242 a0020c0030t0003g0242	1	308	0.0033	283	c.730 others(300): Show c.730+6859_730+6860insCTTTATATATATAATATATATTATATAT ATTATATATATACTTTATATATATAATATATATTATATATATTATATATA TACTTTATATATATAATATATATTATATATATTATATATATACTTTATAT ATAATATATATTATATATATTATATATATACTTTATATATAATATATATT ATATATATTATATATATACTTTATATATATAATATATATTATATATATTA TATATATAAAGTATATATATAATATATATAATATATATTATATATATTAT ATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCTCCCCA others(276): Show TCTCCCCAGAGTGGATTTCTCTTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCC CTTCCCTCTCCCCTTCCCCTCCCCCTCCCCCTTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0232 a0001c0001t0007g0232	1	326	0.0031	283	c.433 others(300): Show c.433+1023_433+1024insGAAGGGGGAGGGGGAGGGGAAGGGGAGA GGGAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAAGAGAAATCCACTCTG GGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	949673	C C	CCCCCTGC others(276): Show CCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCG GCCTCCTCCTCTCCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCTCCCCGCGGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCTCCCC GCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	242	0.0041	283	c.360 others(302): Show c.360+29645_360+29646insAGAGGAGGAGGCCGGGGGGAGAGGAG GAGGCCGCGGGGAGAGGAGGAGGCAGCGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGCGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGGAGAG GAGGAGGCCGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGG GGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAG GCAGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OBI1_chr13_78609289_78664155	78659323	A A	AAGAAAGA others(276): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAAGAAAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	296	0.0034	283	c.-20 others(292): Show c.-204_-203insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTTTCTTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		169		chr13	TogoVar
OBI1_chr13_78609289_78664155	78659327	A A	AGAAAGAA others(276): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGAAAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	296	0.0034	283	c.-20 others(292): Show c.-208_-207insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTTTCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		173		chr13	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(276): Show AGGGAAGGGAAGAGGGGGGGGAAAGGGAAGGGGAGGGGAGGGGAGGGGGG AGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAG GGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGA GGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGGGAGGGG GAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAAGGAAGGGAAGGGGAGGGAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	302	0.0033	283	c.155 others(300): Show c.1551+378_1551+379insCTTCCCTCCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCC CTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCTTTCCCCCCCCTCTTCCC TTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(276): Show TCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCT CCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTC CCCTCCCCTCCACTCCCCTTCCCCTCCCCTTCCCCTCCCCTCCACTCCCC TTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTC CCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01123.hp2 HG01175.hp1 others(1): Show HG01074.hp2 HG01123.hp2 HG01175.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0084 others(1): Show a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0250	4	308	0.0130	283	c.226 others(302): Show c.2262+7531_2262+7532insCTCCTCCCCTCCCCCTCCTCCCCCTC CTCCCCTCCCCCTCCTCCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCTCCCCCTCCCCTCCCCCTC CCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTTCCC CTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTC CACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDE7B_chr6_135846701_136200574	136045901	T T	TAGAATTT others(276): Show TAGAATTTGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01496.hp1 HG02083.hp2 others(2): Show HG01175.hp2 HG01496.hp1 HG02083.hp2 NA18982.