Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RASA3_chr13_113972783_114137623	114119873	C C	CTCTCTCC others(239): Show CTCTCTCCAGCCAGGCGTCGATCAAGTCCCCCCCTTCTCTCCAGCCAGGC GTCGATCAGGGCCCCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAGGGCC CCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAGCGCCCCCCTCCCCTCTC CAGCCAGGCGTCGATCAGCGCCCCCCTCCCCTCTCCAGCCAGGCGTCGAT CAGGGCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAAGTCCCCCCCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	67	0.0149	246	c.55+ others(263): Show c.55+12561_55+12562insAGGGGGGGACTTGATCGACGCCTGGCTG GAGAGAGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAGGGGAGGGGGGC GCTGATCGACGCCTGGCTGGAGAGGGGAGGGGGGCGCTGATCGACGCCTG GCTGGAGAGAGGGAGGGGGGGCCCTGATCGACGCCTGGCTGGAGAGAGGG AGGGGGGGCCCTGATCGACGCCTGGCTGGAGAGAAGGGGGGGACTTGATC GACGCCTGGCTGGAGAGA		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RBFOX1_chr16_6014024_7718340	6450775	A A	ATATATAC others(239): Show ATATATACATATATATATGTATATATATATATATACATATATATATGTAT ATATATATACATATATATATGTATATATATATACATATATATATGTATAT ATATATACACATATATATGTATATATATATACATATATATATGTATATAT ATATATATGTATATATATATATACATATATGTATATATATATATGTATAT ATGTATATATATATACATATATGTATATATATATACATATATATATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0008 a0001c0001t0024g0008	1	68	0.0147	246	c.-64 others(267): Show c.-64+133724_-64+133725insCATATATATATGTATATATATATA TATACATATATATATGTATATATATATACATATATATATGTATATATATA TACATATATATATGTATATATATATACACATATATATGTATATATATATA CATATATATATGTATATATATATATATGTATATATATATATACATATATG TATATATATATATGTATATATGTATATATATATACATATATGTATATATA TATACATATATATATGTATATA		RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
RER1_chr1_2386841_2410436	2401341	T T	TCTCCCTC others(239): Show TCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTC CTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTC CTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCT TCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCT CCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03471.hp2 HG01884.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0181 a0001c0001t0010g0190 a0001c0001t0010g0181 a0001c0001t0010g0190	2	354	0.0057	246	c.365 others(261): Show c.365+415_365+416insCCCTCCTCCCTCCCTCCTCCCTCCCTCCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCC TTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCT CCTCCCTTCTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTC CCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTC CTCCTTCCTCCCTCCT		RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
RER1_chr1_2386841_2410436	2401341	T T	TCTCCCTC others(239): Show TCTCCCTCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCC TCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCC TCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCCTTCTTCCTCCTCCTCCCT CCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCT CCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	354	0.0028	246	c.365 others(261): Show c.365+415_365+416insCCCTCCTCCCTCCCTCCTCCTCCCTCCTCC TCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCC TCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCCTTCTTCCT CCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCC CCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTC CTCCTTCCTCCCTCCT		RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(239): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTGTATACATACATACGTATGTATGTATACA TACATACGTATGTATGTGTATACATACATACGTATGTATGTGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	246	c.-23 others(257): Show c.-2310_-2309insGTATACACATACATACGTATGTATGTATACACAT ACATACGTATGTATGTATACATACATACGTATGTATGTATACACATACGT ATGTATACACATACATACATACGTATGTATACACATACATACATACGTAT GTATACACATACATACATACGTATGTATACACATACATACATACGTATGT ATACACATACATACATACGTATGTATACACATACATATGTATGCATACAC ATACATACATAC		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2085		chr3	TogoVar
RGS11_chr16_263307_280944	267528	A A	ACACACAC others(239): Show ACACACACCACATATGCATGCCTCAGTACACCTGCACACGTGCACTAAAC ACAATCACACATGCTATGCGTACACACCACACCTGTGCCTCACAGTGCTA CACATGCATCCTACACGACACGTGCACACACACCACACATGCATGCCTCA CAGTACACCTGCACACGTGCACTACACACAATCACATGCTATGTGTACAC ACCACACGTGTGCCTCTGCTACACATGCCTCATACACACGACACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02257.hp1 HG02258.hp2	a0002 a0019 a0002 a0019	a0002c0003 a0019c0029 a0002c0003 a0019c0029	a0002c0003t0002 a0019c0029t0002 a0002c0003t0002 a0019c0029t0002	a0002c0003t0002g0019 a0019c0029t0002g0105 a0002c0003t0002g0019 a0019c0029t0002g0105	2	456	0.0044	246	c.17 others(257): Show c.1740_*1741insCACGTGTCGTGTGTATGAGGCATGTGTAGCAGAG GCACACGTGTGGTGTGTACACATAGCATGTGATTGTGTGTAGTGCACGTG TGCAGGTGTACTGTGAGGCATGCATGTGTGGTGTGTGTGCACGTGTCGTG TAGGATGCATGTGTAGCACTGTGAGGCACAGGTGTGGTGTGTACGCATAG CATGTGTGATTGTGTTTAGTGCACGTGTGCAGGTGTACTGAGGCATGCAT ATGTGGTGTGTG		RGS11	ENSG00000076344.16	transcript	ENST00000397770.8	protein_coding					778		chr16	TogoVar
