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
RAD51C_chr17_58687602_58740611	58726576	G G	GTATACGT others(189): Show GTATACGTATAGATGTATATACATATGTATATATGTGTATACGTATAGAT GTATATACATATGTATATATGTGTATACGTATAGATGTATATACATATGT ATATATGTGTATACGTATAGATGTATATACATATGTATATATGTGTATAC GTATAGATGTATATACATATGTATATATGTGTATACGTATAGATGTA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	328	0.0030	196	c.965 others(213): Show c.965+2481_965+2482insGTATAGATGTATATACATATGTATATAT GTGTATACGTATAGATGTATATACATATGTATATATGTGTATACGTATAG ATGTATATACATATGTATATATGTGTATACGTATAGATGTATATACATAT GTATATATGTGTATACGTATAGATGTATATACATATGTATATATGTGTAT ACGTATAGATGTATATAC	RAD51C	ENSG00000108384.16	transcript	ENST00000337432.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
RALGAPA2_chr20_20384530_20717644	20458776	A A	ATATATAT others(189): Show ATATATATATAGACCTATATATATATAGACCTATATATATATAGACCTAT ATATATATAGACCTATATATATAGACCTATATATATATAGACCTATATAT ATAGACCTATATATATATAGACCTATATATATAGACCTATATATATATAG ACCTATATATATAGACCTATATATATATAGACCTATATATATAGACC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	58	0.0172	196	c.549 others(217): Show c.5495+14052_5495+14053insGGTCTATATATATAGGTCTATATA TATATAGGTCTATATATATAGGTCTATATATATATAGGTCTATATATATA GGTCTATATATATATAGGTCTATATATATAGGTCTATATATATATAGGTC TATATATATAGGTCTATATATATATAGGTCTATATATATATAGGTCTATA TATATATAGGTCTATATATATA	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39			chr20	TogoVar
RBFOX1_chr16_6014024_7718340	7230044	G G	GAGGAAGG others(189): Show GAGGAAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGAAGGAAGGGA GAGAGAGGGAGGAAGGGAGAGAGAGGAAGGAAGGGAGAGAGAGGGAGGAA GGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGAA GGAAGGGAGAGAGAGGAAGGAAGGGAGAGAGAGGGAGGAAGAGGGGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0031 a0001c0002t0028g0031	1	53	0.0189	196	c.27+ others(215): Show c.27+177955_27+177956insGGGAGAGAGAGGGAGGAAGGGAGAGA GAGGAAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGAAGGAAGGGA GAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAA GGGAGAGAGAGGAAGGAAGGGAGAGAGAGGAAGGAAGGGAGAGAGAGGGA GGAAGAGGGGAAGGAAGGAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RETNLB_chr3_108750638_108762410	108759523	G G	GTATGTGT others(189): Show GTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGT ATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTGT ATACATACATACGTATGTGTATACATACATACGTATGTATGTGTATACAT ACATACGTATGTATGTGTATACATACGTATGTATGTGTATACATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	347	0.0029	196	c.-23 others(207): Show c.-2339_-2338insTGTATGTATACACATACATACGTATGTATACACA TACATACGTATGTATGTATACACATACATACGTATGTATGTATACACATA CGTATGTATGTATACACATACATACGTATGTATACACATACATACATACG TATGTATACACATACATACATACGTATGTATACACATACATACATACGTA TGTATACACATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2114		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759586	C C	CATACGTA others(189): Show CATACGTATGTATGTATGTGTATACATACGTATGTGTATACATACATACG TATGTGTATACATACATACGTATGTATGTGTATACATACATACGTATGTA TGTGTATACATACATATGTATGTGTATACATACATACGTATGTATGTGTA TACATACATACGTATGTATGTGTATACATACATACGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18963.hp2 NA18944.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	401	0.0050	196	c.-24 others(207): Show c.-2402_-2401insACACATACATACGTATGTATGTATACACATACAT ACGTATGTATGTATACACATACATACGTATGTATGTATACACATACATAT GTATGTATACACATACATACGTATGTATGTATACACATACATACGTATGT ATGTATACACATACGTATGTATGTATACACATACGTATGTATACACATAC ATACATACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2177		chr3	TogoVar
RFLNA_chr12_124290093_124321024	124319992	G G	GGGTGGGA others(189): Show GGGTGGGATGACCTCTTTCTTTGGGGGCGGGTGGGATGACCTCTTTCTTT GGGGGCGGGTGGGATGGCCTCTTTCTTTGGGGGGAGGTGGGATGACCTCT TTCTTTGGGGGTGGGTGGGATGACCTCTTTCTTTAGGGGCGGGTGGGATG ACCTCTTTCTTTGGGGGCAGGTGGGATGACATCTTTCTTTGGGGGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0035 a0004c0008t0035	a0004c0008t0035g0169 a0004c0008t0035g0169	1	333	0.0030	196	c.54 others(207): Show c.5467_*5468insGGTGGGATGACCTCTTTCTTTGGGGGCGGGTGGG ATGACCTCTTTCTTTGGGGGCGGGTGGGATGGCCTCTTTCTTTGGGGGGA GGTGGGATGACCTCTTTCTTTGGGGGTGGGTGGGATGACCTCTTTCTTTA GGGGCGGGTGGGATGACCTCTTTCTTTGGGGGCAGGTGGGATGACATCTT TCTTTGGGGGTA	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding		3969		chr12	TogoVar