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012	a0001c0001t0001g0058 a0001c0001t0001g0072 a0001c0001t0003g0048 others(2): Show a0001c0001t0001g0058 a0001c0001t0001g0072 a0001c0001t0003g0048 a0001c0001t0008g0075 a0001c0001t0012g0110	5	142	0.0352	283	c.83- others(300): Show c.83-62823_83-62822insGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG AATTT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PEX5_chr12_7184686_7216459	7203222	T T	TAGACTAG others(276): Show TAGACTAGACTAGATGACTAGACTAGACTCTAGACTAGACACTAGACTAG ACTAGACACTAGACTAGACTAGACACTAGACTAGACTATAGACTAGACAC TAGACTAGACACTAGACTAGACACTAGACTAGACACTAGACTAGACTATA GACTAGACACTAGACTAGACACTAGACTAGACTATAGACTAGACTATAGA CTAGACTATAGACTAGACTATACTACACTACACTACACTACACTACACTA CACTACACTACACTAACTAAACACACAACACTAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02895.hp1 HG02896.hp2 others(3): Show HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03486.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0007 a0001c0001t0007 a0002c0002t0007	a0001c0001t0007g0028 a0001c0001t0007g0163 a0001c0001t0007g0165 others(2): Show a0001c0001t0007g0028 a0001c0001t0007g0163 a0001c0001t0007g0165 a0001c0001t0007g0209 a0002c0002t0007g0325	6	428	0.0140	283	c.847 others(298): Show c.847-209_847-208insGACTAGACTAGATGACTAGACTAGACTCTA GACTAGACACTAGACTAGACTAGACACTAGACTAGACTAGACACTAGACT AGACTATAGACTAGACACTAGACTAGACACTAGACTAGACACTAGACTAG ACACTAGACTAGACTATAGACTAGACACTAGACTAGACACTAGACTAGAC TATAGACTAGACTATAGACTAGACTATAGACTAGACTATACTACACTACA CTACACTACACTACACTACACTACACTACACTAACTAAACACACAACACT AAA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAP6_chr16_365788_386978	370259	G G	GCCGGCAC others(276): Show GCCGGCACTCACCCCCTACCCCGGCCCCCGACTCTCACCCGCTACCCCCC CGGCTCCCCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGCTCTCACCCCCCTACCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	1	376	0.0027	283	c.17 others(294): Show c.1727_*1728insGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCCGGGGTAGGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGGGGAGCCG GGGGGGTAGCGGGTGAGAGTCGGGGGCCGGGGTAGGGGGTGAGTGCCGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		528		chr16	TogoVar
PIAS4_chr19_4002736_4044386	4011735	G G	GGTGTGTG others(276): Show GGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0023 a0001c0005t0023	a0001c0005t0023g0243 a0001c0005t0023g0243	1	334	0.0030	283	c.28- others(298): Show c.28-1165_28-1164insTTGGTGTGGAGCTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTTTGGTGTGGAAGTGTGTGGGGTGTGGAGGTG TGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIMREG_chr17_6439455_6456469	6455750	A A	AGGGGAGG others(276): Show AGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAA GAGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGG GGAAGGAGGGGAAGGGAGGGGAAGGGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	312	0.0032	283	c.54 others(294): Show c.5403_*5404insGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGG GGAGGGGAGGGGGAAGAGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGA GGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGAGGG GAGGGGGAAGAGGGGAAGGGAGGGGAGGGGAAGAGGGGAAGGGGGGAGGG GAGAGGAGGGAAGGGGGAAGGAGGGGAAGGGAGGGGAAGGGGGAGGGAG	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4282		chr17	TogoVar
PKP3_chr11_389209_409908	401147	A A	ACCCGCCC others(276): Show ACCCGCCCCGCTCACCCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACAC CCGCCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGC CCCGCTCACCCCCGGCCCCGCTCACCCCCCGGCCCCGCTCACACCCGCCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTC ACCCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC ACCCGCCCCGCTCACCCCCCGGCCCCGCTCACCC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	216	0.0046	283	c.173 others(300): Show c.1737+444_1737+445insCGCCCCGCTCACCCCCCGGCCCCGCTCA CCCCCGGCCCCGCTCACACCCGCCCCCGCTCACACCCGCCCCGCTCACCC CCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCCG GCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC GCTCACACCCGCCCCGCTCACCCCCCGGCCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCCGGCCCCGCTCA CCCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(276): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATATATTTATATATAATATATATTATAT ATAAAAATATATTTATATATATTATATTATATATAATATATTATATATAT TATATTATATATAATATATTATATATATTATATATAAATAATTATATATA TTATATATAATATATTATATATATTATATTATATATAATATATTATATAT ATTATATTATATATAATATATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	286	0.0035	283	c.-50 others(294): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATATATAATTATTTATATATAATATATATAATATATTATATATAATATA ATATATATAATATATTATATATAATATAATATATATAAATATATTTTTAT ATATAATATATATTATATATAAATATATATTATATATAATATATATTATA TTATATATAATATATTTTTATATAAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PPP1R9A_chr7_94902594_95301400	95248186	T T	TTAAAAAT others(276): Show TTAAAAATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCGCCCGCCTCGGCCTCCCAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0081 a0002c0001t0007g0081	1	290	0.0035	283	c.216 others(300): Show c.2166+671_2166+672insATATTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAATAAAAA TATAT	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
