Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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	cds cds pos length	aa aa pos length	distance	status	chr	external
RGPD2_chr2_87750960_87830796	87825514	CCGCCGCC others(38): Show CCGCCGCCCGGCCGAGGCCGAGGCCGAGGCCGCCGCCCGGCCAGGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG01433.hp2 HG00639.hp1 HG00642.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154	3	176	0.0171	-45	c.72+ others(57): Show c.72+99_72+143delACCTGGCCGGGCGGCGGCCTCGGCCTCGGCCTC GGCCGGGCGGCG		RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22					chr2	TogoVar
RGS17_chr6_152999459_153136282	153054047	ATATGTAT others(38): Show ATATGTATATAATATATATACATATATATATACACACAATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03942.hp1 HG02280.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0047 a0001c0001t0001 a0001c0001t0047	a0001c0001t0001g0034 a0001c0001t0047g0159 a0001c0001t0001g0034 a0001c0001t0047g0159	2	338	0.0059	-45	c.-25 others(64): Show c.-25-10049_-25-10005delAAAAATATTGTGTGTATATATATATG TATATATATTATATACATA		RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4					chr6	TogoVar
RGS4_chr1_163064361_163081802	163070834	TCCTCCTC others(38): Show TCCTCCTCAATAAATTGCAAATCATCTAGTCCAACATCTTTACCAC	T T	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0103 a0001c0001t0016g0103	1	450	0.0022	-45	c.44+ others(60): Show c.44+1308_44+1352delCTCCTCAATAAATTGCAAATCATCTAGTCC AACATCTTTACCACC		RGS4	ENSG00000117152.14	transcript	ENST00000367909.11	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr1	TogoVar
RGS7_chr1_240770514_241362205	241327080	GAGAAAGA others(38): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0053 a0001c0002t0006g0053	1	112	0.0089	-45	c.78+ others(62): Show c.78+28574_78+28618delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCT		RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18					chr1	TogoVar
RHOBTB2_chr8_22994548_23025199	23014081	GATGACTG others(38): Show GATGACTGTTGTTTCTAGGTCTTTTCTGGGGGCAGAGCTGGGAAAT	G G	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	358	0.0028	-45	c.177 others(62): Show c.1772-606_1772-562delGACTGTTGTTTCTAGGTCTTTTCTGGGG GCAGAGCTGGGAAATAT		RHOBTB2	ENSG00000008853.18	transcript	ENST00000251822.7	protein_coding	7/9				INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMBP3C_chr22_21540666_21556461	21553227	TTTTTAAT others(38): Show TTTTTAATAGAGACAGGGTTTCATCATGTTGGCCAGGATGATTTCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0028 a0028	a0028c0100 a0028c0100	a0028c0100t0001 a0028c0100t0001	a0028c0100t0001g0000 a0028c0100t0001g0000	1	200	0.0050	-45	c.-22 others(56): Show c.-2296_-2252delCGAAATCATCCTGGCCAACATGATGAAACCCTGT CTCTATTAAAA		RIMBP3C	ENSG00000183246.8	transcript	ENST00000433039.2	protein_coding				1767		chr22	TogoVar
RIMOC1_chr5_41899344_41926636	41911504	ACTTCTAA others(38): Show ACTTCTAAGGAACTCACATGACCCTGCTTCTAGAAAATTGTGGCCC	A A	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0039 a0001c0001t0006g0039	1	318	0.0031	-45	c.486 others(60): Show c.486+326_486+370delCTTCTAAGGAACTCACATGACCCTGCTTCT AGAAAATTGTGGCCC		RIMOC1	ENSG00000205765.10	transcript	ENST00000381647.7	protein_coding	4/5					chr5	TogoVar
RIN3_chr14_92508781_92693994	92649441	GCCTGTGT others(38): Show GCCTGTGTAGACATGGGCACAGTGCTTCAAACACTCACTCCAGGGT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0187 a0002c0002t0005g0187	1	334	0.0030	-45	c.533 others(62): Show c.533-2112_533-2068delAACACTCACTCCAGGGTCCTGTGTAGAC ATGGGCACAGTGCTTCA		RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	5/9				INFO_REALIGN_3_PRIME	chr14	TogoVar
RMND5A_chr2_86715291_86783041	86762682	TATATATA others(38): Show TATATATATCATATATATCATATATATCATATATATCATATATATC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02015.hp1 HG02074.hp2 others(11): Show HG00544.hp2 HG02015.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 NA18747.hp2 NA18944.hp2 NA18954.hp1 NA18955.hp1 NA19001.hp1 NA19002.hp2 NA19011.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0152 a0001c0001t0001g0164 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0152 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0195 a0001c0001t0001g0206 a0001c0001t0001g0210	14	304	0.0461	-45	c.522 others(62): Show c.522-2327_522-2283delCATATATATCATATATATCATATATATC ATATATATCATATATAT		RMND5A	ENSG00000153561.13	transcript	ENST00000283632.5	protein_coding	4/8				INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF10_chr12_120529356_120582588	120553038	GTTTTTTT others(38): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03486.hp1 HG01884.hp2 HG03486.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0009 a0006c0006t0001 a0001c0001t0009 a0006c0006t0001	a0001c0001t0009g0062 a0006c0006t0001g0063 a0001c0001t0009g0062 a0006c0006t0001g0063	2	372	0.0054	-45	c.554 others(60): Show c.554+359_554+403delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT		RNF10	ENSG00000022840.17	transcript	ENST00000325954.9	protein_coding	3/16				INFO_REALIGN_3_PRIME	chr12	TogoVar
