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
SYN3_chr22_32502820_33063381	32572436	T T	TTCCCTCC others(276): Show TTCCCTCCCTCCTTTCCTTCCTTCCTTCCTCCTTCCTTCCCTCCTTTCCT TCCTTCCTTCTCTCCTCCTTTCCTTCCTTCTCTCCCCCTTCCTTCCCTCC CTTCCTCCCTCCCTCCCTTCCTTCTTTTCCTTCCCTTCCCTTCTTCCTTC CCCCTTCCTTCCCTTCTTCCTTCCCCCTTCCTTCCCTTCTTCCTTAGCTC CTTCTCTTCATTTCCTTCCTTCCTTCCCCTTTTCCTCCCTCCCTCCCTCC TTCTTCCCTCCCTTCCTGCCTTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02970.hp2 HG03098.hp2 HG02559.hp1 HG02970.hp2 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0018 a0002c0002t0004 a0002c0002t0023 a0001c0001t0018 a0002c0002t0004 a0002c0002t0023	a0001c0001t0018g0146 a0002c0002t0004g0140 a0002c0002t0023g0164 a0001c0001t0018g0146 a0002c0002t0004g0140 a0002c0002t0023g0164	3	184	0.0163	283	c.774 others(302): Show c.774+24237_774+24238insGGGAGGGAAGGAAAGGCAGGAAGGGA GGGAAGAAGGAGGGAGGGAGGGAGGAAAAGGGGAAGGAAGGAAGGAAATG AAGAGAAGGAGCTAAGGAAGAAGGGAAGGAAGGGGGAAGGAAGAAGGGAA GGAAGGGGGAAGGAAGAAGGGAAGGGAAGGAAAAGAAGGAAGGGAGGGAG GGAGGAAGGGAGGGAAGGAAGGGGGAGAGAAGGAAGGAAAGGAGGAGAGA AGGAAGGAAGGAAAGGAGGGAAGGAAGGAGGAAGGAAGGAAGGAAAGGAG GGAGGGA	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	7/13			chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620985	C C	CCCACCCA others(276): Show CCCACCCACCCACACTATCTATCCACCCATCCACCCACACTATCCATCCA CCCACCCAACCACCCATCCTATTCATCCATCCATCCACCCACCCAGTCTA TCCACCCACCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATCTA TCCACCCATCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATCTA TCCACCCATCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATCTA TCCACCCATCCACCTATCCTATTCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01256.hp2 HG01175.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0217 a0001c0001t0002g0111 a0001c0001t0001g0217 a0001c0001t0002g0111	2	258	0.0078	283	c.113 others(302): Show c.113-25560_113-25559insACCCAACCACCCATCCTATTCATCCA TCCATCCACCCACCCAGTCTATCCACCCACCCACCTATCCTATTCATCCA TCCCCCCACCCACCCTATCTATCCACCCATCCACCTATCCTATTCATCCA TCCCCCCACCCACCCTATCTATCCACCCATCCACCTATCCTATTCATCCA TCCCCCCACCCACCCTATCTATCCACCCATCCACCTATCCTATTCATCCA TCCATCCACCCACCCACACTATCTATCCACCCATCCACCCACACTATCCA TCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46939060	G G	GGAGACAC others(276): Show GGAGACACCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCAATGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCACCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02976.hp2 HG03516.hp2 others(1): Show HG02486.hp2 HG02976.hp2 HG03516.hp2 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0002c0003t0009	a0001c0001t0001g0029 a0001c0001t0005g0002 a0001c0001t0009g0048 others(1): Show a0001c0001t0001g0029 a0001c0001t0005g0002 a0001c0001t0009g0048 a0002c0003t0009g0034	4	112	0.0357	283	c.101 others(304): Show c.1015+26886_1015+26887insTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGG CGCAATCTCGGCTCAATGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCGAGAC ACCATTTTT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TENT5A_chr6_81740730_81757681	81740855	G G	GTATATAA others(276): Show GTATATAATATGTATCATATTATATACTATATAATATGTATCATATTATA TACTATATAATATGTATCATATTATATACTATATAATATGTATCATATTA TATACTATATAATATGTATCATATTATATACTATATAATATGTATCATAT TATATACTATATAATATGTATCATATTATATACTATATAATATGTATCAT ATTATATACTATATAATATGTATCATATTATATACTATATAATATGTATC ATATTATATACTATATAATATGTATATTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0034 a0001c0001t0017g0034	1	446	0.0022	283	c.88 others(294): Show c.8839_*8840insGTATATAATATACATATTATATAGTATATAATAT GATACATATTATATAGTATATAATATGATACATATTATATAGTATATAAT ATGATACATATTATATAGTATATAATATGATACATATTATATAGTATATA ATATGATACATATTATATAGTATATAATATGATACATATTATATAGTATA TAATATGATACATATTATATAGTATATAATATGATACATATTATATAGTA TATAATATGATACATATTATATAGTATATAATATGATACATATTATATA	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4874		chr6	TogoVar
TEX19_chr17_82354247_82368775	82359797	C C	CCCCTCAG others(276): Show CCCCTCAGGTTCCCCCAGTTTCCCTCAAGTTTCCCTCGGGTTCCCCCAGT TTCCCTCAGGTTCCCCCAGGTTCCCTCAAGTTTCCCTCAGGTTCCCCCAG TTTCCCCCAGGTTCCCTCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAG GTTCCCTCAGTTTCCCCCAGTTTCCCTCAGGTTCCCTCAGGTTCCCCCAG TTTCCCTCAGTTTCCCCCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCA GTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01256.hp1 HG01257.hp1 others(2): Show HG01081.hp1 HG01256.hp1 HG01257.hp1 HG01433.hp1 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 others(2): Show a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039	5	380	0.0132	283	c.-27 others(300): Show c.-272+519_-272+520insGTTCCCCCAGTTTCCCTCAAGTTTCCCT CGGGTTCCCCCAGTTTCCCTCAGGTTCCCCCAGGTTCCCTCAAGTTTCCC TCAGGTTCCCCCAGTTTCCCCCAGGTTCCCTCAGTTTCCCTCAGGTTCCC CCAGTTTCCCTCAGGTTCCCTCAGTTTCCCCCAGTTTCCCTCAGGTTCCC TCAGGTTCCCCCAGTTTCCCTCAGTTTCCCCCAGTTTCCCTCAAGTTTCC CTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCC CTCAG	TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
THEG_chr19_356747_381026	377235	T T	TCTGTGCC others(276): Show TCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	370	0.0027	283	c.-12 others(294): Show c.-1266_-1265insGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1210		chr19	TogoVar
THEG_chr19_356747_381026	377240	G G	GCCCCACC others(276): Show GCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCT GTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCC CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	2	370	0.0054	283	c.-12 others(294): Show c.-1271_-1270insGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG GGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCAC AGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1215		chr19	TogoVar