RAB11FIP3_chr16_420649_528011	504279	C C	CTCCCATC others(276): Show CTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCCACCTCC TGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCT CACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTGTAC CCCCTCACCTCCTCCTGTACCCCCCCACCTCCTCCTGTACCCCCTCACCT CCTCTTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGTACCC CCTCACCTCCTGTACCCCCTCACCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0021 a0001c0001t0025g0021	1	295	0.0034	283	c.139 others(302): Show c.1395+1182_1395+1183insTCCCATCTCCTCCTGTACCCCCTCAC CTCCTTGTGCACCCCCCACCTCCTGTACCCCCTCACCTCCTCCTGTACCC CCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCTC CTGTACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCCA CCTCCTCCTGTACCCCCTCACCTCCTCTTGCACTCCCATCTCCTCCTGTA CCCCCTCACCTCCTTGTGTACCCCCTCACCTCCTGTACCCCCTCACCTCC TCCTGTA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13			chr16	TogoVar
RABL3_chr3_120679938_120747516	120706613	A A	ACAATTGC others(276): Show ACAATTGCTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCACC	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19240.hp1 HG02723.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0004 a0003c0002t0004 a0001c0001t0004 a0003c0002t0004	a0001c0001t0004g0178 a0003c0002t0004g0245 a0001c0001t0004g0178 a0003c0002t0004g0245	2	354	0.0057	283	c.269 others(298): Show c.269-500_269-499insGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATAGCAA TTG	RABL3	ENSG00000144840.10	transcript	ENST00000273375.8	protein_coding	3/7			chr3	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(276): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCC GTCCCCATCCCCCGTCCCCCATCCCCATCCCCCGTCCCCATCCCCCATCC CCCGTCCCCCGTCCCCCGTCCCCATCCCCCGTCCCCCATCCCCATCCCCC GTCCCCCGTCCCCCATCTTCTGTCCCCCGTCCCCCACCCCCCGCCCCCCA TCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTC CCCCGTCCCCCATCCCCCGTCCCCATCCCCCACC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02647.hp2 others(5): Show HG02280.hp2 HG02572.hp1 HG02647.hp2 HG03453.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0001g0213 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0001g0213 a0001c0001t0001g0225	8	452	0.0177	283	c.757 others(298): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCCGTCCCCATCCCCCGTCCCCCATCCCCATCCCCCGT CCCCATCCCCCATCCCCCGTCCCCCGTCCCCCGTCCCCATCCCCCGTCCC CCATCCCCATCCCCCGTCCCCCGTCCCCCATCTTCTGTCCCCCGTCCCCC ACCCCCCGCCCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGT CCCCCATCTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACCC CCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RNF17_chr13_24759169_24884921	24882027	G G	GATACATC others(276): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	426	0.0024	283	c.23 others(294): Show c.2301_*2302insATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2107		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882027	G G	GATACATC others(276): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	426	0.0024	283	c.23 others(294): Show c.2301_*2302insATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2107		chr13	TogoVar
RNF8_chr6_37348983_37399734	37364261	T T	TAAAACCA others(276): Show TAAAACCAGGCTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0150 a0001c0001t0015g0150	1	324	0.0031	283	c.240 others(300): Show c.240+3697_240+3698insTTGGGAGGCCGAGGCGGGTGGATCATGA GGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCTGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC CAGGC	RNF8	ENSG00000112130.17	transcript	ENST00000373479.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNGTT_chr6_88604897_88968618	88947783	C C	CAGCCGCC others(276): Show CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTTGGCCCCCCGCCCGGCC AGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCAG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	220	0.0046	283	c.65- others(298): Show c.65-6604_65-6603insTGGCCGGGCGGGGGGGCTGACCCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCTGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCG GCT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	1/15			chr6	TogoVar