RFLNA_chr12_124290093_124321024	124320025	G G	GGATGACC others(189): Show GGATGACCTCTTTCTTTGGGGGGAGGTGGGATGACCTCTTTCTTTGGGGG TGGGTGGGATGACCTCTTTCTTTAGGGGCAGGTGGGATGACCTCTTTCTT TGGGGGCGGGTGGGATGACCTCTTTCTTTGGGGGCGGGTGGGATGACCTC TTTCTTTGGGGGTAAGTGGGATGACCTCTTTGTTTGCGGGTAGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG03654.hp1 HG03704.hp1 others(6): Show HG02129.hp1 HG03654.hp1 HG03704.hp1 HG03942.hp1 NA18951.hp2 NA18966.hp2 NA18994.hp2 NA19000.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0026 a0001c0001t0029 a0001c0001t0011 a0001c0001t0026 a0001c0001t0029	a0001c0001t0011g0002 a0001c0001t0011g0050 a0001c0001t0011g0051 others(5): Show a0001c0001t0011g0002 a0001c0001t0011g0050 a0001c0001t0011g0051 a0001c0001t0011g0057 a0001c0001t0011g0070 a0001c0001t0011g0075 a0001c0001t0026g0344 a0001c0001t0029g0146	9	270	0.0333	196	c.55 others(207): Show c.5500_*5501insGATGACCTCTTTCTTTGGGGGGAGGTGGGATGAC CTCTTTCTTTGGGGGTGGGTGGGATGACCTCTTTCTTTAGGGGCAGGTGG GATGACCTCTTTCTTTGGGGGCGGGTGGGATGACCTCTTTCTTTGGGGGC GGGTGGGATGACCTCTTTCTTTGGGGGTAAGTGGGATGACCTCTTTGTTT GCGGGTAGGTGA	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding		4002		chr12	TogoVar
RGS22_chr8_99955936_100111049	100051961	A A	ATATATAT others(189): Show ATATATATTTATATATTTATATATAAATGTTTATATATATTTATATATTT ATATATGTTTATATATATTTATATATTTATATATAAATGTTTATATATAT TTATATATTTATATATAAATGTTTATATATATTTATATATTTATATATAA ATGTTTATATATATTTATATATTTATATATAAATGTTTATATATATT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	238	0.0042	196	c.168 others(213): Show c.1689+840_1689+841insAATATATATAAACATTTATATATAAATA TATAAATATATATAAACATTTATATATAAATATATAAATATATATAAACA TTTATATATAAATATATAAATATATATAAACATTTATATATAAATATATA AATATATATAAACATATATAAATATATAAATATATATAAACATTTATATA TAAATATATAAATATATA	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	10/27			chr8	TogoVar
RGS7_chr1_240770514_241362205	240777954	C C	CATGATCT others(189): Show CATGATCTAATGACCTTCCAAAGGCCCTGGCTCCTAATACCATCACCTTC ATGATCTAATGACCTTCCAAAGGCCCTGACTCCTAATACCATCACCTTCA TGATCTAATGACCTTCCAAAGGCCCTGACTCCTAATACCATCACCTTCAT GATCTAATGACCTTCCAAAGGCCCTGGCTCCTAATACCATCACCTTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03540.hp2 HG01109.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0074 a0001c0001t0002g0029 a0001c0001t0002g0074	2	112	0.0179	196	c.7- others(211): Show c.7-1742_*7-1741insTAAGGTGATGGTATTAGGAGCCAGGGCCTT TGGAAGGTCATTAGATCATGAAGGTGATGGTATTAGGAGTCAGGGCCTTT GGAAGGTCATTAGATCATGAAGGTGATGGTATTAGGAGTCAGGGCCTTTG GAAGGTCATTAGATCATGAAGGTGATGGTATTAGGAGCCAGGGCCTTTGG AAGGTCATTAGATCAT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	18/18			chr1	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(189): Show CTATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01943.hp2 HG01975.hp2 others(13): Show HG01256.hp2 HG01943.hp2 HG01975.hp2 HG01993.hp1 HG02273.hp2 HG03669.hp2 NA18942.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18972.hp2 NA18975.hp1 NA18977.hp1 NA18981.hp1 NA19007.hp2 NA19011.hp2	a0001 a0020 a0001 a0020	a0001c0001 a0020c0019 a0001c0001 a0020c0019	a0001c0001t0001 a0020c0019t0001 a0001c0001t0001 a0020c0019t0001	a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0210 others(13): Show a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0235 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0020c0019t0001g0417	16	209	0.0766	196	c.22 others(207): Show c.2236_*2237insTATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881980	C C	CTATATAG others(189): Show CTATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 NA18959.hp1 NA19065.hp1 HG01928.hp2 NA18959.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0214 a0001c0001t0001g0296 a0001c0001t0001g0190 a0001c0001t0001g0214 a0001c0001t0001g0296	3	158	0.0190	196	c.22 others(207): Show c.2254_*2255insTATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2060		chr13	TogoVar
