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
AKAP10_chr17_19899302_19982828	19910322	A A	ACTCAAAA others(303): Show ACTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGGGCATGGTGGCTCACACC TGTAATCCTAGCACTTTGGGAGGCTGAGGTGGATGGATCACCTGAGGTCA GGAGTTTGAGACCAGCCTGGCCAACATGACGAAACCATGTCTCTACTAAA AATATAAATAATAAAAAAAATTAGCTGGGTAGTAGGCACCTGTAATCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCAGGAGGCGGAG GTTGCAGTAAGTCTAGATCGCACCATTGCACTACAGTCTGGGTGACAGAG CAAGACTCTGT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0240 a0003c0003t0005g0240	1	276	0.0036	310	c.183 others(327): Show c.1835-345_1835-344insACAGAGTCTTGCTCTGTCACCCAGACTG TAGTGCAATGGTGCGATCTAGACTTACTGCAACCTCCGCCTCCTGGGTTC CAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCT ACTACCCAGCTAATTTTTTTTATTATTTATATTTTTAGTAGAGACATGGT TTCGTCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCA TCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCATGC CCGGCCTTTTTTTTTTTTTTTTTTTTTTTGAG	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	12/14			chr17	TogoVar
AKT3_chr1_243494724_243855243	243525837	G G	GGGAGGAG others(303): Show GGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAGGG GGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAAGG GGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGAGG AGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGGGA GGGGGGGAGGGGGGGAGGGGGGAGGGGAGGAGGAGGAGGGGGAGGAGGAG GAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAG GGGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	119	0.0084	310	c.125 others(331): Show c.1252-13412_1252-13411insTCCTCCTCCCCCTCCTCCTCCTCC CCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCC TCCTCCTCCTCCCCTCCCCCCTCCCCCCCTCCCCCCCTCCCCCCCTCCCC CTCCCCCTCCCCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCC CTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCC CTTCTCCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTT CCCCTCTTCACCTTCTCCCCTCCCCTCCCCTCCTCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ALDH1L2_chr12_105014790_105089458	105044600	G G	GGCCGGGC others(303): Show GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAGAGTGGGAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18940.hp1 NA18947.hp1 HG02027.hp2 NA18940.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0005 a0001c0011t0005 a0001c0001t0005 a0001c0011t0005	a0001c0001t0005g0246 a0001c0001t0005g0313 a0001c0011t0005g0294 a0001c0001t0005g0246 a0001c0001t0005g0313 a0001c0011t0005g0294	3	229	0.0131	310	c.186 others(329): Show c.1863+2109_1863+2110insTTCCCACTCTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105044600	G G	GGCCGGGC others(303): Show GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCGCTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAGTGGGAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0363 a0001c0002t0020g0363	1	227	0.0044	310	c.186 others(329): Show c.1863+2109_1863+2110insTTCCCACTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105044600	G G	GGCCGGGC others(303): Show GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCGCTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAGAGTGGGAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02056.hp2 HG02293.hp1 others(13): Show HG01952.hp2 HG02056.hp2 HG02293.hp1 HG03688.hp2 NA18940.hp2 NA18944.hp2 NA18949.hp1 NA18974.hp1 NA18975.hp2 NA18979.hp2 NA18993.hp1 NA19005.hp2 NA19057.hp1 NA19078.hp1 NA19087.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0004 a0001c0002t0002 a0001c0002t0020 others(1): Show a0001c0001t0004 a0001c0002t0002 a0001c0002t0020 a0002c0004t0002	a0001c0001t0004g0004 a0001c0001t0004g0084 a0001c0001t0004g0191 others(12): Show a0001c0001t0004g0004 a0001c0001t0004g0084 a0001c0001t0004g0191 a0001c0001t0004g0222 a0001c0001t0004g0239 a0001c0001t0004g0247 a0001c0001t0004g0249 a0001c0001t0004g0291 a0001c0001t0004g0314 a0001c0001t0004g0376 a0001c0002t0002g0208 a0001c0002t0002g0263 a0001c0002t0002g0271 a0001c0002t0020g0374 a0002c0004t0002g0205	16	242	0.0661	310	c.186 others(329): Show c.1863+2109_1863+2110insTTCCCACTCTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
AMPH_chr7_38378704_38636373	38438564	T T	TCATTATT others(303): Show TCATTATTTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02300.hp2 HG02056.hp2 HG02300.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0001 a0001c0007t0005 a0001c0003t0001 a0001c0007t0005	a0001c0003t0001g0284 a0001c0007t0005g0228 a0001c0003t0001g0284 a0001c0007t0005g0228	2	281	0.0071	310	c.101 others(329): Show c.1018-2177_1018-2176insGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAGGAAATAATG	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
ANK3_chr10_60021298_60394875	60365086	T T	TAAAAAAT others(303): Show TAAAAAATAGATGCTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCG GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTG GGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18612.hp2 HG03239.hp1 NA18612.hp2	a0001 a0021 a0001 a0021	a0001c0001 a0021c0081 a0001c0001 a0021c0081	a0001c0001t0005 a0021c0081t0051 a0001c0001t0005 a0021c0081t0051	a0001c0001t0005g0094 a0021c0081t0051g0086 a0001c0001t0005g0094 a0021c0081t0051g0086	2	131	0.0153	310	c.114 others(329): Show c.114+24338_114+24339insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGG ACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG CCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCT CGGCCTCCCAAAGTGCTGGGAGCATCTATTTTTT	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	1/43			chr10	TogoVar