RPH3AL_chr17_207389_357807	304948	A A	AGAGGGGG others(276): Show AGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAG AGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGG ACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACA GGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGG GCGAGAGGGGACAGGGCGAGAGGGGACAGGGCGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0064 a0001c0003t0036g0064	1	133	0.0075	283	c.351 others(302): Show c.351+14471_351+14472insCCGCCCTGTCCCCTCTCGCCCTGTCC CCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCC TCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCC CGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGC CCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCT GTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGT CCCCCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RTN1_chr14_59590983_59875776	59750565	T T	TATATATA others(276): Show TATATATATATCTATAATATATAATATATCTATAATATATAATATATCTA TAATATATATATTATAGATATAATATATAATATATTATATATATAATATA TAATATATTATATATAATATATTATATATTATATCTATAATATATAATAT ATTATATATAATATATTATATATTATATCTATAATATATAATATATTATA TATAATATATTATATATTATATCTATAATATATAATATATTATATCTATA ATATATTATATGTAATATATATGTTATATCTATA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	172	0.0058	283	c.242 others(300): Show c.242-4085_242-4084insTATAGATATAACATATATATTACATATA ATATATTATAGATATAATATATTATATATTATAGATATAATATATAATAT ATTATATATAATATATTATATATTATAGATATAATATATAATATATTATA TATAATATATTATATATTATAGATATAATATATAATATATTATATATAAT ATATTATATATTATATATATAATATATTATATATTATATCTATAATATAT ATATTATAGATATATTATATATTATAGATATATTATATATTATAGATATA TATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
SARDH_chr9_133658560_133743352	133668865	C C	CCCTCACC others(276): Show CCCTCACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCAC CCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCTCCCTCTCCC CTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTCTCCC TCACCCTCCCTCTCCCCTTACCCTCCCTCTTCCCTTACCCTCCCCCCTCC CTCTCCCTCACCTTCCCTCACCCCTACCCTCCTCTCCCTCACCCTCCCTC TCCCACACCCTCCATCTCCCCTCACCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0004 a0003c0012t0004	a0003c0012t0004g0051 a0003c0012t0004g0051	1	262	0.0038	283	c.249 others(302): Show c.2495+1718_2495+1719insAGAGGGAGGGTGAGGGGAGATGGAGG GTGTGGGAGAGGGAGGGTGAGGGAGAGGAGGGTAGGGGTGAGGGAAGGTG AGGGAGAGGGAGGGGGGAGGGTAAGGGAAGAGGGAGGGTAAGGGGAGAGG GAGGGTGAGGGAGAGGGAGGATGAGGGGAGAGGGAGGGTGAGGGAGAGGG AGGGTGAGGGGAGAGGGAGGTGAGGGAGAGGGAGGGTGAGGGGAGAGGGA GGGTGAGGGTGAGGGAGGGTGAGGGGAGATGGAGGGTGAGGGAGAGGGAG GGTGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668865	C C	CCCTCACC others(276): Show CCCTCACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTC CCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCTCCCTCTCCC CTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTCTCCC TCACCCTCCCTCTCCCCTTACCCTCCCTCTTCCCTTACCCTCCCCCTCCC TCTCCCTCACCTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCTC TCCCTCACCCTCCATCTCCCCTCACCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00639.hp2 others(18): Show HG00099.hp1 HG00280.hp1 HG00639.hp2 HG00738.hp1 HG01346.hp2 HG01891.hp1 HG01981.hp2 HG02040.hp1 HG02257.hp1 HG02280.hp2 HG02293.hp2 HG02809.hp2 HG03139.hp2 HG03239.hp2 HG03486.hp1 HG04228.hp1 NA18906.hp2 NA18971.hp1 NA18983.hp1 NA19012.hp2 NA19065.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0011 others(8): Show a0001c0001 a0001c0006 a0001c0011 a0001c0033 a0001c0049 a0002c0004 a0002c0005 a0002c0020 a0002c0034 a0003c0002 a0003c0012	a0001c0001t0003 a0001c0006t0003 a0001c0011t0003 others(9): Show a0001c0001t0003 a0001c0006t0003 a0001c0011t0003 a0001c0033t0001 a0001c0049t0002 a0002c0004t0003 a0002c0004t0004 a0002c0005t0003 a0002c0020t0004 a0002c0034t0003 a0003c0002t0003 a0003c0012t0004	a0001c0001t0003g0164 a0001c0006t0003g0149 a0001c0006t0003g0153 others(18): Show a0001c0001t0003g0164 a0001c0006t0003g0149 a0001c0006t0003g0153 a0001c0011t0003g0097 a0001c0011t0003g0098 a0001c0011t0003g0106 a0001c0033t0001g0146 a0001c0049t0002g0244 a0002c0004t0003g0046 a0002c0004t0003g0129 a0002c0004t0004g0210 a0002c0004t0004g0219 a0002c0004t0004g0220 a0002c0005t0003g0092 a0002c0005t0003g0094 a0002c0005t0003g0096 a0002c0005t0003g0130 a0002c0020t0004g0016 a0002c0034t0003g0154 a0003c0002t0003g0048 a0003c0012t0004g0050	21	262	0.0802	283	c.249 others(302): Show c.2495+1718_2495+1719insAGAGGGAGGGTGAGGGGAGATGGAGG GTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTAGGGGAGAGGGAAGGT GAGGGAGAGGGAGGGGGAGGGTAAGGGAAGAGGGAGGGTAAGGGGAGAGG GAGGGTGAGGGAGAGGGAGGATGAGGGGAGAGGGAGGGTGAGGGAGAGGG AGGGTGAGGGGAGAGGGAGGTGAGGGAGAGGGAGGGTGAGGGGAGAGGGA GGGTGAGGGAGAGGGAGGGTGAGGGGAGATGGAGGGTGAGGGAGAGGGAG GGTGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(276): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGGAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGGAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp2 HG02895.hp2 others(1): Show HG02258.hp2 HG02809.hp2 HG02895.hp2 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0013 a0001c0001 a0001c0003 a0002c0013	a0001c0001t0001 a0001c0003t0009 a0001c0003t0040 others(1): Show a0001c0001t0001 a0001c0003t0009 a0001c0003t0040 a0002c0013t0011	a0001c0001t0001g0194 a0001c0003t0009g0036 a0001c0003t0040g0030 others(1): Show a0001c0001t0001g0194 a0001c0003t0009g0036 a0001c0003t0040g0030 a0002c0013t0011g0257	4	314	0.0127	283	c.916 others(300): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT TCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTC CTTTTCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCC TTTCTTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTT CTCTTCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTT CCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1289035	C C	CCGTGTCT others(276): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0015 a0002c0003t0002g0015	1	290	0.0035	283	c.166 others(301): Show c.1662+999_1662+1000insGTGTCTCTGCCCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCG TGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339682	T T	TGCCCCCA others(276): Show TGCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCC CCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCC CACAAGCATAGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCAC AAGCATCGCTCCAACCCTCCCCTACTCTCCTCACTATCCCCCCACAAGCA TCACTCCAACCCTCCCCTACTCTCCTCATTCTACCCCCCCCAAGCATAGC TCCAACCCTCCCCCCACTCTCCTCATTCTACCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0065 a0001c0040t0065	a0001c0040t0065g0129 a0001c0040t0065g0129	1	280	0.0036	283	c.89- others(296): Show c.89-448_89-447insGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTG GAGCTATGCTTGGGGGGGGTAGAATGAGGAGAGTAGGGGAGGGTTGGAGT GATGCTTGTGGGGGGATAGTGAGGAGAGTAGGGGAGGGTTGGAGCGATGC TTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCTATGCTTG TGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGG GGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGG C	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339818	T T	TTCTATCC others(276): Show TTCTATCCCCCCACAAGCATCGCTCCAACCCTCCCCTACTCTCCTCACTC TATCCCCCCACAAGCATCACTCCAGCCCTCCCCTACTCTCCTCACTATCC CCCCACAAGCATCACTCCAACCCTCCCCTACTCTCCTCATTCTACCCCCC CCAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCC ACAAGCACTGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCAC AAGCATTGCTCCAACCCTCCCCTACTCTCCTCAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp1 NA21309.hp1 HG02615.hp2 HG02818.hp1 NA21309.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0019 a0002c0002 a0011c0060 a0001c0019 a0002c0002 a0011c0060	a0001c0019t0008 a0002c0002t0002 a0011c0060t0004 a0001c0019t0008 a0002c0002t0002 a0011c0060t0004	a0001c0019t0008g0264 a0002c0002t0002g0265 a0011c0060t0004g0263 a0001c0019t0008g0264 a0002c0002t0002g0265 a0011c0060t0004g0263	3	280	0.0107	283	c.89- others(296): Show c.89-584_89-583insGTGAGGAGAGTAGGGGAGGGTTGGAGCAATGC TTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCAGTGCTT GTGGGGGGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTT GGGGGGGGTAGAATGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGG GGGGATAGTGAGGAGAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGA TAGAGTGAGGAGAGTAGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAG A	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SFMBT2_chr10_7153624_7416034	7378215	T T	TGGATGGA others(276): Show TGGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGG TGATGGATGGGTGTGAGTGTGGGTGTGTGGGGGTGTATGTGTGGATGGGT GGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGT GATGGATGGGTGTGAGTGTGGGTGTGTGGGGGTGTATGTGTGGATGGGTG TGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTGGATGGGTGTGAG TGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02572.hp1 others(1): Show HG02109.hp2 HG02257.hp2 HG02572.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0036 a0001c0001t0005 a0001c0001t0036	a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0111 others(1): Show a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0036g0019	4	144	0.0278	283	c.100 others(300): Show c.100+3583_100+3584insCACCCATCCACACATACACCCACACACA CCCACACTCACACCCATCCACCCATCCACACATACACCCACACACACCCA CACTCACACCCATCCACACATACACCCCCACACACCCACACTCACACCCA TCCATCACCCATCCACACATACACCCACACACACCCACACTCACACCCAT CCATCCACCCATCCACACATACACCCCCACACACCCACACTCACACCCAT CCATCACCCATCCACACATACACCCACACACACCCACACTCACACCCATC CATCC	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	2/20			chr10	TogoVar