RPA2_chr1_27886524_27919575	27917093	T T	TCCCTCCC others(189): Show TCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCTTCCTTCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTTCCTCCCTCCCTTC CTTCCTTCCTCCTTCCTCCCTCCCTCCCTCCTTCCTTCCTCCTTCCCTCC CTCCTTCCTTCCTTCCTTCTTCTCCCCCCCTTCCTTCCTCCTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18950.hp2 NA19005.hp1 others(1): Show NA18941.hp1 NA18950.hp2 NA19005.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0105 a0001c0001t0001g0001 a0001c0001t0001g0105	4	362	0.0110	196	c.-26 others(207): Show c.-2651_-2650insGAGGAAGGAGGAAGGAAGGGGGGGAGAAGAAGGA AGGAAGGAAGGAGGGAGGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGA AGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAGGAAGGAAGGAAGGG AGGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAGGAAGGAAGGAAGGG AGGGAGGGAGGG	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2519		chr1	TogoVar
RPH3AL_chr17_207389_357807	272984	C C	CGACATCA others(189): Show CGACATCAGGAAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAG CGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGTGATGTCAGGGAGAGA CCCCAGCAAGGGTGACATCAGGAAGAGACCCCAGCGAGGGCGACGTCAGG GAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	112	0.0089	196	c.438 others(213): Show c.438+8783_438+8784insACCCTCGCTGGGGTCTCTCCCTGACGTC GCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCCT GATGTCACCCTTGCTGGGGTCTCTCCCTGACATCACCCTTGCTGGGGTCT CTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTG GGGTCTCTTCCTGATGTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273275	A A	AGAGACCC others(189): Show AGAGACCCCAGCGAGGGCGACTTCAGGGAGAGACCCCAGCGAGGGCGACG TCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGAAGAGACCCCAGCGAGG GCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCA GCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	124	0.0081	196	c.438 others(213): Show c.438+8492_438+8493insACCCTGACGTCGCCCTCGCTGGGGTCTC TCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGG GGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGACGTCGCCCT CGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGAAGT CGCCCTCGCTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273427	G G	GAGGGTGA others(189): Show GAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGAC CCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCTACGTCAGGG AGAGACCCCAGCGCGGGTGACTTCAGGGTGAGACCCCAGCGAGGGCTACG TCAGGGAGAGACCCCAGCAAGGGCTACGTCAGGGAGAGACCCCAGCA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0099 a0001c0001t0017g0099	1	128	0.0078	196	c.438 others(213): Show c.438+8340_438+8341insTGCTGGGGTCTCTCCCTGACGTAGCCCT TGCTGGGGTCTCTCCCTGACGTAGCCCTCGCTGGGGTCTCACCCTGAAGT CACCCGCGCTGGGGTCTCTCCCTGACGTAGCCCTCGCTGGGGTCTCTCCC TGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTC TCTCCCTGACGTCACCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273435	C C	CGTCAGGG others(189): Show CGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGA GGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACCC CGGCGAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAG AGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCAAGGGTGAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	127	0.0079	196	c.438 others(213): Show c.438+8332_438+8333insATCACCCTTGCTGGGGTCTCTCCCTGAC GTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCAC CCTGAAGTCACCCTCGCCGGGGTCTCACCCTGAAGTCACCCTCGCTGGGG TCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCG CTGGGGTCTCTCCCTGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273544	T T	TGACGTCA others(189): Show TGACGTCAGGGAGAGACCCCAGCGAGGGCGACATCAGGAAGAGACCCCAG CGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGA CCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGG GAGAGACCCCAGCAAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	58	0.0172	196	c.438 others(213): Show c.438+8223_438+8224insGCCCTCGCTGGGGTCTCACCCTGAAGTC ACCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCT GACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCT CTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGATGTCGCCCTCGCTG GGGTCTCTCCCTGACGTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273545	G G	GACGTCAG others(189): Show GACGTCAGGGAGAGACCCCAGCAAGGGCTACGTCAGGGAGAGACCCCAGC GAGGGTGACGTCAGGGTGAGACCCCAGCGAGGGTGACGTCAGGGAGAGAC CCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGG AGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0060 a0001c0002t0006g0060	1	132	0.0076	196	c.438 others(213): Show c.438+8222_438+8223insAGCCCTTGCTGGGGTCTCTCCCTGACGT CGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCC TGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTC TCACCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTAGCCCTTGCT GGGGTCTCTCCCTGACGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273567	G G	GAGGGCGA others(189): Show GAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACTTCAGGGTGAGAC CCCGGCGAGGGTGACTTCAGGGTGAGACCCCAGTGAGGGCGACGTCAGGG AGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCAAGGGTGATG TCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	72	0.0139	196	c.438 others(213): Show c.438+8200_438+8201insTGCTGGGGTCTCTCCCTGACGTCGCCCT CGCTGGGGTCTCTCCCTGACATCACCCTTGCTGGGGTCTCTCCCTGACGT CACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCACTGGGGTCTCACCC TGAAGTCACCCTCGCCGGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTC TCTCCCTGACGTCGCCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273620	A A	AGCGAGGG others(189): Show AGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGA GACCCCAGCAAGGGTGATGTCAGGGAGAGACCCCAGCGCGGGCGACGTCA GGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGTG ACTTCAGGGTGAGACCCCAGCAAGGGCGACGTCGGGGAGAGACCCCT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0113 a0001c0001t0008g0113	1	83	0.0120	196	c.438 others(213): Show c.438+8147_438+8148insAGGGGTCTCTCCCCGACGTCGCCCTTGC TGGGGTCTCACCCTGAAGTCACCCTTGCTGGGGTCTCTCCCTGACGTCGC CCTCGCTGGGGTCTCTCCCTGACGTCGCCCGCGCTGGGGTCTCTCCCTGA CATCACCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCT CCCTGACGTCACCCTCGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RREB1_chr6_7102961_7256980	7103356	C C	CATATAAT others(189): Show CATATAATATATAATATTATATGTTAATTAACATATAATATATAATATTA TATATAATATAATATATATAATATATAATATTATATATAATATAATATAT ATAATATATAATATTATATATAATATAATATATATAATATATAATATTAT ATATAATATAATATATATAATATATAATATTATATATAATATAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0023 a0003c0002t0023	a0003c0002t0023g0175 a0003c0002t0023g0175	1	206	0.0049	196	c.-49 others(207): Show c.-4989_-4988insATATAATATATAATATTATATGTTAATTAACATA TAATATATAATATTATATATAATATAATATATATAATATATAATATTATA TATAATATAATATATATAATATATAATATTATATATAATATAATATATAT AATATATAATATTATATATAATATAATATATATAATATATAATATTATAT ATAATATAATAT	RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding		4604		chr6	TogoVar
RSKR_chr17_28602963_28619185	28604080	G G	GGGCTGAC others(189): Show GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCTCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGTG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCTCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	10	0.1000	196	c.63 others(207): Show c.6397_*6398insACCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGAGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCACCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGAGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCC	RSKR	ENSG00000167524.17	transcript	ENST00000301037.11	protein_coding		3882		chr17	TogoVar
RSKR_chr17_28602963_28619185	28604088	C C	CCCCCCAC others(189): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCTCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGTGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGTGGGCTGAACCC CCCACCTCCCTCCTGGAAGGGGCGGCTGGCCGGGCGGGGGGCTGACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	360	0.0028	196	c.63 others(207): Show c.6389_*6390insAGTCAGCCCCCCGCCCGGCCAGCCGCCCCTTCCA GGAGGGAGGTGGGGGGTTCAGCCCACCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCACCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGAGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGG	RSKR	ENSG00000167524.17	transcript	ENST00000301037.11	protein_coding		3874		chr17	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCACAGC others(189): Show CCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC CCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCC TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	