RGS11_chr16_263307_280944	267799	C C	CCACACGT others(239): Show CCACACGTGCACTACACACAATCACACATGCTATGCGTACACACCACACG TGTGCCTCAGTGCTACACATGCATCCTACACGACACATGCACATACCACA CATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCACAC ATGCTATGCGTACACACCACACGTGTGCCTCAGTGCTACACATGCATCCT ACACGACACATGCACATACCACACATGCATGCCTCACAGTACACCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	456	0.0022	246	c.14 others(257): Show c.1469_*1470insCAGGTGTACTGTGAGGCATGCATGTGTGGTATGT GCATGTGTCGTGTAGGATGCATGTGTAGCACTGAGGCACACGTGTGGTGT GTACGCATAGCATGTGTGATTGTGTGTAGTGCACGTGTGCAGGTGTACTG TGAGGCATGCATGTGTGGTATGTGCATGTGTCGTGTAGGATGCATGTGTA GCACTGAGGCACACGTGTGGTGTGTACGCATAGCATGTGTGATTGTGTGT AGTGCACGTGTG		RGS11	ENSG00000076344.16	transcript	ENST00000397770.8	protein_coding					507		chr16	TogoVar
RGS12_chr4_3288021_3444913	3341502	G G	GGGCAGAG others(239): Show GGGCAGAGGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGG AGAGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGGGGTGTGGG GGGAGGGGAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATG GGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGG TGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTAGAGAGATGAGGGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG02895.hp1 others(2): Show HG01109.hp2 HG02109.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0002 a0001c0004 a0004c0008 others(1): Show a0001c0002 a0001c0004 a0004c0008 a0011c0050	a0001c0002t0001 a0001c0004t0001 a0004c0008t0001 others(1): Show a0001c0002t0001 a0001c0004t0001 a0004c0008t0001 a0011c0050t0001	a0001c0002t0001g0100 a0001c0002t0001g0270 a0001c0004t0001g0101 others(2): Show a0001c0002t0001g0100 a0001c0002t0001g0270 a0001c0004t0001g0101 a0004c0008t0001g0138 a0011c0050t0001g0099	5	312	0.0160	246	c.188 others(265): Show c.1882-1434_1882-1433insGCAGAGGGGAGGGTGGAGAGATGGGG GTGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAG GGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGTGTGG GGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGA GATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGG AGGGTAGAGAGATGAGGGTG		RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
RIMBP2_chr12_130391133_130721299	130392495	C C	CGTGTGTC others(239): Show CGTGTGTCCGTCAGTTACCTGGTGAGTATTGAATGTTGTGATGACCCGGT CACCGTCATCACGTGTGTCTGTCAGTTACCTGGTGAGTATTGAATGTTGT GATGACCCGGTCACCGTCATCACGTGTGTGCGTCAGTTACCTGGTGAGTA TTGAATGTTGTGATGACCCGGTCACCGTCATCACGTGTGTCCGTCAGTTA CCTGGTGCATATTGAATGTTGTGATGACCCGGTCACCGTCATCACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG02165.hp2 HG03492.hp2 others(1): Show HG00642.hp2 HG02165.hp2 HG03492.hp2 HG03704.hp2	a0001 a0001	a0001c0007 a0001c0011 a0001c0025 a0001c0007 a0001c0011 a0001c0025	a0001c0007t0001 a0001c0011t0001 a0001c0025t0001 a0001c0007t0001 a0001c0011t0001 a0001c0025t0001	a0001c0007t0001g0160 a0001c0011t0001g0125 a0001c0011t0001g0159 others(1): Show a0001c0007t0001g0160 a0001c0011t0001g0125 a0001c0011t0001g0159 a0001c0025t0001g0071	4	180	0.0222	246	c.48 others(257): Show c.4865_*4866insACGTGATGACGGTGACCGGGTCATCACAACATTC AATATGCACCAGGTAACTGACGGACACACGTGATGACGGTGACCGGGTCA TCACAACATTCAATACTCACCAGGTAACTGACGCACACACGTGATGACGG TGACCGGGTCATCACAACATTCAATACTCACCAGGTAACTGACAGACACA CGTGATGACGGTGACCGGGTCATCACAACATTCAATACTCACCAGGTAAC TGACGGACACAC		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding					3637		chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130482734	A A	ATACACCC others(239): Show ATACACCCATTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCA CACCTCATCCCAATACACCCATTGTGTGTGTACATGTGTCAGATTCTGCA GGGGAGGGGGCAGACCTCATCCAAATACACCCATTGTGTGTACATGTGTC AGATTCTGCAGGGGAGGGGGCACACCTCATCCAAATACACCCATTGTGTG TGTACATGTGTCAGATTCTGCAGGGGAGGGGGCACACCTCATCCAAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0079 a0001c0003t0002g0079	1	180	0.0056	246	c.-3- others(261): Show c.-3-3719_-3-3718insATTGGATGAGGTGTGCCCCCTCCCCTGCAG AATCTGACACATGTACACACACAATGGGTGTATTTGGATGAGGTGTGCCC CCTCCCCTGCAGAATCTGACACATGTACACACAATGGGTGTATTTGGATG AGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTACACACACAATGGG TGTATTGGGATGAGGTGTGCCCCCTCCCCTGCAGAATCTGACACATGTAC ACACACAATGGGTGTA		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22						chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130482794	C C	CAATACAC others(239): Show CAATACACCCATTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGG CAGACCTCATCCAAATACACCCATTGTGTGTACATGTGTCAGATTCTGCA GGGGAGGGGGCACACCTCATCCAAATACACCCATTGTGTGTGTACATGTG TCAGATTCTGCAGGGGAGGGGGCACACCTCATCCAATTACACCCATTGTG TGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01192.hp1 HG01361.hp2 others(2): Show HG01070.hp2 HG01192.hp1 HG01361.hp2 HG01884.hp1 HG03516.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0006c0018	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0006c0018t0001	a0001c0001t0001g0158 a0001c0002t0001g0095 a0001c0006t0001g0075 others(2): Show a0001c0001t0001g0158 a0001c0002t0001g0095 a0001c0006t0001g0075 a0001c0006t0001g0076 a0006c0018t0001g0059	5	180	0.0278	246	c.-3- others(261): Show c.-3-3779_-3-3778insTGGATGAGGTCTGCCCCCTCCCCTGCAGAA TCTGACACATGTACACACACAATGGGTGTAATTGGATGAGGTGTGCCCCC TCCCCTGCAGAATCTGACACATGTACACACACAATGGGTGTATTTGGATG AGGTGTGCCCCCTCCCCTGCAGAATCTGACACATGTACACACAATGGGTG TATTTGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTACAC ACACAATGGGTGTATT		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22						chr12	TogoVar
