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
CNTNAP2_chr7_146111801_148425998	146721529	C C	CTATATAT others(225): Show CTATATATACATTCTATATATATTCTATATATACATTCTATATATATTCT ATATACATTCTATATATATTCTATATACATTCTATATATATATTCTATAT ACATTCTATATATATATTCTATATACATTCTATATACATTCTATATATAT TCTATATATATTCTATATACATTCTATATATATTCTATATATACATTCTA TATATATTCTATATACATTCTATATATATTCTA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp2 HG02897.hp2 others(1): Show HG02630.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0003 a0001c0004t0005 a0001c0012t0004 a0001c0004t0003 a0001c0004t0005 a0001c0012t0004	a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0005g0004 others(1): Show a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0005g0004 a0001c0012t0004g0026	4	40	0.1000	232	c.98- others(249): Show c.98-52736_98-52735insTACATTCTATATATATTCTATATATACA TTCTATATATATTCTATATACATTCTATATATATTCTATATACATTCTAT ATATATATTCTATATACATTCTATATATATATTCTATATACATTCTATAT ACATTCTATATATATTCTATATATATTCTATATACATTCTATATATATTC TATATATACATTCTATATATATTCTATATACATTCTATATATATTCTATA TATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(225): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCG GGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGC GGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGC GGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA19043.hp2 HG01099.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0083 a0001c0001t0001g0084	2	290	0.0069	232	c.-11 others(247): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGAGTGTGGG GGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGG GGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGG GGGGAGGGGAGTGCGGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGG GGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGG GG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(225): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCG GGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGGAGGGGAGTG CGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGC GGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01934.hp2 HG02083.hp2 others(2): Show HG00140.hp1 HG01934.hp2 HG02083.hp2 HG03927.hp1 HG03927.hp2	a0001 a0020 a0001 a0020	a0001c0001 a0020c0037 a0001c0001 a0020c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0028 a0020c0037t0001	a0001c0001t0001g0089 a0001c0001t0002g0085 a0001c0001t0008g0087 others(2): Show a0001c0001t0001g0089 a0001c0001t0002g0085 a0001c0001t0008g0087 a0001c0001t0028g0086 a0020c0037t0001g0088	5	290	0.0172	232	c.-11 others(247): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGAGTGTGGG GGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGG GGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGG GGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGG GG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(225): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCG GGGGAAGGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTG CGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGC GGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	290	0.0035	232	c.-11 others(247): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGAGTGTGGG GGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGG GGAGGGGGAGTGCGGGGGAAGGGGGGAGTGCGGGGGGAGGGGGAGTGTGG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGG GGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGG GG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(225): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCG GGGGAAGGGGGAGTGCGGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTG CGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGC GGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	290	0.0035	232	c.-11 others(247): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGG GGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGGAGGGGGAGTGTGG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGG GGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGG GG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(225): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGGAGGGGGAGTGCGGGGGGAGGGGGAGTGC GGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTG CGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGC GGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0013 a0001c0009t0013	a0001c0009t0013g0221 a0001c0009t0013g0221	1	290	0.0035	232	c.