122	0.0082	196	c.727 others(209): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG GACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGG TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA TCCCCGGGCTGTGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(189): Show CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCC CGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGC CCCACACCCTCTGTCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCC TCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0205 a0001c0001t0007g0205	1	122	0.0082	196	c.727 others(209): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG GACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG TGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGC TGTGGGGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477245	C C	CACACCCT others(189): Show CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTC TGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACA GCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGA TGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	153	0.0065	196	c.727 others(209): Show c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC AGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT GGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGT GGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAG GGGGCAGAGGGTGT	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(189): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATATG TATATAAACACACATACGTGTATATGTTTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAAC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	158	0.0063	196	c.494 others(215): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATATGTATATAAACACACATACGTGTATATGTTTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSU1_chr10_16585611_16822424	16645892	A A	ATATACGT others(189): Show ATATACGTATATATACATATATGTATATATACATATATGTACATATATGT ATATATACATATATGTATATATACGTATATATATGTGTATATATACATAT ATGTATATATACATATATGTATATATACGTATATATATGTGTATATATAC ATATATGTATATATACATATATACATATATGTATATATACATATATG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0025 a0001c0001t0038g0025	1	182	0.0055	196	c.731 others(215): Show c.731+49130_731+49131insCATATATGTATATATACATATATGTA TATATGTATATATACATATATGTATATATACACATATATATACGTATATA TACATATATGTATATATACATATATGTATATATACACATATATATACGTA TATATACATATATGTATATATACATATATGTACATATATGTATATATACA TATATGTATATATACGTATA	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RTN1_chr14_59590983_59875776	59750359	C C	CTATAATA others(189): Show CTATAATATATAATATATAATATATCTATAATATATAATATATCTATAAT ATATATATCTATAATATATAATATATCTATAATATATATATTATATCTAT AATATATATAATATATCTATAATATATATAATATATCTATAATATATATA TCTATAATATATATAATATATCTATAATATATAATATATCTATAATA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	140	0.0071	196	c.242 others(213): Show c.242-3879_242-3878insTATTATAGATATATTATATATTATAGAT ATATTATATATATTATAGATATATATATTATAGATATATTATATATATTA TAGATATATTATATATATTATAGATATAATATATATATTATAGATATATT ATATATTATAGATATATATATTATAGATATATTATATATTATAGATATAT TATATATTATATATTATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(189): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCC CGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0224 a0001c0003t0002g0224	1	219	0.0046	196	c.-58 others(203): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGC GCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGC GCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACC CCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(189): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCC CGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA19012.hp2 NA19068.hp2 NA18964.hp1 NA19012.hp2 NA19068.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0245 a0001c0005t0002g0246 a0001c0005t0002g0247 a0001c0005t0002g0245 a0001c0005t0002g0246 a0001c0005t0002g0247	3	221	0.0136	196	c.