RNF150_chr4_140854807_141138469	141000042	AAGAAGAA others(38): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG04204.hp2 NA18960.hp1 others(1): Show HG03471.hp2 HG04204.hp2 NA18960.hp1 NA18963.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0025 a0001c0001t0080 a0001c0001t0086 others(1): Show a0001c0001t0025 a0001c0001t0080 a0001c0001t0086 a0004c0007t0011	a0001c0001t0025g0109 a0001c0001t0080g0033 a0001c0001t0086g0062 others(1): Show a0001c0001t0025g0109 a0001c0001t0080g0033 a0001c0001t0086g0062 a0004c0007t0011g0178	4	184	0.0217	-45	c.485 others(64): Show c.485-32214_485-32170delCCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCT		RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6					chr4	TogoVar
RNF212B_chr14_23232936_23278477	23277764	TTTAGAAG others(38): Show TTTAGAAGTTAAGAAGGAAAACTGATCCTGATATAGCTTTTTTTAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	368	0.0027	-45	c.48 others(56): Show c.4874_*4918delTTAGAAGTTAAGAAGGAAAACTGATCCTGATATA GCTTTTTTTAG		RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding				4288		chr14	TogoVar
RNF213_chr17_80255852_80403794	80314733	ATGGTGGT others(38): Show ATGGTGGTGATGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0028 a0008c0013t0028	a0008c0013t0028g0250 a0008c0013t0028g0250	1	292	0.0034	-45	c.281 others(64): Show c.2811+1573_2811+1617delTGATGGTGATGGTGGAGGTACTGGAG GTGATGGTGGTGGTGGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67				INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315393	GTGGTGGT others(38): Show GTGGTGGTGGTGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG06807.hp1 others(1): Show HG01168.hp2 HG01169.hp2 HG06807.hp1 NA19030.hp2	a0011 a0011	a0011c0036 a0011c0037 a0011c0036 a0011c0037	a0011c0036t0042 a0011c0036t0043 a0011c0037t0020 a0011c0036t0042 a0011c0036t0043 a0011c0037t0020	a0011c0036t0042g0281 a0011c0036t0043g0280 a0011c0037t0020g0282 others(1): Show a0011c0036t0042g0281 a0011c0036t0043g0280 a0011c0037t0020g0282 a0011c0037t0020g0283	4	292	0.0137	-45	c.281 others(64): Show c.2812-1781_2812-1737delACTGGAGGTGATGGTGGAGGTAATGG AGGTGATGGTGGTGGTGGT		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67				INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF44_chr5_176521712_176542402	176530321	GCAAGTCA others(38): Show GCAAGTCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01346.hp1 HG02300.hp2 HG01081.hp2 HG01346.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	3	444	0.0068	-45	c.802 others(60): Show c.802-160_802-116delGTGGGCTCCGGGGCGGCTGGGAGGCAGGCC CACCGGGCTGACTTG		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10					chr5	TogoVar
RORA_chr15_60483284_61234302	60597548	CAACATAT others(38): Show CAACATATATATATATATATATATATACACATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03041.hp2 HG02280.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0049 a0001c0002t0056 a0001c0001t0049 a0001c0002t0056	a0001c0001t0049g0003 a0001c0002t0056g0110 a0001c0001t0049g0003 a0001c0002t0056g0110	2	118	0.0170	-45	c.197 others(64): Show c.197-65742_197-65698delATATATATATATATATGTGTATATAT ATATATATATATATATGTT		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10					chr15	TogoVar
RP1L1_chr8_10601349_10660143	10624635	TTTGCAAG others(38): Show TTTGCAAGCTGGGGTGGAAGGCCGGGAGGAGAAGGTCGGAGGCTTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02809.hp2 others(4): Show HG02055.hp1 HG02258.hp2 HG02809.hp2 HG03098.hp1 HG03195.hp1 HG03471.hp2 HG03486.hp1	a0016 a0074 a0084 others(3): Show a0016 a0074 a0084 a0103 a0127 a0128	a0016c0054 a0074c0173 a0084c0175 others(3): Show a0016c0054 a0074c0173 a0084c0175 a0103c0198 a0127c0087 a0128c0088	a0016c0054t0005 a0074c0173t0005 a0084c0175t0005 others(3): Show a0016c0054t0005 a0074c0173t0005 a0084c0175t0005 a0103c0198t0009 a0127c0087t0002 a0128c0088t0005	a0016c0054t0005g0369 a0016c0054t0005g0370 a0074c0173t0005g0373 others(4): Show a0016c0054t0005g0369 a0016c0054t0005g0370 a0074c0173t0005g0373 a0084c0175t0005g0368 a0103c0198t0009g0374 a0127c0087t0002g0021 a0128c0088t0005g0372	7	414	0.0169	-45	c.-19 others(62): Show c.-19-1460_-19-1416delGAAGCCTCCGACCTTCTCCTCCCGGCCT TCCACCCCAGCTTGCAA		RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	1/3					chr8	TogoVar
RPH3AL_chr17_207389_357807	220905	ACAGCTCT others(38): Show ACAGCTCTGAGGCCTCCACTCACTGAGACAATAGACCCAAGCACAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp2 HG01515.hp2 others(6): Show HG01167.hp1 HG01243.hp2 HG01515.hp2 HG02622.hp2 HG02723.hp1 HG02976.hp1 NA18906.hp1 NA19043.hp1 NA19043.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0013 a0001c0001 a0001c0003 a0008c0013	a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 others(5): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0022 a0001c0001t0027 a0001c0003t0028 a0008c0013t0003	a0001c0001t0005g0017 a0001c0001t0005g0100 a0001c0001t0008g0113 others(6): Show a0001c0001t0005g0017 a0001c0001t0005g0100 a0001c0001t0008g0113 a0001c0001t0010g0129 a0001c0001t0017g0099 a0001c0001t0022g0071 a0001c0001t0027g0118 a0001c0003t0028g0088 a0008c0013t0003g0037	9	133	0.0677	-45	c.614 others(62): Show c.614-1214_614-1170delATGTGCTTGGGTCTATTGTCTCAGTGAG TGGAGGCCTCAGAGCTG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9					chr17	TogoVar
RPH3AL_chr17_207389_357807	221367	GCTCCACT others(38): Show GCTCCACTCACTGAGACAACAGACCCAAGAACAACAGCTCTGAGGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(5): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 a0001c0001t0016	a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0086 others(5): Show a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0002g0116 a0001c0001t0003g0098 a0001c0001t0007g0097 a0001c0001t0013g0108 a0001c0001t0016g0082	8	133	0.0602	-45	c.614 others(62): Show c.614-1676_614-1632delGCCTCAGAGCTGTTGTTCTTGGGTCTGT TGTCTCAGTGAGTGGAG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9					chr17	TogoVar