SIGIRR_chr11_400716_419999	411273	G G	GGGGCGGG others(276): Show GGGGCGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGGGG TGCTCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGTGGTGCCCAGC TCTGACCATGTCTGGATACAGTCGGGGGGGGGGGTGCCCAGCTCTGACCA TGTCTGGATGCAGTCGGGGGGGGGTGCTCAGCTCTGACCATGTCTGGATG CAGTCGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGG AGGTGCCCAGCTCTGACCATGTCTGGATACAGTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	242	0.0041	283	c.-15 others(302): Show c.-153-1247_-153-1246insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCCCCCCGACTGCA TCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCCGACTGTATCCAGACA TGGTCAGAGCTGGGCACCACCCCCCCCGACTGTATCCAGACATGGTCAGA GCTGAGCACCCCTCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACC CCCGCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	412007	G G	GGGGGGGG others(276): Show GGGGGGGGGTGCCCAGCTCTGAACATGTCTGGATACAGTCGGGGAGGGGT GCTCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGGTGCCCAGCTC TGACCATGTCTGGATGCAGTCGGGGGGGGGTGCTCAGCTCTGACCATGTC TGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTC GGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGG GGGTGCCCAGCTCTGACCATGTCTGGATGCAGTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03516.hp2 HG03225.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0231 a0001c0003t0001g0232 a0001c0003t0001g0231 a0001c0003t0001g0232	2	242	0.0083	283	c.-15 others(302): Show c.-153-1981_-153-1980insGACTGCATCCAGACATGGTCAGAGCT GGGCACCCCCCCCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCAC CTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCCCCCGAC TGCATCCAGACATGGTCAGAGCTGAGCACCCCCCCCCGACTGCATCCAGA CATGGTCAGAGCTGGGCACCCCCCCCCCGACTGTATCCAGACATGGTCAG AGCTGAGCACCCCTCCCCGACTGTATCCAGACATGTTCAGAGCTGGGCAC CCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGLEC14_chr19_51634478_51651825	51636051	C C	CTAATTTT others(276): Show CTAATTTTCGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCCGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0100 a0001c0002t0012g0100	1	300	0.0033	283	c.73 others(294): Show c.7303_*7304insTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCGGAGATCCTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCGAAAATTA	SIGLEC14	ENSG00000254415.4	transcript	ENST00000360844.7	protein_coding		3426		chr19	TogoVar
SIGLEC14_chr19_51634478_51651825	51636051	C C	CTAATTTT others(276): Show CTAATTTTCGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCCGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02572.hp1 HG02723.hp1 others(14): Show HG00597.hp2 HG02572.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02976.hp1 HG02976.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp2 NA18942.hp1 NA18952.hp1 NA18962.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0009 a0001c0001t0015 a0001c0001t0021 others(9): Show a0001c0001t0009 a0001c0001t0015 a0001c0001t0021 a0001c0001t0024 a0001c0001t0031 a0001c0001t0051 a0001c0001t0084 a0001c0001t0086 a0001c0001t0092 a0001c0002t0015 a0001c0002t0057 a0001c0004t0048	a0001c0001t0009g0007 a0001c0001t0009g0116 a0001c0001t0015g0069 others(12): Show a0001c0001t0009g0007 a0001c0001t0009g0116 a0001c0001t0015g0069 a0001c0001t0021g0011 a0001c0001t0024g0025 a0001c0001t0031g0024 a0001c0001t0051g0139 a0001c0001t0084g0056 a0001c0001t0086g0062 a0001c0001t0092g0065 a0001c0002t0015g0087 a0001c0002t0015g0098 a0001c0002t0015g0103 a0001c0002t0057g0094 a0001c0004t0048g0136	17	300	0.0567	283	c.73 others(294): Show c.7303_*7304insTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCGGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCGAAAATTA	SIGLEC14	ENSG00000254415.4	transcript	ENST00000360844.7	protein_coding		3426		chr19	TogoVar
SLC16A3_chr17_82224042_82245086	82227685	C C	CACCACCT others(276): Show CACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCAC CTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCC TGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCG GGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCA CCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCT GCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG03516.hp1 HG02615.hp1 HG02647.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0003t0002g0049 a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0003t0002g0049	3	410	0.0073	283	c.-14 others(294): Show c.-1448_-1447insACCACCTGCCCTGGGCGGGAGCACCACCTGCCCT GGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGG GAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCAC CACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTG CCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGG GCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGG	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		1356		chr17	TogoVar