-58 others(203): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGC GCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGC GCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACC CCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUNDC3B_chr7_87623398_87837296	87626246	A A	ATGTCATA others(189): Show ATGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATA TTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATA TTGTCATATATATGTGTCATATATGTGTCATATATATCTGTCATATATGT GTCATATATATCTGTCATATATGTGTCATATATATGTGTCATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0027 a0001c0001t0050g0027	1	58	0.0172	196	c.-25 others(207): Show c.-2578_-2577insTGTCATATATATGTGTCATATATATTGTCATATA TATGTGTCATATATATTGTCATATATATGTGTCATATATATTGTCATATA TATGTGTCATATATATTGTCATATATATGTGTCATATATGTGTCATATAT ATCTGTCATATATGTGTCATATATATCTGTCATATATGTGTCATATATAT GTGTCATATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2151		chr7	TogoVar
RYR2_chr1_237037184_237838988	237281980	C C	CAGAGTAT others(189): Show CAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTTAT AGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATA GAGTATATACTGCAGAGTGCCTGCTGCCACCATTAGAACCCTGGTAATAG AGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01109.hp2 HG01243.hp2 others(9): Show HG00609.hp2 HG01109.hp2 HG01243.hp2 HG02055.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02922.hp1 HG03017.hp1 HG03209.hp1 HG03669.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0010 a0001c0022 a0001c0028 a0001c0040 a0002c0025 a0006c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 a0001c0004t0001 a0001c0008t0024 a0001c0010t0004 a0001c0022t0009 a0001c0028t0007 a0001c0040t0036 a0002c0025t0037 a0006c0020t0001	a0001c0001t0001g0099 a0001c0001t0003g0023 a0001c0001t0007g0011 others(9): Show a0001c0001t0001g0099 a0001c0001t0003g0023 a0001c0001t0007g0011 a0001c0002t0001g0070 a0001c0004t0001g0058 a0001c0008t0024g0081 a0001c0010t0004g0097 a0001c0022t0009g0066 a0001c0028t0007g0062 a0001c0040t0036g0095 a0002c0025t0037g0003 a0006c0020t0001g0015	12	100	0.1200	196	c.168 others(215): Show c.168+11376_168+11377insGCAGAGTGCCCGCTGCCACTGTTAGA ACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAA CCCTGGTAATAGAGTATATACTGCAGAGTGCCTGCTGCCACCATTAGAAC CCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACC CTGGTAATAGAGTATATACT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	2/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237281993	A A	ACAGAGTG others(189): Show ACAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACTG CAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGC AGAGTGCCTGCTGCCACCATTAGAACCCTGGTAATAGAGTATATACTGCA GAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp2 HG02486.hp2 others(8): Show HG01243.hp1 HG02257.hp2 HG02486.hp2 HG02572.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03453.hp2 HG03516.hp1 NA19043.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0001c0016 a0001c0019 a0001c0030 a0002c0038 a0004c0034	a0001c0001t0038 a0001c0002t0003 a0001c0005t0031 others(8): Show a0001c0001t0038 a0001c0002t0003 a0001c0005t0031 a0001c0007t0016 a0001c0008t0039 a0001c0011t0041 a0001c0016t0030 a0001c0019t0019 a0001c0030t0005 a0002c0038t0040 a0004c0034t0013	a0001c0001t0038g0001 a0001c0002t0003g0052 a0001c0005t0031g0028 others(8): Show a0001c0001t0038g0001 a0001c0002t0003g0052 a0001c0005t0031g0028 a0001c0007t0016g0042 a0001c0008t0039g0002 a0001c0011t0041g0054 a0001c0016t0030g0024 a0001c0019t0019g0035 a0001c0030t0005g0053 a0002c0038t0040g0096 a0004c0034t0013g0043	11	85	0.1294	196	c.168 others(215): Show c.168+11386_168+11387insCGCTGCCACTGTTAGAACCCTGGTTA TAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAAT AGAGTATATACTGCAGAGTGCCTGCTGCCACCATTAGAACCCTGGTAATA GAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAG AGTATATACTGCAGAGTGCC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	2/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	933965	C C	CCGTTACA others(189): Show CCGTTACAGGTGGGCAGGGGAGGCTGCTCCGTTACAGGTGGGCAGGGGAG GCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCA GGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0146 a0001c0023t0001g0146	1	430	0.0023	196	c.843 others(213): Show c.843-1784_843-1783insTGCTCCGTTACAGGTGGGCAGGGGAGGC GGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGG GGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTA CAGGTGGGCAGGGGAGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934092	A A	AGGGGAGG others(189): Show AGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAG GTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTCCG TTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCG GCTCCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0090 a0001c0023t0001g0090	1	326	0.0031	196	c.843 others(213): Show c.843-1668_843-1667insGCGTTACAGGTGGGCGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGG GCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGG TGGGCGGGGGAGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934937	G G	GGGCGGCT others(189): Show GGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	46	0.0217	196	c.843 others(211): Show c.843-810_843-809insGGAGGCGGCTGCGTTACAGGTGGGCGGGGG GGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAXO1_chr9_18922650_19038209	19013646	A A	AAGTGATT others(189): Show AAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGAATTACAGGCGTGC ATCACCATGCCTGGCTAATTTTTGTATTTTTAGTGGAAATGGGTTTTCAC CATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGC CTCGGCCTCCCAAAGTGTTAGGATTACAGGTGTGAGGCGCCACGCCC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA19062.hp2 NA18972.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0208 a0001c0001t0009g0222 a0001c0001t0009g0208 a0001c0001t0009g0222	2	362	0.0055	196	c.38+ others(213): Show c.38+19224_38+19225insGGGCGTGGCGCCTCACACCTGTAATCCT AACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAA GACCAGCCTGGCCAACATGGTGAAAACCCATTTCCACTAAAAATACAAAA ATTAGCCAGGCATGGTGATGCACGCCTGTAATTCCAGCTACTTGGGAAGC TGAGGCAGGAGAATCACT	SAXO1	ENSG00000155875.15	transcript	ENST00000380534.9	protein_coding	1/3			chr9	TogoVar
SBF2_chr11_9773668_10299219	10249692	T T	TTTGGAAT others(189): Show TTTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAGTC CATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGG GGAGTCCATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGC TATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAGTCCATAGCA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp2 HG02074.hp2 others(4): Show HG00741.hp2 HG01243.hp2 HG02074.hp2 HG02109.hp2 HG03209.hp1 HG03225.hp1 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 a0002c0002t0001	a0001c0001t0001g0211 a0001c0001t0002g0162 a0001c0001t0002g0189 others(4): Show a0001c0001t0001g0211 a0001c0001t0002g0162 a0001c0001t0002g0189 a0001c0001t0005g0192 a0001c0003t0002g0018 a0001c0003t0002g0160 a0002c0002t0001g0002	7	67	0.1045	196	c.55+ others(213): Show c.55+44127_55+44322dupTGCTATGGACTCCCCCATAGCATTCCAA TGCTATGGACTCCCCCATAGCATTCCAATGCTATGGACTCCCCCATAGCA TTCCAATGCTATGGACTCCCCCATAGCATTCCAATGCTATGGACTCCCCC ATAGCATTCCAATGCTATGGACTCCCCCATAGCATTCCAATGCTATGGAC TCCCCCATAGCATTCCAA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(189): Show ATAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTGT AAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTG CAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	16	0.0625	196	c.21+ others(211): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTG TTTACACTGCACTGTTTACACTGCACTGTTTACACTGCACTGTTTATACT GCACTGTTTACACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTT TATACTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCLY_chr2_238056001_238104413	238098563	A A	AGGACCGC others(189): Show AGGACCGCCCACATAGGACCGCCCACATGGGAACGCCCACATAGGACCGC CCACATAGGACCGCCCACATAGAACCGCCCACATGGGAACGCCCACATAG GACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATAGAACCGTCC ACATAGGACCGCCCACATGGGACCGCCCACATAGAACCGTCCACATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0131 a0001c0003t0131	a0001c0003t0131g0130 a0001c0003t0131g0130	1	352	0.0028	196	c.21 others(205): Show c.212_*213insCGCCCACATAGGACCGCCCACATGGGAACGCCCACA TAGGACCGCCCACATAGGACCGCCCACATAGAACCGCCCACATGGGAACG CCCACATAGGACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATA GAACCGTCCACATAGGACCGCCCACATGGGACCGCCCACATAGAACCGTC CACATGGGAC	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	213	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(189): Show GGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGT GAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG01070.hp1 others(1): Show HG00735.hp2 HG01069.hp2 HG01070.