RPL3L_chr16_1938974_1959689	1949844	TAGGTATG others(38): Show TAGGTATGGACGGGGTAGGTATGTAGGGGGCAGGTATGTAGGGGGC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	450	0.0022	-45	c.501 others(60): Show c.501+955_501+999delGCCCCCTACATACCTGCCCCCTACATACCT ACCCCGTCCATACCT		RPL3L	ENSG00000140986.8	transcript	ENST00000268661.8	protein_coding	4/9					chr16	TogoVar
RPS6KB1_chr17_59888121_59955574	59909226	CTTTTTTT others(38): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	304	0.0033	-45	c.142 others(62): Show c.142-1321_142-1277delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT		RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding	1/14				INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80581487	GACCGCAC others(38): Show GACCGCACATCAGGCCAGTGCATGCCTGCTATTCTCTGCAGTGGAT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00621.hp1 others(52): Show HG00323.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp2 HG00735.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01978.hp1 HG02015.hp1 HG02145.hp1 HG02165.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03834.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18963.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19066.hp1 NA19068.hp1 NA19082.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(42): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0018 a0001c0019 a0001c0022 a0001c0023 a0001c0024 a0001c0028 a0001c0029 a0001c0031 a0001c0034 a0001c0036 a0001c0037 a0001c0046 a0001c0050 a0001c0053 a0001c0058 a0001c0060 a0001c0066 a0001c0072 a0001c0074 a0001c0075 a0001c0083 a0001c0084 a0001c0085 a0001c0086 a0001c0087 a0001c0088 a0001c0089 a0001c0090 a0001c0091 a0001c0093 a0001c0094 a0001c0095 a0001c0096 a0001c0097	a0001c0002t0008 a0001c0002t0017 a0001c0003t0001 others(48): Show a0001c0002t0008 a0001c0002t0017 a0001c0003t0001 a0001c0004t0001 a0001c0005t0026 a0001c0007t0069 a0001c0008t0054 a0001c0009t0001 a0001c0009t0006 a0001c0009t0028 a0001c0011t0024 a0001c0011t0029 a0001c0011t0062 a0001c0012t0003 a0001c0013t0013 a0001c0015t0008 a0001c0018t0017 a0001c0019t0003 a0001c0022t0001 a0001c0023t0008 a0001c0024t0003 a0001c0028t0006 a0001c0029t0025 a0001c0031t0027 a0001c0034t0004 a0001c0036t0004 a0001c0037t0004 a0001c0037t0053 a0001c0046t0024 a0001c0050t0007 a0001c0053t0007 a0001c0058t0004 a0001c0060t0001 a0001c0066t0058 a0001c0072t0006 a0001c0074t0032 a0001c0075t0012 a0001c0083t0028 a0001c0084t0059 a0001c0085t0003 a0001c0086t0004 a0001c0087t0002 a0001c0088t0007 a0001c0089t0006 a0001c0090t0001 a0001c0091t0016 a0001c0093t0070 a0001c0094t0057 a0001c0095t0003 a0001c0096t0072 a0001c0097t0001	a0001c0002t0008g0131 a0001c0002t0017g0118 a0001c0003t0001g0154 others(52): Show a0001c0002t0008g0131 a0001c0002t0017g0118 a0001c0003t0001g0154 a0001c0004t0001g0152 a0001c0005t0026g0151 a0001c0007t0069g0128 a0001c0008t0054g0169 a0001c0009t0001g0125 a0001c0009t0006g0142 a0001c0009t0028g0113 a0001c0011t0024g0147 a0001c0011t0029g0196 a0001c0011t0062g0114 a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0013t0013g0062 a0001c0015t0008g0139 a0001c0015t0008g0146 a0001c0018t0017g0140 a0001c0019t0003g0135 a0001c0022t0001g0132 a0001c0022t0001g0170 a0001c0023t0008g0134 a0001c0024t0003g0129 a0001c0028t0006g0124 a0001c0029t0025g0153 a0001c0031t0027g0173 a0001c0034t0004g0133 a0001c0036t0004g0167 a0001c0036t0004g0168 a0001c0037t0004g0145 a0001c0037t0053g0138 a0001c0046t0024g0164 a0001c0050t0007g0148 a0001c0053t0007g0122 a0001c0058t0004g0156 a0001c0060t0001g0130 a0001c0066t0058g0126 a0001c0072t0006g0108 a0001c0074t0032g0061 a0001c0075t0012g0127 a0001c0083t0028g0158 a0001c0084t0059g0165 a0001c0085t0003g0162 a0001c0086t0004g0172 a0001c0087t0002g0051 a0001c0088t0007g0141 a0001c0089t0006g0159 a0001c0090t0001g0161 a0001c0091t0016g0166 a0001c0093t0070g0155 a0001c0094t0057g0136 a0001c0095t0003g0137 a0001c0096t0072g0171 a0001c0097t0001g0157	55	196	0.2806	-45	c.162 others(64): Show c.162+35707_162+35751delAGGCCAGTGCATGCCTGCTATTCTCT GCAGTGGATACCGCACATC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33				INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80581532	TACCGCAC others(38): Show TACCGCACATCGGGCCAGTGCATGCCTGCTATTCTCTGCAGTGGAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00544.hp2 others(32): Show HG00140.hp2 HG00423.hp1 HG00544.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp2 HG01168.hp2 HG01175.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01517.hp1 HG01934.hp2 HG02015.hp2 HG02129.hp2 HG02258.hp1 HG02486.hp1 HG02683.hp1 HG02895.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03453.hp2 HG03491.hp2 HG03669.hp1 NA18944.hp1 NA18963.hp1 NA18980.hp1 NA19009.hp1 NA19057.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA20752.