-11 others(247): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGGAGGGGGAGTGCGGG GGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGG GGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGG GG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(225): Show CGGGGGGAGGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGC GGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGC GGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTG CGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGC GGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	290	0.0035	232	c.-11 others(247): Show c.-11+902_-11+903insGAGGGGGGAGTGCGGGGGAGGGGAGTGTGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGG GGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGG GGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGG GG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL4A1_chr13_110143963_110312157	110255786	A A	AAGGGGGA others(225): Show AAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0081 a0003c0081	a0003c0081t0009 a0003c0081t0009	a0003c0081t0009g0183 a0003c0081t0009g0183	1	344	0.0029	232	c.85- others(249): Show c.85-13053_85-13052insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCC CCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227203018	T T	TATATATA others(225): Show TATATATACACATATATGTGTATATATACATATATGTGTATATATGTGTA TATATACATATATGTGTATATATACATATATGTGTATATATGTGTATATA TACATATATGTGTATATATACATATATGTGTATATATACATATATGTGTA TATATGTGTATATATACATATATATACATATATGTGTATATATACGTATA TATACATATATGTGTATATATACGTATATATAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02683.hp1 HG03654.hp2 others(3): Show HG01192.hp2 HG02683.hp1 HG03654.hp2 HG06807.hp1 NA20752.hp2 NA20905.hp2	a0001 a0004 a0009 others(1): Show a0001 a0004 a0009 a0016	a0001c0001 a0004c0003 a0009c0008 others(1): Show a0001c0001 a0004c0003 a0009c0008 a0016c0024	a0001c0001t0002 a0004c0003t0004 a0009c0008t0001 others(1): Show a0001c0001t0002 a0004c0003t0004 a0009c0008t0001 a0016c0024t0002	a0001c0001t0002g0033 a0001c0001t0002g0172 a0004c0003t0004g0317 others(3): Show a0001c0001t0002g0033 a0001c0001t0002g0172 a0004c0003t0004g0317 a0009c0008t0001g0187 a0016c0024t0002g0232 a0016c0024t0002g0294	6	344	0.0174	232	c.88- others(249): Show c.88-34944_88-34943insACACATATATGTGTATATATACATATAT GTGTATATATGTGTATATATACATATATGTGTATATATACATATATGTGT ATATATGTGTATATATACATATATGTGTATATATACATATATGTGTATAT ATACATATATGTGTATATATGTGTATATATACATATATATACATATATGT GTATATATACGTATATATACATATATGTGTATATATACGTATATATACAT ATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203046	T T	TATATATA others(225): Show TATATATACACATATATGTGTATATATACATATATGTGTATATATGTGTA TATATACATATATGTGTATATATACATATATGTGTATATATGTGTATATA TACATATATGTGTATATATACATATATGTGTATATATACATATATGTGTA TATATGTGTATATATACATATATATACATATATGTGTATATATACGTATA TATACATATATGTGTATATATACGTATATATAC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0223 a0005c0005t0002g0223	1	344	0.0029	232	c.88- others(249): Show c.88-34916_88-34915insACACATATATGTGTATATATACATATAT GTGTATATATGTGTATATATACATATATGTGTATATATACATATATGTGT ATATATGTGTATATATACATATATGTGTATATATACATATATGTGTATAT ATACATATATGTGTATATATGTGTATATATACATATATATACATATATGT GTATATATACGTATATATACATATATGTGTATATATACGTATATATACAT ATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL6A2_chr21_46093112_46134801	46133780	G G	GGGATGAG others(225): Show GGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCAGG ATGAGCTCACCCGAGTCACACTGGGCCAGGGCTCAGCCTGCTCTAGAATA CCTCACCTAAGTCACACTGGACCAGGGCTCAGCCTGCTCTAAGGTGAGCT CACCCGAGACACTGGGCCAGAGATCAGCCTATTCTGGGATGAGCTCATCC GAGTCACACTGGGCCAGGGCTCAGCCTATTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 NA19043.hp1 HG02630.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0253 a0001c0002t0002g0254	2	372	0.0054	232	c.42 others(243): Show c.4289_*4290insGGATGAGCTCACCCGAGTCACACTGGACCAGGGC TCAGCCTATTCCAGGATGAGCTCACCCGAGTCACACTGGGCCAGGGCTCA GCCTGCTCTAGAATACCTCACCTAAGTCACACTGGACCAGGGCTCAGCCT GCTCTAAGGTGAGCTCACCCGAGACACTGGGCCAGAGATCAGCCTATTCT GGGATGAGCTCATCCGAGTCACACTGGGCCAGGGCTCAGCCTATTCCA	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		3980		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46133780	G G	GGGATGAG others(225): Show GGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCAGG ATGAGCTCACCCGAGTCACACTGGGCCAGGGCTCAGCCTGCTCTAGAATA CCTCACCTAAGTCACACTGGACCAGGGCTCAGCCTGCTCTAAGGTGAGCT CACCCGAGACACTGGGCCAGAGATCAGCCTATTCTGGGATGAGCTCATCC GAGTCACACTGGGCCAGGGCTCAGCCTATTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 NA19043.hp1 HG02630.hp1 NA19043.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0250 a0001c0023t0001g0251 a0001c0023t0001g0250 a0001c0023t0001g0251	2	364	0.0055	232	c.12 others(243): Show c.1228_*1229insGGATGAGCTCACCCGAGTCACACTGGACCAGGGC TCAGCCTATTCCAGGATGAGCTCACCCGAGTCACACTGGGCCAGGGCTCA GCCTGCTCTAGAATACCTCACCTAAGTCACACTGGACCAGGGCTCAGCCT GCTCTAAGGTGAGCTCACCCGAGACACTGGGCCAGAGATCAGCCTATTCT GGGATGAGCTCATCCGAGTCACACTGGGCCAGGGCTCAGCCTATTCCA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		933		chr21	TogoVar