TH_chr11_2158929_2176815	2161819	G G	GACCCCTG others(276): Show GACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACA CCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCACACCCCTATCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	388	0.0026	283	c.24 others(294): Show c.2413_*2414insGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGGGACAGGGG TGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2109		chr11	TogoVar
TM4SF19_chr3_196318547_196343388	196335076	A A	ACTGGGAG others(276): Show ACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGG GTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAG GGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAG GGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAG AAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCC TGAGAAGGTGGGGGTTGGAGAGGGGAGGGGTGCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02155.hp1 HG03490.hp1 others(2): Show HG00735.hp2 HG02155.hp1 HG03490.hp1 HG03942.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0155 a0001c0001t0001g0219 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0155 a0001c0001t0001g0219 a0001c0001t0001g0220	5	370	0.0135	283	c.-2+ others(298): Show c.-2+3187_-2+3188insAGCACCCCTCCCCTCTCCAACCCCCACCTT CTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCTC CCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACC CACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGC ATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCC TAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCC CAG	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TMEM132C_chr12_128262170_128712911	128473104	G G	GTCTTCAT others(276): Show GTCTTCATCTTCACTCCAACCTCCATCTTCATCTTCACTCCAGCCACTAT CTTCATCTTCACTCCAGCCTCCATCTTTGTCCTTACTCCAGCGTCTATCT TCATCCTCACTCCAACCCCTATCTTCATCTTCTCTCCAGCCTCCGTCTTC ATCTTCACTCCAGCCTCTATCTTCATCTTCAGTCCAGCCTCCATCTTTAT CTTCACTCCAGTCTCCATCTTCAGTCCAGCCTCCATCTTTATCTTCACTC CAGTCTCTATCTTCCATCTTCAGTCCAGCCTCTA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01261.hp1 HG01361.hp1 others(6): Show HG01070.hp1 HG01261.hp1 HG01361.hp1 HG01891.hp2 HG02148.hp1 HG03579.hp2 NA18522.hp1 NA19240.hp1 NA20129.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0009 a0028	a0001c0001 a0003c0009 a0003c0016 others(5): Show a0001c0001 a0003c0009 a0003c0016 a0004c0007 a0004c0061 a0005c0005 a0009c0003 a0028c0075	a0001c0001t0001 a0003c0009t0004 a0003c0016t0008 others(6): Show a0001c0001t0001 a0003c0009t0004 a0003c0016t0008 a0004c0007t0002 a0004c0007t0017 a0004c0061t0005 a0005c0005t0002 a0009c0003t0001 a0028c0075t0003	a0001c0001t0001g0098 a0003c0009t0004g0132 a0003c0016t0008g0093 others(6): Show a0001c0001t0001g0098 a0003c0009t0004g0132 a0003c0016t0008g0093 a0004c0007t0002g0090 a0004c0007t0017g0042 a0004c0061t0005g0046 a0005c0005t0002g0146 a0009c0003t0001g0023 a0028c0075t0003g0072	9	170	0.0529	283	c.974 others(302): Show c.974+57501_974+57502insACCTCCATCTTCATCTTCACTCCAGC CACTATCTTCATCTTCACTCCAGCCTCCATCTTTGTCCTTACTCCAGCGT CTATCTTCATCCTCACTCCAACCCCTATCTTCATCTTCTCTCCAGCCTCC GTCTTCATCTTCACTCCAGCCTCTATCTTCATCTTCAGTCCAGCCTCCAT CTTTATCTTCACTCCAGTCTCCATCTTCAGTCCAGCCTCCATCTTTATCT TCACTCCAGTCTCTATCTTCCATCTTCAGTCCAGCCTCTATCTTCATCTT CACTCCA	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TP73_chr1_3647516_3741201	3694754	A A	ATGCAGCC others(276): Show ATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCC CCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGACCCTTCCTCCCACAAT CCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCC TCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCC TGCAATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCT GCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	358	0.0028	283	c.186 others(302): Show c.186+11589_186+11590insCTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGACCCTTCCT CCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCC ATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCC CCTCCTCCTGCAATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATC CCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCT CAGCCCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694857	G G	GCCATGCA others(276): Show GCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCACCCATGCATCTTCAGCCCCTCCTCCCACA ATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGACCCTTCCT CCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCC ATGCAGCCTCAGCCCCCTCCTCCCACAATCCCAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp1 HG01243.hp2 HG02572.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0008 a0001c0005 a0003c0008	a0001c0005t0060 a0003c0008t0019 a0001c0005t0060 a0003c0008t0019	a0001c0005t0060g0178 a0003c0008t0019g0196 a0001c0005t0060g0178 a0003c0008t0019g0196	2	358	0.0056	283	c.186 others(302): Show c.186+11695_186+11696insCTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCACCCATGCATCTTCAGCCCCTCCTC CCACAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCC TGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGACCC TTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCC CAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCT CAGCCCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694857	G G	GCCATGCA others(276): Show GCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCA ATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGACCCTTCCT CCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCC ATGCAGCCTCAGCCCCCTCCTCCCACAATCCCAC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA19057.hp2 NA18977.