ANKLE2_chr12_132720503_132766832	132759517	A A	ATATGATA others(303): Show ATATGATATGTGCTATATGATATACACGTATCATATGCCATGATATACGT ATATTATACATCATATATAAAAACATATTTTTATATAAAATATCAGTATT TTATGTATATTATATGTGCTATATGATATACACGTATCATATGCCATGAT ATACGTATATTATACATCATATATAAAAACATATTTTTATATAAAATATC AGTATTTTATGTATACTATATGTGCTATATGATATACACGTATCATATGC CATGATATACGTATATTATACATCATATATAAAAACATTTTTATATAAAA TATCAGTATTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02809.hp2 HG01106.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0131 a0001c0001t0001g0132	2	320	0.0063	310	c.181 others(327): Show c.181+2100_181+2101insAAATACTGATATTTTATATAAAAATGTT TTTATATATGATGTATAATATACGTATATCATGGCATATGATACGTGTAT ATCATATAGCACATATAGTATACATAAAATACTGATATTTTATATAAAAA TATGTTTTTATATATGATGTATAATATACGTATATCATGGCATATGATAC GTGTATATCATATAGCACATATAATATACATAAAATACTGATATTTTATA TAAAAATATGTTTTTATATATGATGTATAATATACGTATATCATGGCATA TGATACGTGTATATCATATAGCACATATCATA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ARF4_chr3_57566363_57602344	57578465	T T	TCAATTCT others(303): Show TCAATTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01257.hp1 HG01358.hp1 others(32): Show HG00544.hp1 HG01257.hp1 HG01358.hp1 HG01361.hp1 HG01928.hp2 HG02056.hp1 HG02132.hp2 HG02135.hp1 HG02258.hp2 HG02698.hp1 HG02735.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA19005.hp2 NA19007.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0001g0043 others(20): Show a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230	35	346	0.1012	310	c.259 others(327): Show c.259-1079_259-1078insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAGAATTG	ARF4	ENSG00000168374.11	transcript	ENST00000303436.11	protein_coding	3/5			chr3	TogoVar
ARHGAP32_chr11_128960060_129197325	129127570	T T	TGAAAGGA others(303): Show TGAAAGGAAAATACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAATAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA19240.hp2 HG03710.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0295 a0001c0002t0001g0206 a0001c0002t0001g0295	2	316	0.0063	310	c.226 others(327): Show c.226-2677_226-2676insTTTTTTTTTTTTTTTTTATTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCAGTATTTTCCTTTC	ARHGAP32	ENSG00000134909.19	transcript	ENST00000682385.1	protein_coding	2/22			chr11	TogoVar
ARMH3_chr10_101840599_102061173	102000595	C C	CAAAAAAT others(303): Show CAAAAAATACATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03098.hp1 HG01109.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0091 a0001c0001t0001g0067 a0001c0001t0001g0091	2	173	0.0116	310	c.115 others(329): Show c.1150+1375_1150+1376insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTATGTATTTTTT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	15/25			chr10	TogoVar
ASAP1_chr8_130047104_130448674	130049484	G G	GGGGAACA others(303): Show GGGGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACA CATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGG CAGAGGAGAACACATGGAGGGCAGAGGGGAACACATGGGGGCAGAGGGGA ACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGG GGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAG GAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACA TGGAGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0263 a0001c0001t0021g0263	1	291	0.0034	310	c.52 others(321): Show c.5246_*5247insTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGT GTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCC TCTGCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCC ATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCC CCTCTGCCCTCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCC CCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTG TTCCCCCTCTGCCCCCATGTGTTCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2619		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049880	G G	GAACACAT others(303): Show GAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATG GGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGGGGCAGAGG GGAACACATGGAGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACA TGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGGAACACATGGAGGGC AGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGAGGGCAGAGGGGA ACACATGGAGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGG GGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	229	0.0044	310	c.48 others(321): Show c.4850_*4851insTCCTCTGCCCCCCATGTGTTCCCCTCTGCCCTCC ATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCTCCATGTGTTC CCCTCTGCCCTCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCCTCTG CCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCTCCATG TGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCCT CTGCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCAT GTGTTCCCCTCTGCCCCCCATGTGTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2223		chr8	TogoVar