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(1): Show a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204	4	167	0.0240	196	c.464 others(209): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGA GTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGTTGGG others(189): Show GGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGG GGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01517.hp1 HG01934.hp1 HG00741.hp2 HG01517.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247	3	166	0.0181	196	c.464 others(209): Show c.464+83_464+84insTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGG TTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGG GGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGT TGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGG GGGGTTGAGTGAGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284173	G G	GGGTTGAG others(189): Show GGGTTGAGTGAGGGGTCGGGGGGGGTTGGGTGAGGGGGGTGGGGTGTTGG GTGAGGGGTCGGGGGGGGTTGAGTGAGGGGGGTGGGGGGTTGGGTGGGGG GTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGTTGGGTG AGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0010 a0004c0005t0010	a0004c0005t0010g0124 a0004c0005t0010g0124	1	277	0.0036	196	c.464 others(209): Show c.464+85_464+86insTTGAGTGAGGGGTCGGGGGGGGTTGGGTGAGG GGGGTGGGGTGTTGGGTGAGGGGTCGGGGGGGGTTGAGTGAGGGGGGTGG GGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGG GGTGGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTG GGTGAGGGGGGTGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284173	G G	GTGTTGGG others(189): Show GTGTTGGGTGAGGGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTG GGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGG GTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0267 a0001c0001t0011g0267	1	277	0.0036	196	c.464 others(209): Show c.464+83_464+84insTGTTGGGTGAGGGGGGTGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGG TGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGT TGGGTGAGGGGGGT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288569	C C	CCGTGTCT others(189): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTGC TCCATTCCCTGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGA GTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0170 a0003c0004t0003g0170	1	260	0.0038	196	c.166 others(213): Show c.1662+533_1662+534insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTGCTCCATTCCCTGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTC CCGTGTCCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(189): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACACAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0056 a0002c0009t0056	a0002c0009t0056g0044 a0002c0009t0056g0044	1	63	0.0159	196	c.199 others(215): Show c.1994+2071_1994+2072insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACACAGACGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(189): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0018 a0001c0014t0018	a0001c0014t0018g0062 a0001c0014t0018g0062	1	63	0.0159	196	c.199 others(215): Show c.1994+2071_1994+2072insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(189): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0072 a0011c0022t0072	a0011c0022t0072g0008 a0011c0022t0072g0008	1	63	0.0159	196	c.199 others(215): Show c.1994+2071_1994+2072insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(189): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACACAGAGGATCCTCCAGAGAATCACTGAGGGTCCCAGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCAGGGCTGAGG CTGCCACACAGACGGTCCTCCAGAGAATCACTGAGGGTCCCAGGGCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0029 a0001c0048t0001g0029	1	62	0.0161	196	c.199 others(215): Show c.1994+2130_1994+2131insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGATCCTCCAGAGAATC ACTGAGGGTCCCAGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCAGGGCTGAGGCTGCCACACAGACGGTCCTCCAGAGAA TCACTGAGGGTCCCAGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar

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