COP1_chr1_175939831_176212286	176133018	T T	TATACACA others(225): Show TATACACATATGTACGTATATATACTATATATACACACATATACACATAT GTACGTATATATACTATATATACACACATATACACATATGTACGTATATA TACTATATATACACACATATACACATATGTACGTATATATACTATATATA CACACATATACACATATGTACGTATATATACTATATATACACACATATAC ACATATGTACGTATATATACTATATATACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	300	0.0033	232	c.968 others(249): Show c.968+1991_968+1992insGTGTGTATATATAGTATATATACGTACA TATGTGTATATGTGTGTATATATAGTATATATACGTACATATGTGTATAT GTGTGTATATATAGTATATATACGTACATATGTGTATATGTGTGTATATA TAGTATATATACGTACATATGTGTATATGTGTGTATATATAGTATATATA CGTACATATGTGTATATGTGTGTATATATAGTATATATACGTACATATGT GTAT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	8/19			chr1	TogoVar
COQ8A_chr1_226935294_226992544	226956521	C C	CCCACTCC others(225): Show CCCACTCCCTGGTTCACACTCTCCCTGGCTCCCACTCTCCCTGGTTCACA CTCTCCCTGGCTCCCACTCCCTGGTTCACACTCTCCCTGGCTCTCACTCT CCCTGGTTCACACTCTCCCTGGCTGCCACTCTCCCTGGCTGCCACTCCCT GGTTCACACTCTCCCTGGCTCCCACTCTCCCTGGTTCACACTCTCCCTGG CTGCCACTCCCTGGTTCACACTCTCCCTGGCTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	412	0.0024	232	c.-9- others(247): Show c.-9-4814_-9-4583dupGGTTCACACTCTCCCTGGCTCCCACTCCCT GGTTCACACTCTCCCTGGCTCTCACTCTCCCTGGTTCACACTCTCCCTGG CTGCCACTCTCCCTGGCTGCCACTCCCTGGTTCACACTCTCCCTGGCTCC CACTCTCCCTGGTTCACACTCTCCCTGGCTGCCACTCCCTGGTTCACACT CTCCCTGGCTGCCACTCCCTGGTTCACACTCTCCCTGGCTCCCACTCTCC CT	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1L_chr1_207640133_207728703	207686116	C C	CTCCCTCC others(225): Show CTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCT CCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCA	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18988.hp1 NA18988.hp2 HG02523.hp1 NA18988.hp1 NA18988.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0003c0008t0001 a0001c0001t0001 a0003c0008t0001	a0001c0001t0001g0238 a0001c0001t0001g0245 a0003c0008t0001g0188 a0001c0001t0001g0238 a0001c0001t0001g0245 a0003c0008t0001g0188	3	346	0.0087	232	c.463 others(249): Show c.463+2168_463+2169insCCCTTCCTTCCTTCCTCCCTCCCTCCAT CCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT TCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCT CCCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(225): Show ATATATATATATATATATATATTTCTATATATATATATATTTCTATATAT ATATATATATATATATTTCTATATATATATATATATATATTTCTATATAT ATATATATATTTCTATATATATATATATTTCTATATATATATATTTCTAT ATATATATATTTCTATATATATATATTTCTATATATATATATTTCTATAT ATATATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0349 a0001c0001t0001g0349	1	370	0.0027	232	c.56 others(243): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATTTCTATATATATATATATATATATATTTCTATATATATATATATA TATATTTCTATATATATATATATATTTCTATATATATATATATTTCTATA TATATATATTTCTATATATATATATTTCTATATATATATATTTCTATATA TATATATTTCTATATATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CSMD3_chr8_112217928_113441939	112410624	A A	ATATGTGT others(225): Show ATATGTGTATATATATATGTATATATATATGTGTATATATATATGTATAT ATATGTGTGTATATATATGTATATATATGTGTATATATATGTATATATAT ATGTGTATATATATATGTATATATATATGTGTATATATATATGTATATAT ATATGTGTATATATATATGTATATATATATGTGTATATATATATGTATAT ATATATGTGTATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	80	0.0125	232	c.539 others(251): Show c.5396-1593_5396-1592insCATATATATATACATATATATATACA CATATATATATACATATATATATACACATATATATATACATATATATATA CACATATATATATACATATATATATACACATATATATATACATATATATA TACACATATATATATACATATATATACACATATATATACATATATATACA CACATATATATACATATATATATACACATATATATATACATATATATATA CACATA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	32/70			chr8	TogoVar