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0006 a0001c0001t0002 a0001c0003t0006	a0001c0001t0002g0101 a0001c0003t0006g0122 a0001c0001t0002g0101 a0001c0003t0006g0122	2	358	0.0056	283	c.186 others(302): Show c.186+11695_186+11696insCTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCACCCATGCATCTTCAGCCCCTCCTC CCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCC TGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGACCC TTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCC CAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCT CAGCCCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TUBE1_chr6_112065663_112092482	112068826	C C	CTGGTCCT others(276): Show CTGGTCCTGCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0125	1	420	0.0024	283	c.25 others(294): Show c.2585_*2586insTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGCAGGACCA	TUBE1	ENSG00000074935.14	transcript	ENST00000368662.10	protein_coding		1836		chr6	TogoVar
UBE2U_chr1_64198623_64272368	64201470	T T	TGGGGGGG others(276): Show TGGGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCTGGCCAGCTGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGCGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 NA20300.hp1 HG01167.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0167 a0002c0003t0002g0311 a0001c0001t0002g0167 a0002c0003t0002g0311	2	330	0.0061	283	c.-25 others(294): Show c.-2581_-2580insGGGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCT GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCTGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTG	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2152		chr1	TogoVar
ULK1_chr12_131889622_131928150	131917187	C C	CGGAGGCT others(276): Show CGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCT GTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATG GGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTG GGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGG GTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0138 a0001c0002t0002g0138	1	344	0.0029	283	c.218 others(300): Show c.2182+127_2182+128insAGGCTGTGGGACGGGGGTCGGAGGCTGT GGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGG GGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAG GCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG ACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGT CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
WDR70_chr5_37374318_37758435	37688693	T T	TAAAAATA others(276): Show TAAAAATAAGCAAATTTCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCACCCCGGCTAGAATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00673.hp1 HG01256.hp2 others(8): Show HG00323.hp1 HG00673.hp1 HG01256.hp2 HG02083.hp1 HG02922.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18991.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0139 a0001c0001t0001g0146 others(8): Show a0001c0001t0001g0030 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0001t0001g0217	11	242	0.0455	283	c.109 others(302): Show c.1093-8946_1093-8945insCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGATCGAGACCACCCCGGCTAGAATGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGT AGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA GGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATAAG CAAATTT	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABCC4_chr13_95014835_95306451	95244596	T T	TGAAAGAA others(277): Show TGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0223 a0005c0019t0002g0223	1	248	0.0040	284	c.306 others(301): Show c.306+2378_306+2379insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ADAM9_chr8_38991973_39110261	39045385	G G	GGTGTGTC others(277): Show GGTGTGTCTACACACCTATATGTGCGTGTGTGTACACACACCTATATGTG CGTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATG TGCGTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATA TGTGCGTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTA TATGTGCGTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACC TATATGTGCGTGTGTGTACACACACCTATATGTGC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	332	0.0030	284	c.130 others(303): Show c.1302+3274_1302+3275insCTACACACCTATATGTGCGTGTGTGT ACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGTGT GTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGT GTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGT GTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGC GTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGT GCGTGTGT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS2_chr5_179105853_179350461	179277976	C C	CCGCCCCC others(277): Show CCGCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCC CCCCGCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCTGACCCCC CCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGCTGACCCCCCCCC CGAGACCAAAGGCTGACCCCCCCCCCGAGACCAAAGGCTGACCCCCCCCG AGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAG ACCAAAGGCTGACCCCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18747.hp2 NA18945.hp1 HG00408.hp2 NA18747.hp2 NA18945.hp1	a0003 a0005 a0003 a0005	a0003c0002 a0005c0011 a0003c0002 a0005c0011	a0003c0002t0001 a0005c0011t0003 a0003c0002t0001 a0005c0011t0003	a0003c0002t0001g0001 a0003c0002t0001g0133 a0005c0011t0003g0153 a0003c0002t0001g0001 a0003c0002t0001g0133 a0005c0011t0003g0153	3	276	0.0109	284	c.535 others(301): Show c.535-4913_535-4912insTCAGCCTTTGGTCTCGCGGGGGGTCAGC CTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCT TTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGGTCAGCCTTT GGTCTCGGGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGTCAGCCTTTGG TCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCTTTGGTCT CGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCG GGGGCG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADPRHL1_chr13_113394611_113458488	113418984	C C	CTCCCTCC others(277): Show CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCT TCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCT TCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0045 a0045	a0045c0037 a0045c0037	a0045c0037t0034 a0045c0037t0034	a0045c0037t0034g0073 a0045c0037t0034g0073	1	262	0.0038	284	c.106 others(303): Show c.1061+3841_1061+3842insAGGAAAAGAAGGAAGGGAAGGGGAGG GGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGAAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAA GGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGAAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGG AAGAAAGGAAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AK5_chr1_77277019_77564966	77367840	T T	TATATTAT others(277): Show TATATTATATATAATATATGTTATATATATTATATATAATATATGTTATA TATATTATATATTATATGTTATATATATTATATATAATATATGTTATATA TATTATATATTATATGTTATATATATTATATATAATATGTTATATATTAT ATATAACATGTTATATATAATATATATGTTATATATAATATATGTTATAT ATATTATATATAATATATGTTATATATAATATATATAACATGTTATATAT ATTATATATAACATATGTTATATATAATATATAAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02523.hp1 HG03490.hp1 others(2): Show HG00621.hp2 HG02523.hp1 HG03490.hp1 HG03492.hp1 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0004 a0001c0003 a0002c0002 a0002c0004	a0001c0003t0004 a0001c0003t0021 a0002c0002t0002 others(1): Show a0001c0003t0004 a0001c0003t0021 a0002c0002t0002 a0002c0004t0002	a0001c0003t0004g0236 a0001c0003t0021g0237 a0002c0002t0002g0041 others(2): Show a0001c0003t0004g0236 a0001c0003t0021g0237 a0002c0002t0002g0041 a0002c0004t0002g0238 a0002c0004t0002g0240	5	284	0.0176	284	c.891 others(303): Show c.891+27276_891+27277insTATATATAATATATGTTATATATATT ATATATAATATATGTTATATATATTATATATTATATGTTATATATATTAT ATATAATATATGTTATATATATTATATATTATATGTTATATATATTATAT ATAATATGTTATATATTATATATAACATGTTATATATAATATATATGTTA TATATAATATATGTTATATATATTATATATAATATATGTTATATATAATA TATATAACATGTTATATATATTATATATAACATATGTTATATATAATATA TAACATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AKAP6_chr14_32324298_32842684	32454713	C C	CTCCCTCC others(277): Show CTCCCTCCTTCCCTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTT CTCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCCTCC CTCCTTCTCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCCTCCTT CCCTCCTTCTCTCCTTCCCTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCC TTCTCTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCTT CCCTCCCTCCTTCCCTCCTTCTCTCCTTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0061 a0002c0005t0002g0061	1	154	0.0065	284	c.324 others(303): Show c.324+20899_324+20900insCTCCTTCCCTCCCTCCTTCCCTCCTT CCCTCCTTCCTTCCCTCCTTCTCTCCTTCCCTCCTTCCCTCCTTCCCTCC TTCCCTCCTTCCCTCCCTCCCTCCTTCTCTCCTTCCCTCCTTCCCTCCTT CCCTCCTTCCCTCCCTCCTTCCCTCCTTCTCTCCTTCCCTCCTTCCCTCC TTCCCTCCCTCCTTCCCTCCTTCTCTCCTTCCCTCCCTCCCTCCCTCCTT CCTTCCCTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCTTCTCTCCTTCC CTCCTTCC	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
ANO9_chr11_412938_447011	431500	C C	CGTGGGTA others(277): Show CGTGGGTATCTGGGGGGGCATCTGCGGGGGGTGTGGGGGCGTCCGCGGGT ATCTGGGGGCTTCCGCGGGGGTGTGGGGTCTCCCGTGGGTATCTGGGGGG CGTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCTTCCGTGGG GGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGG CTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGG TATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	286	0.0035	284	c.539 others(299): Show c.539+193_539+194insAGACGCCCCCACACCCCCGCGGAAGCCCCC AGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCAC GGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCC ACACCCCCACGGAAGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGC AGACGCCCCCCAGATACCCACGGGAGACCCCACACCCCCGCGGAAGCCCC CAGATACCCGCGGACGCCCCCACACCCCCCGCAGATGCCCCCCCAGATAC CCAC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ARHGAP28_chr18_6724716_6920716	6909301	T T	TTTTCTTT others(277): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	248	0.0040	284	c.209 others(301): Show c.2095+280_2095+281insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTT	ARHGAP28	ENSG00000088756.13	transcript	ENST00000383472.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARHGAP39_chr8_144524179_144690846	144687263	A A	ACCCCTGT others(277): Show ACCCCTGTGACCACGCACTGGCGGTGAGCACTTCCCACCCCGTGACCACT CATTTACAGCGAGCACTTCTCACCCCCGTGACCACACACTGGCGGCGAGC ACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTG ACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCG GTGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCAC CCCGTGACCACTCATTTACAGCGAGCACTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	246	0.0041	284	c.-16 others(295): Show c.-1660_-1659insGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGG GGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAG TGCTCGCCGCCAGTGTGTGGTCACGGGGGTGAGAAGTGCTCGCTGTAAAT GAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTCACAGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1418		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687550	C C	CCGTGACC others(277): Show CCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACTCATT TACAGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTC CCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCAC ACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAG CACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCTG TGACCACACATTTACAGTGAGCACTTCCCACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0002 a0004c0015t0002	a0004c0015t0002g0195 a0004c0015t0002g0195	1	246	0.0041	284	c.