ATCAY_chr19_3875685_3933082	3909139	T T	TGGCAGGA others(303): Show TGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAG ATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACTCCATCTCA AAAAAAAAAAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0334 a0001c0001t0002g0334	1	64	0.0156	310	c.648 others(325): Show c.648-336_648-335insCGCTTGAACCCAGGAGGCGGAGGTTGCAGT AAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACT CCATCTCAAAAAAAAAAAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGG CTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACACCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGTGTTGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAAT	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATF1_chr12_50759101_50826162	50776326	A A	AAAAAAAT others(303): Show AAAAAAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01243.hp1 others(6): Show HG00099.hp2 HG00639.hp2 HG01243.hp1 HG01257.hp1 HG01517.hp2 HG03516.hp1 HG03688.hp1 NA19030.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0004 a0001c0001t0001 a0001c0001t0004 a0001c0003t0004	a0001c0001t0001g0323 a0001c0001t0001g0341 a0001c0001t0004g0021 others(5): Show a0001c0001t0001g0323 a0001c0001t0001g0341 a0001c0001t0004g0021 a0001c0001t0004g0337 a0001c0003t0004g0338 a0001c0003t0004g0339 a0001c0003t0004g0340 a0001c0003t0004g0343	9	353	0.0255	310	c.-6- others(325): Show c.-6-3799_-6-3798insTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCTAAAAAATTTTTTTTT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(303): Show TCCCCACCTCCCCCCACCCCCCCACCTCCCCCACCCCCCCACCCCCCACC TCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCCC CCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCC CCCACCCCCACCCCCTACCCCCACCCCCTACCCCCCACCCCCCACCTCCC CCCACCCCCCACCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACC TCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0002 a0004c0015t0002	a0004c0015t0002g0052 a0004c0015t0002g0052	1	5	0.2000	310	c.39+ others(327): Show c.39+32844_39+32845insACCCCCCCACCTCCCCCACCCCCCCACC CCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCC ACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCC ACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCC CCCACCCCCCACCCCCACCCCCTACCCCCACCCCCTACCCCCCACCCCCC ACCTCCCCCCACCCCCCACCCCTACCCCCCACCCCCCACCTCCCCCCACC CCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112866639	T T	TTCTGGGT others(303): Show TTCTGGGTGACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0047 a0001c0044t0047	a0001c0044t0047g0134 a0001c0044t0047g0134	1	107	0.0093	310	c.299 others(329): Show c.2991+4076_2991+4077insTTTTTTTTTTTTTTTTTGAGACGGAG TCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTCTGGGTGACTT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP6V0A4_chr7_138701294_138803196	138759063	T T	TTTTTTTT others(303): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCTGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0035 a0001c0010t0002g0035	1	373	0.0027	310	c.639 others(325): Show c.639+688_639+689insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	8/21			chr7	TogoVar
ATP9B_chr18_79064394_79383283	79323079	A A	ATTTATCG others(303): Show ATTTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGT TAGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATC GTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAAT CCTCCGTTTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTT CGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAATCCTCCGT TTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGTTA GTAATCCTCCG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0164 a0002c0002t0001g0164	1	277	0.0036	310	c.177 others(329): Show c.1774-5892_1774-5891insCGTTAGTAATCCTCCGTTTATCGTTG CTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAATCCTC CGTTTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCG TTAGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTAT CGTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAA TCCTCCGTTTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCT TCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79323079	A A	ATTTATCG others(303): Show ATTTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGT TAGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATC GTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAAT CCTCCGTTTATCGTTGCTTCGTGTTAGTAATCCTCCGTTTATCGTTGCTT CGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAATCCTCCGT TTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGTTA GTAATCCTCCG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00733.hp1 others(4): Show HG00280.hp2 HG00323.hp2 HG00733.hp1 HG00735.hp2 HG01123.hp2 HG01517.hp2 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 others(4): Show a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0172	7	283	0.0247	310	c.177 others(329): Show c.1774-5878_1774-5877insCGTTTATCGTTGCTTCGCGTTAGTAA TCCTCCGTTTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCT TCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAATCCTCCG TTTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGTT AGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATCG TTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAATC CTCCGTTTATCGTTGCTTCGTGTTAGTAATCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79335982	A A	AGCCCTCC others(303): Show AGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGT GTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCC CAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCA CCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCTGT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0290 a0001c0006t0007g0290	1	293	0.0034	310	c.202 others(327): Show c.2029-527_2029-526insTCCGTGCCCTCCCTGGCACCAGGTGCTC CCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGG CACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCA TGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGT GTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCC CAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336102	A A	ACCATGCC others(303): Show ACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCG CCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCG TCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGC TCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCT GGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTC CGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCC GTGTGCACCCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG02897.hp2 HG02145.hp2 HG02615.hp2 HG02897.