CTSD_chr11_1747755_1768927	1754533	A A	AGGGATGG others(225): Show AGGGATGGAGGGGATGGAGGGATGGAGGGGATGGAGGAATGGAGGAGATG GAGGGTCATGAAGAGTCACAGAGGGATGAGGGGATGGAGGGATGGAGGGA TGGAGGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGAGATGGAGGG TCATGAAGAGTCACAGAGGGATGAGGGGATGGAGGGATGGAGGGATGGAG GGGATGTGGGGATGGAGGGATGGAGGGATGGAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	386	0.0026	232	c.827 others(247): Show c.827+372_827+373insCTCCATCCCTCCATCCCTCCATCCCCACAT CCCCTCCATCCCTCCATCCCTCCATCCCCTCATCCCTCTGTGACTCTTCA TGACCCTCCATCTCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCCT CCATCCCTCCATCCCTCCATCCCCTCATCCCTCTGTGACTCTTCATGACC CTCCATCTCCTCCATTCCTCCATCCCCTCCATCCCTCCATCCCCTCCATC CC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(225): Show ATATATTATATATTATATGTATATTATGTATACATAATATATATTATATG TATATTATGTATACATAATATATTATATATTATATGTATATTATGTATAC ATAATATATTATATATTATATGTATATTATGTATACATAATATTTATATA TTATATGTATATTATGTATACATAATATATTATATATTATATGTATATTA TGTATACATAATATTTATATATTATATGTATAT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0266 a0001c0001t0003g0266	1	344	0.0029	232	c.896 others(249): Show c.896+3642_896+3643insATATACATATAATATATAAATATTATGT ATACATAATATACATATAATATATAATATATTATGTATACATAATATACA TATAATATATAAATATTATGTATACATAATATACATATAATATATAATAT ATTATGTATACATAATATACATATAATATATAATATATTATGTATACATA ATATACATATAATATATATTATGTATACATAATATACATATAATATATAA TATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CUL4A_chr13_113204613_113272108	113232154	G G	GTCACCAC others(225): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCA CCATTACTGTCACCACCACCCGCCCACCACCATTACTGCTGTCACCACTA CCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0145 a0001c0001t0006g0145	1	396	0.0025	232	c.513 others(249): Show c.513-1023_513-1022insTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCTGCCCACCACCATTACTGTCACCACCACCCGCCCACCA CCATTACTGCTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232186	G G	GTCACCAC others(225): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGCTGCCACCACTACCTGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0063	1	396	0.0025	232	c.513 others(247): Show c.513-991_513-990insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCAT TA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232186	G G	GTCACCAC others(225): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGCTGCCACCACTACCTGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0336 a0002c0002t0001g0336	1	396	0.0025	232	c.513 others(247): Show c.513-991_513-990insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC TGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCAT TA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232218	G G	GTCACCAC others(225): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGCTGCCACCACTACCTGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0213 a0001c0001t0008g0213	1	396	0.0025	232	c.513 others(247): Show c.513-959_513-958insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCA CCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCAT TA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GTCACCAC others(225): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGCTGCCACCACTACCTGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG03654.hp2 HG02004.hp1 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0080 a0002c0002t0001g0072 a0002c0002t0001g0080	2	396	0.0051	232	c.513 others(247): Show c.513-927_513-926insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCAT TA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GTCACCAC others(225): Show GTCACCACTACCCGCCCACCACTATTACTGTCACCACCACCCGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATT ACTGTCACCACCACCCGCCTACCACTGTTACTA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0369 a0001c0001t0007g0369	1	396	0.0025	232	c.513 others(247): Show c.513-927_513-926insTCACCACTACCCGCCCACCACTATTACTGT CACCACCACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCTGCCCACCACCATTACTGTCACCACCACCCGCCTACCACTGTTAC TA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(225): Show ATATATATGTGTGTATATATATATATATATATATATATATGTGTATATAT ATATATATATATATATGTGTATATATATATATATATATATGTGTATATAT ATATATATATATATGTGTATATATATATATATATATATATGTGTATATAT ATATATATATATATATATATATGTGTATATATATATATATATATATATAT ATGTGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0018 a0005c0007t0018	a0005c0007t0018g0235 a0005c0007t0018g0235	1	334	0.0030	232	c.290 others(247): Show c.290-150_290-149insTATATGTGTGTATATATATATATATATATA TATATATGTGTATATATATATATATATATATATGTGTATATATATATATA TATATATGTGTATATATATATATATATATATGTGTATATATATATATATA TATATATGTGTATATATATATATATATATATATATATATGTGTATATATA TATATATATATATATATATGTGTATATATATATATATATATATATATATG