-19 others(295): Show c.-1947_-1946insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGT GCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTG GGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCTGT AAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1705		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687585	C C	CCGTGACC others(277): Show CCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCCGTGACCACACAC TAGCAGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTT CCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACC ACACATTTACAGTGAACACTTCCCACCCCGTGACCACACACTGGCGGTGA GCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCG TGACCACACATTTACAGTGAGCACTTCCCACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	246	0.0041	284	c.-19 others(295): Show c.-1982_-1981insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTG CTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGTTCACTGTAAATGTG TGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGG GAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGCT AGTGTGTGGTCACGGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1740		chr8	TogoVar
ARL13A_chrX_100964708_100995831	100972874	A A	AGTAGGGG others(277): Show AGTAGGGGCGGCCGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGGTGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCT GGCCAGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTGG CCAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	280	0.0036	284	c.-14 others(299): Show c.-14-801_-14-800insTAGGGGCGGCCGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGGTGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGCACGGCTGGCCAGGCGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACCCCTCCACCTCCCTC CCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTC CCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972874	A A	AGTAGGGG others(277): Show AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCT GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTG GCCAGGCGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA19062.hp1 NA20300.hp1 HG01952.hp1 NA19062.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0132 a0001c0001t0001g0020 a0001c0001t0001g0132	3	280	0.0107	284	c.-14 others(299): Show c.-14-801_-14-800insTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGCGCGGCTGGCCAGGCGGGGGCTGACCCCTCCACCTCCCTC CCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTC CCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASB5_chr4_176208673_176274222	176218955	A A	AATATATA others(277): Show AATATATATATTTGTATGATATATAAATATATATATATTTGTATGATATA TAAATATATATATTTGTATGATATATATATTTGTATGATATATAAATATA TATATTTGTATGATATATAAATATATATGTATGATATATAAATATATATT TGTATGATATATAAATATATATATTTGTATGATATATAAATATATATATT TGTATGATATATAAATATATATATTTGTATGATATATAAATATATATATA TTTGTATGATATATAAATATATATATTTGTATGAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01169.hp1 HG00642.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0272 a0001c0002t0001g0273	2	410	0.0049	284	c.671 others(301): Show c.671-1947_671-1946insATCATACAAATATATATATTTATATATC ATACAAATATATATATATTTATATATCATACAAATATATATATTTATATA TCATACAAATATATATATTTATATATCATACAAATATATATATTTATATA TCATACAAATATATATTTATATATCATACATATATATTTATATATCATAC AAATATATATATTTATATATCATACAAATATATATATCATACAAATATAT ATATTTATATATCATACAAATATATATATATTTATATATCATACAAATAT ATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASPG_chr14_104080700_104120582	104085483	A A	ACCCCGCC others(277): Show ACCCCGCCAGGCCCCGCCCCGCACCCCGCCAGGCCCCGCCCCCACCCCGC CAGGCCCCGCCTCTCTCTCCGACCCTGGACAGTCCCCGGGACCCACCCCG CCCCCAGGTCCTGCCCCCGCCCGCCTCCGCGGGGCCTCCCACCCTCCCGG GCAGACTCCACTCCCGCCCCCTCCCCGTGGGTGCCCCCGCCAGGCCCCGC CCCCACCCCGCCAGGCCCCGCCCCACCCCGCCATAACCCGCCCCGCCCCC CGCCAGGCCCCGCCCCGCCCCCGCCAGGCCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00597.hp1 others(73): Show HG00140.hp1 HG00280.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG01516.hp1 HG01891.hp1 HG01928.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02818.hp2 HG03017.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03540.hp1 HG03669.hp2 HG03834.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18951.hp2 NA18971.hp1 NA18979.hp2 NA18993.hp2 NA18995.hp1 NA19003.hp2 NA19005.hp2 NA19012.hp1 NA19030.hp1 NA19065.hp2 NA19066.hp2 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA19089.hp1 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0006 a0001c0007 others(4): Show a0001c0001 a0001c0006 a0001c0007 a0001c0023 a0003c0004 a0003c0026 a0009c0022	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0020 a0001c0006t0002 a0001c0007t0008 a0001c0023t0001 a0003c0004t0003 a0003c0004t0012 a0003c0004t0030 a0003c0026t0003 a0009c0022t0003	a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0070 others(50): Show a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0004g0013 a0001c0001t0004g0024 a0001c0001t0004g0028 a0001c0001t0004g0032 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0090 a0001c0001t0007g0025 a0001c0001t0007g0078 a0001c0001t0020g0005 a0001c0006t0002g0033 a0001c0007t0008g0079 a0001c0007t0008g0080 a0001c0023t0001g0068 a0003c0004t0003g0003 a0003c0004t0003g0007 a0003c0004t0003g0012 a0003c0004t0003g0029 a0003c0004t0003g0030 a0003c0004t0003g0064 a0003c0004t0003g0072 a0003c0004t0003g0073 a0003c0004t0003g0074 a0003c0004t0003g0075 a0003c0004t0003g0076 a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0092 a0003c0004t0003g0093 a0003c0004t0003g0094 a0003c0004t0003g0097 a0003c0004t0003g0098 a0003c0004t0003g0102 a0003c0004t0003g0103 a0003c0004t0003g0104 a0003c0004t0003g0107 a0003c0004t0003g0155 a0003c0004t0003g0251 a0003c0004t0012g0011 a0003c0004t0030g0003 a0003c0026t0003g0084 a0009c0022t0003g0063	76	368	0.2065	284	c.