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(26): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0001c0011 a0001c0013 a0001c0015 a0001c0017 a0001c0019 a0001c0020 a0001c0022 a0001c0024 a0001c0026 a0001c0027 a0001c0031 a0001c0033 a0001c0044 a0001c0049 a0001c0055 a0001c0064 a0001c0068 a0001c0076 a0001c0078 a0001c0079 a0001c0080 a0003c0069	a0001c0001t0015 a0001c0002t0015 a0001c0002t0039 others(31): Show a0001c0001t0015 a0001c0002t0015 a0001c0002t0039 a0001c0002t0040 a0001c0003t0014 a0001c0003t0038 a0001c0004t0014 a0001c0004t0023 a0001c0006t0022 a0001c0008t0021 a0001c0010t0056 a0001c0010t0071 a0001c0011t0047 a0001c0013t0021 a0001c0015t0046 a0001c0017t0015 a0001c0019t0042 a0001c0020t0048 a0001c0022t0022 a0001c0024t0037 a0001c0026t0043 a0001c0027t0016 a0001c0031t0011 a0001c0033t0023 a0001c0044t0045 a0001c0049t0011 a0001c0055t0049 a0001c0064t0006 a0001c0068t0025 a0001c0076t0011 a0001c0078t0041 a0001c0079t0050 a0001c0080t0011 a0003c0069t0044	a0001c0001t0015g0085 a0001c0002t0015g0086 a0001c0002t0039g0088 others(32): Show a0001c0001t0015g0085 a0001c0002t0015g0086 a0001c0002t0039g0088 a0001c0002t0040g0105 a0001c0003t0014g0102 a0001c0003t0038g0087 a0001c0004t0014g0081 a0001c0004t0014g0098 a0001c0004t0023g0074 a0001c0006t0022g0090 a0001c0008t0021g0091 a0001c0010t0056g0183 a0001c0010t0071g0184 a0001c0011t0047g0076 a0001c0013t0021g0093 a0001c0015t0046g0079 a0001c0017t0015g0082 a0001c0019t0042g0089 a0001c0020t0048g0094 a0001c0022t0022g0095 a0001c0024t0037g0092 a0001c0026t0043g0096 a0001c0027t0016g0185 a0001c0031t0011g0073 a0001c0033t0023g0075 a0001c0044t0045g0080 a0001c0049t0011g0078 a0001c0055t0049g0083 a0001c0064t0006g0106 a0001c0068t0025g0104 a0001c0076t0011g0084 a0001c0078t0041g0100 a0001c0079t0050g0097 a0001c0080t0011g0077 a0003c0069t0044g0099	35	196	0.1786	-45	c.162 others(64): Show c.162+35834_162+35878delCGCACATCGGGCCAGTGCATGCCTGC TATTCTCTGCAGTGGAGAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33				INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80581625	CGCACATC others(38): Show CGCACATCGGGCCAGTGCATGCCTGCTATTCTCTGCAGTGGAGACT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0096 a0001c0096	a0001c0096t0072 a0001c0096t0072	a0001c0096t0072g0171 a0001c0096t0072g0171	1	196	0.0051	-45	c.162 others(64): Show c.162+35859_162+35903delCTATTCTCTGCAGTGGAGACTGCACA TCGGGCCAGTGCATGCCTG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33				INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80923857	CCCCTCTG others(38): Show CCCCTCTGCCTGCACTCCTTAGGAGCACTGCTGGGTGTGTCCCGGT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02976.hp1 others(8): Show HG02055.hp2 HG02451.hp1 HG02976.hp1 HG03098.hp1 HG03209.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0016 a0001c0029 others(3): Show a0001c0005 a0001c0016 a0001c0029 a0001c0040 a0001c0068 a0001c0077	a0001c0005t0026 a0001c0005t0067 a0001c0005t0074 others(7): Show a0001c0005t0026 a0001c0005t0067 a0001c0005t0074 a0001c0005t0075 a0001c0005t0083 a0001c0016t0029 a0001c0029t0025 a0001c0040t0066 a0001c0068t0025 a0001c0077t0086	a0001c0005t0026g0109 a0001c0005t0026g0151 a0001c0005t0067g0111 others(8): Show a0001c0005t0026g0109 a0001c0005t0026g0151 a0001c0005t0067g0111 a0001c0005t0074g0008 a0001c0005t0075g0009 a0001c0005t0083g0017 a0001c0016t0029g0193 a0001c0029t0025g0153 a0001c0040t0066g0180 a0001c0068t0025g0104 a0001c0077t0086g0195	11	196	0.0561	-45	c.280 others(62): Show c.2808+201_2808+245delCTTAGGAGCACTGCTGGGTGTGTCCCGG TCCCTCTGCCTGCACTC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	23/33				INFO_REALIGN_3_PRIME	chr17	TogoVar
RUNX2_chr6_45323330_45556082	45485132	CTGCCAAA others(38): Show CTGCCAAAGTATGGTTTTATTCATTAAGAGAGCTGTCTTTTTCCTT	C C	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0058 a0001c0002t0003g0058	1	178	0.0056	-45	c.686 others(62): Show c.686-6807_686-6763delGCCAAAGTATGGTTTTATTCATTAAGAG AGCTGTCTTTTTCCTTT		RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	5/8				INFO_REALIGN_3_PRIME	chr6	TogoVar
RYR1_chr19_38428691_38592564	38499431	ATCCTGGG others(38): Show ATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAGGTGTTGGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG01070.hp1 others(33): Show HG00639.hp2 HG00735.hp2 HG01070.hp1 HG01175.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG02015.hp1 HG02074.hp1 HG02109.hp1 HG02257.hp2 HG02559.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18955.hp1 NA18970.hp2 NA19000.hp2 NA19004.hp2 NA19067.hp1 NA19084.hp1	a0001 a0002 a0005 others(9): Show a0001 a0002 a0005 a0006 a0007 a0009 a0010 a0015 a0022 a0023 a0024 a0030	a0001c0014 a0001c0019 a0001c0022 others(22): Show a0001c0014 a0001c0019 a0001c0022 a0001c0029 a0001c0031 a0001c0034 a0001c0035 a0001c0056 a0001c0062 a0001c0063 a0001c0071 a0001c0105 a0001c0116 a0002c0025 a0005c0016 a0005c0107 a0006c0007 a0007c0038 a0009c0103 a0010c0021 a0015c0086 a0022c0060 a0023c0109 a0024c0061 a0030c0048	a0001c0014t0001 a0001c0019t0002 a0001c0022t0001 others(22): Show a0001c0014t0001 a0001c0019t0002 a0001c0022t0001 a0001c0029t0001 a0001c0031t0001 a0001c0034t0001 a0001c0035t0001 a0001c0056t0001 a0001c0062t0001 a0001c0063t0001 a0001c0071t0001 a0001c0105t0001 a0001c0116t0001 a0002c0025t0001 a0005c0016t0001 a0005c0107t0001 a0006c0007t0002 a0007c0038t0002 a0009c0103t0001 a0010c0021t0001 a0015c0086t0001 a0022c0060t0001 a0023c0109t0001 a0024c0061t0001 a0030c0048t0001	a0001c0014t0001g0004 a0001c0014t0001g0024 a0001c0014t0001g0025 others(33): Show a0001c0014t0001g0004 a0001c0014t0001g0024 a0001c0014t0001g0025 a0001c0019t0002g0217 a0001c0019t0002g0218 a0001c0022t0001g0051 a0001c0022t0001g0052 a0001c0029t0001g0074 a0001c0029t0001g0083 a0001c0031t0001g0159 a0001c0034t0001g0180 a0001c0035t0001g0113 a0001c0056t0001g0135 a0001c0062t0001g0050 a0001c0063t0001g0049 a0001c0071t0001g0186 a0001c0105t0001g0089 a0001c0116t0001g0121 a0002c0025t0001g0162 a0002c0025t0001g0170 