TA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATGT others(225): Show ATATATGTGTGTATATATATATATATATATATATATATGTGTATATATAT ATATATATATATGTGTATATATATATATATATATATATATGTGTATATAT ATATATATATATATATGTGTATATATATATATATATATGTGTATATATAT ATATATATATATATATATATATGTGTATATATATATATATATATATATAT ATGTGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0104 a0002c0002t0104	a0002c0002t0104g0243 a0002c0002t0104g0243	1	334	0.0030	232	c.290 others(247): Show c.290-150_290-149insTATGTGTGTATATATATATATATATATATA TATATGTGTATATATATATATATATATATGTGTATATATATATATATATA TATATATGTGTATATATATATATATATATATATGTGTATATATATATATA TATATGTGTATATATATATATATATATATATATATATATGTGTATATATA TATATATATATATATATATGTGTATATATATATATATATATATATATATG TA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATGT others(225): Show ATATATGTGTGTATATATATATATATATATATATATGTGTATATATATAT ATATATATATATATGTGTATATATATATATATATATATATATGTGTATAT ATATATATATATATGTGTATATATATATATATATATATATGTGTATATAT ATATATATATATATATATATATGTGTGTATATATATATATATATATATAT GTGTATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0164 a0002c0002t0164	a0002c0002t0164g0246 a0002c0002t0164g0246	1	334	0.0030	232	c.290 others(247): Show c.290-150_290-149insTATGTGTGTATATATATATATATATATATA TATGTGTATATATATATATATATATATATATGTGTATATATATATATATA TATATATATGTGTATATATATATATATATATGTGTATATATATATATATA TATATATGTGTATATATATATATATATATATATATATATGTGTGTATATA TATATATATATATATATGTGTATATATATATATATATATATATATATATG TA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DECR2_chr16_396885_417482	397703	G G	GGAGGTGT others(225): Show GGAGGTGTGGGGGGGGTGAGGGACGTGGGAGGGTGGGGGTGGGGGGTGTG AGGGGGTGGGGGTGGGGTGGGGTGAGGGGGGTGAGGGAGTCGGGGAGGGG TGGGGGGTGGAGGGTGGGGTGGGGGGGTAGGGGGTGGGAGGGTCGGGGAG TGGGGGGTGGGGTGGCGGTGGGGTGGGGGTGGGGGTGAGGGAGTCGGGGG GTGAGGGAGAGGGGGGTGAGGGAGTCGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	367	0.0027	232	c.-42 others(243): Show c.-4261_-4260insGAGGTGTGGGGGGGGTGAGGGACGTGGGAGGGTG GGGGTGGGGGGTGTGAGGGGGTGGGGGTGGGGTGGGGTGAGGGGGGTGAG GGAGTCGGGGAGGGGTGGGGGGTGGAGGGTGGGGTGGGGGGGTAGGGGGT GGGAGGGTCGGGGAGTGGGGGGTGGGGTGGCGGTGGGGTGGGGGTGGGGG TGAGGGAGTCGGGGGGTGAGGGAGAGGGGGGTGAGGGAGTCGGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4181		chr16	TogoVar
DGKI_chr7_137376037_137851974	137472306	G G	GTATATAC others(225): Show GTATATACATATAATATAATATGTATATACATATAATATTATATGTATAT ACATTAAATATTATATGTATATATATAATATTATATGTATATATACATAT AATTATTATATGTATATATACATATAATTATTATATGTATATATACATAA TATATGTATATATACATATAATTATTATATGTATATATACATATAATTAT TATATGTATATATACATATAATTATTATATGTA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18992.hp1 NA18979.hp2 NA18992.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0024 a0001c0015t0027 a0001c0015t0024 a0001c0015t0027	a0001c0015t0024g0063 a0001c0015t0027g0033 a0001c0015t0024g0063 a0001c0015t0027g0033	2	94	0.0213	232	c.237 others(251): Show c.2374-2688_2374-2687insTACATATAATAATTATATGTATATAT ACATATAATAATTATATGTATATATACATATAATAATTATATGTATATAT ACATATATTATGTATATATACATATAATAATTATATGTATATATACATAT AATAATTATATGTATATATACATATAATATTATATATATACATATAATAT TTAATGTATATACATATAATATTATATGTATATACATATTATATTATATG TATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	23/32			chr7	TogoVar
DHX40_chr17_59560610_59613345	59569699	A A	AAATATAT others(225): Show AAATATATATATCTATATATATATCTATATATATATATAGATATATATAT AATATATATATCTGTATATATATATAGATATATATATAATATATATATCT AGATATATATATAGATATATATATTATATATATATCTATATATATATATA GATATATATATTATATATATATCTATATATATATAGATATATATATAATA TATATATCTATATATATATATAGATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	324	0.0031	232	c.281 others(247): Show c.281-819_281-818insAATATATATATCTATATATATATCTATATA TATATATAGATATATATATAATATATATATCTGTATATATATATAGATAT ATATATAATATATATATCTAGATATATATATAGATATATATATTATATAT ATATCTATATATATATATAGATATATATATTATATATATATCTATATATA TATAGATATATATATAATATATATATCTATATATATATATAGATATATAT AT	DHX40	ENSG00000108406.10	transcript	ENST00000251241.9	protein_coding	2/17			chr17	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCACCCCA others(225): Show CCACCCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCACCCCCA CCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCACCCCCACC CCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCC CACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCAC CCCCACCCCCACCCCCACCCCCACCCCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0235 a0003c0003t0001g0235	1	320	0.0031	232	c.39 others(243): Show c.3990_*3991insAGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGG GGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGG GTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGGGGGT GGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2500		chr20	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(225): Show TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	284	0.0035	232	c.101 others(251): Show c.101-32145_101-32144insCTCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	478386	G G	GGGAAGAA others(225): Show GGGAAGAAGAAGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGA GAAGGGAGAAGAAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGAGGAAGGGAGGGGAAGGGAGGGGAGAGGAGGAGAGAAGGAGAGGGGC GGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGC GGGGCGGGGCGGGGCAGGGAGGGGAGGGGCGAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	88	0.0114	232	c.158 others(249): Show c.158-5838_158-5837insTTCGCCCCTCCCCTCCCTGCCCCGCCCC GCCCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCC GCCCCGCCCCTCTCCTTCTCTCCTCCTCTCCCCTCCCTTCCCCTCCCTTC CTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCTTCTTCTC CCTTCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCTTCTTC TTCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478386	G G	GGGAAGAA others(225): Show GGGAAGAAGAAGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGA GAAGGGAGAAGAAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAAGGGAGGGGAAGGGAGGGGAGAGGAGGA GAGAAGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGC GGGGCGGGGCGGGGCAGGGAGGGGAGGGGCGAA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0017 a0001c0005t0002g0017	1	88	0.0114	232	c.158 others(249): Show c.158-5838_158-5837insTTCGCCCCTCCCCTCCCTGCCCCGCCCC GCCCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCC TTCTCTCCTCCTCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCTTCTTCTC CCTTCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCTTCTTC TTCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1164213	C C	CCTCGTTT others(225): Show CCTCGTTTTGGTTTGTGGGGACTGATTGTGAGCCCCCCAGGGTTTGTTTT CGTTTGTGGGGATAGATTTTTCTGTGAGCCCCCAGGGCCTGTCGTTTTGG TTTGTGGGGATTTTTCTGTGAGCCCCCAGGGCCCGTCATTTTGGTTTGTG GGGACAGATTTTTCTGTGAGCCCCCCCAGGGCCCCTCGTTTTGGTTTGTG GGGACAGATTTTTCTGTGAGCCCCCCAGGGCCT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0022 a0002c0001t0003g0022	1	40	0.0250	232	c.74- others(249): Show c.74-94638_74-94637insCTCGTTTTGGTTTGTGGGGACTGATTGT GAGCCCCCCAGGGTTTGTTTTCGTTTGTGGGGATAGATTTTTCTGTGAGC CCCCAGGGCCTGTCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCAG GGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCCCAG GGCCCCTCGTTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCCAGG GCCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DMD_chrX_31114222_33216549	33010066	A A	ACACATGT others(225): Show ACACATGTGTGTGTACATGTGTATATACACATGTGTGTGTACATGTGTAT GTACACATGTGTGTGTACATGTGTATGTACACATGTGTGTGTACATGTGT ATGTACACATGTGTGTGCACATGTGTATGTACACATGTGTGTGCACATGT GTATGTACACATGTGTGTGCACATGTGTATGTACACATGTGTGTGCACAT GTGTATGTACACATGTGTGTGCACATGTGTATG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0034 a0034	a0034c0030 a0034c0030	a0034c0030t0003 a0034c0030t0003	a0034c0030t0003g0029 a0034c0030t0003g0029	1	126	0.0079	232	c.93+ others(249): Show c.93+10072_93+10073insCATACACATGTGCACACACATGTGTACA TACACATGTGCACACACATGTGTACATACACATGTGCACACACATGTGTA CATACACATGTGCACACACATGTGTACATACACATGTGCACACACATGTG TACATACACATGTACACACACATGTGTACATACACATGTACACACACATG TGTACATACACATGTACACACACATGTGTATATACACATGTACACACACA TGTG	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DOCK1_chr10_126900428_127457516	126947513	G G	GTGATGGT others(225): Show GTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGG TGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAG TATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0071 a0004c0071	a0004c0071t0003 a0004c0071t0003	a0004c0071t0003g0114 a0004c0071t0003g0114	1	136	0.0074	232	c.47- others(249): Show c.47-23187_47-23186insATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGG TGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGG TAGTATTACTGTTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGT GATG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947541	G G	GTGGTGGT others(225): Show GTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTT GGTGGTGATGGTGGTGGTTGGTAGTATTACTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0001 a0001c0056t0001	a0001c0056t0001g0012 a0001c0056t0001g0012	1	