-28 others(293): Show c.-288_-287insCCCCGCCAGGCCCCGCCCCGCACCCCGCCAGGCCCC GCCCCCACCCCGCCAGGCCCCGCCTCTCTCTCCGACCCTGGACAGTCCCC GGGACCCACCCCGCCCCCAGGTCCTGCCCCCGCCCGCCTCCGCGGGGCCT CCCACCCTCCCGGGCAGACTCCACTCCCGCCCCCTCCCCGTGGGTGCCCC CGCCAGGCCCCGCCCCCACCCCGCCAGGCCCCGCCCCACCCCGCCATAAC CCGCCCCGCCCCCCGCCAGGCCCCGCCCCGCCCCCGCCAGGCCCCGCC	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding		216		chr14	TogoVar
ATG5_chr6_106179476_106330760	106251648	G G	GGAGGGAG others(277): Show GGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGAGAGG GAGGGAGGGGGAGGGGGAGAGAGGGAGGGAGGGGGAGAGGGAGAGAGGGA GGGGGAGAGGGAGGGAGGGGGAGAGGGAGGGGGAGAGAGGGAGGGAGGGT AAGAGAGGGAGAGAGGGAGGGGGAGAGAGGGAGGGAGGGAGAGAGAGGGA GAGAGGGAGGGGGGAGAAAGGAGGGGGAGGGGGAGAGAGGGAGGGTGGGG AGGGAGGGAGGGGGAGGGAGGGAGGGAGGGGGAGA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0052 a0002c0002t0001g0052	1	358	0.0028	284	c.479 others(301): Show c.479-3405_479-3404insTCTCCCCCTCCCTCCCTCCCTCCCCCTC CCTCCCTCCCCACCCTCCCTCTCTCCCCCTCCCCCTCCTTTCTCCCCCCT CCCTCTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCCTCCCTCTCTCC CTCTCTTACCCTCCCTCCCTCTCTCCCCCTCCCTCTCCCCCTCCCTCCCT CTCCCCCTCCCTCTCTCCCTCTCCCCCTCCCTCCCTCTCTCCCCCTCCCC CTCCCTCCCTCTCTCCCTTCTCCCTCTCTCCGCCTCCCTCCCTCCCTCCC TCCCTC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(277): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCCACCCCCC ACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCCACC TCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCCCCACCTCCCCCAC CCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCCCA CCTCCCCCCACCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACC CCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0209 a0001c0002t0016g0209	1	254	0.0039	284	c.39+ others(301): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCC ACCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCC ACCCACCTCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCCCCACCT CCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCCCA CCCCCCACCTCCCCCCACCCCCCACCCCCTACCCCCCACCCCCCACCTCC CCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCCACCT CCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
BRSK2_chr11_1384934_1467689	1432243	G G	GGGTCTGG others(277): Show GGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGG GGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp2 HG03486.hp2 others(1): Show HG01243.hp1 HG02257.hp2 HG03486.hp2 HG04184.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0015 a0001c0001 a0012c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0027 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0027 a0012c0015t0008	a0001c0001t0001g0049 a0001c0001t0004g0051 a0001c0001t0027g0129 others(1): Show a0001c0001t0001g0049 a0001c0001t0004g0051 a0001c0001t0027g0129 a0012c0015t0008g0178	4	360	0.0111	284	c.92- others(299): Show c.92-3748_92-3747insGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCT GCGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BSN_chr3_49549477_49676549	49606254	A A	ATACATAT others(277): Show ATACATATATTATATATGTGTATATATTATATATACATATATTATATATG TATATATTATATATACATATATTATATATGTATATATTATATATACATAT ATTATATATGTATATATTATATATACATATATTATATATGTATATATTAT ATATAAAATATATATAATATATATTAAAAATATATATTATATATATTAAA AATATATATTATATATATTAAAAATATATATTATATATATTAAAATATAT ATATAATATATATTAAAAATATATATTATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0013 a0003c0003t0004g0013	1	186	0.0054	284	c.225 others(303): Show c.225-18719_225-18718insCATATATTATATATGTGTATATATTA TATATACATATATTATATATGTATATATTATATATACATATATTATATAT GTATATATTATATATACATATATTATATATGTATATATTATATATACATA TATTATATATGTATATATTATATATAAAATATATATAATATATATTAAAA ATATATATTATATATATTAAAAATATATATTATATATATTAAAAATATAT ATTATATATATTAAAATATATATATAATATATATTAAAAATATATATTAT ATATATTA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
C10orf90_chr10_126419997_126675693	126564835	T T	TATATATA others(277): Show TATATATATAATATATATAATATATAATATATATTATATATAATATATAT TATATATAATATATAATATATATTATATATAATATATATTATATATAATA TATATTATATATAATATATATTATATATAATATATATTATATATTATATA AAATATATATTATATATAATATATATTATATATTATATATAATATATAAT ATATATTATATATAATATATATTATATAAAATATATATTATATATAATAT ATATTTTATATATTATATAATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0105 a0003c0002t0001g0106 a0003c0002t0001g0105 a0003c0002t0001g0106	2	218	0.0092	284	c.314 others(303): Show c.314-50897_314-50896insTATATATAATATATATTATATAATAT ATAAAATATATATTATATATAATATATATTTTATATAATATATATTATAT ATAATATATATTATATATTATATATAATATATAATATATATTATATATAA TATATATTTTATATAATATATAATATATATTATATATAATATATATTATA TATAATATATATTATATATAATATATATTATATATAATATATATTATATA TTATATATAATATATATTATATATAATATATATTATATATTATATATATT ATATATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C1orf21_chr1_184382029_184634019	184410630	T T	TAATATAT others(277): Show TAATATATATATATTATATATATATAATATATATATATTATATATATATA TAATATATATATATTATATATATATAATATATATATATTATATATATATA ATATATATATATAATATATATATATTATATATATATATTATATATATATA TAATATATATATATTATATATATATAATATATATAATATATATATATTAT ATATATATAATATATATATATTATATATATATAATATATATATATAATAT ATATATATTATATATATATATTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	232	0.0043	284	c.