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0004 a0002c0005t0001 a0002c0005t0004	a0002c0005t0001g0183 a0002c0005t0001g0188 a0002c0005t0004g0173 a0002c0005t0001g0183 a0002c0005t0001g0188 a0002c0005t0004g0173	3	245	0.0122	310	c.202 others(327): Show c.2029-463_2029-462insCGTGCCCTCCCTGGCACCAGGCGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCA CCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCT CGCCCGTCCCCAGCACCGCCGTGTGCACCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336105	A A	ATGCCCTC others(303): Show ATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGT GCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0116 a0001c0004t0004g0116	1	210	0.0048	310	c.202 others(327): Show c.2029-504_2029-503insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTG GCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCT GTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCGTGCCCTCCCTGGCACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336125	C C	CGCTCCCC others(303): Show CGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTC CCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACC CTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACC GCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCC GTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCG CTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCC TGGCACCAGGT	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18977.hp2 HG01346.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0086 a0001c0001t0001g0087	2	278	0.0072	310	c.202 others(327): Show c.2029-463_2029-462insCGTGCCCTCCCTGGCACCAGGCGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCA CCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCT CGCCCGTCCCCAGCACCGCCGTGTGCACCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(303): Show GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02293.hp1 NA18943.hp1 others(9): Show HG01975.hp2 HG02293.hp1 NA18943.hp1 NA18945.hp2 NA18960.hp2 NA18980.hp1 NA18984.hp2 NA18992.hp2 NA18994.hp2 NA19009.hp1 NA19010.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(9): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0083	12	243	0.0494	310	c.202 others(327): Show c.2029-442_2029-441insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTG GCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCC GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(303): Show GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCATGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	232	0.0043	310	c.202 others(327): Show c.2029-442_2029-441insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCT CCCCTCGCCCGTCCCCAGCACCGCCATGTGCACCCTCCATGCCCTCCCTG GCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCC GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(303): Show GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00673.hp2 others(12): Show HG00140.hp1 HG00544.hp1 HG00673.hp2 HG01167.hp2 HG01169.hp1 HG01358.hp2 HG01361.hp1 HG03710.hp2 NA18522.hp2 NA18941.hp2 NA18948.hp2 NA18982.hp1 NA19086.hp2 NA19088.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0015 others(1): Show a0001c0001 a0001c0003 a0001c0015 a0002c0005	a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 a0001c0015t0001 a0002c0005t0001	a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0053 others(12): Show a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0008g0055 a0001c0001t0008g0057 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0015t0001g0128 a0002c0005t0001g0243	15	246	0.0610	310	c.202 others(327): Show c.2029-442_2029-441insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTG GCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCC GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(303): Show GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0005 a0001c0001t0010g0005	1	232	0.0043	310	c.202 others(327): Show c.2029-442_2029-441insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTG GCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCC GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(303): Show GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02300.hp2 HG02109.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0038 a0001c0001 a0001c0038	a0001c0001t0001 a0001c0038t0001 a0001c0001t0001 a0001c0038t0001	a0001c0001t0001g0037 a0001c0038t0001g0265 a0001c0001t0001g0037 a0001c0038t0001g0265	2	233	0.0086	310	c.202 others(327): Show c.2029-442_2029-441insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTG GCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCC GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