136	0.0074	232	c.47- others(249): Show c.47-23156_47-23155insGTGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGG TGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTT GGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947606	T T	TTGGTGGT others(225): Show TTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT GGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTTTT GGTGGTGATGGTGGTTGGTAGTATTACTGTTGG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0089 a0001c0008t0002g0089	1	136	0.0074	232	c.47- others(249): Show c.47-23091_47-23090insGTGGTGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT TGGTAGTATTACTTTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGT GGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947915	G G	GTGGTGGT others(225): Show GTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTA CTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGG TGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0082 a0002c0023t0001g0082	1	136	0.0074	232	c.47- others(249): Show c.47-22760_47-22759insATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGT TGGTAGTATTACTGTTGGTGGTGGTGATGGTGGTTGGTAGTATTACTGTT GGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOP1A_chr6_83062671_83173471	83145192	A A	ATATATAT others(225): Show ATATATATAATATATATATAATATGTATATATATAATATATATATTATGT ATATATAATATATATATAATATATATATTATATATATATTATATATATAT TATATATATATTATATATATATTATATATATAATATATATATAATATATA TATTATATATAATATATATATATAATATATATATTATATATATATAATAT ATATAATATATATATAATATATATATTTAAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02965.hp2 others(3): Show HG02055.hp2 HG02451.hp1 HG02965.hp2 HG03098.hp2 HG03195.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(3): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058	6	298	0.0201	232	c.554 others(249): Show c.5542-324_5542-323insATATATATATAATATGTATATATATAAT ATATATATTATGTATATATAATATATATATAATATATATATTATATATAT ATTATATATATATTATATATATATTATATATATATTATATATATAATATA TATATAATATATATATTATATATAATATATATATATAATATATATATTAT ATATATATAATATATATAATATATATATAATATATATATTTAAAAGTATA TATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPEP1_chr16_89608642_89643433	89619557	T T	TCCCCTCC others(225): Show TCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCG CTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTGTCTGCAGCCCCC TGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	250	0.0040	232	c.-10 others(251): Show c.-107+5842_-107+5843insTCCCTGCAGCCCCCTGCCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCC TGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGC TCCCCTGTCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCT GCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634652	C C	CTCCTTTC others(225): Show CTCCTTTCCCTTCCTCTCCTTTCCCTTCCTTCCCTTTCCATCCTTCCTTT CCTCTCTCTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTCCTTCCTTCCTTCTCCTTTCCCTTCCTCTCCTTCCCTTC CTTCTCCTTTCCCCTTCCTTCCTTCCTTTCCTTCCTCCTTTCCCTTCCTT CCCTTTCCCTCTCTTCTCCTTTCCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	250	0.0040	232	c.105 others(249): Show c.105-1256_105-1255insTCCTTTCCCTTCCTCTCCTTTCCCTTCC TTCCCTTTCCATCCTTCCTTTCCTCTCTCTTCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTCCTTCCTTCCTTCTCCTT TCCCTTCCTCTCCTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCTTCCTTT CCTTCCTCCTTTCCCTTCCTTCCCTTTCCCTCTCTTCTCCTTTCCCTTCC TTCT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DPH7_chr9_137549444_137583925	137567548	T T	TCTGTCTG others(225): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	340	0.0029	232	c.641 others(249): Show c.641-2395_641-2394insTCACCCCGGGGAGCTTCCTCACAGACAG AGTCACCCCGGGGAGCTTCCTCACAGAGTCACCCAGGGGAGCTTCCTCAC AGACAGAGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGC TTCCTCACAGACAGAGTCACCCCGGGGAGCTTCCTCACAGACAGAGTCAC CCCGGGGAGCTTCCTCACAGACAGAGTCACCCCGGGGAGCTTCCTCACAG ACAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPP10_chr2_114437641_115850780	114835091	G G	GTATATAT others(225): Show GTATATATAAGCCATATCTACACACCTATGTATATATAAGACATATCTAC ACACCTATGTATATATAAGCCATATCTACACACCTATGTATATATAGGAC ATATCTGCATACCTATGTATATATAGGACATATCTACACACCTATGTGTA TATAGGACATATCTACACACCTATGTACATATCAGCCATATCTACACACC TATGTATATATAAGCCATATCTACACACCTATT	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18986.hp2 HG01175.hp2 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0015 a0001c0002t0001 a0002c0001t0015	a0001c0002t0001g0047 a0002c0001t0015g0018 