RNASE10_chr14_20500537_20518884	20505260	T T	TTCTCCCT others(239): Show TTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG02004.hp2 HG04204.hp1 others(1): Show HG01975.hp1 HG02004.hp2 HG04204.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0012 a0001c0001t0035 others(1): Show a0001c0001t0011 a0001c0001t0012 a0001c0001t0035 a0001c0001t0067	a0001c0001t0011g0073 a0001c0001t0012g0012 a0001c0001t0035g0062 others(1): Show a0001c0001t0011g0073 a0001c0001t0012g0012 a0001c0001t0035g0062 a0001c0001t0067g0030	4	396	0.0101	246	c.-76 others(255): Show c.-765_-764insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCC		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding					276		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(239): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG04228.hp1 NA18997.hp2 others(4): Show HG01070.hp2 HG04228.hp1 NA18997.hp2 NA19007.hp2 NA19009.hp1 NA19056.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0004t0001	a0001c0001t0001g0002 a0001c0001t0003g0014 a0001c0001t0003g0125 others(4): Show a0001c0001t0001g0002 a0001c0001t0003g0014 a0001c0001t0003g0125 a0001c0001t0003g0158 a0001c0001t0007g0002 a0001c0001t0008g0083 a0001c0004t0001g0004	7	396	0.0177	246	c.-76 others(255): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCT		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding					275		chr14	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTAGATAG others(239): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGACACATCTAGATAGATAT ATAGACACATCTAGATAGATATATAGACACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	426	0.0024	246	c.22 others(257): Show c.2236_*2237insTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGACA CATCTAGATAGATATATAGACACATCTAGATAGATATATAGACACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTAGA		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTAGATAG others(239): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	426	0.0024	246	c.22 others(257): Show c.2236_*2237insTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTAGA		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(239): Show CTATATAGATACATAGATACATCTATATAGATACATAGATACATCTATAT AGATACATAGATACATCTATATAGATACATAGATACATCTATATAGATAC ATAGATACATCTATATAGATACATAGATACATCTATATAGATACATAGAT ACATCTATATAGATACATAGATACATCTATATAGATACATAGATACATCT ATATAGATACATAGATACATCTATATAGATACATAGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03579.hp2 HG03516.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0319 a0001c0002t0001g0320	2	426	0.0047	246	c.22 others(257): Show c.2236_*2237insTATATAGATACATAGATACATCTATATAGATACA TAGATACATCTATATAGATACATAGATACATCTATATAGATACATAGATA CATCTATATAGATACATAGATACATCTATATAGATACATAGATACATCTA TATAGATACATAGATACATCTATATAGATACATAGATACATCTATATAGA TACATAGATACATCTATATAGATACATAGATACATCTATATAGATACATA GATACATCTATA		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881980	C C	CTATATAG others(239): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGATAGATATATAGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	426	0.0024	246	c.22 others(257): Show c.2254_*2255insTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTATA		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2060		chr13	TogoVar
RP1L1_chr8_10601349_10660143	10610079	T T	TCCTCTAA others(239): Show TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCC CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTCC CCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTT TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTC CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02451.hp1 HG02451.hp1	a0070 a0070	a0070c0182 a0070c0182	a0070c0182t0009 a0070c0182t0009	a0070c0182t0009g0363 a0070c0182t0009g0363	1	414	0.0024	246	c.401 others(255): Show c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGG TGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTG CAGTTAGAGGAAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGGGGGT GCAGTTAGAGGGGACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGGGGG TGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTG CAGTTAGAGG	p.Glu others(261): Show p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGlu GluGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGl uGlyValGlnLeuGluGluThrLysGluThrGluGluGlyLeuGlnGluG luGlyValGlnLeuGluGlyThrLysGluThrGluGluGlyLeuGlnGlu GluGlyValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnGluGl uArgValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4283/8014	4018/7203	1340/2400			chr8	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CCCTTTCC others(239): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0005 a0001c0019t0005	a0001c0019t0005g0037 a0001c0019t0005g0037	1	196	0.0051	246	c.348 others(265): Show c.348+21636_348+21637insTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RSPH10B_chr7_5921136_5975689	5930763	C C	CGTACACA others(239): Show CGTACACAGCCCACCAAGATGCCTAGCAGCAAAGGTGTACATGTACACAG CCCCCCAAGATACCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAG ATACCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGC AGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGGT GAGCATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGGTGAGCAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	70	0.0143	246	c.223 others(265): Show c.2233+2018_2233+2019insATGCTCACCTTTGCTGCTAGGCATCT TGGGGGGCTGTGTACATGCTCACCTTTGCTGCTAGGCATCTTGGGGGGCT GTGTACATGCTCACCTTTGCTGCTAGGCATCTTGGGGGGCTGTGTACATG CTCACCTTTGCTGCTAGGTATCTTGGGGGGCTGTGTACATGCTCACCTTT GCTGCTAGGTATCTTGGGGGGCTGTGTACATGTACACCTTTGCTGCTAGG CATCTTGGTGGGCTGTGTAC		RSPH10B	ENSG00000155026.17	transcript	ENST00000404406.6	protein_coding	19/20						chr7	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(239): Show CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCC CGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGC CCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCC TCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCC TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA19054.hp2 NA18941.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	408	0.0049	246	c.727 others(259): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG GGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG TGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGC TGTGGGGTGGAGGG		RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8						chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(239): Show CCCCTCCACCCCTCAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC TCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC CCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCC TCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	408	0.0025	246	c.727 others(259): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG GACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGG TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA CCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGC TGAGGGGTGGAGGG		RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8						chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(239): Show CCCCTCCACTCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCAC TCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGC CCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCC TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03225.hp1 HG03579.hp1 HG02976.hp1 HG03225.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0252 a0001c0001t0001g0024 a0001c0001t0001g0252	3	408	0.0074	246	c.727 others(259): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG GACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA TCCCCGGGCTGTGGAGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGC TGTGGAGTGGAGGG		RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8						chr21	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(239): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCC CCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0227 a0001c0003t0002g0227	1	376	0.0027	246	c.-58 others(253): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCGC GCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCCC GCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACC CCGCGCCC		RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding					41		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(239): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCC CGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0250 a0001c0005t0002g0250	1	376	0.0027	246	c.-58 others(253): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGC GCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGC GCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACC CCGCGCCC		RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding					41		chr5	TogoVar