-12 others(305): Show c.-125+23263_-125+23264insATATATATATATTATATATATATA ATATATATATATTATATATATATATAATATATATATATTATATATATATA ATATATATATATTATATATATATAATATATATATATAATATATATATATT ATATATATATATTATATATATATATAATATATATATATTATATATATATA ATATATATAATATATATATATTATATATATATAATATATATATATTATAT ATATATAATATATATATATAATATATATATATTATATATATATATTATAT ATATATATAA	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C20orf96_chr20_265863_295750	279065	A A	AGGGCGGG others(277): Show AGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAAGGAGGGC GGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGG GAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGAGGGAGGGAGGGACG GAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAG GGAGGGAGGGCGGGAGGGATGGAGGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0001 a0007c0020t0001	a0007c0020t0001g0063 a0007c0020t0001g0063	1	410	0.0024	284	c.465 others(299): Show c.465+106_465+107insGCCCTCCCTCCCTCCATCCCTCCCGCCCTC CCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCG CCCTCCGTCCCTCCCTCCCTCCTCCCTCCGTCCCGCCCTCCCTCCCTCCG CCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCC GTCCCGCCCTCCTTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTC CCTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCCTCCC GCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2CD4C_chr19_400445_414147	404254	G G	GGGGTGGG others(277): Show GGGGTGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGTGGGGACGGGG CCCTGCCCCGAGGGGTGTGGGGGGTGGGGACGGGGCCCTGCCCCGAGGGG TGTGGGGGGTGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGTGGGGA CGGGGCCCTGCCCCGAGGGGTGTGGGGGGTGGGGACGGGGCCCTGCCCCG AGGGGTGTGGGGGGTGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGT GGGGACGGGGCCCTGCCCCGAGGGGTGTGTGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0069 a0001c0002t0069	a0001c0002t0069g0136 a0001c0002t0069g0136	1	322	0.0031	284	c.28 others(295): Show c.2841_*2842insACCCCACACACCCCTCGGGGCAGGGCCCCGTCCC CACCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCACCCCCCACACCCC TCGGGGCAGGGCCCCGTCCCCACCCCCCACACCCCTCGGGGCAGGGCCCC GTCCCCACCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCACCCCCCAC ACCCCTCGGGGCAGGGCCCCGTCCCCACCCCCCACACCCCTCGGGGCAGG GCCCCGTCCCCACCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCACCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1190		chr19	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(277): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTC CTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTCTC TTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTCCTT CCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0204 a0001c0002t0002g0204	1	236	0.0042	284	c.482 others(301): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTC CTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCC TCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTT CCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(277): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTC CTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTCTC TTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTCCTT CCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0024 a0024	a0024c0048 a0024c0048	a0024c0048t0007 a0024c0048t0007	a0024c0048t0007g0149 a0024c0048t0007g0149	1	236	0.0042	284	c.482 others(301): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTC CTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCC TCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTT CCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(277): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTC CTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTCTCTTTC TTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT CCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0186 a0001c0002t0003g0186	1	236	0.0042	284	c.482 others(301): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCTTCCT TCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTC CTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCC TCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTT CCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(277): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTC CTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTCTC TTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTCCTT CCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00609.hp2 others(12): Show HG00408.hp1 HG00408.hp2 HG00609.hp2 HG01943.hp1 HG02083.hp2 HG02683.hp1 HG03492.hp2 HG04184.hp2 NA18947.hp1 NA18954.hp1 NA18969.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19091.