a0001c0002t0001g0047 a0002c0001t0015g0018	2	56	0.0357	232	c.60+ others(251): Show c.60+392358_60+392359insGCATACCTATGTATATATAGGACATA TCTACACACCTATGTGTATATAGGACATATCTACACACCTATGTACATAT CAGCCATATCTACACACCTATGTATATATAAGCCATATCTACACACCTAT TTATATATAAGCCATATCTACACACCTATGTATATATAAGACATATCTAC ACACCTATGTATATATAAGCCATATCTACACACCTATGTATATATAGGAC ATATCT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIPR1_chr2_3183970_3382818	3331176	G G	GGCGTGTA others(225): Show GGCGTGTAGACACCCATGAGATGGTGTCAGCAGAGGCAGGCGTGTATACA CCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGG TGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTGAGCAGAGG CAGGTGTGTATACACCCATGAGATGGTGTGAGCAGAGGCAGGTGTGTATA CACCCATGAGATGGTGTCAGCAGAGGCAGGTGT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	250	0.0040	232	c.259 others(249): Show c.259+6840_259+6841insACACCTGCCTCTGCTGACACCATCTCAT GGGTGTATACACACCTGCCTCTGCTCACACCATCTCATGGGTGTATACAC ACCTGCCTCTGCTCACACCATCTCATGGGTGTATACACACCTGCCTCTGC TGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTC ATGGGTGTATACACGCCTGCCTCTGCTGACACCATCTCATGGGTGTCTAC ACGC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3331176	G G	GGCGTGTA others(225): Show GGCGTGTAGACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACA CCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGG TGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTGAGCAGAGG CAGGTGTGTATACACCCATGAGATGGTGTGAGCAGAGGCAGGTGTGTATA CACCCATGAGATGGTGTCAGCAGAGGCAGGTGT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18963.hp1 NA18971.hp2 others(1): Show HG02040.hp1 NA18963.hp1 NA18971.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0134 a0001c0001t0002g0151 a0001c0001t0002g0155 others(1): Show a0001c0001t0001g0134 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0195	4	250	0.0160	232	c.259 others(249): Show c.259+6840_259+6841insACACCTGCCTCTGCTGACACCATCTCAT GGGTGTATACACACCTGCCTCTGCTCACACCATCTCATGGGTGTATACAC ACCTGCCTCTGCTCACACCATCTCATGGGTGTATACACACCTGCCTCTGC TGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTC ATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTCTAC ACGC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3331179	G G	GTGTATAC others(225): Show GTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCC ATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGT CAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTGAGCAGAGGCAG GTGTGTATACACCCATGAGATGGTGTGAGCAGAGGCAGGTGTGTATACAC CCATGAGATGGTGTCAGCAGAGGCAGGTGTGTA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01993.hp1 HG02145.hp1 others(13): Show HG00733.hp2 HG01993.hp1 HG02145.hp1 HG02257.hp2 HG02572.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG03471.hp2 HG03490.hp1 HG03579.hp1 NA18979.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0128 a0001c0001t0001g0159 a0001c0001t0001g0160 others(13): Show a0001c0001t0001g0128 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0246 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0191 a0001c0001t0003g0129 a0001c0001t0004g0026 a0001c0001t0004g0162 a0001c0001t0004g0173	16	250	0.0640	232	c.259 others(249): Show c.259+6837_259+6838insTACACACCTGCCTCTGCTGACACCATCT CATGGGTGTATACACACCTGCCTCTGCTCACACCATCTCATGGGTGTATA CACACCTGCCTCTGCTCACACCATCTCATGGGTGTATACACACCTGCCTC TGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCAT CTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTA TACA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3331179	G G	GTGTATAC others(225): Show GTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCC ATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGT CAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTGAGCAGAGGCAG GTGTGTATACACCCATGAGATGGTGTGAGCAGAGGCAGGTGTGTATACAC CCATGAGATGGTGTGAGCAGAGGCAGGTGTGTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03139.hp1 HG03195.hp1 others(1): Show HG02622.hp1 HG03139.hp1 HG03195.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 others(1): Show a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138	4	250	0.0160	232	c.259 others(249): Show c.259+6837_259+6838insTACACACCTGCCTCTGCTCACACCATCT CATGGGTGTATACACACCTGCCTCTGCTCACACCATCTCATGGGTGTATA CACACCTGCCTCTGCTCACACCATCTCATGGGTGTATACACACCTGCCTC TGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCAT CTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTA TACA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar

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