a0005c0016t0001g0122 a0005c0016t0001g0123 a0005c0107t0001g0042 a0006c0007t0002g0202 a0006c0007t0002g0203 a0006c0007t0002g0212 a0006c0007t0002g0213 a0007c0038t0002g0215 a0009c0103t0001g0146 a0010c0021t0001g0177 a0010c0021t0001g0178 a0015c0086t0001g0019 a0022c0060t0001g0112 a0023c0109t0001g0020 a0024c0061t0001g0044 a0030c0048t0001g0118	36	218	0.1651	-45	c.702 others(62): Show c.7028-190_7028-146delGGGAGCCTGGTGTTACCCCTAGAGGTGT TGGGTCCTGGGGCTGGC		RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	43/105				INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR2_chr1_237037184_237838988	237117671	CCTTCTCT others(38): Show CCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0004 a0004	a0004c0034 a0004c0034	a0004c0034t0011 a0004c0034t0011	a0004c0034t0011g0043 a0004c0034t0011g0043	1	100	0.0100	-45	c.48+ others(62): Show c.48+75145_48+75189delTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTTCTCTTCTCT		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104				INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237591089	TCTCCTCC others(38): Show TCTCCTCCTCCTCCTCCTCCTCCTCTTCCCCCTTCTCCTCCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(32): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01168.hp2 HG01175.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01928.hp2 HG02055.hp1 HG02055.hp2 HG02293.hp2 HG02559.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03704.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18946.hp1 NA18946.hp2 NA18962.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0001c0026 a0001c0028 a0001c0036 a0001c0041 a0001c0042 a0002c0031 a0002c0035 a0002c0039 a0003c0006 a0003c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(30): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0026 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0004t0002 a0001c0004t0004 a0001c0004t0020 a0001c0004t0030 a0001c0005t0011 a0001c0007t0019 a0001c0007t0024 a0001c0008t0028 a0001c0011t0004 a0001c0026t0004 a0001c0028t0007 a0001c0036t0003 a0001c0041t0006 a0001c0042t0017 a0002c0031t0025 a0002c0035t0021 a0002c0039t0036 a0003c0006t0004 a0003c0013t0001 a0003c0013t0003	a0001c0001t0001g0012 a0001c0001t0001g0099 a0001c0001t0003g0089 others(32): Show a0001c0001t0001g0012 a0001c0001t0001g0099 a0001c0001t0003g0089 a0001c0001t0003g0100 a0001c0001t0006g0025 a0001c0001t0015g0069 a0001c0002t0001g0075 a0001c0002t0002g0076 a0001c0002t0009g0021 a0001c0002t0026g0059 a0001c0003t0001g0063 a0001c0003t0002g0065 a0001c0003t0003g0046 a0001c0003t0004g0060 a0001c0003t0005g0018 a0001c0004t0002g0092 a0001c0004t0004g0009 a0001c0004t0020g0093 a0001c0004t0030g0005 a0001c0005t0011g0061 a0001c0007t0019g0057 a0001c0007t0024g0048 a0001c0008t0028g0039 a0001c0011t0004g0064 a0001c0026t0004g0055 a0001c0028t0007g0062 a0001c0036t0003g0038 a0001c0041t0006g0027 a0001c0042t0017g0050 a0002c0031t0025g0056 a0002c0035t0021g0010 a0002c0039t0036g0030 a0003c0006t0004g0088 a0003c0013t0001g0091 a0003c0013t0003g0086	35	100	0.3500	-45	c.416 others(62): Show c.4160+111_4160+155delTCCTCCTCCTCTTCCCCCTTCTCCTCCT CCCCCTCCTCCTCCTCC		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	31/104				INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237591137	CCTCCTCC others(38): Show CCTCCTCCTCCCCCTCCTCCTCTTCCCCCTTCTCCTCCTCCCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp2 HG01081.hp1 others(10): Show HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01169.hp1 HG01175.hp2 HG02293.hp1 HG02451.hp2 HG03017.hp2 HG03669.hp1 HG03704.hp2 NA19043.hp2 NA19066.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0023 a0001c0045 a0001c0047 a0003c0006 a0003c0043	a0001c0001t0007 a0001c0002t0002 a0001c0002t0003 others(9): Show a0001c0001t0007 a0001c0002t0002 a0001c0002t0003 a0001c0002t0013 a0001c0003t0001 a0001c0007t0001 a0001c0023t0003 a0001c0045t0001 a0001c0047t0002 a0003c0006t0001 a0003c0006t0002 a0003c0043t0002	a0001c0001t0007g0082 a0001c0002t0002g0022 a0001c0002t0003g0008 others(10): Show a0001c0001t0007g0082 a0001c0002t0002g0022 a0001c0002t0003g0008 a0001c0002t0013g0017 a0001c0003t0001g0078 a0001c0007t0001g0020 a0001c0023t0003g0071 a0001c0045t0001g0073 a0001c0047t0002g0077 a0003c0006t0001g0083 a0003c0006t0002g0006 a0003c0006t0002g0094 a0003c0043t0002g0068	13	100	0.1300	-45	c.416 others(62): Show c.4160+160_4160+204delCCTCCTCTTCCCCCTTCTCCTCCTCCCC CTTCTCCTCCTCCCCCT		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	31/104				INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237591159	TTCCCCCT others(38): Show TTCCCCCTTCTCCTCCTCCCCCTTCTCCTCCTCCCCCTTCTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG00609.hp2 others(29): Show HG00280.hp2 HG00609.hp1 HG00609.hp2 HG01099.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01981.hp1 HG01981.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02922.hp1 HG03017.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp1 HG03831.hp1 HG03831.hp2 NA18522.hp1 NA18747.hp2 NA18962.hp2 NA19066.