SAMD11_chr1_918923_949574	934232	A A	AGGGGCGG others(239): Show AGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCT CCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCG GCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCG	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA19067.hp1 HG02523.hp2 NA19067.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0253 a0002c0003t0004g0254 a0002c0003t0004g0253 a0002c0003t0004g0254	2	434	0.0046	246	c.843 others(263): Show c.843-1536_843-1535insCGGCTGCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGG GGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGT GGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGCGGCTGCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGC GTTACAGGTGGGCGGGGG		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934293	A A	AGTCGGCT others(239): Show AGTCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACA GGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTT ACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0237 a0002c0003t0004g0237	1	434	0.0023	246	c.843 others(263): Show c.843-1478_843-1477insTCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTC CGTTACAGGTGGGCAGGG		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SAT1_chrX_23778173_23791210	23780122	C C	CACACATA others(239): Show CACACATATATATGTGTATATATATACGTATATATACACACATATATATG TGTATATATATATACGTATATATACACACATATATATGTGTATATATATA CGTATATATACACATATATATGTGTATATATATACGTATATATACACATA TATATGTGTGTATATATATACGTATATATACACATATATATGTGTATATA TACGTATATATATACACATATATATGTGTATATATACGTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01099.hp1 HG01123.hp1 others(5): Show HG00323.hp1 HG01099.hp1 HG01123.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01517.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006	8	330	0.0242	246	c.-32 others(257): Show c.-3230_-3229insACACATATATATGTGTATATATATACGTATATAT ACACACATATATATGTGTATATATATATACGTATATATACACACATATAT ATGTGTATATATATACGTATATATACACATATATATGTGTATATATATAC GTATATATACACATATATATGTGTGTATATATATACGTATATATACACAT ATATATGTGTATATATACGTATATATATACACATATATATGTGTATATAT ACGTATATATAT		SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding					3050		chrX	TogoVar
SCARB1_chr12_124771856_124868864	124839644	T T	TCCCAACA others(239): Show TCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGG CACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGG GCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATT TCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCAC CCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	356	0.0028	246	c.127 others(265): Show c.127-21938_127-21937insGTGAGGGTGCGGAGAAATCGGGGCCC ATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCC GTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTG AGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGG AGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGG GGCCCATGTGTGCTGTTGGG		SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12						chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839733	G G	GGCACACA others(239): Show GGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACAT GGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGA TTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGC ACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACC CCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03195.hp2 HG02717.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0005t0003 a0001c0001t0004 a0001c0005t0003	a0001c0001t0004g0121 a0001c0005t0003g0355 a0001c0001t0004g0121 a0001c0005t0003g0355	2	356	0.0056	246	c.127 others(265): Show c.127-22027_127-22026insTGTTGGGGTGAGGGTGCGGAGAAATC GGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCAT GTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGT TGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAG GGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAG AAATCGGGGCCCATGTGTGC		SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12						chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839766	A A	ACCCCAAC others(239): Show ACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACG GCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATG GGCCCCGATTTCTCCGCACCCTCGCCCCAACGGCACACATGGGCCCCGAT TTCTCCGCACCCTCGCCCCAACGGCACACATGGGCCCCGATTTCTCCGCA CCCTCGCCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03453.hp2 HG02717.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0015 a0001c0001t0005 a0001c0004t0015	a0001c0001t0005g0045 a0001c0004t0015g0044 a0001c0001t0005g0045 a0001c0004t0015g0044	2	356	0.0056	246	c.127 others(265): Show c.127-22060_127-22059insCGAGGGTGCGGAGAAATCGGGGCCCA TGTGTGCCGTTGGGGCGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCG TTGGGGCGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGCGA GGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGA GAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGG GCCCATGTGTGCCGTTGGGG		SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12						chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839800	C C	CACACTCA others(239): Show