SLC7A1_chr13_29504414_29600688	29558290	G G	GGGGGGAG others(276): Show GGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTG AATGTGAGTGAGGGGGGAGTGAATGTGAATGAGGGGGAGAGAATGTGAGT GAGGTGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGA GAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAA TGAGGGGGAGAGAATGTGAGTGAGGTGGAGAGAATGTGAGTGAGGGGGAG TGAATGTGAGTGAGGGGGGAGTGAATGTGAGTGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG06807.hp1 HG03516.hp2 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0022 a0001c0008t0031 a0001c0003t0022 a0001c0008t0031	a0001c0003t0022g0043 a0001c0008t0031g0039 a0001c0003t0022g0043 a0001c0008t0031g0039	2	330	0.0061	283	c.-11 others(302): Show c.-114-4431_-114-4430insTCACTCACATTCACTCCCCCCTCACT CACATTCACTCCCCCTCACTCACATTCTCTCCACCTCACTCACATTCTCT CCCCCTCATTCACATTCACTCCCCCCTCACTCACATTCACTCCCCCTCAC TCACATTCTCTCCCCCTCACTCACATTCACTCCCCCTCACTCACATTCTC TCCACCTCACTCACATTCTCTCCCCCTCATTCACATTCACTCCCCCCTCA CTCACATTCACTCCCCCTCACTCACATTCACTCCCCCTCACTCACATTCA CTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SNAPC4_chr9_136370571_136405170	136403322	G G	GGGGGGAG others(276): Show GGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGG GGAAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGG AAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGGAG AAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAA GGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGG ACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	380	0.0026	283	c.-31 others(294): Show c.-3199_-3198insGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGT CCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCC TTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTT CTCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTCCCTTTCTT CCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTCCCTTTCTTCC CCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3153		chr9	TogoVar
SNTG2_chr2_945849_1372613	1143707	T T	TAAAATAC others(276): Show TAAAATACAAAAAAACACACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01074.hp2 others(13): Show HG00099.hp1 HG00140.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01169.hp1 HG01496.hp2 HG02071.hp2 HG02132.hp1 HG02165.hp1 HG03017.hp2 HG03239.hp1 NA18961.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0011	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0002c0022 a0006c0010 a0011c0020	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0005t0001 a0002c0022t0001 a0006c0010t0001 a0011c0020t0001	a0001c0001t0001g0063 a0001c0001t0001g0124 a0001c0002t0001g0017 others(13): Show a0001c0001t0001g0063 a0001c0001t0001g0124 a0001c0002t0001g0017 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0126 a0001c0002t0001g0145 a0002c0003t0001g0021 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0005t0001g0020 a0002c0005t0001g0131 a0002c0005t0001g0156 a0002c0022t0001g0155 a0006c0010t0001g0162 a0011c0020t0001g0143	16	190	0.0842	283	c.411 others(300): Show c.411+5914_411+5915insCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATACAAAA AAACA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1143707	T T	TAAAATAC others(276): Show TAAAATACAAAAAAACACACTTTGGGAGGCCGAGGCGGGCGGATGACGAG GTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp2 NA18522.hp2 HG02647.hp1 HG03209.hp2 NA18522.hp2	a0003 a0004 a0013 a0003 a0004 a0013	a0003c0008 a0004c0004 a0013c0018 a0003c0008 a0004c0004 a0013c0018	a0003c0008t0001 a0004c0004t0002 a0013c0018t0001 a0003c0008t0001 a0004c0004t0002 a0013c0018t0001	a0003c0008t0001g0106 a0004c0004t0002g0074 a0013c0018t0001g0045 a0003c0008t0001g0106 a0004c0004t0002g0074 a0013c0018t0001g0045	3	190	0.0158	283	c.411 others(300): Show c.411+5914_411+5915insCACTTTGGGAGGCCGAGGCGGGCGGATG ACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATACAAAA AAACA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1143707	T T	TAAAATAC others(276): Show TAAAATACAAAAAAACACACTTTGGGAGGCCGAGGCGGGCGGATGACGAG GTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCTGGCGTGGTAGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02630.hp2 HG02738.hp1 