BCAS1_chr20_53938541_54075594	54021397	T T	TAAAAAAA others(303): Show TAAAAAAAAAGTACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATGCAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03669.hp2 HG02683.hp2 HG03669.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0014 a0001c0001 a0014c0014	a0001c0001t0020 a0014c0014t0003 a0001c0001t0020 a0014c0014t0003	a0001c0001t0020g0164 a0014c0014t0003g0311 a0001c0001t0020g0164 a0014c0014t0003g0311	2	258	0.0078	310	c.723 others(327): Show c.723+6994_723+6995insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGCATTTT TAGTAGAGACAGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCGTACTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BSN_chr3_49549477_49676549	49606254	A A	ATACATAT others(303): Show ATACATATATTATATATGTATATATATTATATATACATATATTATATATG TATATATTATATATACATATATTATATATGTATATATTATATATACATAT ATTATATATGTATATATTATATATACATATATTATATATGTATTATATAT ACATATATTATATATGTATATATTATATATAAAATATATATAATATATAT TAAAAATATATATTATATATATTAAAAATATATATAATATATATTAAAAA TATATATTATATATATTAAAATATATATATAATATATATTAAAAATATAT ATTATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0003 a0003	a0003c0033 a0003c0033	a0003c0033t0004 a0003c0033t0004	a0003c0033t0004g0025 a0003c0033t0004g0025	1	161	0.0062	310	c.225 others(329): Show c.225-18719_225-18718insCATATATTATATATGTATATATATTA TATATACATATATTATATATGTATATATTATATATACATATATTATATAT GTATATATTATATATACATATATTATATATGTATATATTATATATACATA TATTATATATGTATTATATATACATATATTATATATGTATATATTATATA TAAAATATATATAATATATATTAAAAATATATATTATATATATTAAAAAT ATATATAATATATATTAAAAATATATATTATATATATTAAAATATATATA TAATATATATTAAAAATATATATTATATATATTA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BTD_chr3_15596745_15658714	15597524	C C	CTCATTTC others(303): Show CTCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02559.hp1 others(2): Show HG02257.hp2 HG02258.hp1 HG02559.hp1 HG03041.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0054 a0001c0001t0015 a0001c0001t0054	a0001c0001t0015g0283 a0001c0001t0015g0284 a0001c0001t0015g0286 others(2): Show a0001c0001t0015g0283 a0001c0001t0015g0284 a0001c0001t0015g0286 a0001c0001t0015g0287 a0001c0001t0054g0285	5	411	0.0122	310	c.-43 others(321): Show c.-4387_-4386insTCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCA	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding		4220		chr3	TogoVar
CAMKMT_chr2_44356947_44777592	44588992	T T	TACTGGGA others(303): Show TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCAGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGACCCGTCCGGGAGGTG AGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGGGTCGGC CAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	6	0.1667	310	c.377 others(331): Show c.377-115291_377-115290insACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGACCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGCGCGGGGGGGGGGGGTCGGCCAGCCGCCCTG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44588992	T T	TACTGGGA others(303): Show TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCAGGAGG GAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGACCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGGGTCGGC CAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	6	0.1667	310	c.377 others(331): Show c.377-115291_377-115290insACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCATCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGACCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGCGCGGGGGGGGGGGGTCGGCCAGCCGCCCTG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44588992	T T	TACTGGGA others(303): Show TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCAGGAGG GAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGACCCGTCCGGGAGGTG AGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGTGGGGGGCGGGGGTCGGC CAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA20129.hp1 HG00738.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0113 a0001c0001t0002g0114	2	7	0.2857	310	c.377 others(331): Show c.377-115291_377-115290insACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCATCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGACCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGCGTGGGGGGCGGGGGTCGGCCAGCCGCCCTG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44588992	T T	TACTGGGA others(303): Show TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCACCATCCAGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGACCCGTCCGGGAGGTG AGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGGGTCGGC CAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	6	0.1667	310	c.377 others(331): Show c.377-115291_377-115290insACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCACCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGACCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGCGCGGGGGGGGGGGGTCGGCCAGCCGCCCTG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44598696	T T	TAAAATCA others(303): Show TAAAATCAGAAGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA20129.hp1 HG00738.