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0003 a0001c0004 others(19): Show a0001c0001 a0001c0003 a0001c0004 a0001c0010 a0001c0015 a0001c0016 a0001c0018 a0001c0022 a0001c0027 a0001c0029 a0001c0030 a0001c0032 a0001c0040 a0001c0044 a0001c0049 a0002c0009 a0002c0012 a0002c0024 a0002c0025 a0003c0021 a0005c0033 a0007c0046	a0001c0001t0003 a0001c0001t0004 a0001c0001t0038 others(29): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0038 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0004t0001 a0001c0004t0004 a0001c0004t0018 a0001c0010t0004 a0001c0010t0029 a0001c0015t0006 a0001c0016t0033 a0001c0018t0032 a0001c0022t0014 a0001c0027t0002 a0001c0029t0008 a0001c0030t0005 a0001c0032t0005 a0001c0040t0039 a0001c0044t0002 a0001c0049t0009 a0002c0009t0002 a0002c0009t0004 a0002c0009t0008 a0002c0012t0002 a0002c0012t0023 a0002c0024t0005 a0002c0025t0040 a0003c0021t0001 a0005c0033t0008 a0007c0046t0010	a0001c0001t0003g0023 a0001c0001t0004g0036 a0001c0001t0038g0026 others(29): Show a0001c0001t0003g0023 a0001c0001t0004g0036 a0001c0001t0038g0026 a0001c0003t0002g0087 a0001c0003t0003g0084 a0001c0003t0004g0016 a0001c0004t0001g0058 a0001c0004t0004g0045 a0001c0004t0018g0047 a0001c0010t0004g0097 a0001c0010t0029g0051 a0001c0015t0006g0034 a0001c0016t0033g0024 a0001c0018t0032g0041 a0001c0022t0014g0066 a0001c0027t0002g0085 a0001c0029t0008g0090 a0001c0030t0005g0053 a0001c0032t0005g0098 a0001c0040t0039g0095 a0001c0044t0002g0014 a0001c0049t0009g0044 a0002c0009t0002g0079 a0002c0009t0004g0067 a0002c0009t0008g0040 a0002c0012t0002g0072 a0002c0012t0023g0074 a0002c0024t0005g0013 a0002c0025t0040g0003 a0003c0021t0001g0019 a0005c0033t0008g0049 a0007c0046t0010g0080	32	100	0.3200	-45	c.416 others(62): Show c.4160+201_4160+245delCCCTTCTCCTCCTCCCCCTTCTCCTCCT CCCCCTTCTCCTCCTCC		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	31/104				INFO_REALIGN_3_PRIME	chr1	TogoVar
SAA4_chr11_18226355_18241802	18234554	TTACGTGT others(38): Show TTACGTGTTACCAAGTTCTTTAAACCAACTCACTTGGAAAAAAGAA	T T	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	418	0.0024	-45	c.91+ others(60): Show c.91+1237_91+1281delTTCTTTTTTCCAAGTGAGTTGGTTTAAAGA ACTTGGTAACACGTA		SAA4	ENSG00000148965.10	transcript	ENST00000278222.7	protein_coding	2/3					chr11	TogoVar
SCAP_chr3_47408681_47480941	47423029	TCTAAGGC others(38): Show TCTAAGGCTCTGTGCTCTTACTGGGTAAGGACAATTTCGCCCCATC	T T	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0252 a0002c0002t0001g0252	1	304	0.0033	-45	c.115 others(62): Show c.1151-538_1151-494delGATGGGGCGAAATTGTCCTTACCCAGTA AGAGCACAGAGCCTTAG		SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	9/22					chr3	TogoVar
SCN11A_chr3_38840764_39056944	38889802	AAAAATAA others(38): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0011 a0001c0011t0011	a0001c0011t0011g0258 a0001c0011t0011g0258	1	314	0.0032	-45	c.283 others(64): Show c.2836-3609_2836-3565delATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTT		SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	19/29					chr3	TogoVar
SCN9A_chr2_166190185_166380944	166304193	TTGGAGTT others(38): Show TTGGAGTTATGAGTGGCCTAATGCTTCACACCAATTACTTCTTACC	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18973.hp1 NA18973.hp1	a0017 a0017	a0017c0042 a0017c0042	a0017c0042t0001 a0017c0042t0001	a0017c0042t0001g0226 a0017c0042t0001g0226	1	296	0.0034	-45	c.688 others(55): Show c.688_688+44delGGTAAGAAGTAATTGGTGTGAAGCATTAGGCCACT CATAACTCCA	p.Gly others(5): Show p.Gly230fs	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	6/27	688/5967	230/1988			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23382463	CCTTGGTC others(38): Show CCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	306	0.0033	-45	c.16 others(56): Show c.1663_*1707delCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCAT CAAGTGCTCAG		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding				1170		chr16	TogoVar
SCUBE1_chr22_43192280_43348372	43339819	TCTATCCC others(38): Show TCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCTACTCTCCTCA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0217 a0003c0001t0001g0217	1	280	0.0036	-45	c.89- others(58): Show c.89-629_89-585delTGAGGAGAGTAGGGGAGGGCTGGAGTGATGCT TGTGGGGGGATAG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21					chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339845	GCCCTCCC others(38): Show GCCCTCCCCTACTCTCCTCACTATCCCCCCACAAGCATCACTCCAA	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02155.hp1 HG01928.hp1 HG02155.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0003 a0002c0005t0023 a0001c0003t0003 a0002c0005t0023	a0001c0003t0003g0222 a0002c0005t0023g0156 a0001c0003t0003g0222 a0002c0005t0023g0156	2	280	0.0071	-45	c.89- others(58): Show c.89-655_89-611delTTGGAGTGATGCTTGTGGGGGGATAGTGAGGA GAGTAGGGGAGGG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21					chr22	TogoVar
SDHA_chr5_213320_262082	238409	CTGCAAAA others(38): Show CTGCAAAAAAAAATACATATATATACACATATATATGTATTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	266	0.0038	-45	c.143 others(64): Show c.1432+1812_1432+1856delGCAAAAAAAAATACATATATATACAC ATATATATGTATTTTTTTT		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding	10/14				INFO_REALIGN_3_PRIME	chr5	TogoVar
SDK2_chr17_73329384_73649445	73617159	CGCAGAGA others(38): Show CGCAGAGAGGAGGGGAGAGGGCTCCAGGGGAGGGGAGGGGCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0007 a0001c0093t0007	a0001c0093t0007g0057 a0001c0093t0007g0057	1	204	0.0049	-45	c.64+ others(62): Show c.64+26821_64+26865delAGGAGGCCCCTCCCCTCCCCTGGAGCCC TCTCCCCTCCTCTCTGC		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44					chr17	TogoVar