CACACTCACCCCAACAGCACACATGGGCCCCGATTTCTCTGCACCCTCAC CCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGC ACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGG CCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATTT CTCCACACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0290 a0001c0003t0001g0290	1	356	0.0028	246	c.127 others(265): Show c.127-22094_127-22093insACGGAGAAATCGGGGCCCATGTGTGC TGTTGGGGTGAGGGTGTGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGT GAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCG GAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCG GGGCCCATGTGTGCCGTTGGGGTGAGGGTGCAGAGAAATCGGGGCCCATG TGTGCTGTTGGGGTGAGTGT		SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12						chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839800	C C	CACCCTCA others(239): Show CACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACACTCAC CCCAACAGCACACATGGGCCCCGATTTCTCTGCACCCTCACCCCAACAGC ACACATGGGCCCCGATTTCTCTGCACCCTCACCCCAACAGCACACATGGG CCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATTT CTCCACACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0277 a0001c0003t0013g0277	1	356	0.0028	246	c.127 others(265): Show c.127-22094_127-22093insACGGAGAAATCGGGGCCCATGTGTGC TGTTGGGGTGAGGGTGTGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGT GAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCA GAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCAGAGAAATCG GGGCCCATGTGTGCTGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATG TGTGCCGTTGGGGTGAGGGT		SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12						chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(239): Show CACATGGGCCCCGATTTCTCCGCACACTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACACTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCATCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACACTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01074.hp2 HG01069.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0074 a0001c0002t0003g0075 a0001c0001t0003g0074 a0001c0002t0003g0075	2	356	0.0056	246	c.127 others(265): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGTGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGTGTGC GGAGAAATCGGGGCCCATGT		SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12						chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(239): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCATCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACAC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACAGCAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0011 a0002c0006t0006g0011	1	356	0.0028	246	c.127 others(265): Show c.127-22318_127-22317insATGCTGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGC GGAGAAATCGGGGCCCATGT		SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12						chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(239): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACACTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCATCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACACTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04184.hp1 HG03942.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0206 a0001c0001t0001g0186 a0001c0001t0001g0206	2	356	0.0056	246	c.127 others(265): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGTGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGC GGAGAAATCGGGGCCCATGT		SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12						chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(239): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCACACTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACACTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(36): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00673.hp1 HG01070.hp1 HG01074.hp1 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01433.hp2 HG01934.hp1 HG02027.hp2 HG02056.hp1 HG02155.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp2 NA18747.hp2 NA18942.hp2 NA18953.hp2 NA18954.hp1 NA18969.hp1 NA18974.hp1 NA19068.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0002c0006 a0002c0008 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0024 a0001c0003t0002 a0001c0003t0007 a0001c0004t0001 a0001c0004t0004 a0001c0007t0001 a0002c0006t0001 a0002c0008t0001 a0002c0008t0003 a0004c0012t0001	a0001c0001t0001g0067 a0001c0001t0001g0094 a0001c0001t0001g0112 others(35): Show a0001c0001t0001g0067 a0001c0001t0001g0094 a0001c0001t0001g0112 a0001c0001t0001g0144 a0001c0001t0001g0251 a0001c0001t0002g0104 a0001c0001t0002g0244 a0001c0001t0002g0316 a0001c0001t0003g0068 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0002t0001g0001 a0001c0002t0001g0219 a0001c0002t0001g0248 a0001c0002t0001g0252 a0001c0002t0001g0284 a0001c0002t0001g0287 a0001c0002t0001g0333 a0001c0002t0002g0073 a0001c0002t0002g0088 a0001c0002t0003g0083 