others(1): Show HG02132.hp2 HG02630.hp2 HG02738.hp1 NA19000.hp2	a0001 a0006 a0021 a0001 a0006 a0021	a0001c0001 a0006c0009 a0021c0027 a0001c0001 a0006c0009 a0021c0027	a0001c0001t0001 a0006c0009t0001 a0021c0027t0001 a0001c0001t0001 a0006c0009t0001 a0021c0027t0001	a0001c0001t0001g0035 a0006c0009t0001g0049 a0006c0009t0001g0163 others(1): Show a0001c0001t0001g0035 a0006c0009t0001g0049 a0006c0009t0001g0163 a0021c0027t0001g0127	4	190	0.0211	283	c.411 others(300): Show c.411+5914_411+5915insCACTTTGGGAGGCCGAGGCGGGCGGATG ACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCTGGCGTGGTAGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATACAAAA AAACA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(276): Show AGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGAGG GGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	260	0.0039	283	c.138 others(302): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCTTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
ST7_chr7_116948501_117235176	117121887	T T	TAAGAGGA others(276): Show TAAGAGGAGACATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19086.hp2 NA18990.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0039 a0001c0001t0001g0006 a0001c0001t0001g0039	2	188	0.0106	283	c.394 others(300): Show c.394+2176_394+2177insCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA GGAGA	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SULT6B1_chr2_37162820_37193670	37166535	T T	TCCCTTCC others(276): Show TCCCTTCCTTCCTTCCTCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCT CCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTCCCTCCCTTCCTTCCTTCCTCCCTCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0118	1	354	0.0028	283	c.13 others(294): Show c.1399_*1400insGAGGGAGGAGGGAGGAAGGAAGGAAGGGAGGGAG GAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGAAGGG AGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAG GAAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGG AGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGAGGAAGGAAGGAAGGG	SULT6B1	ENSG00000138068.12	transcript	ENST00000535679.6	protein_coding		1284		chr2	TogoVar
SYN3_chr22_32502820_33063381	32572436	T T	TTCCCTCC others(276): Show TTCCCTCCCTCCTTTCCTTCCTTCCTTCCTCCTTCCTTCCCTCCTTTCCT TCCTTCCTTCTCTCCTCCTTTCCTTCCTTCTCTCCCCCTTCCTTCCCTCC CTTCCTCCCTCCCTCCCTTCCTTCTTTTCCTTCCCTTCCCTTCTCTTCCT TCCTTCCCCCTTCCTTCCCTTCTTCCTTAGCTCCTTCTCTTCATTTCCTT CCTTCCTTCCCCTTTTCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCT TCCCTCCCTCCCTTCCTGCCTTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00673.hp1 HG01070.hp2 others(29): Show HG00323.hp1 HG00673.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01175.hp2 HG01192.hp2 HG01261.hp2 HG01358.hp1 HG01978.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02258.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02976.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03492.hp1 HG03688.hp2 HG03704.hp2 NA18957.hp2 NA18969.hp2 NA18980.hp1 NA18984.hp1 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0026 a0001c0001t0030 a0001c0001t0058 a0001c0001t0059 a0001c0001t0066 a0001c0001t0073 a0001c0001t0078 a0001c0001t0079 a0001c0003t0049 a0001c0004t0017 a0001c0006t0007 a0002c0002t0011 a0002c0002t0051	a0001c0001t0001g0011 a0001c0001t0001g0048 a0001c0001t0001g0113 others(29): Show a0001c0001t0001g0011 a0001c0001t0001g0048 a0001c0001t0001g0113 a0001c0001t0001g0162 a0001c0001t0002g0037 a0001c0001t0002g0049 a0001c0001t0002g0057 a0001c0001t0002g0072 a0001c0001t0002g0182 a0001c0001t0003g0016 a0001c0001t0003g0107 a0001c0001t0003g0128 a0001c0001t0007g0079 a0001c0001t0007g0172 a0001c0001t0008g0047 a0001c0001t0008g0133 a0001c0001t0009g0170 a0001c0001t0015g0043 a0001c0001t0026g0026 a0001c0001t0026g0171 a0001c0001t0030g0015 a0001c0001t0058g0180 a0001c0001t0059g0078 a0001c0001t0066g0052 a0001c0001t0073g0175 a0001c0001t0078g0003 a0001c0001t0079g0004 a0001c0003t0049g0120 a0001c0004t0017g0095 a0001c0006t0007g0074 a0002c0002t0011g0061 a0002c0002t0051g0142	32	184	0.1739	283	c.774 others(302): Show c.774+24237_774+24238insGGGAGGGAAGGAAAGGCAGGAAGGGA GGGAGGGAAGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGAAAAGGGG AAGGAAGGAAGGAAATGAAGAGAAGGAGCTAAGGAAGAAGGGAAGGAAGG GGGAAGGAAGGAAGAGAAGGGAAGGGAAGGAAAAGAAGGAAGGGAGGGAG GGAGGAAGGGAGGGAAGGAAGGGGGAGAGAAGGAAGGAAAGGAGGAGAGA AGGAAGGAAGGAAAGGAGGGAAGGAAGGAGGAAGGAAGGAAGGAAAGGAG GGAGGGA	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	7/13			chr22	TogoVar

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