SELENON_chr1_25795193_25823221	25808297	CGCCTGGG others(38): Show CGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(356): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(20): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0023 a0001c0024 a0002c0013 a0003c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 a0001c0001t0017 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0018 a0001c0002t0027 a0001c0002t0029 a0001c0004t0001 a0001c0004t0006 a0001c0004t0012 a0001c0004t0015 a0001c0004t0028 a0001c0005t0001 a0001c0005t0002 a0001c0005t0006 a0001c0006t0001 a0001c0007t0001 a0001c0007t0006 a0001c0007t0012 a0001c0007t0020 a0001c0008t0007 a0001c0009t0010 a0001c0009t0036 a0001c0010t0021 a0001c0010t0022 a0001c0011t0006 a0001c0012t0021 a0001c0012t0023 a0001c0014t0001 a0001c0015t0016 a0001c0016t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0010 a0001c0020t0015 a0001c0021t0016 a0001c0023t0010 a0001c0024t0001 a0002c0013t0001 a0003c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(235): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0091 a0001c0001t0002g0106 a0001c0001t0002g0112 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0003g0069 a0001c0001t0003g0080 a0001c0001t0004g0002 a0001c0001t0004g0007 a0001c0001t0004g0013 a0001c0001t0004g0040 a0001c0001t0004g0102 a0001c0001t0004g0139 a0001c0001t0004g0143 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0009g0001 a0001c0001t0009g0202 a0001c0001t0009g0216 a0001c0001t0014g0185 a0001c0001t0014g0186 a0001c0001t0017g0006 a0001c0001t0017g0117 a0001c0001t0024g0090 a0001c0001t0025g0207 a0001c0001t0026g0004 a0001c0001t0030g0180 a0001c0001t0032g0072 a0001c0001t0033g0065 a0001c0001t0034g0004 a0001c0001t0035g0009 a0001c0002t0003g0037 a0001c0002t0003g0039 a0001c0002t0003g0057 a0001c0002t0003g0146 a0001c0002t0005g0025 a0001c0002t0005g0044 a0001c0002t0005g0075 a0001c0002t0005g0094 a0001c0002t0005g0122 a0001c0002t0005g0168 a0001c0002t0005g0171 a0001c0002t0005g0173 a0001c0002t0008g0103 a0001c0002t0008g0131 a0001c0002t0008g0176 a0001c0002t0008g0177 a0001c0002t0008g0178 a0001c0002t0011g0042 a0001c0002t0011g0167 a0001c0002t0018g0049 a0001c0002t0027g0136 a0001c0002t0029g0096 a0001c0004t0001g0020 a0001c0004t0001g0028 a0001c0004t0001g0036 a0001c0004t0001g0055 a0001c0004t0001g0063 a0001c0004t0001g0092 a0001c0004t0001g0141 a0001c0004t0001g0142 a0001c0004t0006g0045 a0001c0004t0006g0220 a0001c0004t0012g0053 a0001c0004t0012g0061 a0001c0004t0015g0221 a0001c0004t0028g0179 a0001c0005t0001g0003 a0001c0005t0001g0006 a0001c0005t0001g0009 a0001c0005t0001g0023 a0001c0005t0001g0110 a0001c0005t0001g0111 a0001c0005t0002g0001 a0001c0005t0002g0004 a0001c0005t0006g0098 a0001c0006t0001g0005 a0001c0006t0001g0008 a0001c0006t0001g0009 a0001c0006t0001g0023 a0001c0006t0001g0145 a0001c0007t0001g0020 a0001c0007t0001g0062 a0001c0007t0006g0238 a0001c0007t0012g0219 a0001c0007t0020g0048 a0001c0008t0007g0041 a0001c0008t0007g0154 a0001c0008t0007g0155 a0001c0008t0007g0156 a0001c0008t0007g0157 a0001c0009t0010g0120 a0001c0009t0010g0121 a0001c0009t0010g0158 a0001c0009t0036g0123 a0001c0010t0021g0169 a0001c0010t0022g0165 a0001c0010t0022g0172 a0001c0011t0006g0150 a0001c0011t0006g0151 a0001c0011t0006g0152 a0001c0012t0021g0161 a0001c0012t0023g0153 a0001c0014t0001g0018 a0001c0015t0016g0164 a0001c0016t0001g0129 a0001c0017t0001g0174 a0001c0018t0001g0005 a0001c0019t0010g0222 a0001c0020t0015g0175 a0001c0021t0016g0162 a0001c0023t0010g0095 a0001c0024t0001g0232 a0002c0013t0001g0078 a0003c0025t0001g0019	359	392	0.9158	-45	c.538 others(60): Show c.538-253_538-209delTGCCTGGGTGGGCTGTGCCTGGGTGGGCTG TGCCTGGGTGGGCTG		SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding	4/12				WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&INFO_REALIGN_3_PRIME	chr1	TogoVar
SEPHS1_chr10_13312428_13353293	13325901	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGACTCAGTCTC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19030.hp1 HG01884.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0196 a0001c0001t0001g0086 a0001c0001t0001g0196	2	378	0.0053	-45	c.751 others(62): Show c.751+2405_751+2449delGAGACTGAGTCTCTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT		SEPHS1	ENSG00000086475.15	transcript	ENST00000327347.10	protein_coding	7/8					chr10	TogoVar
SEPHS1_chr10_13312428_13353293	13325920	AAAAAAAA others(38): Show AAAAAAAAAAAAAAGAGACTCAGTCTCAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02257.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0191 a0001c0001t0001g0192	2	378	0.0053	-45	c.751 others(62): Show c.751+2386_751+2430delATTTTTTTTTTTTTTTTTTGAGACTGAG TCTCTTTTTTTTTTTTT		SEPHS1	ENSG00000086475.15	transcript	ENST00000327347.10	protein_coding	7/8					chr10	TogoVar
SERGEF_chr11_17783048_18018047	17896853	TAAGGGAA others(38): Show TAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02647.hp1 others(12): Show HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0001c0001t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(12): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0002g0140 a0001c0001t0002g0144 a0002c0003t0001g0013 a0002c0003t0001g0036 a0002c0003t0001g0075 a0002c0003t0001g0100	15	226	0.0664	-45	c.101 others(66): Show c.1012-18654_1012-18610delCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCCTTCCCTTCCCTT		SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10					chr11	TogoVar