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0009 a0016	a0001c0002 a0001c0059 a0002c0003 others(4): Show a0001c0002 a0001c0059 a0002c0003 a0004c0007 a0006c0031 a0009c0030 a0016c0057	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(8): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0059t0003 a0002c0003t0001 a0004c0007t0037 a0006c0031t0002 a0009c0030t0002 a0009c0030t0003 a0016c0057t0002	a0001c0002t0002g0189 a0001c0002t0002g0192 a0001c0002t0002g0193 others(12): Show a0001c0002t0002g0189 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0206 a0001c0002t0003g0212 a0001c0002t0004g0187 a0001c0002t0004g0233 a0001c0002t0007g0214 a0001c0059t0003g0201 a0002c0003t0001g0156 a0004c0007t0037g0216 a0006c0031t0002g0221 a0009c0030t0002g0213 a0009c0030t0003g0183 a0016c0057t0002g0211	15	236	0.0636	284	c.482 others(301): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTC CTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCC TCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTT CCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(277): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTC CTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTCTC TTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTCCTT CCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0223 a0001c0002t0002g0223	1	236	0.0042	284	c.482 others(301): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTC CTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCC TCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTT CCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CALN1_chr7_71774491_72417338	72209229	T T	TTTCCTTC others(277): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCC TCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCT TCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTC CCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCC TCCTTCCCTCTTTCCTTCCCTCTTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp2 HG02451.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0043 a0001c0001t0001 a0001c0001t0043	a0001c0001t0001g0061 a0001c0001t0043g0064 a0001c0001t0001g0061 a0001c0001t0043g0064	2	142	0.0141	284	c.244 others(303): Show c.244+69456_244+69457insGGAGGGAAGGAAAGAGGGAAGGAAAG AGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAG GGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGG AAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAAAGAGGGAA GGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGG AGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAG GGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAAG others(277): Show GGGGAAAGGGGGAGGGGAAGTGGGGGGGAAGGGGGAGGGGAGTGGGGGGA AGGGGGAGGGGAGTGGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGG GGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGG AAGGGAGGGGAGTGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGA GTGGGGGAGGGGAGTGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGG GGGGAGGGGGGCAGGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0211 a0001c0001t0007g0211	1	340	0.0029	284	c.104 others(303): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCACTCCC CTCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCACTC CCCTCCCTTCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCC CCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCCACTCC CCTCCCCCTTCCCCCCACTCCCCTCCCCCTTCCCCCCCACTTCCCCTCCC CCTTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAMSAP2_chr1_200733893_200865704	200816782	A A	ATGTGTGT others(277): Show ATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGT GTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGT GTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGC GTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACAC GCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACAC ACGCGTGTGTATGTGTGTACACACACACGCGTGTG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	366	0.0027	284	c.645 others(301): Show c.645+1139_645+1140insGTGTGTACACACACACGCGTGTGTATGT GTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTAT GTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGT ATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGT GTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGT GTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGC GTGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816965	T T	TATGTGTG others(277): Show TATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTA TGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATG TGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTG TGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTG TACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTA CACACACGCGCGTGTATGTGTGTACACACACGCGC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	366	0.0027	284	c.645 others(301): Show c.645+1321_645+1322insATGTGTGTACACACACGCGCGTGTATGT GTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGT GTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGT ACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTAC ACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACAC ACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACAC ACGCGC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16			chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816966	G G	GTATGTGC others(277): Show GTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGT GTGTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGC GTGTGTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACAC GCGTGTGTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACAC ACGCGTGTGTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACAC ACACGCGTGTGTATGTGCGTACACACACACGCGTA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	366	0.0027	284	c.645 others(301): Show c.645+1328_645+1329insCGTACACACACACGCGTGTGTATGTGCG TACACACACACGCGTGTGTATGTGCGTACACACACACGCGTGTGTATGTG CGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGTGTGTATG TGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGTGTGTA TGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGTGTG TATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGTA TATGTG	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar

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