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0113 a0001c0001t0002g0114	2	77	0.0260	310	c.377 others(331): Show c.377-105572_377-105571insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAATCAGAAGTCCT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP2_chr1_200733893_200865704	200816925	C C	CACACACG others(303): Show CACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACA CACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACA CACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACA CGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACG CGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCG CGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCG TGTATGTGTGT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	250	0.0040	310	c.645 others(327): Show c.645+1287_645+1288insGCGCGTGTATGTGTGTACACACACGCGC GTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGT GTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGT ATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTAT GTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGT GTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGT GTACACACACGCGCGTGTATGTGTGTACACAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816951	C C	CACACACG others(303): Show CACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACA CACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACA CACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACA CGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACG CGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCG CGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCG TGTATGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	362	0.0028	310	c.645 others(327): Show c.645+1313_645+1314insGCGCGTGTATGTGTGTACACACACGCGC GTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGT GTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGT ATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTAT GTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGT GTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGT GTACACACACGCGCGTGTATGTGTGTACACAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816966	G G	GTATGTGC others(303): Show GTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGT GTGTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGC GTGTGTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACAC GCGTGTGTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACAC ACGCGTGTGTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACAC ACACGCGTGTGTATGTGCGTACACACACACGCGTGTGTATGTGCGTACAC ACACACGCGTA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	267	0.0037	310	c.645 others(327): Show c.645+1328_645+1329insCGTACACACACACGCGTGTGTATGTGCG TACACACACACGCGTGTGTATGTGCGTACACACACACGCGTGTGTATGTG CGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGTGTGTATG TGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGTGTGTA TGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGTGTG TATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGTG TGTATGTGCGTACACACACACGCGTATATGTG	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816966	G G	GTATGTGT others(303): Show GTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGT GTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGC GTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACAC GCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACAC ACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACAC ACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACAC ACACACGCGTA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	267	0.0037	310	c.645 others(327): Show c.645+1329_645+1330insGTACACACACACGCGTGTGTATGTGTGT ACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGT GTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGT GTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTAT GTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGT ATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGT GTATGTGTGTACACACACACGCGTATATGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN15_chr16_522712_559636	544780	T T	TCGTCTCC others(303): Show TCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCAC GTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGT CGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGTCGTCGC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0185 a0001c0002t0001g0185	1	125	0.0080	310	c.-22 others(327): Show c.-22-2036_-22-2035insGTCTCCCCCACGTCGCCTCCCCCCACGT CGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTC CCCCACGTCGTCGCCTCCCCCACGTCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CATSPERD_chr19_5715637_5783734	5761463	G G	GGCTGGAT others(303): Show GGCTGGATGGTGTATTAGTCTGTTTTCACAGTTTTCAGAACTATCTGAGA TTGGGTAATTTATAAAGAAAAGAGGTTTAATTGACTCACAGTTCCTCAGG CTTAACAGGAAGCACGACTTGGGGGTCTTAGGAAACTTACAATCATGGCG GAAGGCGCTGGATGGTGTATTAGTCTGTTTTCACAGTTTTCAGAACTATC TGAGATTGGGTAATTTATAAAGAAAAGAGGTTTAATTGACTCACAGTTCC TCAGGCTTAACAGGAAGCACGACTTGGGGGTCTTAGGAAACTTACAATCA TGGCGGAAGGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp1 HG01891.hp2 HG02970.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0011 a0001c0001 a0011c0011	a0001c0001t0002 a0011c0011t0001 a0001c0001t0002 a0011c0011t0001	a0001c0001t0002g0293 a0011c0011t0001g0003 a0001c0001t0002g0293 a0011c0011t0001g0003	2	100	0.0200	310	c.142 others(329): Show c.1428-1596_1428-1595insCTGGATGGTGTATTAGTCTGTTTTCA CAGTTTTCAGAACTATCTGAGATTGGGTAATTTATAAAGAAAAGAGGTTT AATTGACTCACAGTTCCTCAGGCTTAACAGGAAGCACGACTTGGGGGTCT TAGGAAACTTACAATCATGGCGGAAGGCGCTGGATGGTGTATTAGTCTGT TTTCACAGTTTTCAGAACTATCTGAGATTGGGTAATTTATAAAGAAAAGA GGTTTAATTGACTCACAGTTCCTCAGGCTTAACAGGAAGCACGACTTGGG GGTCTTAGGAAACTTACAATCATGGCGGAAGGCG	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC148_chr2_158166073_158461753	158428619	T T	TAAAAAGT others(303): Show TAAAAAGTCAGGAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATT AGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGA TCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTCCATCTCAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	227	0.0044	310	c.25+ others(327): Show c.25+27795_25+27796insTTTTTTTTTTTTTTGAGATGGAGTTTCG CTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTGTTTCCTGACTTTTT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC63_chr12_110841987_110912535	110906009	A A	AAAATATA others(303): Show AAAATATATATTATATTATATATAATATATATTATATAAAATATATATTA TATTATATATAATATATATTATATAAAATATATATTATATTATATAATAT ATATTATATAAAATATATATTATATTATATAATATATATTTTATAAAATA TATATTATATTATATAATATATATTTTATAAAATATATATTATATTATAT ATAATATATATTATATAAAATATATATTATATTATATAATATATATTATA TAAAATATATATTATATTATTATAATATATATTATATAAAATATATATTA TATTATATAAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	284	0.0035	310	c.154 others(329): Show c.1546+1219_1546+1220insAATATATATTATATTATATATAATAT ATATTATATAAAATATATATTATATTATATATAATATATATTATATAAAA TATATATTATATTATATAATATATATTATATAAAATATATATTATATTAT ATAATATATATTTTATAAAATATATATTATATTATATAATATATATTTTA TAAAATATATATTATATTATATATAATATATATTATATAAAATATATATT ATATTATATAATATATATTATATAAAATATATATTATATTATTATAATAT ATATTATATAAAATATATATTATATTATATAATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC6_chr10_59783747_59911556	59882095	G G	GGGAGAAG others(303): Show GGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGA AGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGAGAAGGAA AGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAA GCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCG CGGGGAGAAGGAAAGGAAAGCCGGGGGAGAAGGAAAGGAAAGCCGGGGAG AAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGG AAAGGAAAGCC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18970.hp2 NA19058.hp2 NA18963.hp2 NA18970.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0134 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0134	3	252	0.0119	310	c.303 others(329): Show c.303+24026_303+24027insGGCTTTCCTTTCCTTCTCCCCCCGGC TTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCT TTCCTTCTCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCT TCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTC CCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCGG CTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGGCTTTCC TTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC88C_chr14_91266323_91422820	91293553	C C	CCCTCACC others(303): Show CCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAG CTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCTGCCCC CTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTT CCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCT CACCTTCCCAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0146	1	263	0.0038	310	c.411 others(327): Show c.4112+619_4112+620insATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGGGGCAGGAAGGTGGGC TGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGT GAGGATGGGAAGGTGAGCTGTGGCAGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293553	C C	CCCTCACC others(303): Show CCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCACCTGCCACGGCCCA CCTTCCCATCCTCACCCACCACAGCTCACCTTCCCATCCTCACCCACCAC AGCCCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACC CGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATC CTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTT CCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCT CACCTTCCCAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0244 a0001c0024t0001g0244	1	263	0.0038	310	c.411 others(327): Show c.4112+619_4112+620insATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTG TGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGT GAGCTGTGGCGGGTGAGGATGGGAAGGTGGGCTGTGGTGGGTGAGGATGG GAAGGTGAGCTGTGGTGGGTGAGGATGGGAAGGTGGGCCGTGGCAGGTGA GGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCR6_chr6_167118096_167144141	167130970	G G	GGGCCCCC others(303): Show GGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGG ACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCC CCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTC CCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCT CCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGG GCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGAC TCCTCCCTCTA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0079 a0001c0002t0002g0079	1	375	0.0027	310	c.-97 others(327): Show c.-97-5066_-97-5065insCCCCCCTCCCTCCGGGACTCCTCCCTCT GGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGG ACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCC CCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTC CCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCT CCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGG GCCCCCCTCCCTCCGGGACTCCTCCCTCTAGG	CCR6	ENSG00000112486.18	transcript	ENST00000341935.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATG others(303): Show CACATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATA CACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATA CGCATACACACACATATATGTGTGTATACGCATACACACACATATGTGTG TGTATACGCATACACACATATGTGTGTGTATACGCATACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCA TACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0011 a0002c0002t0031g0011	1	301	0.0033	310	c.27 others(321): Show c.2752_*2753insACATATGTGTGTATACGCATACACACACATATGT GTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACAC ATATGTGTGTGTATACGCATACACACACATATATGTGTGTATACGCATAC ACACACATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGC ATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGCATACACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar

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