SERPINB12_chr18_63537369_63574329	63567888	ATGCCCCT others(38): Show ATGCCCCTCTCTCTGCCTTCTGGCCACGTGGAGGCTGGCCTCTGTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00558.hp1 others(48): Show HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG02015.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02132.hp1 HG03017.hp2 HG04199.hp1 NA18939.hp2 NA18942.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18981.hp2 NA18983.hp2 NA18987.hp2 NA18992.hp1 NA18994.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19054.hp1 NA19063.hp2 NA19074.hp1 NA19075.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19086.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0009 a0002c0002 a0002c0009	a0002c0002t0003 a0002c0002t0014 a0002c0002t0038 others(3): Show a0002c0002t0003 a0002c0002t0014 a0002c0002t0038 a0002c0002t0040 a0002c0002t0041 a0002c0009t0003	a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0013 others(29): Show a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0015 a0002c0002t0003g0016 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0065 a0002c0002t0003g0072 a0002c0002t0003g0073 a0002c0002t0003g0074 a0002c0002t0003g0075 a0002c0002t0003g0076 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0079 a0002c0002t0003g0080 a0002c0002t0003g0081 a0002c0002t0003g0082 a0002c0002t0003g0085 a0002c0002t0003g0086 a0002c0002t0003g0090 a0002c0002t0003g0091 a0002c0002t0003g0214 a0002c0002t0003g0221 a0002c0002t0003g0222 a0002c0002t0014g0039 a0002c0002t0038g0015 a0002c0002t0040g0071 a0002c0002t0041g0013 a0002c0009t0003g0014	51	402	0.1269	-45	c.91 others(54): Show c.919_*963delTGTGTGCCCCTCTCTCTGCCTTCTGGCCACGTGGAG GCTGGCCTC		SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	8/8			919	INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINF2_chr17_1737871_1760265	1738865	GGCCTGAT others(38): Show GGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01884.hp1 HG02451.hp1 others(10): Show HG00609.hp1 HG01884.hp1 HG02451.hp1 HG02559.hp1 HG02886.hp2 HG03195.hp2 HG03453.hp1 HG03516.hp2 NA18960.hp2 NA18974.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0005c0007t0001	a0001c0001t0001g0008 a0001c0001t0003g0001 a0001c0001t0003g0053 others(4): Show a0001c0001t0001g0008 a0001c0001t0003g0001 a0001c0001t0003g0053 a0001c0001t0003g0105 a0001c0001t0005g0053 a0001c0001t0005g0144 a0005c0007t0001g0028	13	445	0.0292	-45	c.-40 others(56): Show c.-4047_-4003delGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGA		SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding				4005		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739180	AGCCTGAT others(38): Show AGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAGGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG01167.hp1 others(29): Show HG00280.hp2 HG00621.hp1 HG01167.hp1 HG01346.hp2 HG01433.hp2 HG01928.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02976.hp2 HG03139.hp2 HG03579.hp1 HG03688.hp1 HG04115.hp2 HG06807.hp1 NA18612.hp2 NA18979.hp1 NA18985.hp2 NA18992.hp1 NA18994.hp2 NA19074.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp2	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0012	a0001c0001 a0003c0003 a0003c0006 others(3): Show a0001c0001 a0003c0003 a0003c0006 a0003c0015 a0011c0016 a0012c0014	a0001c0001t0016 a0003c0003t0001 a0003c0003t0004 others(5): Show a0001c0001t0016 a0003c0003t0001 a0003c0003t0004 a0003c0003t0010 a0003c0006t0001 a0003c0015t0001 a0011c0016t0004 a0012c0014t0004	a0001c0001t0016g0145 a0003c0003t0001g0003 a0003c0003t0001g0007 others(22): Show a0001c0001t0016g0145 a0003c0003t0001g0003 a0003c0003t0001g0007 a0003c0003t0001g0013 a0003c0003t0001g0015 a0003c0003t0001g0026 a0003c0003t0001g0043 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0102 a0003c0003t0001g0117 a0003c0003t0001g0157 a0003c0003t0004g0007 a0003c0003t0004g0013 a0003c0003t0004g0026 a0003c0003t0004g0027 a0003c0003t0004g0047 a0003c0003t0004g0097 a0003c0003t0004g0101 a0003c0003t0004g0156 a0003c0003t0010g0126 a0003c0006t0001g0015 a0003c0015t0001g0003 a0011c0016t0004g0046 a0012c0014t0004g0098	32	445	0.0719	-45	c.-37 others(56): Show c.-3732_-3688delGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAG GGTGGGAGGCG		SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding				3690		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739493	GGCCTGAT others(38): Show GGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG00741.hp1 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	2	445	0.0045	-45	c.-34 others(56): Show c.-3419_-3375delGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGA		SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding				3377		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739808	GGCCTGAT others(38): Show GGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 NA20129.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0143 a0001c0001t0010g0153 a0001c0001t0010g0143 a0001c0001t0010g0153	2	445	0.0045	-45	c.-31 others(56): Show c.-3104_-3060delGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGA		SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding				3062		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739898	AGCCTGAT others(38): Show AGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0154 a0007c0012t0001g0154	1	445	0.0023	-45	c.-30 others(56): Show c.-3014_-2970delGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAGGTG		SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding				2972		chr17	TogoVar

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