a0001c0002t0003g0091 a0001c0002t0003g0249 a0001c0002t0024g0265 a0001c0003t0002g0093 a0001c0003t0002g0110 a0001c0003t0007g0245 a0001c0004t0001g0102 a0001c0004t0001g0181 a0001c0004t0004g0218 a0001c0007t0001g0090 a0002c0006t0001g0002 a0002c0006t0001g0013 a0002c0008t0001g0009 a0002c0008t0003g0015 a0004c0012t0001g0113 a0004c0012t0001g0179	39	356	0.1096	246	c.127 others(265): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGC GGAGAAATCGGGGCCCATGT		SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12						chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(239): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACAC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCAT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0263 a0001c0003t0002g0263	1	356	0.0028	246	c.127 others(265): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGC GGAGAAATCGGGGCCCATGT		SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12						chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(239): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACAC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03041.hp1 NA18971.hp1 others(5): Show HG02055.hp1 HG03041.hp1 NA18971.hp1 NA18990.hp1 NA19005.hp1 NA19007.hp2 NA19043.hp1 NA19056.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0003c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0003t0002 a0001c0005t0006 a0003c0019t0011	a0001c0001t0001g0132 a0001c0001t0003g0140 a0001c0001t0003g0142 others(5): Show a0001c0001t0001g0132 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0005g0043 a0001c0002t0001g0141 a0001c0003t0002g0264 a0001c0005t0006g0344 a0003c0019t0011g0342	8	356	0.0225	246	c.127 others(265): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGC GGAGAAATCGGGGCCCATGT		SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12						chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(239): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCATCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACACTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0076 a0001c0002t0003g0077	2	356	0.0056	246	c.127 others(265): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGC GGAGAAATCGGGGCCCATGT		SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12						chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(239): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGTCCCGATTTC TCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACAC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0063 a0001c0007t0001g0063	1	356	0.0028	246	c.127 others(265): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGGTGCGGAGAAATCGGGACCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGC GGAGAAATCGGGGCCCATGT		SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12						chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(239): Show CACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACACTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCATCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACACTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01943.hp1 HG01993.hp2 others(4): Show HG00323.hp2 HG01943.hp1 HG01993.hp2 HG03704.hp1 NA18940.hp2 NA19066.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0007 a0001c0003t0001	a0001c0001t0001g0080 a0001c0001t0001g0209 a0001c0001t0002g0221 others(4): Show a0001c0001t0001g0080 a0001c0001t0001g0209 a0001c0001t0002g0221 a0001c0001t0005g0243 a0001c0002t0001g0332 a0001c0002t0007g0058 a0001c0003t0001g0106	7	356	0.0197	246	c.127 others(265): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGTGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGATGC GGAGAAATCGGGGCCCATGT		SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12						chr12	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(239): Show ATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTATAAACAGTGCAA ACAGTGCAGTGTAAACAGCGCAGTATAAACAGTGCAGTGTAAACAGTGCA GTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTATAAACAGTGC AAACAGTGCAGTGTAAACAGCGCAGTATAAACAGTGCAGTGTAAACAGTG CAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0134 a0001c0001t0007g0134	1	386	0.0026	246	c.21+ others(261): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCGCTG TTTACACTGCACTGTTTGCACTGTTTATACTGTTTATACTGCACTGTTTA CACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCGC TGTTTACACTGCACTGTTTGCACTGTTTATACTGTTTATACTGCACTGTT TACACTGCACTGTTTA		SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4						chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(239): Show GGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGG GGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGG GGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0061 a0002c0003t0002g0061	1	290	0.0035	246	c.464 others(259): Show c.464+91_464+92insTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGG GGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG TGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTG GGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGA GTGAGGGGGTTGGG		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289972	G G	GTCTCTGC others(239): Show GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0026 a0026	a0026c0041 a0026c0041	a0026c0041t0001 a0026c0041t0001	a0026c0041t0001g0261 a0026c0041t0001g0261	1	290	0.0035	246	c.166 others(263): Show c.1663-296_1663-295insCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCT GCTCCGTCCCGTGTCTCT		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SEPTIN9_chr17_77276499_77505593	77484889	A A	ATGGGGTG others(239): Show ATGGGGTGATGGTAATATGGGTGATGGTGGTGATTGTGGTGGTAGTGGTG GTGATGGTGATGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGT GGTGTGGTAATGGTGATGGTGGTAAAGGGGTGATGGTGGTGATTGTGGTG ATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGT GGTGATTGTGATGGGGGTGATGACGGTAATGGGGGTGATGGTGATTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0051 a0001c0007t0051	a0001c0007t0051g0008 a0001c0007t0051g0008	1	150	0.0067	246	c.914 others(263): Show c.914-2532_914-2531insGGTGATGGTAATATGGGTGATGGTGGTG ATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGATGGTGGTGAAGGG GGTGATGGTGGTGATTGTGGTGTGGTAATGGTGATGGTGGTAAAGGGGTG ATGGTGGTGATTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGT GGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGGTGATGACGGTAATGG GGGTGATGGTGATTGTGG		SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484889	A A	ATGGGGTG others(239): Show ATGGGGTGATGGTAATATGGGTGATGGTGGTGATTGTGGTGGTAGTGGTG GTGATGGTGATGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGT GGTGTGGTAATGGTGATGGTGGTAAAGGGGTGATGGTGGTGATTGTGGTG ATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGT GGTGATTGTGATGGGGGTGATGACGGTAATGGGGGTGATGGTGATTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0037 a0001c0004t0037	a0001c0004t0037g0152 a0001c0004t0037g0152	1	158	0.0063	246	c.860 others(263): Show c.860-2532_860-2531insGGTGATGGTAATATGGGTGATGGTGGTG ATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGATGGTGGTGAAGGG GGTGATGGTGGTGATTGTGGTGTGGTAATGGTGATGGTGGTAAAGGGGTG ATGGTGGTGATTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGT GGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGGTGATGACGGTAATGG GGGTGATGGTGATTGTGG		SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
SIGIRR_chr11_400716_419999	401378	C C	CCCCGGCC others(239): Show CCCCGGCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCC CCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACC CCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02165.hp1 NA18970.hp1 HG02129.hp2 HG02165.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0178 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0178	3	242	0.0124	246	c.45 others(257): Show c.4517_*4518insTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGT GAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAG CGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGG CCGGGGTGAGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGG GTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGT GAGCGGGCCGGG		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					4337		chr11	TogoVar
SLAIN1_chr13_77692687_77769229	77704211	T T	TATGTTTT others(239): Show TATGTTTTATATGTATATATATACATAGAAAATATATGTACATATGTTTT ATATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGTAT ATATATACATAGAAAATATATGTACATATGTTTTCTATGTATATATATAC ATAGAAAATATATGTACATATGTTTTATATGTATATATACATAGAAAATA TATGTACATATGTTTTATATGTATATATACATAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	300	0.0033	246	c.626 others(263): Show c.626+5692_626+5693insTACATAGAAAATATATGTACATATGTTT TATATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGTA TATATATACATAGAAAATATATGTACATATGTTTTCTATGTATATATATA CATAGAAAATATATGTACATATGTTTTATATGTATATATACATAGAAAAT ATATGTACATATGTTTTATATGTATATATACATAGAAAATATATATACAT GTTTTATATGTATATATA		SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77704223	G G	GTATATAT others(239): Show GTATATATACATAGAAAATATATATACATGTTTTATATGTATATATATAC ATAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAAATA TATATACATGTTTTATATGTATATATATACATAGAAAATATATATACATA TGTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTAT ATGTATATATATACATAGAAAATATATATACATATGTTTTATATGTA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	300	0.0033	246	c.626 others(263): Show c.626+5706_626+5707insATACATGTTTTATATGTATATATATACA TAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAAATAT ATATACATGTTTTATATGTATATATATACATAGAAAATATATATACATAT GTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATA TGTATATATATACATAGAAAATATATATACATATGTTTTATATGTATATA TATACATAGAAAATATAT		SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr13	TogoVar

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